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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HOPX_chr4_56642998_56686296 | 56651908 | GTGTGTGT | G | intron_variant | MODIFIER | HG02165.hp2 NA18964.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0282 |
3 | 376 | 0.0080 | -7 | c.199 others(24): Show |
HOPX | ENSG00000171476.23 | transcript | ENST00000420433.6 | protein_coding | 3/3 | chr4 | TogoVar | |||||||
HOPX_chr4_56642998_56686296 | 56656484 | GCCGGCCT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(137): Show |
176 | 376 | 0.4681 | -7 | c.43- others(20): Show |
HOPX | ENSG00000171476.23 | transcript | ENST00000420433.6 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
HORMAD2_chr22_30075464_30182075 | 30127199 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00639.hp1 others(41): Show |
a0001a0003a0007 | a0001c0001a0003c0006a0007c0007 | a0001c0001t0001a0001c0001t0002a0003c0006t0001others(1): Show | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(41): Show |
44 | 350 | 0.1257 | -7 | c.819 others(24): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HORMAD2_chr22_30075464_30182075 | 30178134 | GAGTAATT | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00639.hp1 others(45): Show |
a0001a0003a0007 | a0001c0001a0003c0006a0007c0007 | a0001c0001t0001a0003c0006t0001a0007c0007t0001 | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(45): Show |
48 | 350 | 0.1371 | -7 | c.*19 others(18): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 1060 | chr22 | TogoVar | |||||||
HOXA3_chr7_27102010_27157583 | 27123866 | ACGCTGCG | A | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02922.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0014 | a0001c0001t0019g0014 a0001c0001t0019g0214 a0002c0002t0014g0215 others(3): Show |
7 | 326 | 0.0215 | -7 | c.-20 others(26): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
HOXA4_chr7_27123525_27135757 | 27123866 | ACGCTGCG | A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0005 a0001c0005t0002g0007 |
8 | 406 | 0.0197 | -7 | c.*53 others(18): Show |
HOXA4 | ENSG00000197576.15 | transcript | ENST00000360046.10 | protein_coding | 4658 | chr7 | TogoVar | |||||||
HOXB2_chr17_48537655_48550109 | 48538808 | TAAAAAAA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0002g0002 a0001c0001t0006g0008 a0001c0001t0010g0027 others(1): Show |
13 | 426 | 0.0305 | -7 | c.*42 others(18): Show |
HOXB2 | ENSG00000173917.11 | transcript | ENST00000330070.6 | protein_coding | 3846 | chr17 | TogoVar | |||||||
HOXB2_chr17_48537655_48550109 | 48546065 | TAAAAAAG | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(34): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0014g0026 others(1): Show |
37 | 426 | 0.0869 | -7 | c.-11 others(18): Show |
HOXB2 | ENSG00000173917.11 | transcript | ENST00000330070.6 | protein_coding | 957 | chr17 | TogoVar | |||||||
HOXB3_chr17_48543870_48595241 | 48546065 | TAAAAAAG | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(31): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0021 | a0001c0001t0005a0002c0002t0001a0002c0002t0003others(7): Show | a0001c0001t0005g0263 a0002c0002t0001g0110 a0002c0002t0001g0128 others(31): Show |
34 | 374 | 0.0909 | -7 | c.*42 others(18): Show |
HOXB3 | ENSG00000120093.12 | transcript | ENST00000498678.6 | protein_coding | 2804 | chr17 | TogoVar | |||||||
HOXC12_chr12_53949903_53963956 | 53954776 | GGGATGGT | G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02486.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0004g0008 others(3): Show |
20 | 424 | 0.0472 | -7 | c.-15 others(16): Show |
HOXC12 | ENSG00000123407.4 | transcript | ENST00000243103.4 | protein_coding | 126 | chr12 | TogoVar | |||||||
HOXC13_chr12_53933831_53951544 | 53942154 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0005g0026 others(1): Show |
6 | 402 | 0.0149 | -7 | c.736 others(24): Show |
HOXC13 | ENSG00000123364.5 | transcript | ENST00000243056.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HOXD3_chr2_176152307_176178098 | 176167686 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01106.hp2 others(42): Show |
a0001a0004 | a0001c0003a0001c0004a0004c0011 | a0001c0003t0003a0001c0003t0005a0001c0004t0001others(1): Show | a0001c0003t0003g0004 a0001c0003t0003g0008 a0001c0003t0003g0031 others(15): Show |
45 | 332 | 0.1355 | -7 | c.-84 others(24): Show |
HOXD3 | ENSG00000128652.12 | transcript | ENST00000683222.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10299674 | CAACAACA | C | upstream_gene_variant | MODIFIER | HG02965.hp1 HG02970.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0297 a0001c0001t0005g0295 a0001c0001t0006g0296 |
3 | 314 | 0.0096 | -7 | c.-36 others(18): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 3229 | chr2 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10349702 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01070.hp1 others(34): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0072 others(34): Show |
37 | 314 | 0.1178 | -7 | c.-11 others(28): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL4_chr1_39673648_39696433 | 39695452 | GGAAGAAA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(233): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(67): Show |
236 | 420 | 0.5619 | -7 | c.-41 others(18): Show |
HPCAL4 | ENSG00000116983.13 | transcript | ENST00000372844.8 | protein_coding | 4020 | chr1 | TogoVar | |||||||
HPD_chr12_121834527_121863859 | 121844895 | TAAATAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp1 others(53): Show |
a0001a0010 | a0001c0001a0001c0012a0010c0018 | a0001c0001t0001a0001c0012t0001a0010c0018t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(36): Show |
56 | 406 | 0.1379 | -7 | c.832 others(24): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 11/13 | chr12 | TogoVar | |||||||
HPD_chr12_121834527_121863859 | 121852622 | CTTTTTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG01261.hp1 others(9): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0006a0005c0005others(1): Show | a0001c0001t0001a0004c0006t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0156 a0001c0001t0001g0174 a0001c0001t0001g0176 others(9): Show |
12 | 406 | 0.0296 | -7 | c.414 others(24): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 7/13 | chr12 | TogoVar | |||||||
HPF1_chr4_169724470_169762944 | 169743408 | CCTTTTTT | C | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0014 a0001c0004t0001g0071 a0001c0004t0001g0072 others(3): Show |
7 | 320 | 0.0219 | -7 | c.498 others(24): Show |
HPF1 | ENSG00000056050.7 | transcript | ENST00000393381.3 | protein_coding | 4/7 | chr4 | TogoVar | |||||||
HPN_chr19_35036721_35071573 | 35048069 | AAAGAAAG | A | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 a0001c0001t0002g0266 a0001c0001t0002g0273 |
3 | 384 | 0.0078 | -7 | c.17- others(22): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HPN_chr19_35036721_35071573 | 35064149 | TCAGCAGG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(271): Show |
310 | 384 | 0.8073 | -7 | c.812 others(24): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HPRT1_chrX_134455165_134505668 | 134499482 | CAAAACAA | C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 276 | 0.0036 | -7 | c.610 others(22): Show |
HPRT1 | ENSG00000165704.15 | transcript | ENST00000298556.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HPS1_chr10_98411198_98451935 | 98451262 | TATCTATC | T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02559.hp1 others(4): Show |
a0001a0017 | a0001c0001a0017c0039 | a0001c0001t0003a0001c0001t0005a0017c0039t0003 | a0001c0001t0003g0013 a0001c0001t0003g0162 a0001c0001t0005g0196 others(2): Show |
7 | 434 | 0.0161 | -7 | c.-45 others(18): Show |
HPS1 | ENSG00000107521.21 | transcript | ENST00000361490.9 | protein_coding | 4328 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98542026 | TCCCTGAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(122): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 others(122): Show |
125 | 142 | 0.8803 | -7 | c.132 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98544712 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(65): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0038 others(65): Show |
68 | 142 | 0.4789 | -7 | c.132 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99094540 | ATTTTTTT | A | intron_variant | MODIFIER | HG03490.hp1 NA18946.hp1 NA18950.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0002 | a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0055 others(4): Show |
7 | 142 | 0.0493 | -7 | c.610 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99117417 | GAAAAAAA | G | intron_variant | MODIFIER | HG00438.hp2 HG01993.hp2 NA18965.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0036 a0001c0001t0004g0115 a0002c0002t0002g0043 others(3): Show |
6 | 142 | 0.0423 | -7 | c.610 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99169504 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01255.hp2 HG02055.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0002others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(7): Show |
10 | 142 | 0.0704 | -7 | c.449 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99180889 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0003g0114 others(6): Show |
9 | 142 | 0.0634 | -7 | c.449 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99186542 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(44): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0034 others(44): Show |
47 | 142 | 0.3310 | -7 | c.449 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HPX_chr11_6426049_6445987 | 6440567 | TAAAAAAA | T | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02647.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0102 a0001c0002t0001g0044 others(6): Show |
13 | 432 | 0.0301 | -7 | c.143 others(20): Show |
HPX | ENSG00000110169.12 | transcript | ENST00000265983.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
HRH1_chr3_11149493_11268557 | 11208153 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(82): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0001g0076 others(82): Show |
85 | 352 | 0.2415 | -7 | c.-35 others(26): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HRH1_chr3_11149493_11268557 | 11237664 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG01943.hp2 HG02109.hp2 others(20): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0002g0104 a0001c0001t0002g0143 a0001c0001t0002g0152 others(20): Show |
23 | 352 | 0.0653 | -7 | c.-35 others(26): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HRH1_chr3_11149493_11268557 | 11250208 | ATTTTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02027.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0015 others(25): Show |
28 | 352 | 0.0796 | -7 | c.-35 others(24): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HR_chr8_22109419_22136010 | 22113842 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01517.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0011others(5): Show | a0001c0001t0017a0002c0002t0004a0002c0002t0011others(8): Show | a0001c0001t0017g0157 a0002c0002t0004g0003 a0002c0002t0004g0082 others(10): Show |
15 | 408 | 0.0368 | -7 | c.*18 others(18): Show |
HR | ENSG00000168453.16 | transcript | ENST00000381418.9 | protein_coding | 576 | chr8 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 86990836 | ATTTTTTT | A | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0030 | a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 others(5): Show |
8 | 154 | 0.0520 | -7 | c.124 others(26): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13492615 | AAAGAAAG | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00735.hp1 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(26): Show | a0001c0001t0003g0103 a0001c0001t0003g0107 a0001c0001t0003g0108 others(81): Show |
84 | 338 | 0.2485 | -7 | c.*35 others(18): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1416 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13492626 | AAAGAACG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(192): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(55): Show | a0001c0001t0001g0131 a0001c0001t0001g0174 a0001c0001t0004g0019 others(192): Show |
195 | 338 | 0.5769 | -7 | c.*35 others(18): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1405 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13560289 | CAAAAAAA | C | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0010a0001c0001t0021a0001c0001t0023others(6): Show | a0001c0001t0010g0029 a0001c0001t0021g0319 a0001c0001t0023g0024 others(6): Show |
9 | 338 | 0.0266 | -7 | c.599 others(26): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13593233 | CAAAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0026a0001c0001t0027others(2): Show | a0001c0001t0011g0058 a0001c0001t0011g0062 a0001c0001t0026g0056 others(4): Show |
7 | 338 | 0.0207 | -7 | c.599 others(24): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 25820010 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG02040.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0038 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0115 others(4): Show |
7 | 164 | 0.0427 | -7 | c.734 others(28): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25852773 | CTTCATAT | C | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG03098.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0007a0001c0001t0033a0003c0003t0008 | a0001c0001t0007g0080 a0001c0001t0033g0129 a0003c0003t0008g0136 |
3 | 164 | 0.0183 | -7 | c.734 others(28): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25883145 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(98): Show |
101 | 164 | 0.6159 | -7 | c.734 others(28): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 26109509 | AGGACCTG | A | intron_variant | MODIFIER | HG01496.hp1 HG02258.hp2 HG02976.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0007t0006a0002c0002t0030others(1): Show | a0001c0001t0002g0148 a0001c0007t0006g0049 a0002c0002t0030g0142 others(1): Show |
4 | 164 | 0.0244 | -7 | c.735 others(26): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST5_chr6_114050596_114348023 | 114080885 | TGTACCCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0008others(6): Show | a0001c0001t0004g0172 a0001c0002t0001g0095 a0001c0002t0001g0100 others(30): Show |
33 | 206 | 0.1602 | -7 | c.-32 others(26): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
HS3ST5_chr6_114050596_114348023 | 114276616 | AAAAAAAC | A | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01433.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0144 a0001c0001t0004g0172 a0001c0002t0001g0095 others(4): Show |
7 | 206 | 0.0340 | -7 | c.-33 others(28): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132621971 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00673.hp1 HG03239.hp1 NA18949.hp2 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0186 a0001c0001t0001g0193 a0003c0010t0001g0199 |
3 | 201 | 0.0149 | -7 | c.*62 others(18): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 4043 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132637836 | AATATTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01169.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0003 | a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0080 others(23): Show |
26 | 201 | 0.1294 | -7 | c.106 others(26): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 4/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132963001 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG02622.hp1 NA18986.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0002 | a0001c0001t0001g0178 a0001c0009t0002g0198 |
2 | 201 | 0.0100 | -7 | c.-44 others(18): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 4373 | chrX | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96254415 | GAAAAAAA | G | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG06807.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0024others(1): Show | a0001c0001t0001g0077 a0001c0001t0005g0085 a0001c0001t0024g0060 others(1): Show |
4 | 116 | 0.0345 | -7 | c.707 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96464019 | GTTTTTTT | G | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01361.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0003g0052 others(4): Show |
7 | 116 | 0.0603 | -7 | c.708 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |