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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HORMAD2_chr22_30075464_30182075 | 30078607 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01361.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(11): Show |
14 | 97 | 0.1443 | 7 | c.-19 others(18): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 1856 | chr22 | TogoVar | |||||||
HORMAD2_chr22_30075464_30182075 | 30103649 | A | ATTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG01496.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084 a0001c0001t0001g0321 a0001c0001t0001g0323 others(13): Show |
16 | 94 | 0.1702 | 7 | c.257 others(22): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HORMAD2_chr22_30075464_30182075 | 30129217 | C | CAAAAAAA | intron_variant | MODIFIER | HG02027.hp1 HG02074.hp1 HG02135.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 others(8): Show |
11 | 269 | 0.0409 | 7 | c.819 others(24): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HOXA13_chr7_27189364_27205091 | 27202822 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01261.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0008g0007 others(4): Show |
9 | 102 | 0.0882 | 7 | c.-27 others(18): Show |
HOXA13 | ENSG00000106031.9 | transcript | ENST00000649031.1 | protein_coding | 2732 | chr7 | TogoVar | |||||||
HOXB13_chr17_48719763_48733750 | 48728875 | T | TCTCTCTC | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01258.hp1 HG01978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0002g0002 |
4 | 90 | 0.0444 | 7 | c.-28 others(16): Show |
HOXB13 | ENSG00000159184.8 | transcript | ENST00000290295.8 | protein_coding | 126 | chr17 | TogoVar | |||||||
HOXB1_chr17_48523526_48536011 | 48528163 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01069.hp1 others(56): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0012g0027 a0002c0002t0002g0002 others(1): Show |
59 | 217 | 0.2719 | 7 | c.*13 others(18): Show |
HOXB1 | ENSG00000120094.9 | transcript | ENST00000239174.7 | protein_coding | 362 | chr17 | TogoVar | |||||||
HOXB2_chr17_48537655_48550109 | 48548497 | A | AGGGGTGG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01255.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0004 | a0001c0001t0006a0002c0005t0007a0003c0004t0003 | a0001c0001t0006g0008 a0002c0005t0007g0013 a0003c0004t0003g0011 |
12 | 418 | 0.0287 | 7 | c.-35 others(18): Show |
HOXB2 | ENSG00000173917.11 | transcript | ENST00000330070.6 | protein_coding | 3389 | chr17 | TogoVar | |||||||
HOXB3_chr17_48543870_48595241 | 48548497 | A | AGGGGTGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01255.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0003g0333 a0001c0001t0004g0236 a0001c0001t0004g0332 others(8): Show |
12 | 367 | 0.0327 | 7 | c.*18 others(18): Show |
HOXB3 | ENSG00000120093.12 | transcript | ENST00000498678.6 | protein_coding | 372 | chr17 | TogoVar | |||||||
HOXB7_chr17_48602232_48616017 | 48611620 | A | AAAAAAAG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01123.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0006 a0001c0001t0002g0043 a0001c0001t0002g0044 others(2): Show |
14 | 378 | 0.0370 | 7 | c.-70 others(16): Show |
HOXB7 | ENSG00000260027.5 | transcript | ENST00000239165.9 | protein_coding | 604 | chr17 | TogoVar | |||||||
HOXB8_chr17_48607346_48620292 | 48611620 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01123.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0008a0001c0002t0009others(2): Show | a0001c0001t0003g0006 a0001c0002t0008g0016 a0001c0002t0008g0058 others(4): Show |
14 | 386 | 0.0363 | 7 | c.*15 others(18): Show |
HOXB8 | ENSG00000120068.7 | transcript | ENST00000239144.5 | protein_coding | 725 | chr17 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54005988 | T | TCCTGGGG | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 4 | 304 | 0.0132 | 7 | c.-32 others(18): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 2996 | chr12 | TogoVar | |||||||
HOXC9_chr12_53995161_54008337 | 54005988 | T | TCCTGGGG | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02647.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 4 | 340 | 0.0118 | 7 | c.*33 others(18): Show |
HOXC9 | ENSG00000180806.5 | transcript | ENST00000303450.5 | protein_coding | 2652 | chr12 | TogoVar | |||||||
HOXD10_chr2_176111778_176124937 | 176111826 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01884.hp2 HG02027.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0022 | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0003g0003 others(2): Show |
17 | 154 | 0.1104 | 7 | c.-50 others(18): Show |
HOXD10 | ENSG00000128710.6 | transcript | ENST00000249501.5 | protein_coding | 4951 | chr2 | TogoVar | |||||||
HOXD11_chr2_176102280_176114754 | 176111826 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01884.hp1 HG02027.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0029 others(5): Show |
19 | 156 | 0.1218 | 7 | c.*26 others(18): Show |
HOXD11 | ENSG00000128713.14 | transcript | ENST00000249504.7 | protein_coding | 2073 | chr2 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10385362 | G | GCAGTGTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(226): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(226): Show |
229 | 312 | 0.7340 | 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 | 39687909 | A | AAAAAAAT | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0023 | a0001c0001t0002g0076 a0001c0001t0011g0013 a0001c0001t0011g0109 others(1): Show |
8 | 196 | 0.0408 | 7 | c.-8- others(22): Show |
HPCAL4 | ENSG00000116983.13 | transcript | ENST00000372844.8 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
HPCAL4_chr1_39673648_39696433 | 39695452 | G | GGAAGAAA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01175.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0005others(2): Show | a0001c0001t0002g0002 a0001c0002t0004g0095 a0001c0002t0005g0091 others(8): Show |
26 | 182 | 0.1429 | 7 | c.-41 others(18): Show |
HPCAL4 | ENSG00000116983.13 | transcript | ENST00000372844.8 | protein_coding | 4020 | chr1 | TogoVar | |||||||
HPD_chr12_121834527_121863859 | 121835028 | T | TTTCTTTC | downstream_gene_variant | MODIFIER | HG01168.hp2 HG02280.hp2 NA19055.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(2): Show |
5 | 388 | 0.0129 | 7 | c.*46 others(18): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 4498 | chr12 | TogoVar | |||||||
HPGDS_chr4_94293535_94347836 | 94340312 | T | TCTTTTTC | intron_variant | MODIFIER | HG00733.hp1 HG01192.hp1 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 others(2): Show |
5 | 290 | 0.0172 | 7 | c.-10 others(24): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HPGD_chr4_174485175_174527488 | 174497568 | C | CTTTCTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(48): Show |
69 | 74 | 0.9324 | 7 | c.422 others(24): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
HPRT1_chrX_134455165_134505668 | 134467041 | C | CTTTTTTT | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0226 a0001c0001t0001g0227 others(1): Show |
5 | 96 | 0.0521 | 7 | c.28- others(22): Show |
HPRT1 | ENSG00000165704.15 | transcript | ENST00000298556.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HPS3_chr3_149124638_149178732 | 149151587 | T | TAAAAAAA | intron_variant | MODIFIER | HG03139.hp1 HG03453.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0008a0001c0002t0017others(2): Show | a0001c0002t0002g0058 a0001c0002t0008g0064 a0001c0002t0017g0057 others(3): Show |
6 | 256 | 0.0234 | 7 | c.124 others(24): Show |
HPS3 | ENSG00000163755.9 | transcript | ENST00000296051.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HPS5_chr11_18273676_18327140 | 18302831 | G | GGGGGGGA | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(24): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0076 a0001c0004t0001g0301 a0001c0004t0001g0305 others(22): Show |
27 | 177 | 0.1525 | 7 | c.897 others(24): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98571940 | C | CTTTCTTT | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01081.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0052 others(28): Show |
31 | 53 | 0.5849 | 7 | c.132 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99094541 | T | TATATATA | intron_variant | MODIFIER | HG01167.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0095 a0001c0001t0006g0008 |
2 | 132 | 0.0152 | 7 | c.610 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132146 | G | GAAGAAGA | intron_variant | MODIFIER | HG01928.hp1 HG02273.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015 a0002c0002t0002g0017 |
2 | 116 | 0.0172 | 7 | c.610 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE_chr4_83287461_83339848 | 83300814 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01433.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0085 a0001c0001t0002g0101 others(18): Show |
21 | 255 | 0.0824 | 7 | c.147 others(24): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
HPSE_chr4_83287461_83339848 | 83321987 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp2 others(19): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0006others(5): Show | a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0302 others(19): Show |
22 | 39 | 0.5641 | 7 | c.373 others(22): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 539384 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00609.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0009 others(7): Show |
47 | 263 | 0.1787 | 7 | c.-40 others(18): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 3809 | chr11 | TogoVar | |||||||
HRH1_chr3_11149493_11268557 | 11176168 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(18): Show |
21 | 280 | 0.0750 | 7 | c.-36 others(26): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HRH2_chr5_175653071_175715756 | 175658713 | G | GGATGACC | intron_variant | MODIFIER | HG00438.hp1 HG02055.hp1 HG02055.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0045 others(36): Show |
44 | 261 | 0.1686 | 7 | c.-52 others(24): Show |
HRH2 | ENSG00000113749.8 | transcript | ENST00000636584.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HRH2_chr5_175653071_175715756 | 175697462 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01361.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0054 others(18): Show |
22 | 203 | 0.1084 | 7 | c.107 others(28): Show |
HRH2 | ENSG00000113749.8 | transcript | ENST00000636584.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HRH4_chr18_24455637_24484961 | 24470501 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG02647.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0029others(2): Show | a0001c0001t0002g0145 a0001c0001t0002g0188 a0001c0001t0005g0163 others(3): Show |
6 | 80 | 0.0750 | 7 | c.357 others(24): Show |
HRH4 | ENSG00000134489.7 | transcript | ENST00000256906.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 86990837 | T | TATATATA | intron_variant | MODIFIER | HG01256.hp1 HG02965.hp2 HG03831.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0024 | a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0079 others(3): Show |
6 | 88 | 0.0682 | 7 | c.124 others(26): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
HS3ST1_chr4_11388150_11433894 | 11429643 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01884.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0002g0014 others(13): Show |
17 | 34 | 0.5000 | 7 | c.-10 others(18): Show |
HS3ST1 | ENSG00000002587.10 | transcript | ENST00000002596.6 | protein_coding | 750 | chr4 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22818925 | C | CCTTCCTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02895.hp1 others(8): Show |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0001a0003c0008t0002 | a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0110 others(8): Show |
11 | 347 | 0.0317 | 7 | c.485 others(24): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22818951 | C | CTTCCTCA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0211 a0001c0001t0001g0221 others(32): Show |
35 | 246 | 0.1423 | 7 | c.485 others(24): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22819086 | C | CCTTCCCT | intron_variant | MODIFIER | HG01175.hp2 HG02451.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0299 |
3 | 263 | 0.0114 | 7 | c.485 others(24): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13512305 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01074.hp1 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0268 others(23): Show |
26 | 156 | 0.1667 | 7 | c.600 others(26): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13534547 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01952.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0003g0178 a0001c0001t0003g0270 a0001c0001t0006g0120 others(7): Show |
10 | 170 | 0.0588 | 7 | c.600 others(26): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13585186 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01168.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(7): Show | a0001c0001t0004g0018 a0001c0001t0010g0031 a0001c0001t0014g0019 others(8): Show |
11 | 70 | 0.1571 | 7 | c.599 others(26): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3B1_chr17_14296081_14354404 | 14329366 | A | AAAGAAAG | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0063a0001c0002t0003 | a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0063g0360 others(1): Show |
4 | 390 | 0.0103 | 7 | c.555 others(26): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 26098958 | A | AAGGGTGC | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03209.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0001 a0001c0001t0003g0162 a0003c0003t0003g0064 |
3 | 164 | 0.0183 | 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 | 114103857 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01099.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0103 a0001c0001t0002g0126 a0001c0001t0002g0191 others(19): Show |
22 | 75 | 0.2933 | 7 | c.-32 others(26): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96152333 | T | TTTTTTTG | intron_variant | MODIFIER | HG02965.hp1 HG04204.hp2 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0003g0057 others(2): Show |
5 | 35 | 0.1429 | 7 | c.707 others(26): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96270613 | G | GGTATATA | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 others(39): Show |
42 | 116 | 0.3621 | 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 | 96397854 | T | TTATGAGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(63): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 others(63): Show |
66 | 116 | 0.5690 | 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 | 96464138 | C | CAAAAAAA | intron_variant | MODIFIER | HG02080.hp1 HG02895.hp1 NA18747.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0070 a0001c0001t0001g0109 a0001c0001t0002g0088 others(5): Show |
8 | 22 | 0.3636 | 7 | c.708 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96689606 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp1 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0070 others(20): Show |
23 | 30 | 0.7667 | 7 | c.708 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSBP1_chr16_83802978_83824737 | 83822044 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(134): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0017 others(44): Show |
137 | 295 | 0.4644 | 7 | c.*10 others(20): Show |
HSBP1 | ENSG00000230989.8 | transcript | ENST00000433866.7 | protein_coding | 2308 | chr16 | TogoVar |