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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HORMAD2_chr22_30075464_30182075 | 30139254 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG01106.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(36): Show | 40 | 350 | 0.1143 | 8 | c.819 others(27): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HORMAD2_chr22_30075464_30182075 | 30158583 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(147): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(145): Show | 150 | 350 | 0.4286 | 8 | c.820 others(27): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HORMAD2_chr22_30075464_30182075 | 30158611 | G | GTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01123.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(50): Show | 53 | 350 | 0.1514 | 8 | c.820 others(27): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HOXA10_chr7_27165605_27179320 | 27169093 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00673.hp1 others(58): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0029others(7): Show | 61 | 436 | 0.1399 | 8 | c.*27 others(19): Show |
HOXA10 | ENSG00000253293.6 | transcript | ENST00000283921.5 | protein_coding | 1511 | chr7 | TogoVar | ||||||
HOXA10_chr7_27165605_27179320 | 27169132 | G | GTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03139.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0005a0001c0007t0005 | a0001c0001t0005g0012a0001c0007t0005g0031 | 3 | 436 | 0.0069 | 8 | c.*27 others(19): Show |
HOXA10 | ENSG00000253293.6 | transcript | ENST00000283921.5 | protein_coding | 1472 | chr7 | TogoVar | ||||||
HOXA13_chr7_27189364_27205091 | 27202822 | T | TAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0006g0006a0001c0001t0008g0007a0001c0001t0010g0010others(1): Show | 8 | 416 | 0.0192 | 8 | c.-27 others(19): Show |
HOXA13 | ENSG00000106031.9 | transcript | ENST00000649031.1 | protein_coding | 2732 | chr7 | TogoVar | ||||||
HOXA3_chr7_27102010_27157583 | 27111485 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01934.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0071a0001c0001t0001g0074a0001c0001t0001g0077others(24): Show | 27 | 326 | 0.0828 | 8 | c.-12 others(25): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
HOXA3_chr7_27102010_27157583 | 27121213 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01175.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0016a0001c0001t0002g0243others(5): Show | 11 | 326 | 0.0337 | 8 | c.-12 others(27): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
HOXA3_chr7_27102010_27157583 | 27121220 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00738.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0071a0001c0001t0001g0083a0001c0001t0001g0084others(9): Show | 12 | 326 | 0.0368 | 8 | c.-12 others(27): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
HOXA9_chr7_27157438_27170537 | 27169093 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG00733.hp2 others(56): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0002g0002others(9): Show | 59 | 432 | 0.1366 | 8 | c.-36 others(19): Show |
HOXA9 | ENSG00000078399.19 | transcript | ENST00000343483.7 | protein_coding | 3557 | chr7 | TogoVar | ||||||
HOXA9_chr7_27157438_27170537 | 27169132 | G | GTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG03139.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0004 | 3 | 432 | 0.0069 | 8 | c.-36 others(19): Show |
HOXA9 | ENSG00000078399.19 | transcript | ENST00000343483.7 | protein_coding | 3596 | chr7 | TogoVar | ||||||
HOXB13_chr17_48719763_48733750 | 48728875 | T | TTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0002others(2): Show | 31 | 426 | 0.0728 | 8 | c.-28 others(17): Show |
HOXB13 | ENSG00000159184.8 | transcript | ENST00000290295.8 | protein_coding | 126 | chr17 | TogoVar | ||||||
HOXB1_chr17_48523526_48536011 | 48528163 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp2 others(51): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0006t0001 | a0001c0001t0001g0001a0002c0002t0001g0017a0002c0006t0001g0013 | 54 | 426 | 0.1268 | 8 | c.*13 others(19): Show |
HOXB1 | ENSG00000120094.9 | transcript | ENST00000239174.7 | protein_coding | 362 | chr17 | TogoVar | ||||||
HOXB2_chr17_48537655_48550109 | 48538808 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 HG02080.hp2 HG02165.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 11 | 426 | 0.0258 | 8 | c.*42 others(19): Show |
HOXB2 | ENSG00000173917.11 | transcript | ENST00000330070.6 | protein_coding | 3846 | chr17 | TogoVar | ||||||
HOXB3_chr17_48543870_48595241 | 48561183 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0042a0001c0001t0001g0080others(36): Show | 46 | 374 | 0.1230 | 8 | c.-24 others(27): Show |
HOXB3 | ENSG00000120093.12 | transcript | ENST00000498678.6 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
HOXB6_chr17_48590751_48609986 | 48600991 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02145.hp2 HG02486.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0090a0001c0001t0002g0088a0001c0001t0004g0089others(3): Show | 6 | 394 | 0.0152 | 8 | c.-78 others(25): Show |
HOXB6 | ENSG00000108511.10 | transcript | ENST00000225648.4 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
HOXB7_chr17_48602232_48616017 | 48611620 | A | AAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004a0001c0001t0004g0013a0001c0001t0004g0067others(2): Show | 30 | 414 | 0.0725 | 8 | c.-70 others(17): Show |
HOXB7 | ENSG00000260027.5 | transcript | ENST00000239165.9 | protein_coding | 604 | chr17 | TogoVar | ||||||
HOXB8_chr17_48607346_48620292 | 48611620 | A | AAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(2): Show | 30 | 422 | 0.0711 | 8 | c.*15 others(19): Show |
HOXB8 | ENSG00000120068.7 | transcript | ENST00000239144.5 | protein_coding | 725 | chr17 | TogoVar | ||||||
HOXC4_chr12_54048835_54061030 | 54057247 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG02818.hp2 HG02896.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0004g0005others(4): Show | 12 | 400 | 0.0300 | 8 | c.*20 others(19): Show |
HOXC4 | ENSG00000198353.8 | transcript | ENST00000430889.3 | protein_coding | 1218 | chr12 | TogoVar | ||||||
HOXC4_chr12_54048835_54061030 | 54058950 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02040.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0003g0002others(2): Show | 12 | 400 | 0.0300 | 8 | c.*37 others(19): Show |
HOXC4 | ENSG00000198353.8 | transcript | ENST00000430889.3 | protein_coding | 2921 | chr12 | TogoVar | ||||||
HOXC8_chr12_54003985_54017769 | 54008826 | A | ATCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG02809.hp2 HG03130.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0018g0001others(2): Show | 9 | 306 | 0.0294 | 8 | c.-45 others(17): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 158 | chr12 | TogoVar | ||||||
HOXC8_chr12_54003985_54017769 | 54014004 | T | TTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02165.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009 | a0001c0001t0002g0001a0001c0001t0008g0001a0001c0001t0009g0001 | 3 | 306 | 0.0098 | 8 | c.*26 others(19): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1236 | chr12 | TogoVar | ||||||
HOXC8_chr12_54003985_54017769 | 54017457 | G | GTAGCTGG others(1): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01167.hp2 others(23): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0008a0001c0001t0002g0001a0001c0001t0003g0001others(13): Show | 26 | 306 | 0.0850 | 8 | c.*60 others(19): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 4689 | chr12 | TogoVar | ||||||
HOXC9_chr12_53995161_54008337 | 54001429 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0005a0001c0001t0006g0005 | 12 | 342 | 0.0351 | 8 | c.538 others(23): Show |
HOXC9 | ENSG00000180806.5 | transcript | ENST00000303450.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HOXD10_chr2_176111778_176124937 | 176119435 | G | GTATATAT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG00735.hp2 others(34): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0008a0001c0001t0013a0001c0001t0030others(6): Show | a0001c0001t0008g0001a0001c0001t0008g0004a0001c0001t0008g0006others(9): Show | 37 | 428 | 0.0865 | 8 | c.*22 others(17): Show |
HOXD10 | ENSG00000128710.6 | transcript | ENST00000249501.5 | protein_coding | 2/2 | 235 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
HOXD11_chr2_176102280_176114754 | 176108659 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0001g0028a0001c0001t0002g0005others(7): Show | 51 | 430 | 0.1186 | 8 | c.782 others(23): Show |
HOXD11 | ENSG00000128713.14 | transcript | ENST00000249504.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HOXD11_chr2_176102280_176114754 | 176111840 | A | AAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG02129.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0004a0001c0001t0003g0001a0001c0001t0003g0010others(1): Show | 6 | 430 | 0.0140 | 8 | c.*26 others(19): Show |
HOXD11 | ENSG00000128713.14 | transcript | ENST00000249504.7 | protein_coding | 2087 | chr2 | TogoVar | ||||||
HOXD13_chr2_176087721_176100944 | 176094385 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01891.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0010a0001c0002t0002g0010a0001c0002t0003g0010others(1): Show | 4 | 414 | 0.0097 | 8 | c.782 others(21): Show |
HOXD13 | ENSG00000128714.6 | transcript | ENST00000392539.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HOXD3_chr2_176152307_176178098 | 176177007 | G | GGCAAGGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01070.hp2 others(56): Show |
a0001a0002a0003 | a0001c0003a0002c0006a0003c0008 | a0001c0003t0003a0001c0003t0005a0001c0003t0013others(2): Show | a0001c0003t0003g0004a0001c0003t0003g0008a0001c0003t0003g0020others(28): Show | 59 | 332 | 0.1777 | 8 | c.*47 others(19): Show |
HOXD3 | ENSG00000128652.12 | transcript | ENST00000683222.1 | protein_coding | 3910 | chr2 | TogoVar | ||||||
HOXD8_chr2_176124705_176137695 | 176127763 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01361.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0002g0001a0001c0001t0003g0002others(5): Show | 22 | 400 | 0.0550 | 8 | c.-26 others(19): Show |
HOXD8 | ENSG00000175879.9 | transcript | ENST00000313173.6 | protein_coding | 1941 | chr2 | TogoVar | ||||||
HOXD8_chr2_176124705_176137695 | 176127799 | C | CACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002a0001c0001t0005g0002 | 88 | 400 | 0.2200 | 8 | c.-25 others(19): Show |
HOXD8 | ENSG00000175879.9 | transcript | ENST00000313173.6 | protein_coding | 1905 | chr2 | TogoVar | ||||||
HOXD8_chr2_176124705_176137695 | 176136150 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02647.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0001a0001c0003t0003g0001 | 4 | 400 | 0.0100 | 8 | c.*45 others(19): Show |
HOXD8 | ENSG00000175879.9 | transcript | ENST00000313173.6 | protein_coding | 3456 | chr2 | TogoVar | ||||||
HOXD9_chr2_176117719_176129937 | 176119435 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01070.hp1 others(29): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(4): Show | 32 | 404 | 0.0792 | 8 | c.-33 others(19): Show |
HOXD9 | ENSG00000128709.13 | transcript | ENST00000249499.8 | protein_coding | 3283 | chr2 | TogoVar | ||||||
HOXD9_chr2_176117719_176129937 | 176127763 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01361.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0002g0001others(1): Show | 21 | 404 | 0.0520 | 8 | c.*35 others(19): Show |
HOXD9 | ENSG00000128709.13 | transcript | ENST00000249499.8 | protein_coding | 2827 | chr2 | TogoVar | ||||||
HOXD9_chr2_176117719_176129937 | 176127799 | C | CACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(90): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0002g0001a0002c0002t0001g0001others(5): Show | 93 | 404 | 0.2302 | 8 | c.*36 others(19): Show |
HOXD9 | ENSG00000128709.13 | transcript | ENST00000249499.8 | protein_coding | 2863 | chr2 | TogoVar | ||||||
HP1BP3_chr1_20735266_20792307 | 20746186 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01952.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0308a0001c0001t0003g0024a0001c0001t0003g0025others(9): Show | 12 | 378 | 0.0318 | 8 | c.125 others(25): Show |
HP1BP3 | ENSG00000127483.19 | transcript | ENST00000438032.6 | protein_coding | 11/12 | chr1 | TogoVar | ||||||
HP1BP3_chr1_20735266_20792307 | 20766950 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01884.hp2 HG01952.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0070a0001c0001t0001g0073a0001c0001t0003g0024others(50): Show | 53 | 378 | 0.1402 | 8 | c.735 others(23): Show |
HP1BP3 | ENSG00000127483.19 | transcript | ENST00000438032.6 | protein_coding | 7/12 | chr1 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10314218 | A | AGCATTAT others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0278a0001c0001t0005g0279a0001c0001t0005g0280 | 3 | 314 | 0.0096 | 8 | c.-11 others(29): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10349702 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0193a0001c0001t0003g0069others(3): Show | 6 | 314 | 0.0191 | 8 | c.-11 others(29): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10395113 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0085a0001c0001t0002g0155others(3): Show | 6 | 314 | 0.0191 | 8 | c.-11 others(27): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL4_chr1_39673648_39696433 | 39679185 | G | GCTTCTTC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(178): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(44): Show | 181 | 420 | 0.4310 | 8 | c.*33 others(19): Show |
HPCAL4 | ENSG00000116983.13 | transcript | ENST00000372844.8 | protein_coding | 4/4 | 3350 | chr1 | TogoVar | |||||
HPDL_chr1_45321895_45333710 | 45324438 | C | CTAAATAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 HG02257.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0000a0001c0003t0001g0000 | 9 | 410 | 0.0220 | 8 | c.-27 others(19): Show |
HPDL | ENSG00000186603.7 | transcript | ENST00000334815.6 | protein_coding | 2456 | chr1 | TogoVar | ||||||
HPDL_chr1_45321895_45333710 | 45326473 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(96): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(3): Show | 99 | 410 | 0.2415 | 8 | c.-67 others(17): Show |
HPDL | ENSG00000186603.7 | transcript | ENST00000334815.6 | protein_coding | 421 | chr1 | TogoVar | ||||||
HPD_chr12_121834527_121863859 | 121834987 | T | TTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG02129.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0009 | a0001c0001t0001a0002c0002t0001a0004c0009t0001 | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0033others(13): Show | 17 | 406 | 0.0419 | 8 | c.*47 others(19): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 4539 | chr12 | TogoVar | ||||||
HPD_chr12_121834527_121863859 | 121852602 | A | ACAAATGA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0013a0003c0003 | a0001c0001t0001a0001c0013t0001a0003c0003t0001 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118others(15): Show | 23 | 406 | 0.0567 | 8 | c.414 others(25): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 7/13 | chr12 | TogoVar | ||||||
HPGD_chr4_174485175_174527488 | 174497568 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00735.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0026a0001c0001t0001g0037others(20): Show | 31 | 414 | 0.0749 | 8 | c.422 others(25): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HPGD_chr4_174485175_174527488 | 174504814 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01515.hp1 HG01517.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0038a0001c0001t0002g0187a0001c0001t0002g0201others(1): Show | 7 | 414 | 0.0169 | 8 | c.421 others(25): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HPN_chr19_35036721_35071573 | 35048028 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01516.hp1 NA18612.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0126a0001c0002t0002g0130a0001c0002t0002g0145 | 3 | 384 | 0.0078 | 8 | c.17- others(23): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HPN_chr19_35036721_35071573 | 35048082 | A | AAGAAAAG others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02148.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0053a0001c0001t0002g0044a0001c0001t0002g0049others(8): Show | 11 | 384 | 0.0287 | 8 | c.17- others(23): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HPN_chr19_35036721_35071573 | 35057261 | C | CACGGTTT others(1): Show |
intron_variant | MODIFIER | HG03927.hp2 HG04115.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107a0001c0001t0002g0129a0001c0001t0002g0288 | 3 | 384 | 0.0078 | 8 | c.161 others(25): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 4/12 | chr19 | TogoVar |