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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRTP1_chr13_113319163_113369130 | 113367884 | GTGGGCCC others(41): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 92 | 0.0109 | -48 | c.-38 others(59): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 3755 | chr13 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85645985 | CGCTTCCT others(41): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02451.hp2 others(22): Show |
a0001a0004a0018others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0044a0001c0002t0001a0001c0002t0006others(9): Show | a0001c0001t0044g0105 a0001c0002t0001g0018 a0001c0002t0006g0081 others(22): Show |
25 | 288 | 0.0868 | -48 | c.227 others(65): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GUCY1A1_chr4_155661848_155742059 | 155726931 | ACAAAAAT others(41): Show |
A | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0138 | 1 | 328 | 0.0030 | -48 | c.187 others(67): Show |
GUCY1A1 | ENSG00000164116.17 | transcript | ENST00000506455.6 | protein_coding | 9/9 | chr4 | TogoVar | |||||||
GULP1_chr2_188286874_188600926 | 188299145 | CAAGGATG others(41): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00741.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(8): Show | a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 others(34): Show |
37 | 147 | 0.2517 | -48 | c.-17 others(67): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
H1-7_chr12_48323980_48335279 | 48332688 | GGGGGCCG others(41): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | -48 | c.*26 others(59): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2410 | chr12 | TogoVar | |||||||
H2AB2_chrX_155375709_155386299 | 155377215 | AGGTTGGT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 others(1): Show |
144 | 229 | 0.6288 | -48 | c.-35 others(59): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 3493 | chrX | TogoVar | |||||||
H2AB3_chrX_155454415_155465005 | 155463426 | TTGATTTT others(41): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(144): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 others(3): Show |
147 | 214 | 0.6869 | -48 | c.-35 others(59): Show |
H2AB3 | ENSG00000277745.1 | transcript | ENST00000615853.1 | protein_coding | 3422 | chrX | TogoVar | |||||||
H4C11_chr6_27819092_27829480 | 27827116 | GGGGGGCT others(41): Show |
G | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 396 | 0.0025 | -48 | c.*26 others(59): Show |
H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 2637 | chr6 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27827116 | GGGGGGCT others(41): Show |
G | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -48 | c.*40 others(59): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 4057 | chr6 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104727475 | ATATGTAT others(41): Show |
A | downstream_gene_variant | MODIFIER | NA18943.hp2 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 a0001c0001t0001g0287 |
2 | 341 | 0.0059 | -48 | c.*21 others(59): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 618 | chr6 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104727588 | CACACACG others(41): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01928.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0239 a0001c0001t0001g0251 others(1): Show |
5 | 344 | 0.0145 | -48 | c.*20 others(59): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 505 | chr6 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104727612 | CACACACG others(41): Show |
C | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 316 | 0.0032 | -48 | c.*20 others(59): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 481 | chr6 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044440 | AAAGAAAG others(41): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02572.hp1 others(7): Show |
a0004a0008 | a0004c0005a0008c0011 | a0004c0005t0001a0008c0011t0001 | a0004c0005t0001g0006 a0004c0005t0001g0018 a0004c0005t0001g0077 others(4): Show |
10 | 332 | 0.0301 | -48 | c.782 others(65): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 585322 | ACCCCGTC others(41): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01891.hp1 HG02922.hp2 |
a0001 | a0001c0003a0001c0006a0001c0078 | a0001c0003t0004a0001c0006t0010a0001c0078t0008 | a0001c0003t0004g0012 a0001c0006t0010g0167 a0001c0078t0008g0031 |
3 | 372 | 0.0081 | -48 | c.-46 others(59): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4558 | chr19 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 613590 | TGGGGATG others(41): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0325 | 1 | 384 | 0.0026 | -48 | c.182 others(65): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 613614 | TGGGGATG others(41): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01168.hp2 HG01169.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0002a0001c0001t0024a0001c0003t0018others(8): Show | a0001c0001t0002g0058 a0001c0001t0024g0217 a0001c0003t0018g0384 others(10): Show |
13 | 363 | 0.0358 | -48 | c.182 others(65): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18732854 | TGTGTGCG others(41): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 |
2 | 128 | 0.0156 | -48 | c.190 others(67): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18732878 | CGTGTGCG others(41): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0032a0001c0003t0001 | a0001c0002t0032g0018 a0001c0003t0001g0022 |
2 | 132 | 0.0152 | -48 | c.190 others(67): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDLBP_chr2_241222291_241320672 | 241320009 | AGATGCTT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0138 | 1 | 352 | 0.0028 | -48 | c.-45 others(59): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 4338 | chr2 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323961 | TCTTTCTT others(41): Show |
T | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 252 | 0.0040 | -48 | c.178 others(65): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323965 | TCTTCCTT others(41): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02080.hp2 others(4): Show |
a0001a0015 | a0001c0002a0015c0017 | a0001c0002t0001a0015c0017t0001 | a0001c0002t0001g0167 a0001c0002t0001g0178 a0001c0002t0001g0179 others(4): Show |
7 | 95 | 0.0737 | -48 | c.178 others(65): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HERC3_chr4_88587480_88713539 | 88698989 | TTTCCTCA others(41): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01123.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0128 others(16): Show |
20 | 205 | 0.0976 | -48 | c.265 others(67): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HES3_chr1_6239179_6250578 | 6249732 | GGCGAGTC others(41): Show |
G | downstream_gene_variant | MODIFIER | HG02523.hp1 NA18946.hp1 NA18972.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0008 |
6 | 382 | 0.0157 | -48 | c.*42 others(59): Show |
HES3 | ENSG00000173673.9 | transcript | ENST00000377898.4 | protein_coding | 4155 | chr1 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82443764 | GGCCACGG others(41): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01243.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0035 others(23): Show |
28 | 287 | 0.0976 | -48 | c.*13 others(59): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 1120 | chr17 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82443913 | CGGGTCCT others(41): Show |
C | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 398 | 0.0025 | -48 | c.*15 others(59): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 1269 | chr17 | TogoVar | |||||||
HGS_chr17_81679011_81707121 | 81679361 | ATGGGGAT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 412 | 0.0024 | -48 | c.-47 others(59): Show |
HGS | ENSG00000185359.14 | transcript | ENST00000329138.9 | protein_coding | 4649 | chr17 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210465849 | TATTGCAA others(41): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0014 a0001c0001t0001g0095 a0001c0001t0001g0098 others(72): Show |
75 | 168 | 0.4464 | -48 | c.100 others(67): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99656836 | AAAGGAAG others(41): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02723.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0004a0002c0001t0036 | a0001c0002t0004g0089 a0002c0001t0036g0227 |
2 | 274 | 0.0073 | -48 | c.903 others(63): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190314310 | TGTATATA others(41): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02896.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0228 a0002c0002t0006g0229 a0002c0002t0006g0230 others(3): Show |
6 | 366 | 0.0164 | -48 | c.36- others(63): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
HINT3_chr6_125951770_125985244 | 125962241 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(30): Show |
46 | 266 | 0.1729 | -48 | c.202 others(65): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41545622 | ATCACCAC others(41): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02896.hp2 |
a0006a0023 | a0006c0031a0023c0030 | a0006c0031t0010a0023c0030t0025 | a0006c0031t0010g0073 a0023c0030t0025g0090 |
2 | 134 | 0.0149 | -48 | c.520 others(69): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41824768 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0006 | a0004c0006t0041 | a0004c0006t0041g0091 | 1 | 117 | 0.0085 | -48 | c.-80 others(69): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130277907 | TCACCACC others(41): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0221 | a0001c0221t0001 | a0001c0221t0001g0257 | 1 | 256 | 0.0039 | -48 | c.260 others(65): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMGCLL1_chr6_55429373_55584192 | 55539966 | AAGGAAGG others(41): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02132.hp2 HG02523.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0002 | a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0043 others(3): Show |
6 | 331 | 0.0181 | -48 | c.297 others(65): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
HNRNPUL2_chr11_62707630_62732457 | 62711561 | TTAAAAAA others(41): Show |
T | downstream_gene_variant | MODIFIER | HG02630.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 |
2 | 350 | 0.0057 | -48 | c.*36 others(59): Show |
HNRNPUL2 | ENSG00000214753.4 | transcript | ENST00000301785.7 | protein_coding | 1068 | chr11 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79427716 | CCCTTCCT others(41): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0154 a0001c0001t0005g0263 |
2 | 288 | 0.0069 | -48 | c.527 others(67): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HRC_chr19_49146198_49160396 | 49156523 | CTGTGGAT others(41): Show |
C | upstream_gene_variant | MODIFIER | NA18943.hp2 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 404 | 0.0050 | -48 | c.-13 others(59): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1128 | chr19 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213137 | TGGGGATG others(41): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01358.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0002t0001g0006 |
14 | 98 | 0.1429 | -48 | c.*28 others(59): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1822 | chr20 | TogoVar | |||||||
HSD17B11_chr4_87331515_87396188 | 87378817 | AAAATATA others(41): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG03710.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0187 a0001c0002t0001g0252 |
2 | 381 | 0.0052 | -48 | c.318 others(65): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
HSD3B2_chr1_119410150_119428034 | 119421405 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00639.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0002g0003 a0001c0001t0002g0008 others(6): Show |
77 | 440 | 0.1750 | -48 | c.308 others(63): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HSPBAP1_chr3_122734999_122798831 | 122780141 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 348 | 0.0029 | -48 | c.65- others(63): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
HSPBAP1_chr3_122734999_122798831 | 122780190 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01433.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 |
3 | 348 | 0.0086 | -48 | c.65- others(63): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
HSPBAP1_chr3_122734999_122798831 | 122780239 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | NA19000.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0079 |
2 | 338 | 0.0059 | -48 | c.65- others(63): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
HSPBAP1_chr3_122734999_122798831 | 122780288 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096 a0001c0001t0002g0268 |
2 | 339 | 0.0059 | -48 | c.65- others(63): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
HTR1E_chr6_86932528_87021679 | 87010320 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0177 | 1 | 298 | 0.0034 | -48 | c.-18 others(67): Show |
HTR1E | ENSG00000168830.8 | transcript | ENST00000305344.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IBA57_chr1_228160804_228187257 | 228174111 | GGCTGTGG others(41): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0127 | 1 | 388 | 0.0026 | -48 | c.342 others(63): Show |
IBA57 | ENSG00000181873.13 | transcript | ENST00000366711.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IBA57_chr1_228160804_228187257 | 228174464 | GCTGTGGG others(41): Show |
G | intron_variant | MODIFIER | HG02129.hp1 HG02818.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0001t0011a0001c0001t0047others(2): Show | a0001c0001t0007g0008 a0001c0001t0011g0009 a0001c0001t0047g0009 others(2): Show |
5 | 414 | 0.0121 | -48 | c.342 others(63): Show |
IBA57 | ENSG00000181873.13 | transcript | ENST00000366711.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFIH1_chr2_162262074_162323684 | 162321868 | GGAAAAAT others(41): Show |
G | upstream_gene_variant | MODIFIER | HG01071.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0098 | 1 | 218 | 0.0046 | -48 | c.-36 others(59): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 3185 | chr2 | TogoVar | |||||||
IFNA4_chr9_21181618_21192587 | 21184298 | TTCCTTCC others(41): Show |
T | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 420 | 0.0024 | -48 | c.*26 others(59): Show |
IFNA4 | ENSG00000236637.5 | transcript | ENST00000421715.3 | protein_coding | 2319 | chr9 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24162848 | TTTCTTTC others(41): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0335 | 1 | 383 | 0.0026 | -48 | c.368 others(65): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar |