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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8845862 | AAATAAAT others(20): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02451.hp2 others(8): Show |
a0004a0014a0015others(2): Show | a0004c0014a0004c0064a0014c0063others(3): Show | a0004c0014t0004a0004c0064t0002a0014c0063t0001others(3): Show | a0004c0014t0004g0159a0004c0014t0004g0215a0004c0014t0004g0237others(8): Show | 11 | 368 | 0.0299 | -27 | c.153 others(44): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A4GALT_chr22_42687121_42725870 | 42687692 | CAGGATCC others(20): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(136): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(133): Show | 139 | 406 | 0.3424 | -27 | c.*51 others(38): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 4428 | chr22 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81119632 | CGGCCCCG others(20): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01168.hp1 HG01261.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0009others(3): Show | a0001c0001t0001a0001c0001t0016a0002c0002t0001others(4): Show | a0001c0001t0001g0030a0001c0001t0016g0291a0002c0002t0001g0304others(7): Show | 10 | 368 | 0.0272 | -27 | c.388 others(42): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/13 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8769557 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0330 | 1 | 362 | 0.0028 | -27 | c.816 others(42): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA10_chr17_69143007_69233824 | 69146307 | TATATGGA others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01346.hp2 NA18522.hp2 |
a0001a0006a0019 | a0001c0001a0006c0016a0019c0037 | a0001c0001t0002a0006c0016t0004a0019c0037t0007 | a0001c0001t0002g0263a0006c0016t0004g0186a0019c0037t0007g0331 | 3 | 348 | 0.0086 | -27 | c.*24 others(38): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1699 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69211305 | CATATATA others(20): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02451.hp1 others(2): Show |
a0009a0010a0013 | a0009c0022a0010c0010a0013c0021 | a0009c0022t0012a0010c0010t0006a0013c0021t0006 | a0009c0022t0012g0136a0010c0010t0006g0135a0010c0010t0006g0140others(2): Show | 5 | 348 | 0.0144 | -27 | c.100 others(46): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862644 | CGGGCCGG others(20): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG04199.hp1 |
a0001 | a0001c0001a0001c0109 | a0001c0001t0001a0001c0109t0001 | a0001c0001t0001g0238a0001c0109t0001g0232 | 2 | 318 | 0.0063 | -27 | c.422 others(42): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862664 | CGGGCCGG others(20): Show |
C | intron_variant | MODIFIER | NA18942.hp1 NA18984.hp2 NA19060.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0005t0002a0001c0005t0010 | a0001c0001t0006g0225a0001c0005t0002g0123a0001c0005t0002g0129others(1): Show | 4 | 318 | 0.0126 | -27 | c.422 others(42): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146307 | TATATGGA others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01346.hp1 NA18522.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0001 | a0002c0002t0001g0227a0002c0002t0002g0028a0003c0003t0001g0010 | 3 | 326 | 0.0092 | -27 | c.-46 others(38): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4413 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(73): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(73): Show | 76 | 274 | 0.2774 | -27 | c.150 others(42): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68987739 | TTTTTTTG others(20): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03516.hp1 HG03516.hp2 |
a0018a0019a0023 | a0018c0022a0019c0023a0023c0019 | a0018c0022t0003a0019c0023t0003a0023c0019t0003 | a0018c0022t0003g0014a0019c0023t0003g0013a0023c0019t0003g0055 | 3 | 312 | 0.0096 | -27 | c.404 others(46): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 31/38 | chr17 | TogoVar | ||||||
ABCC11_chr16_48160773_48252539 | 48167586 | TTCACGGA others(20): Show |
T | disruptive_inframe_deletion | MODERATE | HG02293.hp1 | a0020 | a0020c0033 | a0020c0033t0001 | a0020c0033t0001g0117 | 1 | 158 | 0.0063 | -27 | c.393 others(36): Show |
p.Asp others(15): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 29/30 | 4209/5894 | 3939/4149 | 1313/1382 | chr16 | TogoVar | ||
ABCC3_chr17_50629881_50697253 | 50673980 | CTCTCTCT others(20): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0070 | 1 | 342 | 0.0029 | -27 | c.259 others(44): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95054021 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01361.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0083a0001c0001t0001g0169a0001c0001t0001g0189others(3): Show | 6 | 248 | 0.0242 | -27 | c.336 others(44): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183963697 | AATTCCCC others(20): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(30): Show |
a0001 | a0001c0004a0001c0005a0001c0016 | a0001c0004t0002a0001c0004t0004a0001c0005t0010others(1): Show | a0001c0004t0002g0070a0001c0004t0002g0304a0001c0004t0004g0112others(30): Show | 33 | 378 | 0.0873 | -27 | c.203 others(44): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 14/29 | chr3 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21866354 | TAGAGGGA others(20): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0042 | 1 | 212 | 0.0047 | -27 | c.219 others(46): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 18/39 | chr12 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43835237 | ACATTGGC others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(183): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0010a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(145): Show | 186 | 330 | 0.5636 | -27 | c.265 others(44): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43835237 | ACATTGGC others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(167): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(71): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(154): Show | 170 | 318 | 0.5346 | -27 | c.-38 others(38): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3733 | chr2 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21695589 | TTTTGCCA others(20): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0275a0001c0001t0018g0290 | 2 | 304 | 0.0066 | -27 | c.509 others(44): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843466 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 358 | 0.0028 | -27 | c.117 others(46): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843468 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0097 | 1 | 358 | 0.0028 | -27 | c.117 others(46): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABRACL_chr6_139023745_139048302 | 139027377 | TTCTTTTG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 448 | 0.0022 | -27 | c.-15 others(38): Show |
