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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMIGO1_chr1_109499178_109514727 | 109503474 | G | GTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0021 | 1 | 386 | 0.0026 | 10 | c.*39 others(21): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 703 | chr1 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109503476 | T | TTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030 | a0001c0001t0005g0005 a0001c0001t0030g0033 |
2 | 171 | 0.0117 | 10 | c.*39 others(21): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109513895 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0003 a0001c0001t0019g0021 |
2 | 124 | 0.0161 | 10 | c.-45 others(21): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 4169 | chr1 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127858100 | T | TCGCCGCG others(3): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 a0001c0001t0006g0149 a0001c0001t0006g0158 others(1): Show |
7 | 332 | 0.0211 | 10 | c.*69 others(21): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 3529 | chr2 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127890184 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0154 a0001c0001t0008g0085 |
2 | 159 | 0.0126 | 10 | c.-45 others(21): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 4229 | chr2 | TogoVar | |||||||
AMMECR1_chrX_110189186_110323085 | 110217502 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 105 | 0.0095 | 10 | c.585 others(25): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31685800 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0125 |
2 | 58 | 0.0345 | 10 | c.703 others(27): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31695487 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 98 | 0.0102 | 10 | c.591 others(27): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 21 | 0.0476 | 10 | c.317 others(27): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31707188 | A | AGAATAAA others(3): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0348 |
2 | 430 | 0.0047 | 10 | c.171 others(27): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
AMOTL1_chr11_94763356_94881748 | 94840681 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0203 a0001c0001t0004g0014 |
3 | 166 | 0.0181 | 10 | c.164 others(29): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94873776 | T | TACACACA others(3): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp1 HG01496.hp2 HG01978.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0008 | a0001c0001t0016g0114 a0001c0001t0016g0117 a0001c0001t0016g0146 others(6): Show |
9 | 103 | 0.0874 | 10 | c.*30 others(21): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 3019 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL2_chr3_134350347_134379447 | 134372530 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(124): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(41): Show |
127 | 179 | 0.7095 | 10 | c.-61 others(27): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112825035 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0193 | 1 | 185 | 0.0054 | 10 | c.-63 others(23): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 3/13 | chrX | TogoVar | |||||||
AMPD1_chr1_114668098_114700546 | 114668520 | A | AACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02897.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0073 others(1): Show |
4 | 105 | 0.0381 | 10 | c.*45 others(21): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 4577 | chr1 | TogoVar | |||||||
AMPD2_chr1_109614837_109637051 | 109615620 | A | AAAAAGAA others(3): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(201): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(55): Show |
204 | 231 | 0.8831 | 10 | c.-49 others(21): Show |
AMPD2 | ENSG00000116337.20 | transcript | ENST00000528667.7 | protein_coding | 4216 | chr1 | TogoVar | |||||||
AMPD3_chr11_10450264_10512579 | 10450339 | A | AGTGTGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01516.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0044 others(14): Show |
20 | 112 | 0.1786 | 10 | c.-51 others(21): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 4924 | chr11 | TogoVar | |||||||
AMPD3_chr11_10450264_10512579 | 10454558 | C | CCCATAAG others(3): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 388 | 0.0026 | 10 | c.-89 others(19): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 705 | chr11 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38385588 | A | AAAGCAGT others(3): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 286 | 0.0035 | 10 | c.198 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38390961 | C | CAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0223 | 1 | 20 | 0.0500 | 10 | c.187 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38392377 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03486.hp2 HG04204.hp2 NA18982.hp1 others(1): Show |
a0001a0002 | a0001c0016a0002c0004 | a0001c0016t0004a0002c0004t0005 | a0001c0016t0004g0219 a0002c0004t0005g0035 a0002c0004t0005g0211 others(1): Show |
4 | 5 | 0.8000 | 10 | c.160 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 18/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38406728 | T | TTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0096 a0001c0001t0001g0171 a0001c0001t0001g0221 others(2): Show |
5 | 148 | 0.0338 | 10 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38407021 | C | CCTCTCTC others(3): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0026 a0001c0001t0003g0215 a0001c0001t0003g0285 others(6): Show |
9 | 126 | 0.0714 | 10 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38407048 | C | CTCTATAT others(3): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0056 |
2 | 230 | 0.0087 | 10 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38407048 | C | CTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0142 | 1 | 229 | 0.0044 | 10 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38407048 | C | CTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03225.hp2 HG03710.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(1): Show | a0001c0001t0001g0054 a0001c0001t0004g0025 a0001c0003t0002g0002 others(1): Show |
4 | 232 | 0.0172 | 10 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38407335 | A | ATCTCTCT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(120): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 others(120): Show |
123 | 192 | 0.6406 | 10 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38416102 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 20 | 0.0500 | 10 | c.139 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38433724 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01981.hp2 HG04228.hp1 |
a0001 | a0001c0007a0001c0009 | a0001c0007t0005a0001c0009t0006 | a0001c0007t0005g0112 a0001c0009t0006g0234 |
2 | 17 | 0.1176 | 10 | c.113 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38437639 | A | AAAAAGAA others(3): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0080 a0001c0001t0003g0097 a0001c0001t0003g0148 others(4): Show |
7 | 79 | 0.0886 | 10 | c.101 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38467640 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01255.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0048 a0001c0001t0003g0080 a0001c0001t0003g0249 others(11): Show |
14 | 16 | 0.8750 | 10 | c.591 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38473710 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01257.hp2 HG02155.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0072 a0001c0001t0001g0147 a0001c0001t0001g0204 others(9): Show |
12 | 156 | 0.0769 | 10 | c.590 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38525258 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02129.hp1 HG02155.hp2 others(9): Show |
a0001a0007 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0001a0001c0007t0001a0001c0009t0006others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0072 a0001c0001t0001g0105 others(9): Show |
12 | 219 | 0.0548 | 10 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38525258 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0046 | 1 | 208 | 0.0048 | 10 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38525273 | T | TAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0113 | 1 | 247 | 0.0040 | 10 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38525275 | T | TAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0073 | 1 | 250 | 0.0040 | 10 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38525277 | T | TATAGAGA others(3): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0062 a0001c0001t0003g0070 |
2 | 173 | 0.0116 | 10 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38525277 | T | TATATAGA others(3): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02735.hp1 NA18963.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0244 others(2): Show |
5 | 176 | 0.0284 | 10 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38525277 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 NA18906.hp2 |
a0001a0006 | a0001c0007a0006c0018 | a0001c0007t0008a0006c0018t0004 | a0001c0007t0008g0283 a0006c0018t0004g0139 |
2 | 173 | 0.0116 | 10 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38525277 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02109.hp2 HG02145.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0071 a0001c0001t0001g0212 a0001c0001t0001g0248 others(4): Show |
7 | 178 | 0.0393 | 10 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38525445 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0257 | 1 | 103 | 0.0097 | 10 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38570927 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01358.hp1 HG01361.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0144 others(11): Show |
14 | 166 | 0.0843 | 10 | c.70- others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38610318 | A | AGGAAGGA others(3): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 257 | 0.0039 | 10 | c.69+ others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38620360 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0002 | a0001c0001t0004g0164 a0001c0003t0002g0163 |
2 | 276 | 0.0072 | 10 | c.69+ others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38622454 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0151 | 1 | 107 | 0.0093 | 10 | c.69+ others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38627387 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG01358.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 others(26): Show |
29 | 85 | 0.3412 | 10 | c.69+ others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38632887 | C | CAGAGAGA others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0049 others(43): Show |
46 | 162 | 0.2840 | 10 | c.-15 others(21): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1515 | chr7 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516364 | A | ATATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0118 | 1 | 450 | 0.0022 | 10 | c.-23 others(21): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2204 | chr4 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70521640 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02027.hp1 HG02735.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019 a0002c0003t0001g0087 |
5 | 14 | 0.3571 | 10 | c.55- others(25): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AMY1C_chr1_103744898_103763692 | 103754678 | G | GTGATATT others(3): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 340 | 0.0029 | 10 | c.100 others(25): Show |
AMY1C | ENSG00000187733.7 | transcript | ENST00000622339.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |