| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GALNT9_chr12_132191372_132334589 | 132232668 | AGAGGAGA others(44): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 183 | 0.0055 | -51 | c.107 others(72): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALR1_chr18_77244848_77282900 | 77252938 | CCACCACC others(44): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0188 | 1 | 366 | 0.0027 | -51 | c.666 others(68): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GALR1_chr18_77244848_77282900 | 77259133 | GTGGTGGT others(44): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0160 | 1 | 366 | 0.0027 | -51 | c.732 others(68): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GBGT1_chr9_133147948_133168914 | 133166736 | TTTCATCT others(44): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02280.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0055a0001c0003t0001g0011others(6): Show | 10 | 446 | 0.0224 | -51 | c.-31 others(62): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 2823 | chr9 | TogoVar | ||||||
| GCNT3_chr15_59606783_59627723 | 59611067 | CCCTCCCC others(44): Show |
C | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02109.hp1 HG02738.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0041a0001c0001t0002g0041others(9): Show | 13 | 428 | 0.0304 | -51 | c.-11 others(62): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 715 | chr15 | TogoVar | ||||||
| GFRA1_chr10_116051925_116278206 | 116196656 | ATAGTACT others(44): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02145.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(16): Show | a0001c0001t0001g0041a0001c0001t0011g0152a0001c0001t0014g0147others(16): Show | 19 | 214 | 0.0888 | -51 | c.433 others(70): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
| GGT5_chr22_24214660_24250082 | 24238907 | TATATATA others(44): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0221 | 1 | 420 | 0.0024 | -51 | c.174 others(68): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
| GHR_chr5_42418439_42726878 | 42579108 | TAGATAGA others(44): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01891.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(4): Show | a0001c0001t0002g0035a0001c0001t0002g0055a0001c0001t0002g0056others(10): Show | 13 | 210 | 0.0619 | -51 | c.70+ others(68): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42579112 | TAGATAGA others(44): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG02055.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0013a0003c0006t0010 | a0001c0001t0013g0039a0001c0001t0013g0040a0001c0001t0013g0066others(1): Show | 4 | 210 | 0.0191 | -51 | c.70+ others(68): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42579116 | TAGATAGA others(44): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0058 | 1 | 210 | 0.0048 | -51 | c.70+ others(68): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GIGYF1_chr7_100674507_100699250 | 100694312 | ACCGCCGC others(44): Show |
A | upstream_gene_variant | MODIFIER | HG02523.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0159 | 2 | 398 | 0.0050 | -51 | c.-13 others(62): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 63 | chr7 | TogoVar | ||||||
| GLT8D2_chr12_103983987_104055187 | 104021905 | AGAAGAAG others(44): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0300 | 1 | 416 | 0.0024 | -51 | c.-16 others(68): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| GLT8D2_chr12_103983987_104055187 | 104021920 | AGAAGAAG others(44): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0233 | 1 | 416 | 0.0024 | -51 | c.-16 others(68): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| GLT8D2_chr12_103983987_104055187 | 104021956 | GGAAGAAG others(44): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 416 | 0.0024 | -51 | c.-16 others(68): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| GNA14_chr9_77418079_77653322 | 77641080 | GGGAGGGG others(44): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0154a0001c0001t0009g0155 | 2 | 240 | 0.0083 | -51 | c.124 others(68): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| GNAT3_chr7_80453635_80517064 | 80493604 | CCTCCTCC others(44): Show |
C | intron_variant | MODIFIER | HG02559.hp1 NA19240.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0042a0004c0007t0001g0302 | 2 | 334 | 0.0060 | -51 | c.161 others(67): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
| GNAT3_chr7_80453635_80517064 | 80493605 | CTCCTCCT others(44): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02559.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(10): Show | 17 | 334 | 0.0509 | -51 | c.161 others(66): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
| GNAT3_chr7_80453635_80517064 | 80493701 | TCTTTGTT others(44): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0151 | 1 | 334 | 0.0030 | -51 | c.161 others(66): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
| GOLGA3_chr12_132763914_132833869 | 132770284 | AAGGAAGT others(44): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02132.hp2 HG02717.hp1 |
a0001a0014 | a0001c0018a0014c0020 | a0001c0018t0019a0014c0020t0019 | a0001c0018t0019g0132a0014c0020t0019g0003 | 2 | 308 | 0.0065 | -51 | c.*27 others(62): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 24/24 | 2770 | chr12 | TogoVar | |||||
| GOLGA8A_chr15_34374068_34442808 | 34437425 | CCGCCGCC others(44): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02886.hp1 others(7): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0022a0003c0003t0022a0004c0004t0040others(4): Show | a0001c0001t0022g0145a0001c0001t0022g0146a0003c0003t0022g0143others(7): Show | 10 | 245 | 0.0408 | -51 | c.-12 others(62): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 1/25 | 47735 | chr15 | TogoVar | |||||
| GOLM2_chr15_44283719_44420758 | 44288477 | AGAGAAAG others(44): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 150 | 0.0067 | -51 | c.-55 others(60): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 241 | chr15 | TogoVar | ||||||
| GOLM2_chr15_44283719_44420758 | 44288506 | GAGAGCGA others(44): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0149 | 1 | 150 | 0.0067 | -51 | c.-52 others(60): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 212 | chr15 | TogoVar | ||||||
| GP6_chr19_55008705_55043264 | 55029332 | ATATATAT others(44): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0315 | 1 | 441 | 0.0023 | -51 | c.326 others(68): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
| GPAT4_chr8_41573200_41630001 | 41626350 | CACCTCCC others(44): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 410 | 0.0024 | -51 | c.*53 others(62): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 1350 | chr8 | TogoVar | ||||||
| GPC1_chr2_240430663_240473076 | 240453321 | GCCCCGCT others(44): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG01884.hp1 HG02280.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0005a0001c0006others(4): Show | a0001c0003t0003a0001c0005t0005a0001c0006t0008others(4): Show | a0001c0003t0003g0075a0001c0005t0005g0295a0001c0006t0008g0089others(8): Show | 11 | 398 | 0.0276 | -51 | c.167 others(68): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GPR35_chr2_240620480_240638159 | 240623327 | GGCGCAAA others(44): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0152 | 1 | 400 | 0.0025 | -51 | c.-22 others(62): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2152 | chr2 | TogoVar | ||||||
| GPSM2_chr1_108871985_108939545 | 108873398 | ATATATAT others(44): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0003 | 1 | 260 | 0.0039 | -51 | c.-40 others(62): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3586 | chr1 | TogoVar | ||||||
| GREM2_chr1_240484573_240617155 | 240536567 | GGAGTTTA others(44): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG01884.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0050a0001c0001t0001g0098a0001c0001t0001g0128others(10): Show | 13 | 376 | 0.0346 | -51 | c.-1- others(68): Show |
GREM2 | ENSG00000180875.5 | transcript | ENST00000318160.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| GREM2_chr1_240484573_240617155 | 240536691 | CGGGGGCT others(44): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01081.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0040a0001c0001t0002g0225a0001c0001t0002g0324others(8): Show | 11 | 376 | 0.0293 | -51 | c.-1- others(68): Show |
GREM2 | ENSG00000180875.5 | transcript | ENST00000318160.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| GRID2_chr4_92298966_93779566 | 92578041 | TTTCTTCT others(44): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01496.hp1 HG01978.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0023others(4): Show | 7 | 34 | 0.2059 | -51 | c.89- others(68): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GRIK5_chr19_41993324_42075206 | 42048844 | GGCTGGGC others(44): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 172 | 0.0058 | -51 | c.126 others(70): Show |
GRIK5 | ENSG00000105737.10 | transcript | ENST00000593562.6 | protein_coding | 11/19 | chr19 | TogoVar | ||||||
| GRIN2A_chr16_9748408_10187428 | 10165685 | GGGAGGGG others(44): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0080 | 1 | 168 | 0.0060 | -51 | c.414 others(70): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
| GRK5_chr10_119202571_119464745 | 119287302 | AAGGAAGG others(44): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0018others(143): Show | 146 | 202 | 0.7228 | -51 | c.53- others(68): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| GSG1L_chr16_27782528_28068714 | 27888431 | TCTTTCTT others(44): Show |
T | intron_variant | MODIFIER | HG01978.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0112a0001c0001t0004g0166 | 2 | 240 | 0.0083 | -51 | c.398 others(68): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
| GSN_chr9_121263162_121337842 | 121322205 | TTCCAGTA others(44): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 322 | 0.0031 | -51 | c.132 others(68): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 11/17 | chr9 | TogoVar | ||||||
| GTDC1_chr2_143933068_144337512 | 144133443 | ATATATAA others(44): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 124 | 0.0081 | -51 | c.521 others(68): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 306875 | AGTCAGAA others(44): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(87): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0003a0002c0002others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0045a0001c0001t0002g0003others(82): Show | 90 | 155 | 0.5807 | -51 | c.142 others(68): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 9/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 315823 | CACACACA others(44): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0028 | 1 | 155 | 0.0065 | -51 | c.488 others(66): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GUCY2C_chr12_14607632_14701599 | 14696960 | GTGTATAT others(44): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02486.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0131a0001c0005t0002g0132a0001c0005t0002g0133 | 3 | 236 | 0.0127 | -51 | c.-56 others(60): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 362 | chr12 | TogoVar | ||||||
| GYG1_chr3_148986540_149036775 | 149014482 | GAAGAAGA others(44): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0002t0001 | a0001c0001t0003g0114a0001c0001t0003g0140a0001c0001t0009g0113others(1): Show | 4 | 414 | 0.0097 | -51 | c.608 others(68): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| HBQ1_chr16_175459_186179 | 186128 | GACACGGG others(44): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | -51 | c.*50 others(62): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4950 | chr16 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112323975 | TTCCTTCC others(44): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 | 1 | 270 | 0.0037 | -51 | c.178 others(68): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571772 | GCTCCAAG others(44): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0065 | a0065c0064 | a0065c0064t0101 | a0065c0064t0101g0258 | 1 | 390 | 0.0026 | -51 | c.278 others(66): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HERPUD2_chr7_35627659_35700135 | 35631864 | TATATATA others(44): Show |
T | downstream_gene_variant | MODIFIER | HG01975.hp1 HG03491.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012 | a0002c0002t0002g0353a0002c0002t0012g0302 | 2 | 392 | 0.0051 | -51 | c.*17 others(62): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 794 | chr7 | TogoVar | ||||||
| HERPUD2_chr7_35627659_35700135 | 35632266 | CATATATA others(44): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00738.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0257a0001c0001t0002g0283a0001c0001t0004g0229others(61): Show | 64 | 392 | 0.1633 | -51 | c.*13 others(62): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 392 | chr7 | TogoVar | ||||||
| HHIPL1_chr14_99640129_99685569 | 99656841 | AAGGAAGG others(44): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02602.hp2 HG02818.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0001c0003t0030a0002c0004t0005 | a0001c0003t0003g0134a0001c0003t0030g0089a0002c0004t0005g0109 | 3 | 374 | 0.0080 | -51 | c.903 others(66): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HIVEP1_chr6_12007312_12169999 | 12168064 | CATATATA others(44): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00735.hp1 others(82): Show |
a0001a0003a0022 | a0001c0001a0001c0013a0001c0048others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0022others(82): Show | 85 | 344 | 0.2471 | -51 | c.*36 others(62): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3066 | chr6 | TogoVar | ||||||
| HLA-DPA1_chr6_33059569_33078649 | 33061084 | AAATAAAT others(44): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 5 | 105 | 0.0476 | -51 | c.*42 others(62): Show |
HLA-DPA1 | ENSG00000231389.8 | transcript | ENST00000692443.1 | protein_coding | 3484 | chr6 | TogoVar | ||||||
| HMGCL_chr1_23796885_23830429 | 23828925 | CCTGGGCT others(44): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 372 | 0.0027 | -51 | c.-35 others(62): Show |
HMGCL | ENSG00000117305.15 | transcript | ENST00000374490.8 | protein_coding | 3497 | chr1 | TogoVar | ||||||
| HRH3_chr20_62209960_62225278 | 62212754 | CCCCAGTC others(44): Show |
C | downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | -51 | c.*32 others(62): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 2205 | chr20 | TogoVar |