ABRACL | ENSG00000146386.8 | transcript | ENST00000367660.4 | protein_coding | 1367 | chr6 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1031902 | GTCCCTCC others(20): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0018a0001c0013t0018 | a0001c0001t0018g0111a0001c0013t0018g0108 | 2 | 337 | 0.0059 | -27 | c.179 others(48): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1080570 | GTGCCCAG others(20): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0024 | 1 | 337 | 0.0030 | -27 | c.640 others(44): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37260276 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0296 | 1 | 299 | 0.0033 | -27 | c.133 others(44): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 11/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109211335 | GATTCCTC others(20): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0020 | a0002c0020t0003 | a0002c0020t0003g0273 | 1 | 308 | 0.0033 | -27 | c.325 others(46): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045145 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 374 | 0.0027 | -27 | c.900 others(42): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACBD5_chr10_27190214_27245797 | 27239456 | CAGCCAGA others(20): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0161 | 1 | 384 | 0.0026 | -27 | c.181 others(42): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2/12 | chr10 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44087204 | TAGCTGGG others(20): Show |
T | downstream_gene_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0149 | 1 | 438 | 0.0023 | -27 | c.*34 others(38): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 2968 | chr11 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6311625 | GAGGAGGA others(20): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 396 | 0.0025 | -27 | c.350 others(42): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41879647 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0061others(6): Show | 9 | 294 | 0.0306 | -27 | c.226 others(44): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599176 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0124 | 1 | 388 | 0.0026 | -27 | c.765 others(41): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOX2_chr3_58500136_58542190 | 58510644 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0048 | 1 | 364 | 0.0028 | -27 | c.185 others(46): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58510646 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0049 | 1 | 364 | 0.0028 | -27 | c.185 others(46): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58510648 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02818.hp2 |
a0001a0006 | a0001c0002a0006c0015 | a0001c0002t0002a0006c0015t0001 | a0001c0002t0002g0053a0001c0002t0002g0054a0006c0015t0001g0044 | 3 | 364 | 0.0082 | -27 | c.185 others(46): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58510654 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0100 | 1 | 364 | 0.0028 | -27 | c.185 others(46): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACR_chr22_50733204_50750339 | 50748710 | ATCTGAGG others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0067a0001c0001t0001g0068 | 9 | 464 | 0.0194 | -27 | c.*35 others(38): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3372 | chr22 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20467331 | GATTGAGT others(20): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01071.hp2 others(47): Show |
a0003a0004a0006 | a0003c0003a0003c0023a0004c0004others(2): Show | a0003c0003t0002a0003c0003t0003a0003c0023t0002others(6): Show | a0003c0003t0002g0034a0003c0003t0002g0037a0003c0003t0002g0339others(43): Show | 50 | 436 | 0.1147 | -27 | c.388 others(44): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 366 | 0.0027 | -27 | c.-25 others(46): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38673636 | TTTATATA others(20): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02735.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0038 | a0001c0001t0022g0198a0001c0001t0022g0199a0001c0001t0038g0158 | 3 | 314 | 0.0096 | -27 | c.162 others(46): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38736008 | AGGTCTCG others(20): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 314 | 0.0032 | -27 | c.*65 others(38): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4420 | chr19 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150244067 | GTATAGTC others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(32): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0083a0001c0001t0001g0087a0001c0001t0001g0120others(31): Show | 35 | 294 | 0.1191 | -27 | c.*35 others(38): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 3144 | chr7 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147929364 | TTTCTTTT others(20): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0211 | 1 | 338 | 0.0030 | -27 | c.*20 others(38): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 11/11 | 2091 | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54108612 | CTGGTGGC others(20): Show |
C | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0222 | 1 | 272 | 0.0037 | -27 | c.278 others(46): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADA2_chr22_17173790_17224435 | 17182776 | ATGGTCTT others(20): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0364 | 1 | 408 | 0.0025 | -27 | c.108 others(42): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0182 | 1 | 342 | 0.0029 | -27 | c.*43 others(38): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4371 | chr15 | TogoVar | |||||
ADAM12_chr10_126007391_126393477 | 126121111 | GTATATAT others(20): Show |
G | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0088 | 1 | 252 | 0.0040 | -27 | c.417 others(44): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39044582 | TCAGCCCT others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(273): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(273): Show | 276 | 332 | 0.8313 | -27 | c.130 others(46): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS12_chr5_33518535_33896990 | 33626374 | ATGGGGGT others(20): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0034 | a0004c0034t0025 | a0004c0034t0025g0194 | 1 | 224 | 0.0045 | -27 | c.202 others(46): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 13/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33682488 | ATAAGACT others(20): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0008 | a0008c0055 | a0008c0055t0001 | a0008c0055t0001g0176 | 1 | 224 | 0.0045 | -27 | c.915 others(42): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 5/23 | chr5 | TogoVar |