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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALMS1_chr2_73380836_73614916 | 73395076 | ATATTT | A | intron_variant | MODIFIER | HG01099.hp2 HG02145.hp1 HG02630.hp1 others(4): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(4): Show | 7 | 248 | 0.0282 | -5 | c.324 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73483460 | TTTTAC | T | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
a0019a0030 | a0019c0018a0030c0038 | a0019c0018t0001a0030c0038t0001 | a0019c0018t0001g0056a0019c0018t0001g0057a0030c0038t0001g0055 | 3 | 248 | 0.0121 | -5 | c.767 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73508141 | CCCTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(15): Show |
a0002a0006a0019others(3): Show | a0002c0004a0002c0011a0002c0052others(5): Show | a0002c0004t0001a0002c0011t0001a0002c0052t0001others(5): Show | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0051others(15): Show | 18 | 248 | 0.0726 | -5 | c.954 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73551425 | CTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
a0005 | a0005c0005a0005c0058 | a0005c0005t0001a0005c0058t0001 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(8): Show | 11 | 248 | 0.0444 | -5 | c.100 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7004366 | ATTAAT | A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02970.hp2 |
a0003a0006 | a0003c0005a0006c0020 | a0003c0005t0001a0006c0020t0001 | a0003c0005t0001g0040a0006c0020t0001g0112 | 3 | 404 | 0.0074 | -5 | c.116 others(22): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8040647 | GAAAGA | G | intron_variant | MODIFIER | HG00673.hp1 HG01123.hp2 HG01168.hp1 others(22): Show |
a0001a0002a0007others(1): Show | a0001c0005a0002c0002a0007c0012others(1): Show | a0001c0005t0004a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0005t0004g0029a0002c0002t0001g0008a0002c0002t0002g0008others(11): Show | 25 | 470 | 0.0532 | -5 | c.449 others(20): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8052732 | ATAGAT | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01167.hp2 others(51): Show |
a0001a0002a0004others(3): Show | a0001c0029a0002c0002a0004c0006others(6): Show | a0001c0029t0004a0002c0002t0002a0004c0006t0003others(7): Show | a0001c0029t0004g0195a0002c0002t0002g0008a0004c0006t0003g0027others(42): Show | 54 | 470 | 0.1149 | -5 | c.*41 others(16): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3599 | chr17 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30735434 | TAAAAA | T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01952.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0163a0001c0001t0001g0180a0001c0001t0002g0171others(9): Show | 13 | 422 | 0.0308 | -5 | c.-17 others(14): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 108 | chr13 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30756813 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(95): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 98 | 422 | 0.2322 | -5 | c.323 others(20): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45391072 | CCACGG | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00642.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(7): Show | a0001c0001t0001g0063a0001c0001t0001g0067a0001c0001t0001g0167others(53): Show | 62 | 345 | 0.1797 | -5 | c.350 others(22): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107960 | AGGAAG | A | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0003 | a0001c0001t0002g0048a0001c0001t0002g0286a0001c0002t0001g0289others(2): Show | 5 | 422 | 0.0119 | -5 | c.168 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107993 | AGGAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00639.hp2 others(39): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0117a0001c0001t0001g0181a0001c0001t0002g0007others(39): Show | 42 | 422 | 0.0995 | -5 | c.168 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPI_chr2_232451153_232465753 | 232465431 | TTTTTA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(83): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0004g0004others(8): Show | 86 | 446 | 0.1928 | -5 | c.*62 others(16): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 4679 | chr2 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58478794 | TATATA | T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02572.hp2 HG02895.hp2 others(6): Show |
a0002a0006a0010others(3): Show | a0002c0002a0006c0034a0010c0010others(3): Show | a0002c0002t0004a0006c0034t0004a0010c0010t0001others(3): Show | a0002c0002t0004g0280a0006c0034t0004g0247a0010c0010t0001g0186others(6): Show | 9 | 320 | 0.0281 | -5 | c.*30 others(16): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2452 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58483726 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(45): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0016others(18): Show | a0001c0001t0003a0001c0001t0006a0001c0006t0003others(23): Show | a0001c0001t0003g0191a0001c0001t0003g0198a0001c0001t0003g0203others(45): Show | 48 | 320 | 0.1500 | -5 | c.629 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58512739 | TATGTG | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(90): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0006a0001c0016others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0171others(90): Show | 93 | 320 | 0.2906 | -5 | c.602 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 10/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58512825 | AGGTGT | A | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01993.hp2 others(1): Show |
a0012a0018a0050 | a0012c0083a0018c0028a0050c0050 | a0012c0083t0010a0018c0028t0006a0018c0028t0019others(1): Show | a0012c0083t0010g0103a0018c0028t0006g0049a0018c0028t0019g0050others(1): Show | 4 | 320 | 0.0125 | -5 | c.602 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 10/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58553845 | TTTTGG | T | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG01243.hp1 others(34): Show |
a0002a0003a0006others(17): Show | a0002c0002a0003c0003a0006c0015others(22): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(28): Show | a0002c0002t0001g0178a0002c0002t0001g0221a0002c0002t0002g0002others(34): Show | 37 | 320 | 0.1156 | -5 | c.196 others(26): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84848298 | TATATA | T | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0010 | a0001c0004t0007g0033a0001c0004t0007g0279a0001c0004t0007g0281others(1): Show | 5 | 340 | 0.0147 | -5 | c.165 others(24): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84861789 | GCCCTA | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(299): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0004others(42): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(78): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0019others(264): Show | 302 | 340 | 0.8882 | -5 | c.413 others(22): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21527015 | GTTCTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00733.hp1 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0234others(67): Show | 71 | 370 | 0.1919 | -5 | c.-10 others(26): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPP_chr2_232373751_232387889 | 232374643 | TAAAAG | T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02717.hp2 others(6): Show |
a0002a0018 | a0002c0002a0002c0006a0018c0026 | a0002c0002t0003a0002c0006t0003a0018c0026t0003 | a0002c0002t0003g0002a0002c0006t0003g0002a0018c0026t0003g0002 | 9 | 410 | 0.0220 | -5 | c.-41 others(16): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 4107 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201713743 | GTATTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(112): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(101): Show | 115 | 354 | 0.3249 | -5 | c.400 others(24): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 25/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201727303 | CCAGGA | C | intron_variant | MODIFIER | HG01884.hp1 HG02027.hp2 HG02145.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0157a0001c0004t0001g0216a0001c0004t0003g0029 | 3 | 354 | 0.0085 | -5 | c.291 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 16/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201730671 | TCTCAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00642.hp2 others(21): Show |
a0001a0002a0014 | a0001c0001a0001c0004a0002c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(2): Show | a0001c0001t0001g0217a0001c0004t0001g0003a0001c0004t0001g0005others(19): Show | 24 | 354 | 0.0678 | -5 | c.258 others(24): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 13/33 | chr2 | TogoVar | ||||||
ALX1_chr12_85275220_85306784 | 85293238 | GAATAA | G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(61): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0017others(23): Show | 64 | 384 | 0.1667 | -5 | c.660 others(22): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALX3_chr1_110054870_110075672 | 110062640 | TGTGTG | T | intron_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG01515.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0118others(5): Show | 12 | 422 | 0.0284 | -5 | c.595 others(22): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44293156 | GAAGGA | G | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01175.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(5): Show | a0001c0001t0001g0248a0001c0001t0002g0233a0001c0002t0007g0249others(5): Show | 8 | 388 | 0.0206 | -5 | c.466 others(24): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44297722 | TAATAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(343): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(122): Show | a0001c0001t0001g0003a0001c0001t0001g0203a0001c0001t0001g0227others(337): Show | 346 | 388 | 0.8918 | -5 | c.466 others(24): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALYREF_chr17_81882835_81896586 | 81882891 | TTAAAA | T | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 322 | 0.0093 | -5 | c.*52 others(16): Show |
ALYREF | ENSG00000183684.8 | transcript | ENST00000505490.3 | protein_coding | 4943 | chr17 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 34012740 | ATGTTT | A | upstream_gene_variant | MODIFIER | HG01071.hp1 HG01928.hp1 HG02293.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0005 | 3 | 438 | 0.0069 | -5 | c.-47 others(16): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4691 | chr5 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46439360 | TAGAAC | T | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | -5 | c.263 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 12/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | CAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0043a0001c0001t0001g0048a0001c0001t0001g0104others(11): Show | 14 | 160 | 0.0875 | -5 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46590017 | TCAAAA | T | intron_variant | MODIFIER | HG00673.hp2 NA18747.hp2 NA18942.hp1 others(2): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(2): Show | 5 | 160 | 0.0313 | -5 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110870699 | GTTCCT | G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0119a0001c0001t0004g0019a0001c0001t0004g0046 | 7 | 394 | 0.0178 | -5 | c.-44 others(16): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 4085 | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110895450 | TTTTTG | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(198): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0007others(61): Show | 201 | 394 | 0.5102 | -5 | c.*18 others(16): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 9/9 | 1858 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
AMD1_chr6_110869785_110900713 | 110897424 | CATCTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(95): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0012a0002c0002t0002 | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0007others(21): Show | 98 | 394 | 0.2487 | -5 | c.*38 others(16): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 1712 | chr6 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95940887 | CAAACA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(194): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(149): Show | 197 | 404 | 0.4876 | -5 | c.-25 others(16): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 2443 | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02280.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0011a0001c0001t0001g0075a0001c0002t0002g0006others(1): Show | 10 | 318 | 0.0315 | -5 | c.*38 others(16): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189553 | TATATA | T | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0133 | 1 | 243 | 0.0041 | -5 | c.*32 others(14): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 321 | chrX | TogoVar | |||||
AMIGO1_chr1_109499178_109514727 | 109511254 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02723.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015 | a0001c0001t0001g0001a0001c0001t0007g0007a0001c0001t0015g0017 | 6 | 400 | 0.0150 | -5 | c.-19 others(16): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1528 | chr1 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127862865 | GATAAA | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00673.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(6): Show | a0001c0001t0003g0002a0001c0001t0003g0004a0001c0001t0003g0005others(35): Show | 75 | 334 | 0.2246 | -5 | c.*22 others(16): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 8/8 | 2224 | chr2 | TogoVar | |||||
AMMECR1_chrX_110189186_110323085 | 110240508 | TCAATG | T | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0075 | 1 | 155 | 0.0065 | -5 | c.585 others(24): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110248390 | AAAAAG | A | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01243.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0126a0001c0001t0002g0127a0001c0001t0002g0129others(9): Show | 13 | 155 | 0.0839 | -5 | c.584 others(24): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110261351 | TTTTTG | T | intron_variant | MODIFIER | NA18959.hp1 NA18962.hp1 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0040a0001c0001t0001g0050 | 6 | 155 | 0.0387 | -5 | c.584 others(22): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31672811 | AGGTAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0033others(62): Show | 70 | 432 | 0.1620 | -5 | c.704 others(20): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31680192 | ATTTTC | A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0277a0001c0002t0001g0325a0001c0002t0007g0278others(1): Show | 4 | 432 | 0.0093 | -5 | c.704 others(22): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31706989 | TAAGAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0112a0001c0001t0002g0012a0001c0001t0002g0016others(67): Show | 75 | 432 | 0.1736 | -5 | c.171 others(22): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
AMN_chr14_102917663_102935842 | 102932901 | CGGGGT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01109.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0021others(28): Show | 43 | 452 | 0.0951 | -5 | c.*22 others(16): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 2060 | chr14 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94857571 | TAAAAG | T | intron_variant | MODIFIER | HG02572.hp1 HG02970.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0042 | a0001c0001t0022g0009a0001c0001t0022g0151a0001c0001t0042g0009 | 3 | 246 | 0.0122 | -5 | c.194 others(24): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |