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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTC38_chr22_46263008_46299008 | 46290614 | TAGGAGGG others(84): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02145.hp1 others(4): Show |
a0001a0005 | a0001c0002a0005c0022 | a0001c0002t0001a0005c0022t0001 | a0001c0002t0001g0120a0001c0002t0001g0121a0001c0002t0001g0122others(4): Show | 7 | 232 | 0.0302 | -91 | c.131 others(108): Show |
TTC38 | ENSG00000075234.17 | transcript | ENST00000381031.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TYMS_chr18_652653_678578 | 666974 | GAGATGGA others(84): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01358.hp1 HG01975.hp1 others(52): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(40): Show | 55 | 482 | 0.1141 | -91 | c.455 others(108): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667529 | AGATGGTG others(84): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0019 | 2 | 482 | 0.0042 | -91 | c.455 others(108): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
UBE2QL1_chr5_6443859_6501723 | 6499430 | TCCTTTTC others(84): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0037 | 1 | 340 | 0.0029 | -91 | c.*80 others(102): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 2708 | chr5 | TogoVar | ||||||
UCN2_chr3_48556718_48568781 | 48561633 | ATCCCATC others(84): Show |
A | splice_region_variant | LOW | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002a0001c0001t0004g0004 | 49 | 302 | 0.1623 | -91 | c.*10 others(102): Show |
UCN2 | ENSG00000145040.4 | transcript | ENST00000273610.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
UCN2_chr3_48556718_48568781 | 48561698 | CATACACA others(84): Show |
C | splice_region_variant | LOW | HG01928.hp2 HG02647.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0006a0001c0001t0014g0017 | 6 | 302 | 0.0199 | -91 | c.*99 others(101): Show |
UCN2 | ENSG00000145040.4 | transcript | ENST00000273610.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466580 | AGGGAGGG others(84): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0011 | a0011c0028 | a0011c0028t0021 | a0011c0028t0021g0002 | 1 | 271 | 0.0037 | -91 | c.*19 others(100): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 71 | chrX | TogoVar | ||||||
VPS53_chr17_503668_719839 | 658076 | CCCACTAA others(84): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0144 | 1 | 232 | 0.0043 | -91 | c.373 others(108): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 5/21 | chr17 | TogoVar | ||||||
WWC2_chr4_183094257_183325777 | 183164307 | TATATTAT others(84): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0007 | 1 | 242 | 0.0041 | -91 | c.132 others(110): Show |
WWC2 | ENSG00000151718.16 | transcript | ENST00000403733.8 | protein_coding | 1/22 | chr4 | TogoVar | ||||||
WWOX_chr16_78094654_79217667 | 78360618 | TTTCACAG others(84): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG00741.hp2 others(36): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0022others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(24): Show | a0001c0001t0001g0021a0001c0001t0001g0085a0001c0001t0006g0071others(36): Show | 39 | 142 | 0.2747 | -91 | c.517 others(110): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
YJU2_chr19_4242080_4274088 | 4247583 | GTGTGTGT others(84): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 384 | 0.0026 | -91 | c.24+ others(104): Show |
YJU2 | ENSG00000105248.16 | transcript | ENST00000262962.12 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
ZMAT4_chr8_40525590_40902826 | 40601614 | GAAAGAAA others(84): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01192.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0032a0001c0001t0001g0056a0001c0001t0001g0057others(18): Show | 21 | 228 | 0.0921 | -91 | c.578 others(110): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | ||||||
ZNF143_chr11_9456012_9533524 | 9486354 | ATATATAT others(84): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143 | 3 | 332 | 0.0090 | -91 | c.645 others(108): Show |
ZNF143 | ENSG00000166478.10 | transcript | ENST00000396602.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ZNF440_chr19_11809273_11840216 | 11811897 | AAAGAAAG others(84): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp1 NA19043.hp1 |
a0006 | a0006c0007 | a0006c0007t0006 | a0006c0007t0006g0084a0006c0007t0006g0085 | 2 | 376 | 0.0053 | -91 | c.-25 others(102): Show |
ZNF440 | ENSG00000171295.13 | transcript | ENST00000304060.10 | protein_coding | 2375 | chr19 | TogoVar | ||||||
ZNF491_chr19_11793523_11813503 | 11811897 | AAAGAAAG others(84): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 NA19043.hp2 |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0043 | 2 | 390 | 0.0051 | -91 | c.*46 others(102): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3395 | chr19 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76394696 | GGGGGGAA others(84): Show |
G | intron_variant | MODIFIER | HG01070.hp2 | a0003 | a0003c0007 | a0003c0007t0048 | a0003c0007t0048g0335 | 1 | 346 | 0.0029 | -91 | c.181 others(112): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF713_chr7_55882456_55947225 | 55887713 | AGGCGGAG others(84): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01256.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0025others(13): Show | a0001c0001t0007g0158a0001c0001t0007g0177a0001c0001t0008g0162others(39): Show | 42 | 410 | 0.1024 | -91 | c.-58 others(107): Show |
ZNF713 | ENSG00000178665.16 | transcript | ENST00000429591.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37023490 | TATTCTTT others(83): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 245 | 0.0041 | -90 | c.154 others(109): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1143210 | ACAGCTCG others(83): Show |
A | intron_variant | MODIFIER | HG01081.hp1 NA18940.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0133a0001c0001t0003g0217a0001c0001t0006g0206 | 3 | 337 | 0.0089 | -90 | c.62- others(107): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1143236 | CTCCTGGG others(83): Show |
C | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0308 | 1 | 337 | 0.0030 | -90 | c.62- others(107): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1143290 | CTCCTGGG others(83): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0001t0061others(1): Show | a0001c0001t0001g0054a0001c0001t0011g0232a0001c0001t0061g0149others(1): Show | 4 | 337 | 0.0119 | -90 | c.62- others(107): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1159383 | GGTACTCA others(83): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0006a0001c0001t0011a0001c0001t0014others(2): Show | a0001c0001t0006g0118a0001c0001t0011g0232a0001c0001t0014g0097others(2): Show | 5 | 337 | 0.0148 | -90 | c.61+ others(107): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109194520 | GTGTGTGT others(83): Show |
G | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0194 | 1 | 308 | 0.0033 | -90 | c.248 others(107): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1289453 | CCGTGTCT others(83): Show |
C | downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 295 | 0.0034 | -90 | c.*40 others(101): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2937 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289480 | TCTGCTCC others(83): Show |
T | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 295 | 0.0034 | -90 | c.*39 others(101): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2910 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289955 | TCTGCTCC others(83): Show |
T | downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 295 | 0.0034 | -90 | c.*35 others(101): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2435 | chr1 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162433 | TATATACA others(83): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp2 |
a0004a0007 | a0004c0008a0007c0023 | a0004c0008t0001a0007c0023t0001 | a0004c0008t0001g0163a0007c0023t0001g0206 | 2 | 228 | 0.0088 | -90 | c.118 others(109): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277721 | CCCCCCGA others(83): Show |
C | intron_variant | MODIFIER | HG02293.hp1 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0184 | 1 | 276 | 0.0036 | -90 | c.535 others(107): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313792 | GCACACAC others(83): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0108 | a0003c0108t0008 | a0003c0108t0008g0207 | 1 | 276 | 0.0036 | -90 | c.534 others(109): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313886 | ACACTCAC others(83): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp1 others(25): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0035a0001c0052others(21): Show | a0001c0001t0001a0001c0035t0004a0001c0052t0002others(22): Show | a0001c0001t0001g0067a0001c0001t0001g0115a0001c0001t0001g0126others(25): Show | 28 | 276 | 0.1015 | -90 | c.534 others(109): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72549991 | AGAGGAAG others(83): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0077a0001c0001t0005g0011 | 2 | 182 | 0.0110 | -90 | c.98- others(105): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 911548 | ACACGGAG others(83): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01993.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | 14 | 0.5000 | -90 | c.389 others(107): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 933799 | GCCGGGGT others(83): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 14 | 0.0714 | -90 | c.213 others(107): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1327283 | TCACTGCC others(83): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0022 | a0001c0001t0017g0030a0001c0001t0022g0015 | 2 | 106 | 0.0189 | -90 | c.107 others(111): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7786567 | CCTGCAAA others(83): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02258.hp1 others(2): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0017a0001c0012t0018 | a0001c0003t0017g0206a0001c0003t0017g0207a0001c0012t0018g0199others(2): Show | 5 | 318 | 0.0157 | -90 | c.141 others(107): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 11/17 | chr4 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15354351 | TATAGACG others(83): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02040.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087a0001c0001t0001g0089a0001c0001t0001g0126others(4): Show | 7 | 236 | 0.0297 | -90 | c.126 others(111): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140622258 | CCACATGG others(83): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG03098.hp1 NA18956.hp1 |
a0001 | a0001c0002a0001c0003a0001c0012 | a0001c0002t0002a0001c0003t0001a0001c0012t0103 | a0001c0002t0002g0267a0001c0003t0001g0313a0001c0012t0103g0213 | 3 | 338 | 0.0089 | -90 | c.22+ others(107): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140622276 | TGGGGGAA others(83): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00642.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(25): Show | a0001c0001t0001g0226a0001c0001t0001g0306a0001c0001t0003g0117others(33): Show | 36 | 338 | 0.1065 | -90 | c.22+ others(107): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140623128 | GCACATGG others(83): Show |
G | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0119 | 1 | 338 | 0.0030 | -90 | c.22+ others(107): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140623194 | GGGGTCTC others(83): Show |
G | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0289 | 1 | 338 | 0.0030 | -90 | c.22+ others(107): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AHCY_chr20_34275268_34308355 | 34306470 | GTGATTCT others(83): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 300 | 0.0033 | -90 | c.-32 others(101): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 3116 | chr20 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132821769 | GTATATGT others(83): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG02273.hp2 HG03225.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0137a0001c0001t0001g0138others(7): Show | 10 | 266 | 0.0376 | -90 | c.889 others(107): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587658 | CTCCCCTC others(83): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG03486.hp1 HG06807.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0002a0001c0001t0001g0109a0004c0007t0001g0002 | 3 | 151 | 0.0199 | -90 | c.-41 others(101): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3945 | chrX | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400281 | ACGTATAT others(83): Show |
A | intron_variant | MODIFIER | HG02559.hp1 NA19043.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0004a0004c0008t0003 | a0001c0001t0004g0098a0004c0008t0003g0203 | 2 | 388 | 0.0052 | -90 | c.168 others(107): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56397955 | AATATATA others(83): Show |
A | intron_variant | MODIFIER | HG03654.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0202a0001c0001t0010g0206 | 2 | 356 | 0.0056 | -90 | c.108 others(109): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70516314 | ATATATAT others(83): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006a0001c0002t0001g0039 | 4 | 458 | 0.0087 | -90 | c.-23 others(101): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2254 | chr4 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107361510 | CTATAGAA others(83): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(125): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(125): Show | 128 | 292 | 0.4384 | -90 | c.298 others(109): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1841802 | AGGAACTG others(83): Show |
A | intron_variant | MODIFIER | HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0012a0001c0023 | a0001c0012t0001a0001c0023t0001 | a0001c0012t0001g0031a0001c0023t0001g0034 | 2 | 363 | 0.0055 | -90 | c.-47 others(107): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1841874 | GGGAACTG others(83): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp1 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0010others(13): Show | a0001c0001t0002g0224a0001c0001t0002g0239a0001c0002t0001g0274others(14): Show | 17 | 363 | 0.0468 | -90 | c.-47 others(107): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1889369 | AGGGGTAT others(83): Show |
A | intron_variant | MODIFIER | NA19064.hp1 NA19091.hp2 |
a0001 | a0001c0112a0001c0114 | a0001c0112t0017a0001c0114t0017 | a0001c0112t0017g0124a0001c0114t0017g0122 | 2 | 363 | 0.0055 | -90 | c.118 others(109): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |