regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 109501073 | A | ACACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 400 | 0.0025 | 12 | c.*63 others(23): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 3104 | chr1 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109503476 | T | TCATATAT others(5): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 400 | 0.0050 | 12 | c.*39 others(23): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109503476 | T | TTATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 400 | 0.0025 | 12 | c.*39 others(23): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109511255 | A | AAAAGAAA others(5): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 12 | c.-19 others(23): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1529 | chr1 | TogoVar | ||||||
AMIGO3_chr3_49711829_49724684 | 49724134 | T | TGGCGGAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01123.hp2 others(13): Show |
a0001a0008 | a0001c0001a0008c0006 | a0001c0001t0002a0008c0006t0002 | a0001c0001t0002g0000a0008c0006t0002g0000 | 16 | 334 | 0.0479 | 12 | c.-46 others(23): Show |
AMIGO3 | ENSG00000176020.9 | transcript | ENST00000320431.8 | protein_coding | 4451 | chr3 | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110217502 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0132 | 2 | 155 | 0.0129 | 12 | c.585 others(27): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31696280 | G | GTATTTAT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0085others(58): Show | 66 | 432 | 0.1528 | 12 | c.591 others(29): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 | 1 | 432 | 0.0023 | 12 | c.317 others(29): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31722130 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0385a0001c0001t0002g0386a0001c0001t0011g0388 | 3 | 432 | 0.0069 | 12 | c.38+ others(27): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
AMN_chr14_102917663_102935842 | 102923664 | G | GGAGCATC others(5): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 452 | 0.0022 | 12 | c.44- others(23): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94840654 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0028a0001c0005t0052 | a0001c0001t0003g0022a0001c0001t0028g0195a0001c0001t0028g0196others(1): Show | 4 | 246 | 0.0163 | 12 | c.164 others(31): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94840654 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0213 | 1 | 246 | 0.0041 | 12 | c.164 others(31): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94840681 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 246 | 0.0041 | 12 | c.164 others(31): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94840681 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0193 | 1 | 246 | 0.0041 | 12 | c.164 others(31): 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(5): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG02559.hp2 others(6): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0035a0001c0001t0039a0001c0002t0014others(3): Show | a0001c0001t0035g0136a0001c0001t0039g0112a0001c0002t0014g0058others(6): Show | 9 | 246 | 0.0366 | 12 | c.*30 others(23): 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(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp1 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0058a0001c0001t0001g0063others(23): Show | 57 | 336 | 0.1696 | 12 | c.-61 others(29): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112783691 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 270 | 0.0037 | 12 | c.211 others(31): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 10/13 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112825035 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01952.hp1 HG03710.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0007 | a0001c0002t0002g0245a0002c0003t0007g0008a0002c0003t0007g0179 | 3 | 270 | 0.0111 | 12 | c.-63 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 3/13 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112831445 | C | CAATAAAT others(5): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0196 | 1 | 270 | 0.0037 | 12 | c.-21 others(29): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 2/13 | chrX | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114677795 | C | CTCCTTCC others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0073 | 2 | 358 | 0.0056 | 12 | c.122 others(29): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 9/15 | chr1 | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114677799 | C | CTCCTTCC others(5): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01175.hp1 others(11): Show |
a0001a0013 | a0001c0001a0001c0009a0013c0021 | a0001c0001t0001a0001c0009t0001a0013c0021t0001 | a0001c0001t0001g0022a0001c0001t0001g0038a0001c0001t0001g0040others(8): Show | 14 | 358 | 0.0391 | 12 | c.122 others(28): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 9/15 | chr1 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10450339 | A | AGTGTGTG others(5): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01891.hp1 NA20805.hp2 |
a0001a0005 | a0001c0001a0001c0007a0005c0016 | a0001c0001t0001a0001c0007t0001a0005c0016t0005 | a0001c0001t0001g0125a0001c0007t0001g0334a0005c0016t0005g0199 | 3 | 390 | 0.0077 | 12 | c.-51 others(23): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 4924 | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10492236 | C | CAACACTG others(5): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0312 | 1 | 390 | 0.0026 | 12 | c.940 others(29): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 6/14 | chr11 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38406728 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0127a0001c0003t0002g0268 | 2 | 288 | 0.0069 | 12 | c.139 others(33): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407021 | C | CCTCTCTC others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG02056.hp2 others(7): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0001g0234a0001c0001t0004g0092a0001c0001t0004g0141others(7): Show | 10 | 288 | 0.0347 | 12 | c.139 others(33): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407335 | A | ATCTCTCT others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01515.hp2 HG01517.hp2 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0048a0001c0001t0001g0055others(10): Show | 13 | 288 | 0.0451 | 12 | c.139 others(33): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38416102 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03225.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079a0001c0001t0003g0122a0001c0001t0003g0148others(1): Show | 4 | 288 | 0.0139 | 12 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38422554 | G | GTATCTAT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG01258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0102others(3): Show | 6 | 288 | 0.0208 | 12 | c.121 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 15/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38437639 | A | AAAAAAAG others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00597.hp2 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0058a0001c0001t0001g0252a0001c0001t0003g0016others(50): Show | 53 | 288 | 0.1840 | 12 | c.101 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38467640 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0233a0001c0003t0001g0284 | 2 | 288 | 0.0069 | 12 | c.591 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38473710 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18999.hp1 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038a0001c0002t0002g0129 | 2 | 288 | 0.0069 | 12 | c.590 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525258 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02895.hp2 HG02897.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0002 | a0001c0001t0001g0067a0001c0001t0001g0254a0001c0001t0001g0259others(9): Show | 12 | 288 | 0.0417 | 12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525258 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0083 | 1 | 288 | 0.0035 | 12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525275 | T | TAGAGAGA others(5): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 288 | 0.0035 | 12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525277 | T | TATAGAGA others(5): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0072 | 1 | 288 | 0.0035 | 12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525277 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0125a0001c0003t0001g0284 | 2 | 288 | 0.0069 | 12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525277 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0162 | 1 | 288 | 0.0035 | 12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525277 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0173 | 2 | 288 | 0.0069 | 12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38570927 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 288 | 0.0035 | 12 | c.70- others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38605571 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02895.hp1 HG03130.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0004g0006a0001c0002t0002g0008a0001c0003t0002g0005others(1): Show | 4 | 288 | 0.0139 | 12 | c.69+ others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38620336 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG04115.hp1 HG04184.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0032a0001c0001t0003g0285a0001c0002t0002g0025others(1): Show | 4 | 288 | 0.0139 | 12 | c.69+ others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38620358 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0156a0001c0001t0001g0161a0001c0001t0004g0155others(8): Show | 11 | 288 | 0.0382 | 12 | c.69+ others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38622454 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG03139.hp2 |
a0001a0003 | a0001c0001a0001c0005a0003c0010 | a0001c0001t0004a0001c0005t0001a0003c0010t0002 | a0001c0001t0004g0045a0001c0005t0001g0271a0003c0010t0002g0046 | 3 | 288 | 0.0104 | 12 | c.69+ others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38627387 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01109.hp1 HG01256.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(20): Show | 23 | 288 | 0.0799 | 12 | c.69+ others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38632887 | C | CAGAGAGA others(5): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01433.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0003t0002a0003c0006t0004 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(4): Show | 7 | 288 | 0.0243 | 12 | c.-15 others(23): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1515 | chr7 | TogoVar | ||||||
AMY2A_chr1_103612427_103630780 | 103612754 | T | TACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00733.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0002t0001g0004others(9): Show | 25 | 312 | 0.0801 | 12 | c.-46 others(23): Show |
AMY2A | ENSG00000243480.8 | transcript | ENST00000414303.7 | protein_coding | 4672 | chr1 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2704588 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 NA18906.hp1 |
a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0088a0002c0007t0013g0161a0002c0007t0013g0389 | 3 | 438 | 0.0069 | 12 | c.472 others(29): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AMZ2_chr17_68243043_68262155 | 68246195 | C | CAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 438 | 0.0023 | 12 | c.-25 others(23): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 1847 | chr17 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026920 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02818.hp1 HG03239.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0184a0001c0001t0001g0196others(4): Show | 7 | 336 | 0.0208 | 12 | c.328 others(31): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026920 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0285 | 1 | 336 | 0.0030 | 12 | c.328 others(31): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar |