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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNAT3_chr7_80453635_80517064 | 80497622 | GTATATAC others(47): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001 | a0001c0002t0002g0293 a0002c0003t0001g0292 a0002c0003t0001g0294 |
3 | 334 | 0.0090 | -54 | c.119 others(71): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2651282 | CTCCATCC others(47): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0024a0001c0001t0045others(4): Show | a0001c0001t0018g0158 a0001c0001t0024g0056 a0001c0001t0045g0004 others(4): Show |
7 | 206 | 0.0340 | -54 | c.-13 others(73): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GOLGA6L1_chr15_23122066_23141822 | 23136585 | AGGATGGG others(47): Show |
A | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG01884.hp1 HG01952.hp2 others(7): Show |
a0010a0017a0021others(2): Show | a0010c0012a0010c0053a0017c0020others(3): Show | a0010c0012t0001a0010c0053t0001a0017c0020t0008others(3): Show | a0010c0012t0001g0022 a0010c0012t0001g0094 a0010c0053t0001g0091 others(5): Show |
10 | 204 | 0.0490 | -54 | c.93_ others(60): Show |
p.His others(11): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 237/3822 | 93/2007 | 31/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136660 | ATGGGTAG others(47): Show |
A | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(73): Show |
a0001a0012a0029others(1): Show | a0001c0001a0001c0005a0012c0023others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(33): Show |
76 | 204 | 0.3726 | -54 | c.18_ others(59): Show |
p.Gln others(10): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 162/3822 | 18/2007 | 6/668 | chr15 | TogoVar | |||
GOLGA6L22_chr15_22453903_22474226 | 22459011 | ACCCCACC others(47): Show |
A | disruptive_inframe_deletion | MODERATE | HG01361.hp2 NA19007.hp1 NA19088.hp1 |
a0020a0025 | a0020c0023a0025c0063 | a0020c0023t0003a0025c0063t0002 | a0020c0023t0003g0002 a0020c0023t0003g0038 a0025c0063t0002g0001 |
3 | 226 | 0.0133 | -54 | c.75_ others(60): Show |
p.His others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 166/4401 | 75/2565 | 25/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28842807 | CCTGCTTC others(47): Show |
C | conservative_inframe_deletion | MODERATE | HG01981.hp1 HG02027.hp2 HG02055.hp1 others(23): Show |
a0004a0025a0027 | a0004c0004a0004c0005a0004c0036others(2): Show | a0004c0004t0002a0004c0004t0006a0004c0005t0002others(3): Show | a0004c0004t0002g0005 a0004c0004t0002g0074 a0004c0004t0006g0087 others(6): Show |
26 | 422 | 0.0616 | -54 | c.124 others(63): Show |
p.Met others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1391/2367 | 1243/1869 | 415/622 | chr15 | TogoVar | |||
GP6_chr19_55008705_55043264 | 55026964 | TGGCCCCG others(47): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01255.hp1 HG02257.hp1 others(6): Show |
a0003a0004a0006others(2): Show | a0003c0003a0004c0008a0006c0007others(2): Show | a0003c0003t0003a0004c0008t0003a0006c0007t0002others(3): Show | a0003c0003t0003g0039 a0004c0008t0003g0014 a0006c0007t0002g0306 others(6): Show |
9 | 441 | 0.0204 | -54 | c.610 others(69): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55027277 | CTTCCCAC others(47): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01496.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0001 | a0002c0002t0002g0123 a0002c0004t0001g0102 a0002c0004t0001g0103 |
3 | 441 | 0.0068 | -54 | c.610 others(69): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55027301 | GCAGCCCA others(47): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG03579.hp1 |
a0018a0019a0022 | a0018c0036a0019c0037a0022c0039 | a0018c0036t0002a0019c0037t0001a0022c0039t0010 | a0018c0036t0002g0269 a0019c0037t0001g0375 a0022c0039t0010g0084 |
3 | 441 | 0.0068 | -54 | c.610 others(69): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55027355 | ACAGCCCA others(47): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01981.hp1 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0297 a0013c0017t0001g0360 |
2 | 441 | 0.0045 | -54 | c.610 others(69): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
GPC1_chr2_240430663_240473076 | 240442185 | TTGACTTC others(47): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0004t0027a0001c0005t0005a0001c0006t0008others(1): Show | a0001c0004t0027g0263 a0001c0005t0005g0288 a0001c0006t0008g0289 others(1): Show |
4 | 398 | 0.0101 | -54 | c.166 others(71): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPC1_chr2_240430663_240473076 | 240453332 | ACCGCCCG others(47): Show |
A | intron_variant | MODIFIER | HG02273.hp1 HG03688.hp2 NA18960.hp2 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0019 | a0002c0001t0001g0043 a0002c0001t0001g0155 a0002c0001t0001g0196 others(2): Show |
5 | 398 | 0.0126 | -54 | c.167 others(71): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPC1_chr2_240430663_240473076 | 240453350 | ACCGCCCG others(47): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp1 others(28): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0002a0001c0004t0004a0001c0005t0001others(3): Show | a0001c0002t0002g0046 a0001c0004t0004g0009 a0001c0005t0001g0014 others(26): Show |
31 | 398 | 0.0779 | -54 | c.167 others(71): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR157_chr1_9095305_9134102 | 9123262 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0198 | 1 | 404 | 0.0025 | -54 | c.383 others(71): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GPR39_chr2_132411805_132651582 | 132492673 | TATAATAT others(47): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0033 | 1 | 208 | 0.0048 | -54 | c.856 others(73): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
GPR87_chr3_151289086_151321820 | 151293584 | CACACACA others(47): Show |
C | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01975.hp1 HG02735.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0006 a0001c0002t0001g0025 a0001c0002t0001g0053 others(4): Show |
7 | 446 | 0.0157 | -54 | c.*53 others(63): Show |
GPR87 | ENSG00000138271.6 | transcript | ENST00000260843.5 | protein_coding | 501 | chr3 | TogoVar | |||||||
GRHL1_chr2_9946693_10007277 | 9998747 | CATATATA others(47): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0038 | 1 | 418 | 0.0024 | -54 | c.167 others(71): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRID1_chr10_85594552_86371795 | 85930156 | ATAACTAC others(47): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0003 | a0001c0002t0003g0073 a0001c0004t0003g0091 |
2 | 96 | 0.0208 | -54 | c.727 others(73): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 4/15 | chr10 | TogoVar | |||||||
GRID1_chr10_85594552_86371795 | 85930237 | TTAACTAC others(47): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0005a0001c0002t0004a0001c0002t0035others(2): Show | a0001c0001t0005g0015 a0001c0002t0004g0084 a0001c0002t0035g0095 others(2): Show |
5 | 96 | 0.0521 | -54 | c.727 others(73): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 4/15 | chr10 | TogoVar | |||||||
GRIFIN_chr7_2469728_2481398 | 2476456 | GGGGGCTG others(47): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | -54 | c.-12 others(62): Show |
GRIFIN | ENSG00000275572.2 | transcript | ENST00000614228.2 | protein_coding | 59 | chr7 | TogoVar | |||||||
GRIK2_chr6_101388708_102075083 | 101738151 | TAAATGTC others(47): Show |
T | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0103 | 1 | 116 | 0.0086 | -54 | c.951 others(73): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119218946 | AGAGTGCA others(47): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG03471.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0026a0005c0007t0012 | a0001c0001t0026g0114 a0005c0007t0012g0115 |
2 | 202 | 0.0099 | -54 | c.52+ others(71): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119394541 | GTGTGGGG others(47): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0165 | 1 | 202 | 0.0050 | -54 | c.262 others(71): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRK6_chr5_177421676_177447891 | 177446158 | AACTTCAG others(47): Show |
A | downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 382 | 0.0026 | -54 | c.*43 others(65): Show |
GRK6 | ENSG00000198055.11 | transcript | ENST00000355472.10 | protein_coding | 3268 | chr5 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 89036639 | GGCAAGAC others(47): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0033 others(117): Show |
120 | 184 | 0.6522 | -54 | c.661 others(73): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
GRM7_chr3_6856115_7746533 | 7099219 | TAATACAT others(47): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02258.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0003g0006 a0001c0003t0001g0037 a0001c0003t0002g0044 others(3): Show |
6 | 80 | 0.0750 | -54 | c.520 others(73): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654170 | GAAAGAAA others(47): Show |
G | upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 364 | 0.0028 | -54 | c.-22 others(65): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1928 | chr1 | TogoVar | |||||||
GSTM4_chr1_109651099_109666700 | 109654174 | GAAAGAAA others(47): Show |
G | upstream_gene_variant | MODIFIER | HG01361.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0036 |
2 | 364 | 0.0055 | -54 | c.-22 others(65): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1924 | chr1 | TogoVar | |||||||
GUCA2A_chr1_42157690_42169745 | 42160706 | AACTCTTA others(47): Show |
A | downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 436 | 0.0023 | -54 | c.*21 others(65): Show |
GUCA2A | ENSG00000197273.4 | transcript | ENST00000357001.3 | protein_coding | 1983 | chr1 | TogoVar | |||||||
GYG2_chrX_2823930_2887818 | 2844504 | ATATATGT others(47): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02622.hp1 |
a0002 | a0002c0006 | a0002c0006t0002a0002c0006t0003a0002c0006t0005 | a0002c0006t0002g0121 a0002c0006t0003g0120 a0002c0006t0005g0119 |
3 | 316 | 0.0095 | -54 | c.149 others(71): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2874663 | CCATAAAC others(47): Show |
C | intron_variant | MODIFIER | NA18987.hp1 | a0013 | a0013c0014 | a0013c0014t0018 | a0013c0014t0018g0147 | 1 | 316 | 0.0032 | -54 | c.103 others(73): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 8/10 | chrX | TogoVar | |||||||
GYPE_chr4_143865864_143910559 | 143883960 | CTGAGTCA others(47): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 398 | 0.0025 | -54 | c.38- others(69): Show |
GYPE | ENSG00000197465.14 | transcript | ENST00000358615.9 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123492301 | CCTTTGAC others(47): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0118 | 1 | 350 | 0.0029 | -54 | c.*25 others(65): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 7/7 | 2533 | chr3 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123526041 | GAGCAAGC others(47): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03017.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0001 | a0001c0001t0013g0114 a0001c0001t0013g0115 a0001c0003t0001g0324 |
3 | 350 | 0.0086 | -54 | c.381 others(71): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
HAMP_chr19_35277528_35290143 | 35283164 | CTACGCCG others(47): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 448 | 0.0022 | -54 | c.90+ others(67): Show |
HAMP | ENSG00000105697.9 | transcript | ENST00000222304.5 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 613578 | CGGGGATG others(47): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG03486.hp2 |
a0001 | a0001c0023a0001c0112 | a0001c0023t0002a0001c0112t0003 | a0001c0023t0002g0014 a0001c0112t0003g0159 |
2 | 408 | 0.0049 | -54 | c.182 others(70): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDAC5_chr17_44071753_44128641 | 44122584 | GCCAGGGG others(47): Show |
G | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 296 | 0.0034 | -54 | c.-19 others(71): Show |
HDAC5 | ENSG00000108840.16 | transcript | ENST00000682912.1 | protein_coding | 1/26 | chr17 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196598242 | GGAAGGGG others(47): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0045 | 1 | 112 | 0.0089 | -54 | c.-48 others(65): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 4689 | chr2 | TogoVar | |||||||
HENMT1_chr1_108643295_108666093 | 108652555 | CTTGCTGC others(47): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0186 | 1 | 442 | 0.0023 | -54 | c.399 others(71): Show |
HENMT1 | ENSG00000162639.16 | transcript | ENST00000651461.1 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
HGFAC_chr4_3436968_3454486 | 3440709 | ACATTCAC others(47): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 454 | 0.0022 | -54 | c.-12 others(65): Show |
HGFAC | ENSG00000109758.9 | transcript | ENST00000382774.8 | protein_coding | 1258 | chr4 | TogoVar | |||||||
HIC2_chr22_21412371_21456463 | 21428325 | ACCTACCT others(47): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 288 | 0.0035 | -54 | c.-74 others(73): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HIF1A_chr14_61690513_61753258 | 61747865 | ATGTAGTT others(47): Show |
A | 3_prime_UTR_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0089 | 1 | 322 | 0.0031 | -54 | c.*78 others(63): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 15/15 | 782 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HINT3_chr6_125951770_125985244 | 125962221 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(74): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0016a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0026 others(65): Show |
77 | 268 | 0.2873 | -54 | c.202 others(71): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41545644 | TCACCACC others(47): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 |
a0001 | a0001c0011a0001c0047 | a0001c0011t0021a0001c0047t0024 | a0001c0011t0021g0040 a0001c0047t0024g0042 |
2 | 134 | 0.0149 | -54 | c.520 others(75): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41824762 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0031 | a0031c0039 | a0031c0039t0048 | a0031c0039t0048g0119 | 1 | 134 | 0.0075 | -54 | c.-80 others(75): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HLTF_chr3_149025127_149091533 | 149079463 | CTATCTCA others(47): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0017a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(125): Show |
144 | 404 | 0.3564 | -54 | c.229 others(71): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 2/24 | chr3 | TogoVar | |||||||
HMGN2_chr1_26467440_26481642 | 26470450 | CATTTTAC others(47): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -54 | c.-21 others(65): Show |
HMGN2 | ENSG00000198830.12 | transcript | ENST00000361427.6 | protein_coding | 1989 | chr1 | TogoVar | |||||||
HNF1A_chr12_120973543_121007512 | 120990616 | ATAGGAAA others(47): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03453.hp2 HG03486.hp2 |
a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0061 a0004c0013t0001g0062 a0004c0013t0001g0063 |
3 | 410 | 0.0073 | -54 | c.526 others(71): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HPS4_chr22_26445882_26488783 | 26482528 | AACCCAAA others(47): Show |
A | intron_variant | MODIFIER | NA18965.hp1 | a0003 | a0003c0003 | a0003c0003t0029 | a0003c0003t0029g0059 | 1 | 404 | 0.0025 | -54 | c.-47 others(71): Show |
HPS4 | ENSG00000100099.22 | transcript | ENST00000398145.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132187 | AAGAAAGA others(47): Show |
A | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 142 | 0.0070 | -54 | c.610 others(73): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar |