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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT9_chr12_132191372_132334589 | 132241087 | CGGGGCCC others(38): Show |
C | intron_variant | MODIFIER | HG02027.hp2 NA18945.hp1 NA18961.hp2 others(2): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0001a0001c0009t0002 | a0001c0004t0001g0020 a0001c0009t0002g0168 a0001c0009t0002g0174 others(2): Show |
5 | 161 | 0.0311 | -45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477254 | CTTTCTTT others(38): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0015 a0001c0002t0003g0035 |
2 | 377 | 0.0053 | -45 | c.-13 others(56): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1260 | chr20 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880539 | TATATATA others(38): Show |
T | intron_variant | MODIFIER | NA18943.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0250 a0001c0001t0002g0257 |
2 | 276 | 0.0072 | -45 | c.344 others(64): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880586 | TATATATA others(38): Show |
T | intron_variant | MODIFIER | HG03490.hp1 NA18990.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0216 a0001c0001t0001g0240 |
3 | 344 | 0.0087 | -45 | c.344 others(64): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880678 | CATATATA others(38): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(44): Show |
52 | 334 | 0.1557 | -45 | c.344 others(64): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GIGYF1_chr7_100674507_100699250 | 100694312 | ACCGCCGC others(38): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02717.hp1 others(5): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0016a0001c0001t0046a0001c0003t0006others(4): Show | a0001c0001t0016g0104 a0001c0001t0046g0129 a0001c0003t0006g0009 others(4): Show |
8 | 12 | 0.6667 | -45 | c.-13 others(56): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 63 | chr7 | TogoVar | |||||||
GLRA3_chr4_174631920_174834247 | 174692187 | TCCACCCA others(38): Show |
T | intron_variant | MODIFIER | HG02630.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0043a0001c0002t0042 | a0001c0001t0043g0175 a0001c0002t0042g0044 |
2 | 294 | 0.0068 | -45 | c.575 others(62): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021911 | AGAAGAAG others(38): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG03139.hp2 NA18747.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0078 a0001c0003t0001g0001 a0001c0003t0001g0298 others(1): Show |
4 | 407 | 0.0098 | -45 | c.-16 others(62): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021926 | AGAAGAAG others(38): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0254 | 1 | 373 | 0.0027 | -45 | c.-16 others(62): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104022013 | AGAAGAAG others(38): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0113 |
2 | 408 | 0.0049 | -45 | c.-16 others(62): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLTPD2_chr17_4783964_4795589 | 4792025 | ATGTTGTA others(38): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 458 | 0.0022 | -45 | c.*17 others(56): Show |
GLTPD2 | ENSG00000182327.8 | transcript | ENST00000331264.8 | protein_coding | 1437 | chr17 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1999970 | TTATATAT others(38): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG06807.hp1 NA19043.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0095 a0001c0002t0001g0164 a0002c0003t0001g0001 |
3 | 72 | 0.0417 | -45 | c.346 others(64): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2785651 | TATACACA others(38): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02818.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0013a0001c0004t0017 | a0001c0004t0013g0285 a0001c0004t0013g0286 a0001c0004t0013g0287 others(2): Show |
5 | 320 | 0.0156 | -45 | c.525 others(62): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GON4L_chr1_155744659_155862214 | 155791880 | AACATAAC others(38): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01109.hp2 others(12): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(12): Show |
15 | 216 | 0.0694 | -45 | c.174 others(64): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 12/31 | chr1 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029332 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02155.hp1 HG02809.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0001a0005c0006t0004 | a0001c0001t0001g0091 a0002c0002t0001g0008 a0002c0002t0001g0323 others(1): Show |
4 | 426 | 0.0094 | -45 | c.326 others(62): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029336 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(6): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0002c0002t0002a0007c0009t0002 | a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0002g0131 others(5): Show |
9 | 416 | 0.0216 | -45 | c.326 others(62): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GPAT3_chr4_83531108_83610875 | 83562193 | ATATATAA others(38): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007 | a0001c0001t0005g0198 a0001c0001t0006g0002 a0001c0001t0006g0003 others(4): Show |
7 | 332 | 0.0211 | -45 | c.208 others(64): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
GPAT3_chr4_83531108_83610875 | 83562195 | ATATAATA others(38): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0212 | 1 | 331 | 0.0030 | -45 | c.208 others(64): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92006943 | TGTTATGA others(38): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 42 | 0.0238 | -45 | c.140 others(66): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92031701 | ATTATATA others(38): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 41 | 0.0244 | -45 | c.140 others(68): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
GPC6_chr13_93221807_94413020 | 93676113 | AAAAAAAA others(38): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0005 | 1 | 74 | 0.0135 | -45 | c.319 others(66): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93676115 | AAAAAAAA others(38): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01433.hp2 HG02055.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0022 others(5): Show |
8 | 72 | 0.1111 | -45 | c.319 others(66): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPD1L_chr3_32101620_32173709 | 32169882 | TGGGGGTC others(38): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp1 HG03195.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0028 | a0001c0001t0001g0057 a0001c0001t0011g0058 a0001c0001t0011g0275 others(2): Show |
5 | 358 | 0.0140 | -45 | c.*39 others(56): Show |
GPD1L | ENSG00000152642.11 | transcript | ENST00000282541.10 | protein_coding | 1174 | chr3 | TogoVar | |||||||
GPR15LG_chr10_84168801_84190294 | 84186258 | CAAAGCTG others(38): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 456 | 0.0022 | -45 | c.*14 others(56): Show |
GPR15LG | ENSG00000188373.5 | transcript | ENST00000372126.4 | protein_coding | 965 | chr10 | TogoVar | |||||||
GPR39_chr2_132411805_132651582 | 132493335 | TACCATAT others(38): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 208 | 0.0048 | -45 | c.856 others(64): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRID1_chr10_85594552_86371795 | 85819014 | TCCTGCAC others(38): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0060 | 1 | 96 | 0.0104 | -45 | c.123 others(66): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 8/15 | chr10 | TogoVar | |||||||
GRIK1_chr21_29531933_29944996 | 29734345 | ACTTTTCT others(38): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0139 |
2 | 113 | 0.0177 | -45 | c.119 others(64): Show |
GRIK1 | ENSG00000171189.18 | transcript | ENST00000327783.9 | protein_coding | 1/17 | chr21 | TogoVar | |||||||
GRM1_chr6_146024062_146442601 | 146267640 | GCGCTGGG others(38): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0103 | 1 | 156 | 0.0064 | -45 | c.951 others(64): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113352995 | GCCCACAG others(38): Show |
G | intron_variant | MODIFIER | HG01952.hp2 HG02280.hp2 HG02451.hp2 others(3): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0002a0001c0001t0003a0009c0012t0003 | a0001c0001t0002g0006 a0001c0001t0002g0068 a0001c0001t0003g0266 others(3): Show |
6 | 158 | 0.0380 | -45 | c.341 others(62): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
GSDME_chr7_24693355_24762464 | 24762115 | GTGATGGT others(38): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0035 | 1 | 408 | 0.0025 | -45 | c.-47 others(56): Show |
GSDME | ENSG00000105928.16 | transcript | ENST00000645220.1 | protein_coding | 4652 | chr7 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696960 | GTGTATAT others(38): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp2 NA19030.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0209 a0001c0007t0001g0216 |
2 | 229 | 0.0087 | -45 | c.-55 others(54): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 362 | chr12 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696995 | GTATATAT others(38): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028 | 1 | 158 | 0.0063 | -45 | c.-59 others(54): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 397 | chr12 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123530115 | GATTAATG others(38): Show |
G | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0086 | 1 | 348 | 0.0029 | -45 | c.293 others(62): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
HCAR2_chr12_122696293_122708357 | 122708077 | CCAGCCAT others(38): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 426 | 0.0023 | -45 | c.-48 others(56): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 4721 | chr12 | TogoVar | |||||||
HCLS1_chr3_121626399_121665903 | 121644181 | TGAGTTCA others(38): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0220 | 1 | 388 | 0.0026 | -45 | c.399 others(60): Show |
HCLS1 | ENSG00000180353.11 | transcript | ENST00000314583.8 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
HEXIM1_chr17_45143475_45157099 | 45154288 | GTGGGTGG others(38): Show |
G | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 440 | 0.0023 | -45 | c.*40 others(56): Show |
HEXIM1 | ENSG00000186834.4 | transcript | ENST00000332499.4 | protein_coding | 2190 | chr17 | TogoVar | |||||||
HINT3_chr6_125951770_125985244 | 125962271 | CATACATA others(38): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 265 | 0.0038 | -45 | c.202 others(62): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIPK2_chr7_139556570_139782998 | 139579640 | AAGGAAAA others(38): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0133 | 1 | 152 | 0.0066 | -45 | c.296 others(64): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 13/14 | chr7 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130277952 | TCACCACC others(38): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0072 | a0072c0210 | a0072c0210t0002 | a0072c0210t0002g0252 | 1 | 254 | 0.0039 | -45 | c.260 others(62): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HNF1B_chr17_37681431_37750059 | 37745915 | GAGGATGG others(38): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG00741.hp1 others(42): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0212 others(42): Show |
45 | 408 | 0.1103 | -45 | c.-10 others(56): Show |
HNF1B | ENSG00000275410.6 | transcript | ENST00000617811.5 | protein_coding | 857 | chr17 | TogoVar | |||||||
HNRNPCL2_chr1_13110488_13121854 | 13121038 | GAAAGGAA others(38): Show |
G | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 424 | 0.0024 | -45 | c.-44 others(56): Show |
HNRNPCL2 | ENSG00000275774.3 | transcript | ENST00000621994.3 | protein_coding | 4185 | chr1 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23279762 | ATGAGCCA others(38): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0104 | 1 | 392 | 0.0026 | -45 | c.41- others(60): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HPGDS_chr4_94293535_94347836 | 94340285 | CTTTCTTT others(38): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 306 | 0.0033 | -45 | c.-10 others(62): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132192 | AGAGAGAG others(38): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 | 1 | 142 | 0.0070 | -45 | c.610 others(64): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 26134004 | GACTGTAT others(38): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0098 | 1 | 164 | 0.0061 | -45 | c.735 others(62): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144313660 | GCCGCGCC others(38): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 270 | 0.0037 | -45 | c.124 others(60): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(38): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG02109.hp2 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(9): Show | a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0008g0040 others(14): Show |
17 | 37 | 0.4595 | -45 | c.684 others(64): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IL17REL_chr22_49986811_50017765 | 49998601 | TTGCATGG others(38): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 NA18955.hp1 others(1): Show |
a0003a0004 | a0003c0004a0004c0009 | a0003c0004t0015a0004c0009t0015 | a0003c0004t0015g0066 a0003c0004t0015g0069 a0003c0004t0015g0072 others(1): Show |
4 | 438 | 0.0091 | -45 | c.818 others(60): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
IL1RAPL1_chrX_28582446_29961718 | 29335260 | ACGGAGAC others(38): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(53): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0059 a0001c0001t0001g0062 others(53): Show |
56 | 131 | 0.4275 | -45 | c.362 others(64): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | chrX | TogoVar | |||||||
IL1RAPL2_chrX_104561199_105772829 | 104761887 | CCTTCTCC others(38): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 137 | 0.0073 | -45 | c.82+ others(64): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar |