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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIK2_chr6_101388708_102075083 | 101762073 | CCCTCCCT others(14): Show |
C | intron_variant | MODIFIER | HG03516.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0019a0001c0010t0016 | a0001c0001t0019g0023 a0001c0010t0016g0060 |
2 | 116 | 0.0172 | -21 | c.952 others(40): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120876154 | ACCACCAT others(14): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0016 | 1 | 126 | 0.0079 | -21 | c.116 others(38): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRIN2A_chr16_9748408_10187428 | 10055072 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp2 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0048 | a0001c0003t0015g0071 a0001c0003t0015g0072 a0001c0003t0048g0143 |
3 | 166 | 0.0181 | -21 | c.415 others(42): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
GRIN3B_chr19_995419_1014732 | 997242 | AGGGAATG others(14): Show |
A | upstream_gene_variant | MODIFIER | NA19003.hp1 | a0101 | a0101c0083 | a0101c0083t0001 | a0101c0083t0001g0098 | 1 | 444 | 0.0023 | -21 | c.-31 others(32): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 3176 | chr19 | TogoVar | |||||||
GRIN3B_chr19_995419_1014732 | 997275 | CGGGGTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0002 | 1 | 444 | 0.0023 | -21 | c.-31 others(32): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 3143 | chr19 | TogoVar | |||||||
GRIP1_chr12_66342431_66684076 | 66531253 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0088 | 1 | 197 | 0.0051 | -21 | c.419 others(38): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | |||||||
GRIP1_chr12_66342431_66684076 | 66593226 | CTCCTAAG others(14): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 222 | 0.0045 | -21 | c.136 others(38): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 2/24 | chr12 | TogoVar | |||||||
GRK2_chr11_67261473_67291556 | 67289276 | AGCCCCGC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0151 others(3): Show |
9 | 300 | 0.0300 | -21 | c.*38 others(32): Show |
GRK2 | ENSG00000173020.11 | transcript | ENST00000308595.10 | protein_coding | 2721 | chr11 | TogoVar | |||||||
GRK5_chr10_119202571_119464745 | 119292031 | TCTCCTCC others(14): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0017 | 1 | 190 | 0.0053 | -21 | c.53- others(38): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119292121 | TCTCCTCA others(14): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0091 | 1 | 199 | 0.0050 | -21 | c.53- others(38): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRK7_chr3_141758408_141824352 | 141823440 | ATTTTTTT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0237 a0001c0001t0021g0238 |
2 | 33 | 0.0606 | -21 | c.*63 others(32): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 4089 | chr3 | TogoVar | |||||||
GRM1_chr6_146024062_146442601 | 146260804 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0018a0001c0008t0009 | a0001c0004t0018g0002 a0001c0008t0009g0001 |
2 | 28 | 0.0714 | -21 | c.951 others(40): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GRM1_chr6_146024062_146442601 | 146378335 | GCTGCAGA others(14): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0016 | a0003c0016t0010 | a0003c0016t0010g0158 | 1 | 156 | 0.0064 | -21 | c.160 others(40): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 7093694 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 80 | 0.0125 | -21 | c.520 others(40): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 126643310 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 107 | 0.0093 | -21 | c.135 others(42): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 127015001 | AAAGAAGA others(14): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 50 | 0.0200 | -21 | c.727 others(40): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 127015176 | GAGAAGAA others(14): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0054 | 1 | 35 | 0.0286 | -21 | c.727 others(40): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 127206622 | TCAGAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02486.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0049 others(1): Show |
4 | 108 | 0.0370 | -21 | c.510 others(40): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59227045 | CTTTCTTT others(14): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0015 | 1 | 406 | 0.0025 | -21 | c.382 others(38): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GRP_chr18_59215158_59235771 | 59234650 | ATATATAC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0001 a0001c0004t0002g0015 |
3 | 406 | 0.0074 | -21 | c.*41 others(32): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3880 | chr18 | TogoVar | |||||||
GRSF1_chr4_70810783_70844890 | 70840012 | CTTGGGCG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01952.hp2 others(26): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(23): Show |
29 | 95 | 0.3053 | -21 | c.-20 others(30): Show |
GRSF1 | ENSG00000132463.15 | transcript | ENST00000254799.11 | protein_coding | 123 | chr4 | TogoVar | |||||||
GRXCR1_chr4_42887713_43035658 | 42897938 | ATTATTAT others(14): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00673.hp1 others(55): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 others(54): Show |
58 | 336 | 0.1726 | -21 | c.384 others(38): Show |
GRXCR1 | ENSG00000215203.3 | transcript | ENST00000399770.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRXCR1_chr4_42887713_43035658 | 42932587 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | NA19030.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0018 a0001c0001t0003g0206 |
2 | 330 | 0.0061 | -21 | c.385 others(40): Show |
GRXCR1 | ENSG00000215203.3 | transcript | ENST00000399770.3 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
GSDMD_chr8_143553346_143568062 | 143557316 | CGAAGGAT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp1 HG02258.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0017 others(3): Show |
7 | 416 | 0.0168 | -21 | c.-11 others(32): Show |
GSDMD | ENSG00000104518.11 | transcript | ENST00000262580.9 | protein_coding | 1029 | chr8 | TogoVar | |||||||
GSDMD_chr8_143553346_143568062 | 143557367 | CTGCCGCT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 385 | 0.0026 | -21 | c.-10 others(32): Show |
GSDMD | ENSG00000104518.11 | transcript | ENST00000262580.9 | protein_coding | 978 | chr8 | TogoVar | |||||||
GSDMD_chr8_143553346_143568062 | 143557385 | ATGATGCC others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 416 | 0.0024 | -21 | c.-10 others(32): Show |
GSDMD | ENSG00000104518.11 | transcript | ENST00000262580.9 | protein_coding | 960 | chr8 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85677418 | GCATTGTC others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02572.hp1 others(2): Show |
a0002a0009 | a0002c0012a0002c0016a0009c0013 | a0002c0012t0019a0002c0012t0032a0002c0016t0001others(2): Show | a0002c0012t0019g0239 a0002c0012t0032g0192 a0002c0016t0001g0197 others(2): Show |
5 | 288 | 0.0174 | -21 | c.*48 others(32): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 1219 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27869623 | TCTGCGTC others(14): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0002g0047 a0001c0001t0004g0227 a0001c0002t0001g0095 others(3): Show |
6 | 238 | 0.0252 | -21 | c.550 others(40): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27946635 | GAAAGAAA others(14): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 238 | 0.0042 | -21 | c.397 others(40): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSG1_chr12_13078532_13108667 | 13078960 | CTGCCCAA others(14): Show |
C | downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 446 | 0.0022 | -21 | c.*59 others(32): Show |
GSG1 | ENSG00000111305.19 | transcript | ENST00000651961.1 | protein_coding | 4571 | chr12 | TogoVar | |||||||
GSKIP_chr14_96358526_96392288 | 96386496 | CTGTGTTG others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012 | 1 | 406 | 0.0025 | -21 | c.*81 others(30): Show |
GSKIP | ENSG00000100744.15 | transcript | ENST00000555181.6 | protein_coding | 4/4 | 818 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GSN_chr9_121263162_121337842 | 121283180 | TAGTTAGG others(14): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03209.hp2 HG03225.hp2 others(2): Show |
a0001a0004a0013others(1): Show | a0001c0001a0004c0006a0013c0013others(1): Show | a0001c0001t0001a0004c0006t0004a0013c0013t0001others(1): Show | a0001c0001t0001g0183 a0001c0001t0001g0258 a0004c0006t0004g0256 others(2): Show |
5 | 320 | 0.0156 | -21 | c.-10 others(38): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GSPT2_chrX_51738442_51751232 | 51746359 | GTATGACA others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
7 | 310 | 0.0226 | -21 | c.*84 others(30): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 128 | chrX | TogoVar | |||||||
GSS_chr20_34923432_34960806 | 34938140 | GAGCCACT others(14): Show |
G | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 350 | 0.0029 | -21 | c.609 others(38): Show |
GSS | ENSG00000100983.12 | transcript | ENST00000651619.1 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
GSTM2_chr1_109663057_109680286 | 109669588 | CACTCCCA others(14): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0119 | 1 | 354 | 0.0028 | -21 | c.360 others(34): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654186 | GAAAGGAA others(14): Show |
G | upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 336 | 0.0030 | -21 | c.-22 others(32): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1912 | chr1 | TogoVar | |||||||
GSTO2_chr10_104264184_104309950 | 104272587 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01891.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0006a0001c0002t0026others(3): Show | a0001c0002t0002g0060 a0001c0002t0002g0124 a0001c0002t0002g0126 others(6): Show |
9 | 16 | 0.5625 | -21 | c.-23 others(40): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144133130 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0004g0015 a0001c0001t0007g0023 a0001c0001t0007g0046 others(8): Show |
11 | 122 | 0.0902 | -21 | c.521 others(38): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTF2B_chr1_88847633_88896567 | 88854897 | ATTAGCTA others(14): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 370 | 0.0027 | -21 | c.818 others(38): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
GTF2H5_chr6_158163350_158204344 | 158169529 | AGTATATT others(14): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0108a0001c0001t0109 | a0001c0001t0108g0073 a0001c0001t0109g0074 |
2 | 271 | 0.0074 | -21 | c.-34 others(36): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74517001 | TTTGTTGT others(14): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0225 a0002c0007t0001g0238 |
2 | 216 | 0.0093 | -21 | c.422 others(38): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF2IRD2B_chr7_75087590_75154817 | 75119191 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 22 | 0.0455 | -21 | c.239 others(38): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF3C2_chr2_27320854_27361764 | 27346330 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03486.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0141 a0001c0002t0001g0243 a0001c0003t0001g0227 |
3 | 9 | 0.3333 | -21 | c.-24 others(38): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323678 | CGTTGTGT others(14): Show |
C | upstream_gene_variant | MODIFIER | NA19077.hp1 | a0022 | a0022c0015 | a0022c0015t0002 | a0022c0015t0002g0017 | 1 | 137 | 0.0073 | -21 | c.-49 others(32): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4883 | chrX | TogoVar | |||||||
GUCA1C_chr3_108902792_108958879 | 108955590 | TAAAAAAA others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 64 | 0.0156 | -21 | c.-18 others(32): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1712 | chr3 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106754065 | CTTCACAT others(14): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0199 | 1 | 254 | 0.0039 | -21 | c.183 others(42): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106769411 | GGGAAGTA others(14): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG06807.hp2 NA18522.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0009a0001c0003t0014 | a0001c0003t0003g0247 a0001c0003t0009g0251 a0001c0003t0014g0248 |
3 | 254 | 0.0118 | -21 | c.183 others(40): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696920 | TTATATAT others(14): Show |
T | upstream_gene_variant | MODIFIER | NA18983.hp1 NA19088.hp2 NA19090.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0021 a0001c0004t0001g0019 a0001c0004t0001g0020 |
3 | 225 | 0.0133 | -21 | c.-49 others(30): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 322 | chr12 | TogoVar | |||||||
GUSB_chr7_65955684_65987213 | 65963570 | AAGTCTCA others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(137): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(61): Show |
140 | 416 | 0.3365 | -21 | c.178 others(38): Show |
GUSB | ENSG00000169919.17 | transcript | ENST00000304895.9 | protein_coding | 11/11 | chr7 | TogoVar | |||||||
GYPC_chr2_126651158_126701667 | 126656660 | GTTAGGTG others(14): Show |
G | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 414 | 0.0024 | -21 | c.49+ others(34): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 1/3 | chr2 | TogoVar |