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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(91): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0113 | 1 | 89 | 0.0112 | 98 | c.410 others(115): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(91): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 89 | 0.0112 | 98 | c.410 others(115): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(91): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 89 | 0.0112 | 98 | c.410 others(115): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(91): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 89 | 0.0112 | 98 | c.410 others(115): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(91): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0055 | 1 | 89 | 0.0112 | 98 | c.410 others(115): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(91): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02615.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0068 a0005c0007t0001g0094 |
2 | 90 | 0.0222 | 98 | c.410 others(115): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763236 | C | CCCCGCCC others(91): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0003 | 1 | 344 | 0.0029 | 98 | c.*76 others(109): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3985 | chr11 | TogoVar | |||||||
GFI1_chr1_92468043_92491925 | 92483080 | G | GGGACCGG others(91): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0102 | 1 | 340 | 0.0029 | 98 | c.116 others(111): Show |
GFI1 | ENSG00000162676.13 | transcript | ENST00000294702.6 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30662869 | C | CTTTCTTT others(91): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0112 | 1 | 235 | 0.0043 | 98 | c.79- others(113): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42182656 | A | ATATATAT others(91): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 154 | 0.0065 | 98 | c.125 others(117): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42182683 | C | CGTGTGTA others(91): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0147 | 1 | 93 | 0.0108 | 98 | c.125 others(117): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GNAT3_chr7_80453635_80517064 | 80497543 | C | CACATATA others(91): Show |
intron_variant | MODIFIER | HG02293.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0186 |
2 | 142 | 0.0141 | 98 | c.119 others(115): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132817912 | C | CCACACCT others(91): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19064.hp1 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0042 | a0001c0003t0004g0227 a0001c0003t0042g0216 |
2 | 210 | 0.0095 | 98 | c.134 others(115): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132817912 | C | CCACACCT others(91): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0270 | 1 | 209 | 0.0048 | 98 | c.134 others(115): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55024280 | A | ACACACAT others(91): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0118 | 1 | 440 | 0.0023 | 98 | c.664 others(113): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55024284 | A | ACATGCAC others(91): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0102 | 1 | 329 | 0.0030 | 98 | c.664 others(113): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55024284 | A | ACATGCAC others(91): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(22): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0004 a0002c0004t0001g0094 a0002c0004t0001g0095 others(20): Show |
25 | 353 | 0.0708 | 98 | c.664 others(113): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217524847 | C | CGTGGAAA others(91): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 1 | 162 | 0.0062 | 98 | c.109 others(117): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66683371 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02976.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0103 |
3 | 208 | 0.0144 | 98 | c.143 others(115): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPR139_chr16_20023239_20078890 | 20041110 | A | AGAGGAGA others(91): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0199 | 1 | 362 | 0.0028 | 98 | c.128 others(115): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168119275 | T | TATACATA others(91): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 249 | 0.0040 | 98 | c.-44 others(117): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168119275 | T | TATACATA others(91): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0113 others(29): Show |
36 | 284 | 0.1268 | 98 | c.-44 others(117): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168119275 | T | TATACATA others(91): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02055.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0012 | a0001c0001t0009a0001c0001t0014a0001c0005t0009others(1): Show | a0001c0001t0009g0116 a0001c0001t0009g0121 a0001c0001t0009g0122 others(4): Show |
7 | 255 | 0.0275 | 98 | c.-44 others(117): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR176_chr15_39794008_39925266 | 39894052 | A | ACCTCCCG others(91): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG02895.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0003t0004 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(7): Show |
10 | 100 | 0.1000 | 98 | c.172 others(117): Show |
GPR176 | ENSG00000166073.12 | transcript | ENST00000561100.2 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
GPR176_chr15_39794008_39925266 | 39894052 | A | ACCTCCCG others(91): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00609.hp2 others(194): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(192): Show |
197 | 287 | 0.6864 | 98 | c.172 others(117): Show |
GPR176 | ENSG00000166073.12 | transcript | ENST00000561100.2 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
GPR176_chr15_39794008_39925266 | 39894052 | A | ACCTTCCG others(91): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 91 | 0.0110 | 98 | c.172 others(117): Show |
GPR176 | ENSG00000166073.12 | transcript | ENST00000561100.2 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46631389 | A | ACTCCTGG others(91): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0213 | 1 | 298 | 0.0034 | 98 | c.162 others(115): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46631422 | A | AGCCTGTG others(91): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00738.hp2 others(45): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0003g0006 a0001c0001t0003g0083 a0001c0001t0003g0084 others(45): Show |
48 | 171 | 0.2807 | 98 | c.162 others(115): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46631759 | C | CCTCACGG others(91): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0233 | 1 | 326 | 0.0031 | 98 | c.162 others(115): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46631813 | C | CGGCCTGT others(91): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 326 | 0.0031 | 98 | c.162 others(115): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998483 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 356 | 0.0028 | 98 | c.167 others(115): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRIK1_chr21_29531933_29944996 | 29888197 | C | CTTTCTTT others(91): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 118 | 0.0085 | 98 | c.118 others(117): Show |
GRIK1 | ENSG00000171189.18 | transcript | ENST00000327783.9 | protein_coding | 1/17 | chr21 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113366423 | C | CGGGGGAG others(91): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0194 | 1 | 286 | 0.0035 | 98 | c.-23 others(109): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 2294 | chr13 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27869644 | C | CCTCTCTC others(91): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0044 | a0001c0001t0010g0006 a0001c0001t0044g0156 |
2 | 141 | 0.0142 | 98 | c.550 others(117): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 312209 | C | CGGGGTGG others(91): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 153 | 0.0065 | 98 | c.916 others(113): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 312309 | G | GGGTGGTG others(91): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 100 | 0.0100 | 98 | c.916 others(113): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
GYG2_chrX_2823930_2887818 | 2844549 | C | CACGCATG others(91): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0134 | 1 | 314 | 0.0032 | 98 | c.149 others(115): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2845553 | T | TTATATAC others(91): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 121 | 0.0083 | 98 | c.149 others(115): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
H1-7_chr12_48323980_48335279 | 48332468 | C | CCCCCCCA others(91): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 NA18963.hp1 NA18998.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 3 | 343 | 0.0087 | 98 | c.*24 others(109): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2190 | chr12 | TogoVar | |||||||
H1-7_chr12_48323980_48335279 | 48332473 | T | TCCACCTC others(91): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG03041.hp1 NA19005.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 3 | 251 | 0.0120 | 98 | c.*24 others(109): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2195 | chr12 | TogoVar | |||||||
H1-7_chr12_48323980_48335279 | 48332473 | T | TCCACCTC others(91): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 HG03098.hp1 HG03486.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0000 a0003c0003t0001g0000 |
4 | 252 | 0.0159 | 98 | c.*24 others(109): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2195 | chr12 | TogoVar | |||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(91): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18747.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 a0001c0002t0001g0248 |
2 | 110 | 0.0182 | 98 | c.771 others(115): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(91): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 109 | 0.0092 | 98 | c.771 others(115): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730109 | A | AAAGAAAA others(91): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0280 | 1 | 180 | 0.0056 | 98 | c.106 others(117): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730127 | A | AAGAAAGA others(91): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 61 | 0.0164 | 98 | c.106 others(117): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88379687 | A | AATATATA others(91): Show |
intron_variant | MODIFIER | HG03654.hp2 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 a0002c0002t0001g0127 |
2 | 51 | 0.0392 | 98 | c.199 others(113): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380374 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02735.hp1 HG03831.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0005 | a0001c0001t0001a0001c0008t0001a0002c0005t0001 | a0001c0001t0001g0091 a0001c0008t0001g0057 a0001c0008t0001g0061 others(1): Show |
4 | 90 | 0.0444 | 98 | c.199 others(115): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HGD_chr3_120623172_120687239 | 120624712 | G | GTGTATAT others(91): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01255.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0112 others(2): Show |
5 | 107 | 0.0467 | 98 | c.*36 others(109): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 3459 | chr3 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43181124 | A | AGGGAGAG others(91): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 216 | 0.0046 | 98 | c.101 others(117): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HIGD1C_chr12_50947544_50975607 | 50948895 | G | GGGGAGGG others(91): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 NA18954.hp1 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 a0001c0001t0003g0066 |
4 | 325 | 0.0123 | 98 | c.-38 others(109): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3648 | chr12 | TogoVar |