view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SSH2_chr17_29620938_29935228 | 29895624 | GAAATATA others(82): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0012 | a0012c0013 | a0012c0013t0023 | a0012c0013t0023g0126 | 1 | 226 | 0.0044 | -89 | c.63+ others(106): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32941507 | AGCTCCCA others(82): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 184 | 0.0054 | -89 | c.370 others(108): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155190862 | TGTCTGGG others(82): Show |
T | downstream_gene_variant | MODIFIER | HG01975.hp2 HG03492.hp1 HG03579.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0002c0002t0001g0003 |
6 | 277 | 0.0217 | -89 | c.*48 others(100): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4725 | chr1 | TogoVar | |||||||
THSD4_chr15_71110471_71788383 | 71564733 | TATAATAC others(82): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02809.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0015 | a0001c0001t0001a0001c0001t0013a0001c0001t0030others(4): Show | a0001c0001t0001g0096 a0001c0001t0013g0097 a0001c0001t0030g0035 others(4): Show |
7 | 116 | 0.0603 | -89 | c.115 others(110): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TMEM104_chr17_74771499_74844753 | 74801385 | CGAGGTGT others(82): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0025a0001c0010t0018 | a0001c0001t0025g0220 a0001c0010t0018g0286 |
2 | 302 | 0.0066 | -89 | c.636 others(106): Show |
TMEM104 | ENSG00000109066.14 | transcript | ENST00000335464.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TNK2_chr3_195858364_195913551 | 195875048 | GCTCGGAG others(82): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0226 | 1 | 370 | 0.0027 | -89 | c.125 others(108): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1417601 | TATCAGGC others(82): Show |
T | intron_variant | MODIFIER | HG01975.hp1 HG02145.hp1 HG02572.hp1 others(7): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0094 a0001c0001t0002g0046 a0002c0002t0001g0006 others(7): Show |
10 | 128 | 0.0781 | -89 | c.94+ others(104): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRERF1_chr6_42219931_42456926 | 42262434 | CAGAGAGA others(82): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG02080.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0001g0058 a0001c0001t0001g0083 a0001c0001t0010g0067 others(5): Show |
8 | 56 | 0.1429 | -89 | c.188 others(106): Show |
TRERF1 | ENSG00000124496.13 | transcript | ENST00000695948.1 | protein_coding | 8/17 | chr6 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028805 | CACCCTCG others(82): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0122 | 1 | 214 | 0.0047 | -89 | c.225 others(108): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028886 | ACCCCACA others(82): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0128 | 1 | 169 | 0.0059 | -89 | c.225 others(108): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667233 | AGATGGAG others(82): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 315 | 0.0032 | -89 | c.455 others(106): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667263 | AGATGGTG others(82): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0097 | 1 | 287 | 0.0035 | -89 | c.455 others(106): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667416 | GGTGATGG others(82): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 480 | 0.0021 | -89 | c.455 others(106): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
UBE2S_chr19_55394745_55412788 | 55394876 | CATGAAAA others(82): Show |
C | downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 358 | 0.0028 | -89 | c.*64 others(100): Show |
UBE2S | ENSG00000108106.14 | transcript | ENST00000264552.14 | protein_coding | 4868 | chr19 | TogoVar | |||||||
UBXN8_chr8_30739164_30772006 | 30750763 | ACTCTGTC others(82): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 272 | 0.0037 | -89 | c.89- others(102): Show |
UBXN8 | ENSG00000104691.16 | transcript | ENST00000265616.10 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
UGT1A10_chr2_233631448_233778300 | 233682007 | AAGGCAGG others(82): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 300 | 0.0033 | -89 | c.855 others(108): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
UGT1A7_chr2_233676901_233778300 | 233682007 | AAGGCAGG others(82): Show |
A | frameshift_variant | HIGH | HG01167.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0036 | 1 | 318 | 0.0031 | -89 | c.71_ others(95): Show |
p.Lys others(4): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/5 | 108/2371 | 71/1593 | 24/530 | chr2 | TogoVar | |||
UGT1A8_chr2_233612633_233778300 | 233682007 | AAGGCAGG others(82): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 288 | 0.0035 | -89 | c.855 others(108): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
UGT1A9_chr2_233666898_233778300 | 233682007 | AAGGCAGG others(82): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 316 | 0.0032 | -89 | c.855 others(106): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397340 | CCGCCCCC others(82): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02155.hp1 others(9): Show |
a0001a0007 | a0001c0001a0007c0023 | a0001c0001t0001a0001c0001t0021a0001c0001t0071others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0038 others(9): Show |
12 | 231 | 0.0519 | -89 | c.735 others(103): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397515 | CCACCCCG others(82): Show |
C | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0005 | a0001c0005t0029 | a0001c0005t0029g0310 | 1 | 307 | 0.0033 | -89 | c.735 others(104): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27991235 | ATAGGTAT others(82): Show |
A | upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 424 | 0.0024 | -89 | c.-26 others(100): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2543 | chr13 | TogoVar | |||||||
USP40_chr2_233470526_233571782 | 233567245 | TCTTATAT others(82): Show |
T | upstream_gene_variant | MODIFIER | NA19003.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0273 | 1 | 311 | 0.0032 | -89 | c.-67 others(98): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 464 | chr2 | TogoVar | |||||||
WASF2_chr1_27399230_27495167 | 27489364 | CACACACA others(82): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0231 | 1 | 258 | 0.0039 | -89 | c.-44 others(104): Show |
WASF2 | ENSG00000158195.11 | transcript | ENST00000618852.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
WDR93_chr15_89685811_89748638 | 89746274 | GCAGCATC others(82): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02717.hp2 HG02922.hp2 others(1): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0064 a0008c0009t0001g0065 a0008c0009t0001g0066 others(1): Show |
4 | 350 | 0.0114 | -89 | c.*28 others(100): Show |
WDR93 | ENSG00000140527.15 | transcript | ENST00000268130.12 | protein_coding | 2637 | chr15 | TogoVar | |||||||
WWP2_chr16_69757332_69946739 | 69944770 | AGCTTGCA others(82): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(224): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(30): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(224): Show |
227 | 312 | 0.7276 | -89 | c.*48 others(100): Show |
WWP2 | ENSG00000198373.13 | transcript | ENST00000359154.7 | protein_coding | 3032 | chr16 | TogoVar | |||||||
XXYLT1_chr3_195063284_195276159 | 195212004 | AGGAAGAT others(82): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0085 | 1 | 196 | 0.0051 | -89 | c.652 others(108): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
ZFAT_chr8_134472788_134718031 | 134543237 | CCCCAGAT others(82): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 |
a0001a0002 | a0001c0031a0002c0007 | a0001c0031t0002a0002c0007t0002 | a0001c0031t0002g0116 a0002c0007t0002g0206 |
2 | 272 | 0.0074 | -89 | c.297 others(110): Show |
ZFAT | ENSG00000066827.16 | transcript | ENST00000377838.8 | protein_coding | 11/15 | chr8 | TogoVar | |||||||
ZKSCAN4_chr6_28236697_28257269 | 28256335 | GGAAGGAC others(82): Show |
G | upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0026 | 1 | 418 | 0.0024 | -89 | c.-44 others(100): Show |
ZKSCAN4 | ENSG00000187626.9 | transcript | ENST00000377294.3 | protein_coding | 4067 | chr6 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40601549 | GAGAAAGA others(82): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0197 | 1 | 223 | 0.0045 | -89 | c.578 others(108): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
ZMYM1_chr1_35074385_35120859 | 35119412 | GAAATAGT others(82): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp1 NA18522.hp2 NA20300.hp2 |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0331 a0004c0005t0005g0332 a0004c0005t0005g0333 |
3 | 372 | 0.0081 | -89 | c.*41 others(100): Show |
ZMYM1 | ENSG00000197056.11 | transcript | ENST00000359858.9 | protein_coding | 3554 | chr1 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(81): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG04199.hp2 NA18969.hp1 others(4): Show |
a0002a0004a0005 | a0002c0015a0004c0006a0005c0018 | a0002c0015t0007a0004c0006t0001a0004c0006t0002others(1): Show | a0002c0015t0007g0091 a0004c0006t0001g0005 a0004c0006t0001g0144 others(4): Show |
7 | 63 | 0.1111 | -88 | c.116 others(107): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149191592 | GAAAAATA others(81): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG01884.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(8): Show | a0001c0001t0001g0142 a0001c0001t0002g0144 a0001c0001t0009g0075 others(15): Show |
18 | 256 | 0.0703 | -88 | c.152 others(105): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1052889 | GGAGGGTT others(81): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02809.hp1 |
a0001 | a0001c0003 | a0001c0003t0016a0001c0003t0017a0001c0003t0021 | a0001c0003t0016g0162 a0001c0003t0017g0119 a0001c0003t0021g0277 |
3 | 335 | 0.0090 | -88 | c.156 others(107): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 14/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1082432 | AGCCAGGA others(81): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0122 | 1 | 336 | 0.0030 | -88 | c.639 others(105): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118593 | GTTCTTCC others(81): Show |
G | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0294 | 1 | 335 | 0.0030 | -88 | c.246 others(105): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118909 | GTTCTTCC others(81): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0179 a0001c0001t0001g0227 a0001c0001t0003g0061 others(6): Show |
9 | 336 | 0.0268 | -88 | c.246 others(105): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1153431 | CGGGAGGG others(81): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 1 | 336 | 0.0030 | -88 | c.61+ others(105): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1153446 | TCCAGGCA others(81): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02976.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0005a0001c0001t0074a0001c0009t0018 | a0001c0001t0005g0284 a0001c0001t0074g0155 a0001c0009t0018g0101 |
3 | 328 | 0.0091 | -88 | c.61+ others(105): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109194522 | GTGTGTGT others(81): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0049 | a0001c0049t0004 | a0001c0049t0004g0089 | 1 | 306 | 0.0033 | -88 | c.248 others(105): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128917973 | ATTTAAGC others(81): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0077 | 1 | 370 | 0.0027 | -88 | c.*53 others(99): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 4860 | chr3 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288239 | CCGTGTCT others(81): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0096 | 1 | 293 | 0.0034 | -88 | c.*52 others(99): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4151 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289491 | CCGTGTCT others(81): Show |
C | downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 292 | 0.0034 | -88 | c.*39 others(99): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2899 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289509 | CCCCGTGT others(81): Show |
C | downstream_gene_variant | MODIFIER | HG02074.hp2 NA18999.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0029 a0001c0002t0001g0075 |
2 | 281 | 0.0071 | -88 | c.*39 others(99): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2881 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289966 | CCCCGTGT others(81): Show |
C | downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 279 | 0.0036 | -88 | c.*35 others(99): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2424 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289975 | TGCTCCGT others(81): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0023 | a0001c0023t0006 | a0001c0023t0006g0211 | 1 | 280 | 0.0036 | -88 | c.*35 others(99): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2415 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1297187 | AGTGGCAC others(81): Show |
A | intron_variant | MODIFIER | HG02965.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 |
2 | 179 | 0.0112 | -88 | c.112 others(105): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 14/23 | chr1 | TogoVar | |||||||
ACKR2_chr3_42804445_42872286 | 42819396 | AGCTCTTT others(81): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 167 | 0.0060 | -88 | c.-11 others(105): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8409583 | GTGCACTG others(81): Show |
G | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 378 | 0.0026 | -88 | c.687 others(103): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88937099 | AAGAAACA others(81): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02027.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0089 others(1): Show |
7 | 400 | 0.0175 | -88 | c.990 others(103): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 8/8 | chr10 | TogoVar |