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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H3-3B_chr17_75771434_75784779 | 75772795 | CTACTGGC others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG02717.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0032 | a0001c0001t0003g0006 a0001c0001t0003g0018 a0001c0001t0032g0034 |
12 | 432 | 0.0278 | -15 | c.*57 others(26): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 3638 | chr17 | TogoVar | |||||||
H3-3B_chr17_75771434_75784779 | 75782993 | TCAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 432 | 0.0023 | -15 | c.-33 others(26): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 3215 | chr17 | TogoVar | |||||||
H3C11_chr6_27866845_27877346 | 27876576 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02970.hp1 HG03130.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 |
10 | 374 | 0.0267 | -15 | c.-42 others(26): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 4231 | chr6 | TogoVar | |||||||
H3C14_chr1_149835687_149846208 | 149842092 | CCCCGCCC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02970.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 302 | 0.0265 | -15 | c.-95 others(24): Show |
H3C14 | ENSG00000203811.2 | transcript | ENST00000369158.2 | protein_coding | 885 | chr1 | TogoVar | |||||||
H3C14_chr1_149835687_149846208 | 149842097 | CCCCGCCC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00733.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 20 | 302 | 0.0662 | -15 | c.-95 others(24): Show |
H3C14 | ENSG00000203811.2 | transcript | ENST00000369158.2 | protein_coding | 890 | chr1 | TogoVar | |||||||
H3C14_chr1_149835687_149846208 | 149842102 | CCCCGTCC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG02040.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 302 | 0.0265 | -15 | c.-96 others(24): Show |
H3C14 | ENSG00000203811.2 | transcript | ENST00000369158.2 | protein_coding | 895 | chr1 | TogoVar | |||||||
H3C15_chr1_149847608_149858125 | 149851673 | TGACGGGA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02040.hp2 HG02165.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 13 | 332 | 0.0392 | -15 | c.-98 others(24): Show |
H3C15 | ENSG00000203852.4 | transcript | ENST00000403683.2 | protein_coding | 934 | chr1 | TogoVar | |||||||
H3C15_chr1_149847608_149858125 | 149851695 | ACGGGACG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01496.hp2 HG01891.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 332 | 0.0211 | -15 | c.-95 others(24): Show |
H3C15 | ENSG00000203852.4 | transcript | ENST00000403683.2 | protein_coding | 912 | chr1 | TogoVar | |||||||
H3C15_chr1_149847608_149858125 | 149851700 | ACGGGACG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 332 | 0.0151 | -15 | c.-95 others(24): Show |
H3C15 | ENSG00000203852.4 | transcript | ENST00000403683.2 | protein_coding | 907 | chr1 | TogoVar | |||||||
H3Y1_chr5_17649868_17660849 | 17652550 | AGTGTGTA others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18939.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 376 | 0.0053 | -15 | c.*25 others(26): Show |
H3Y1 | ENSG00000269466.4 | transcript | ENST00000598383.3 | protein_coding | 2317 | chr5 | TogoVar | |||||||
H4C13_chr6_27868148_27878534 | 27876576 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02970.hp2 HG03130.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 10 | 384 | 0.0260 | -15 | c.-30 others(26): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 3043 | chr6 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827842 | TTTCTTTC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0001g0000 |
11 | 236 | 0.0466 | -15 | c.-48 others(26): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4814 | chr1 | TogoVar | |||||||
H4C15_chr1_149855764_149866159 | 149865947 | AAAAGAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 206 | 0.0049 | -15 | c.-48 others(26): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4789 | chr1 | TogoVar | |||||||
H4C4_chr6_26183710_26194112 | 26189445 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp1 HG02080.hp1 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 372 | 0.0081 | -15 | c.-38 others(24): Show |
H4C4 | ENSG00000277157.2 | transcript | ENST00000614247.2 | protein_coding | 334 | chr6 | TogoVar | |||||||
H6PD_chr1_9229774_9276337 | 9234724 | CCGCCCCC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(183): Show |
a0001a0002a0010others(11): Show | a0001c0001a0001c0003a0001c0004others(26): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0022others(79): Show | a0001c0001t0001g0042 a0001c0001t0001g0217 a0001c0001t0008g0002 others(156): Show |
186 | 404 | 0.4604 | -15 | c.-35 others(24): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 49 | chr1 | TogoVar | |||||||
HAAO_chr2_42762089_42797583 | 42784027 | CGGTGCAT others(8): Show |
C | intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0125 | 1 | 410 | 0.0024 | -15 | c.160 others(30): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
HABP4_chr9_96445169_96496336 | 96456779 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03453.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0226 a0001c0001t0003g0071 |
2 | 306 | 0.0065 | -15 | c.350 others(32): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HABP4_chr9_96445169_96496336 | 96456781 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01074.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0113 a0001c0001t0001g0145 others(8): Show |
12 | 306 | 0.0392 | -15 | c.350 others(32): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123569988 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02897.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0019a0001c0002t0001 | a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0236 others(2): Show |
5 | 350 | 0.0143 | -15 | c.274 others(32): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
HACD3_chr15_65525463_65583349 | 65537949 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0283 | 1 | 328 | 0.0031 | -15 | c.87+ others(30): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537951 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0199 | 1 | 328 | 0.0031 | -15 | c.87+ others(30): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537955 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 328 | 0.0031 | -15 | c.87+ others(30): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104734338 | ATTATACT others(8): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0122 |
2 | 346 | 0.0058 | -15 | c.251 others(34): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 22/23 | chr6 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104737282 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 346 | 0.0029 | -15 | c.251 others(34): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 22/23 | chr6 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104774080 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 346 | 0.0029 | -15 | c.186 others(34): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 17/23 | chr6 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104831918 | AAGAAGAG others(8): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 346 | 0.0029 | -15 | c.534 others(32): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104835542 | GAAAAGAA others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(114): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0230 a0001c0001t0001g0231 others(113): Show |
117 | 346 | 0.3382 | -15 | c.403 others(32): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 5/23 | chr6 | TogoVar | |||||||
HADHA_chr2_26185635_26249632 | 26204873 | CCATCGTG others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02895.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0128 a0001c0001t0001g0137 |
3 | 274 | 0.0110 | -15 | c.108 others(32): Show |
HADHA | ENSG00000084754.12 | transcript | ENST00000380649.8 | protein_coding | 11/19 | chr2 | TogoVar | |||||||
HAND2_chr4_173521091_173535229 | 173533194 | CCACTCCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | -15 | c.-39 others(26): Show |
HAND2 | ENSG00000164107.9 | transcript | ENST00000359562.4 | protein_coding | 2966 | chr4 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41733039 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG02647.hp2 HG02809.hp2 others(1): Show |
a0002a0014 | a0002c0002a0014c0014 | a0002c0002t0001a0014c0014t0008 | a0002c0002t0001g0097 a0014c0014t0008g0125 a0014c0014t0008g0126 others(1): Show |
4 | 374 | 0.0107 | -15 | c.470 others(30): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
HAPLN1_chr5_83632805_83725855 | 83688642 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01256.hp1 HG01433.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0033others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0104 others(6): Show |
9 | 372 | 0.0242 | -15 | c.-26 others(34): Show |
HAPLN1 | ENSG00000145681.11 | transcript | ENST00000274341.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
HARBI1_chr11_46597861_46622227 | 46599336 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 258 | 0.0039 | -15 | c.*41 others(26): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 3524 | chr11 | TogoVar | |||||||
HARS1_chr5_140668905_140696370 | 140688103 | CAAACAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(74): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0004t0001a0005c0008t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(31): Show |
77 | 384 | 0.2005 | -15 | c.180 others(32): Show |
HARS1 | ENSG00000170445.16 | transcript | ENST00000504156.7 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
HARS2_chr5_140686455_140704305 | 140688103 | CAAACAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(75): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
78 | 384 | 0.2031 | -15 | c.-35 others(26): Show |
HARS2 | ENSG00000112855.17 | transcript | ENST00000230771.9 | protein_coding | 3351 | chr5 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171970496 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01943.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0106 a0001c0001t0001g0158 others(3): Show |
6 | 326 | 0.0184 | -15 | c.823 others(32): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17055134 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0238 | 1 | 400 | 0.0025 | -15 | c.787 others(30): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055136 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0363 | 1 | 400 | 0.0025 | -15 | c.787 others(30): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055138 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03654.hp1 NA20905.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0165 a0002c0001t0001g0195 a0002c0001t0001g0342 |
3 | 400 | 0.0075 | -15 | c.787 others(30): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055140 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0239 | 1 | 400 | 0.0025 | -15 | c.787 others(30): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157052546 | GTTGGAAC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(198): Show |
a0001a0005a0008others(5): Show | a0001c0001a0001c0003a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0057 others(195): Show |
201 | 352 | 0.5710 | -15 | c.473 others(22): Show |
p.Met others(13): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 4/9 | 695/1623 | 473/1095 | 158/364 | chr5 | TogoVar | |||
HAVCR1_chr5_157024413_157064116 | 157057386 | GGAAAGAA others(8): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 352 | 0.0028 | -15 | c.46+ others(28): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
HAVCR2_chr5_157080832_157114044 | 157083947 | TTTATTAT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01516.hp1 HG01517.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(23): Show |
34 | 380 | 0.0895 | -15 | c.*31 others(26): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 1884 | chr5 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135030343 | ATGATTGA others(8): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0080 a0001c0001t0025g0081 |
2 | 348 | 0.0058 | -15 | c.430 others(32): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 4/17 | chr6 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135032477 | ATTTATAT others(8): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 348 | 0.0029 | -15 | c.430 others(32): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 4/17 | chr6 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135035750 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0032 | a0001c0001t0024g0053 a0001c0001t0032g0037 a0001c0001t0032g0038 |
3 | 348 | 0.0086 | -15 | c.430 others(32): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 4/17 | chr6 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135042824 | AACAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(165): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0014others(29): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(147): Show |
168 | 348 | 0.4828 | -15 | c.110 others(30): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 2/17 | chr6 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154159 | CGGGGCGG others(8): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 432 | 0.0023 | -15 | c.300 others(28): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HBZ_chr16_147644_159503 | 158269 | TATTGAAA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 432 | 0.0023 | -15 | c.*38 others(26): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 3767 | chr16 | TogoVar | |||||||
HCCS_chrX_11106332_11128086 | 11109098 | GGAGAGAG others(8): Show |
G | upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 236 | 0.0042 | -15 | c.-24 others(26): Show |
HCCS | ENSG00000004961.15 | transcript | ENST00000380762.5 | protein_coding | 2233 | chrX | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32053036 | GGCCCCAG others(8): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 290 | 0.0035 | -15 | c.62+ others(28): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |