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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTF2IRD1_chr7_74448906_74607605 | 74537446 | TATACATA others(12): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 260 | 0.0038 | -19 | c.141 others(36): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF2IRD2B_chr7_75087590_75154817 | 75119191 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01433.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0001 | a0001c0001t0004g0045 a0001c0004t0001g0096 |
2 | 23 | 0.0870 | -19 | c.239 others(36): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF3C2_chr2_27320854_27361764 | 27346330 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02922.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0003t0001a0001c0008t0001 | a0001c0002t0001g0008 a0001c0002t0001g0184 a0001c0002t0001g0239 others(3): Show |
8 | 14 | 0.5714 | -19 | c.-24 others(36): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
GTPBP3_chr19_17332553_17347731 | 17343011 | AAGTGTGT others(12): Show |
A | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0053 | 1 | 406 | 0.0025 | -19 | c.*13 others(30): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 281 | chr19 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323677 | ACGTTGTG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0008 | 1 | 153 | 0.0065 | -19 | c.-49 others(30): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4882 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323678 | CGTTGTGT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01943.hp1 HG02040.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0035 a0001c0001t0002g0005 a0001c0001t0002g0039 others(5): Show |
8 | 144 | 0.0556 | -19 | c.-49 others(30): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4883 | chrX | TogoVar | |||||||
GUCA1ANB_chr6_42150406_42168418 | 42162090 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 228 | 0.0044 | -19 | c.10- others(32): Show |
GUCA1ANB | ENSG00000287363.4 | transcript | ENST00000623004.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14684582 | TTCCTTCC others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 |
3 | 226 | 0.0133 | -19 | c.396 others(36): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 3/26 | chr12 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14684590 | TTCCTTCC others(12): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 a0001c0003t0001g0120 a0001c0003t0001g0121 |
5 | 191 | 0.0262 | -19 | c.396 others(36): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 3/26 | chr12 | TogoVar | |||||||
GXYLT2_chr3_72883046_72981915 | 72979189 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02258.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0027others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0044 others(12): Show |
15 | 71 | 0.2113 | -19 | c.*40 others(30): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 2275 | chr3 | TogoVar | |||||||
GYG1_chr3_148986540_149036775 | 148990940 | ATGAATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02647.hp1 |
a0002 | a0002c0004 | a0002c0004t0048a0002c0004t0049a0002c0004t0050 | a0002c0004t0048g0196 a0002c0004t0049g0195 a0002c0004t0050g0194 |
3 | 412 | 0.0073 | -19 | c.-70 others(28): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 599 | chr3 | TogoVar | |||||||
GYG1_chr3_148986540_149036775 | 149017582 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02559.hp1 others(12): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0022a0001c0003t0039others(2): Show | a0001c0003t0004g0014 a0001c0003t0004g0042 a0001c0003t0004g0331 others(9): Show |
15 | 101 | 0.1485 | -19 | c.609 others(36): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GYS1_chr19_48963130_48998309 | 48979336 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(124): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 others(100): Show |
127 | 178 | 0.7135 | -19 | c.117 others(38): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540497 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0078 | 1 | 413 | 0.0024 | -19 | c.-27 others(30): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2677 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540499 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG03491.hp1 HG04115.hp1 others(2): Show |
a0002a0004 | a0002c0002a0004c0010 | a0002c0002t0001a0004c0010t0001 | a0002c0002t0001g0003 a0002c0002t0001g0014 a0004c0010t0001g0031 |
5 | 417 | 0.0120 | -19 | c.-27 others(30): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2675 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540501 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02080.hp2 HG03834.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0014 a0002c0002t0001g0070 |
9 | 419 | 0.0215 | -19 | c.-27 others(30): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2673 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540503 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp1 HG03688.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 a0002c0002t0001g0064 |
2 | 420 | 0.0048 | -19 | c.-27 others(30): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2671 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540504 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 417 | 0.0024 | -19 | c.-27 others(30): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2670 | chr3 | TogoVar | |||||||
H2AB2_chrX_155375709_155386299 | 155375945 | TCTTATGT others(12): Show |
T | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 229 | 0.0044 | -19 | c.-48 others(30): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 4763 | chrX | TogoVar | |||||||
H2AC14_chr6_27809302_27819777 | 27815035 | TTTTCCAC others(12): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 384 | 0.0026 | -19 | c.-31 others(28): Show |
H2AC14 | ENSG00000276368.2 | transcript | ENST00000333151.5 | protein_coding | 259 | chr6 | TogoVar | |||||||
H2AZ2_chr7_44826978_44853087 | 44843137 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01167.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0018 | a0001c0001t0004g0150 a0001c0001t0006g0013 a0001c0001t0006g0014 others(1): Show |
11 | 24 | 0.4583 | -19 | c.81+ others(32): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
H2BC14_chr6_27810022_27820489 | 27815035 | TTTTCCAC others(12): Show |
T | frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0004 | a0004c0002 | a0004c0002t0002 | a0004c0002t0002g0000 | 1 | 378 | 0.0026 | -19 | c.-8_ others(24): Show |
p.Met others(3): Show |
H2BC14 | ENSG00000273703.2 | transcript | ENST00000621112.2 | protein_coding | 1/1 | 15/468 | 1/381 | 1/126 | chr6 | TogoVar | |||
H2BC9_chr6_26246614_26257075 | 26252247 | GGCTGGTC others(12): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG01109.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 27 | 376 | 0.0718 | -19 | c.*21 others(28): Show |
H2BC9 | ENSG00000275713.3 | transcript | ENST00000619466.3 | protein_coding | 173 | chr6 | TogoVar | |||||||
H3C10_chr6_27805051_27815536 | 27815035 | TTTTCCAC others(12): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 390 | 0.0026 | -19 | c.*45 others(30): Show |
H3C10 | ENSG00000278828.2 | transcript | ENST00000685041.1 | protein_coding | 4500 | chr6 | TogoVar | |||||||
H3C11_chr6_27866845_27877346 | 27876576 | TAAAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp2 NA18960.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 2 | 14 | 0.1429 | -19 | c.-42 others(30): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 4231 | chr6 | TogoVar | |||||||
H3C7_chr6_26245142_26255635 | 26252247 | GGCTGGTC others(12): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG01109.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 27 | 372 | 0.0726 | -19 | c.-16 others(30): Show |
H3C7 | ENSG00000277775.2 | transcript | ENST00000618052.2 | protein_coding | 1613 | chr6 | TogoVar | |||||||
H4C13_chr6_27868148_27878534 | 27876576 | TAAAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 14 | 0.1429 | -19 | c.-30 others(30): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 3043 | chr6 | TogoVar | |||||||
H4C15_chr1_149855764_149866159 | 149865943 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 204 | 0.0098 | -19 | c.-48 others(30): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4785 | chr1 | TogoVar | |||||||
HABP4_chr9_96445169_96496336 | 96456777 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0178 a0001c0001t0001g0251 others(1): Show |
4 | 303 | 0.0132 | -19 | c.350 others(36): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123569988 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG02027.hp1 NA19090.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0137 a0001c0001t0004g0190 a0001c0002t0001g0029 |
3 | 21 | 0.1429 | -19 | c.274 others(36): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
HACD3_chr15_65525463_65583349 | 65537949 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0252 | 1 | 249 | 0.0040 | -19 | c.87+ others(34): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537953 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0247 a0001c0001t0009g0034 |
2 | 303 | 0.0066 | -19 | c.87+ others(34): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HARBI1_chr11_46597861_46622227 | 46606772 | AGCTGGGA others(12): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0144 a0001c0001t0001g0145 others(2): Show |
7 | 256 | 0.0273 | -19 | c.671 others(36): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 2/2 | chr11 | TogoVar | |||||||
HAS2_chr8_121607116_121646440 | 121622039 | CCTTCATC others(12): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01071.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0013others(23): Show | a0001c0001t0004g0015 a0001c0001t0004g0027 a0001c0001t0004g0029 others(43): Show |
57 | 374 | 0.1524 | -19 | c.628 others(36): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171970496 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01361.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0143 a0001c0001t0001g0145 others(4): Show |
7 | 13 | 0.5385 | -19 | c.823 others(36): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17055138 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG02273.hp1 others(12): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0030 a0002c0001t0001g0137 a0002c0001t0001g0138 others(11): Show |
15 | 382 | 0.0393 | -19 | c.787 others(34): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055142 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 374 | 0.0027 | -19 | c.787 others(34): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055144 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0177 | 1 | 319 | 0.0031 | -19 | c.787 others(34): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157040798 | GCTGAGGC others(12): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 350 | 0.0029 | -19 | c.837 others(36): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 6/8 | chr5 | TogoVar | |||||||
HAVCR2_chr5_157080832_157114044 | 157092878 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02300.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0001 | a0001c0001t0004g0067 a0003c0003t0001g0293 |
2 | 45 | 0.0444 | -19 | c.676 others(36): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 184351 | CTCCTCTC others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -19 | c.*32 others(30): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 3173 | chr16 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135035750 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(11): Show | a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0002g0001 others(64): Show |
80 | 97 | 0.8247 | -19 | c.430 others(36): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 4/17 | chr6 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32054475 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0085 a0001c0001t0001g0201 others(10): Show |
14 | 45 | 0.3111 | -19 | c.62+ others(34): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCLS1_chr3_121626399_121665903 | 121646214 | TTATATAT others(12): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0219 | 1 | 388 | 0.0026 | -19 | c.288 others(36): Show |
HCLS1 | ENSG00000180353.11 | transcript | ENST00000314583.8 | protein_coding | 4/13 | chr3 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45481768 | CATGATGC others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00738.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0051 a0001c0001t0001g0116 a0001c0001t0003g0049 others(7): Show |
10 | 224 | 0.0446 | -19 | c.850 others(38): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45534404 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 a0001c0001t0003g0120 |
2 | 28 | 0.0714 | -19 | c.850 others(38): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
HCN4_chr15_73314859_73373958 | 73342024 | TCCATGGA others(12): Show |
T | intron_variant | MODIFIER | HG03688.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 2 | 342 | 0.0058 | -19 | c.120 others(38): Show |
HCN4 | ENSG00000138622.4 | transcript | ENST00000261917.4 | protein_coding | 2/7 | chr15 | TogoVar | |||||||
HCRTR1_chr1_31612689_31632613 | 31627007 | TCGGGGGA others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18967.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0043 a0001c0001t0007g0044 |
2 | 332 | 0.0060 | -19 | c.*29 others(26): Show |
HCRTR1 | ENSG00000121764.12 | transcript | ENST00000403528.7 | protein_coding | 9/9 | 29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HCRTR2_chr6_55169515_55287617 | 55187411 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01256.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0079 a0001c0001t0001g0143 a0001c0001t0001g0172 others(7): Show |
10 | 160 | 0.0625 | -19 | c.223 others(38): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HCRT_chr17_42179060_42190452 | 42187582 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01928.hp1 HG01934.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 75 | 0.0533 | -19 | c.-22 others(30): Show |
HCRT | ENSG00000161610.1 | transcript | ENST00000293330.1 | protein_coding | 2131 | chr17 | TogoVar |