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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALX4_chr11_44255440_44315139 | 44314873 | C | CTCCT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(120): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0195others(352): Show | 362 | 388 | 0.9330 | 4 | c.-48 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4735 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44314979 | C | CCCTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(364): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(122): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0195others(357): Show | 367 | 388 | 0.9459 | 4 | c.-49 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4841 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44315053 | C | CCCTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(118): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0195others(349): Show | 359 | 388 | 0.9253 | 4 | c.-49 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4915 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44315065 | T | TCCTC | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02896.hp2 others(2): Show |
a0003 | a0003c0006a0003c0010a0003c0014 | a0003c0006t0024a0003c0010t0001a0003c0010t0048others(1): Show | a0003c0006t0024g0020a0003c0006t0024g0027a0003c0010t0001g0016others(2): Show | 5 | 388 | 0.0129 | 4 | c.-50 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4927 | chr11 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 34010803 | T | TTAGA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(238): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0010others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0017a0001c0001t0001g0096a0001c0001t0001g0108others(113): Show | 241 | 438 | 0.5502 | 4 | c.-27 others(15): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 2754 | chr5 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588722 | T | TATAA | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02738.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0002a0001c0001t0001g0130a0001c0002t0002g0043 | 3 | 480 | 0.0063 | 4 | c.-36 others(15): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3533 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70590506 | G | GCACA | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01167.hp2 HG01891.hp2 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0034a0001c0001t0001g0048a0001c0001t0001g0049others(23): Show | 29 | 480 | 0.0604 | 4 | c.-18 others(15): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1749 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70597956 | C | CTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(95): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0031others(51): Show | 98 | 480 | 0.2042 | 4 | c.136 others(19): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMBP_chr9_114055127_114083300 | 114064721 | T | TCAAA | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0081a0001c0001t0001g0160a0001c0001t0001g0169others(16): Show | 24 | 454 | 0.0529 | 4 | c.604 others(21): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114066376 | C | CGTGT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00609.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0022others(19): Show | 37 | 454 | 0.0815 | 4 | c.603 others(21): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114067407 | A | AAAAC | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009a0001c0001t0001g0200a0001c0001t0001g0303others(2): Show | 11 | 454 | 0.0242 | 4 | c.603 others(21): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114074632 | C | CTTAG | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0081a0001c0001t0001g0160a0001c0001t0001g0169others(16): Show | 24 | 454 | 0.0529 | 4 | c.337 others(19): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | T | TTGTG | intron_variant | MODIFIER | HG00621.hp2 HG02965.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0060others(3): Show | 6 | 160 | 0.0375 | 4 | c.297 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46445382 | G | GACAA | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | 4 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46459739 | T | TACAC | intron_variant | MODIFIER | HG02572.hp2 NA18972.hp1 NA19082.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0053a0001c0001t0001g0108a0001c0002t0002g0151 | 3 | 160 | 0.0188 | 4 | c.252 others(25): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46486908 | C | CATAA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01884.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0001a0001c0003t0001a0002c0011t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0042others(11): Show | 14 | 160 | 0.0875 | 4 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46507176 | C | CAAAA | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | 4 | c.233 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 9/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46551311 | C | CTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(65): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0027others(65): Show | 68 | 160 | 0.4250 | 4 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46562736 | G | GAATT | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | 4 | c.-12 others(25): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110898194 | A | AAGAT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0007others(14): Show | 63 | 394 | 0.1599 | 4 | c.*45 others(15): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 2482 | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110898198 | G | GATAT | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0067a0001c0001t0001g0098 | 3 | 394 | 0.0076 | 4 | c.*45 others(15): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 2486 | chr6 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95944327 | T | TTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(151): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(115): Show | 154 | 404 | 0.3812 | 4 | c.137 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95946059 | C | CTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(110): Show |
a0001a0009 | a0001c0001a0001c0007a0009c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(74): Show | 113 | 404 | 0.2797 | 4 | c.137 others(21): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTGTG | intron_variant | MODIFIER | HG00140.hp2 HG02258.hp1 HG02622.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0146others(7): Show | 11 | 404 | 0.0272 | 4 | c.137 others(21): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95954569 | A | AAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(191): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(140): Show | 194 | 404 | 0.4802 | 4 | c.245 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95963389 | G | GCTCC | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG01975.hp1 others(9): Show |
a0001a0008 | a0001c0002a0008c0014 | a0001c0002t0003a0008c0014t0003 | a0001c0002t0003g0018a0001c0002t0003g0261a0001c0002t0003g0262others(7): Show | 12 | 404 | 0.0297 | 4 | c.938 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2517713 | T | TTGTG | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01081.hp2 others(33): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(12): Show | 36 | 318 | 0.1132 | 4 | c.-27 others(15): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2520251 | G | GGGGC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(6): Show | 17 | 318 | 0.0535 | 4 | c.-20 others(13): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 119 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | A | ATTTT | downstream_gene_variant | MODIFIER | HG02165.hp1 HG02602.hp2 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(4): Show | 10 | 318 | 0.0315 | 4 | c.*38 others(15): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | ||||||
AMELX_chrX_11288413_11305761 | 11294242 | G | GTAGA | intron_variant | MODIFIER | HG01175.hp2 HG02723.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020 | 3 | 300 | 0.0100 | 4 | c.-12 others(19): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AMELX_chrX_11288413_11305761 | 11298633 | A | ACACC | frameshift_variant | HIGH | NA19055.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0034 | 1 | 300 | 0.0033 | 4 | c.232 others(11): Show |
p.Leu others(4): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 5/6 | 304/793 | 236/576 | 79/191 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AMER1_chrX_64180117_64210708 | 64189484 | A | ATGTG | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0003a0002c0002t0092 | a0001c0003t0003g0052a0002c0002t0003g0006a0002c0002t0003g0015others(3): Show | 11 | 243 | 0.0453 | 4 | c.*39 others(13): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 394 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTATA | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG04204.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0015a0001c0001t0079a0001c0007t0015 | a0001c0001t0015g0120a0001c0001t0015g0147a0001c0001t0015g0168others(2): Show | 5 | 243 | 0.0206 | 4 | c.*36 others(13): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTA | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01975.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0023a0001c0003t0022a0003c0004t0023 | a0001c0001t0023g0086a0001c0001t0023g0117a0001c0003t0022g0008others(1): Show | 6 | 243 | 0.0247 | 4 | c.*36 others(13): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64201448 | A | AACAC | intron_variant | MODIFIER | HG00423.hp1 HG02257.hp1 NA18955.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0084a0001c0001t0002g0170a0001c0001t0008g0020others(5): Show | 9 | 243 | 0.0370 | 4 | c.-99 others(21): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 1/1 | chrX | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159105 | T | TATAA | downstream_gene_variant | MODIFIER | HG03225.hp2 HG03453.hp1 HG03831.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0027a0004c0004t0026 | a0001c0001t0001g0000a0001c0001t0027g0000a0004c0004t0026g0000 | 6 | 416 | 0.0144 | 4 | c.*10 others(17): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2573 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174741 | T | TCCTC | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01109.hp2 HG01192.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0004g0000a0001c0001t0005g0000a0001c0001t0006g0000others(11): Show | 36 | 416 | 0.0865 | 4 | c.-31 others(15): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2454 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174782 | T | TTTCC | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01361.hp2 HG01884.hp1 others(22): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0004g0000others(16): Show | 25 | 416 | 0.0601 | 4 | c.-31 others(15): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2495 | chr13 | TogoVar | ||||||
AMER3_chr2_130750540_130773134 | 130752076 | T | TTAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(108): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0016a0001c0021others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(45): Show | 111 | 360 | 0.3083 | 4 | c.-36 others(15): Show |
AMER3 | ENSG00000178171.12 | transcript | ENST00000321420.5 | protein_coding | 3463 | chr2 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56360588 | C | CAGAA | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0002c0003t0014 | a0001c0001t0014g0136a0001c0001t0014g0137a0002c0003t0014g0138others(1): Show | 4 | 356 | 0.0112 | 4 | c.*23 others(15): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 863 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56384703 | T | TACAC | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00733.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0020a0001c0001t0024 | a0001c0001t0010g0204a0001c0001t0020g0219a0001c0001t0024g0098others(1): Show | 4 | 356 | 0.0112 | 4 | c.138 others(23): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109503476 | T | TTATA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG01978.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0002a0001c0001t0003g0003a0001c0001t0005g0005others(4): Show | 26 | 400 | 0.0650 | 4 | c.*39 others(15): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127867796 | A | AAAGG | intron_variant | MODIFIER | HG01175.hp2 HG02723.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0178a0001c0001t0010g0169a0001c0001t0010g0170 | 3 | 334 | 0.0090 | 4 | c.725 others(19): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127875799 | C | CTCTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(128): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0012others(93): Show | 131 | 334 | 0.3922 | 4 | c.-38 others(21): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127877036 | C | CATAT | intron_variant | MODIFIER | HG00642.hp2 HG01516.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0022a0001c0001t0004g0179a0001c0001t0004g0181 | 4 | 334 | 0.0120 | 4 | c.-38 others(21): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127880773 | T | TACAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(61): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0078a0001c0001t0002g0006a0001c0001t0002g0007others(39): Show | 64 | 334 | 0.1916 | 4 | c.-39 others(21): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110196175 | A | ATATG | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0126a0001c0001t0002g0127a0001c0001t0002g0129others(4): Show | 7 | 155 | 0.0452 | 4 | c.*23 others(15): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 6/6 | 2344 | chrX | TogoVar | |||||
AMMECR1_chrX_110189186_110323085 | 110217502 | T | TACAC | intron_variant | MODIFIER | HG03516.hp1 HG03710.hp1 NA18982.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020a0001c0001t0001g0056a0001c0001t0001g0087others(3): Show | 6 | 155 | 0.0387 | 4 | c.585 others(19): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110264641 | T | TTCAA | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 155 | 0.0065 | 4 | c.474 others(17): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 1/5 | chrX | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31666648 | T | TTTTA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(92): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0033others(84): Show | 95 | 432 | 0.2199 | 4 | c.*56 others(15): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 4493 | chr12 | TogoVar |