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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLG1_chr16_74442440_74612114 | 74542760 | A | AGGAAGGA others(34): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0058 | 1 | 306 | 0.0033 | 41 | c.439 others(60): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74542762 | G | GAAGGAAG others(34): Show |
intron_variant | MODIFIER | HG02300.hp2 HG04115.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0010 | a0001c0003t0003g0064 a0001c0003t0010g0078 |
2 | 304 | 0.0066 | 41 | c.439 others(60): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74542766 | G | GAAGGAAG others(34): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0327 | 1 | 321 | 0.0031 | 41 | c.439 others(60): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLP2R_chr17_9820924_9897099 | 9879337 | A | ATAAAATA others(34): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02027.hp2 HG02165.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0132 a0001c0001t0001g0294 a0001c0001t0001g0305 others(2): Show |
5 | 378 | 0.0132 | 41 | c.114 others(60): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | chr17 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151849456 | C | CTTTCCTT others(34): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 253 | 0.0040 | 41 | c.912 others(58): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA3_chr4_174631920_174834247 | 174789887 | C | CTCAGGAC others(34): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0186 | 1 | 294 | 0.0034 | 41 | c.72- others(54): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2052116 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 122 | 0.0082 | 41 | c.345 others(60): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117103 | T | TATATATA others(34): Show |
3_prime_UTR_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0129 | a0001c0002t0129g0269 | 1 | 350 | 0.0029 | 41 | c.*56 others(52): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5653 | chr15 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51942589 | C | CTTTCTTT others(34): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 166 | 0.0060 | 41 | c.-29 others(58): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51942592 | T | TCTTTCTT others(34): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0073 | 1 | 370 | 0.0027 | 41 | c.-29 others(58): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2602897 | T | TTTTCTTT others(34): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0012 | 1 | 202 | 0.0050 | 41 | c.-78 others(60): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2639777 | G | GAAGGAGG others(34): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0184 | 1 | 203 | 0.0049 | 41 | c.-78 others(58): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GOLGA6L1_chr15_23122066_23141822 | 23130375 | C | CCCACATC others(34): Show |
frameshift_variant others(1): Show |
HIGH | NA18612.hp2 | a0044 | a0044c0029 | a0044c0029t0016 | a0044c0029t0016g0029 | 1 | 204 | 0.0049 | 41 | c.103 others(50): Show |
p.Glu others(5): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1168/3822 | 1077/2007 | 359/668 | chr15 | TogoVar | |||
GOLM2_chr15_44283719_44420758 | 44288493 | C | CGAGAGAG others(34): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0114 | 1 | 134 | 0.0075 | 41 | c.-53 others(50): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 225 | chr15 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217514516 | G | GTACGAAA others(34): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 186 | 0.0054 | 41 | c.116 others(58): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44444363 | A | ATCAATTT others(34): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 | 1 | 324 | 0.0031 | 41 | c.194 others(58): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0211 | 1 | 106 | 0.0094 | 41 | c.46- others(56): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 91674646 | T | TATATACG others(34): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0002g0036 others(1): Show |
4 | 40 | 0.1000 | 41 | c.326 others(60): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
GPR139_chr16_20023239_20078890 | 20041251 | G | GAGAGGAG others(34): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 275 | 0.0036 | 41 | c.128 others(58): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
GPR157_chr1_9095305_9134102 | 9123559 | A | ATTTAAAT others(34): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0162 | 1 | 402 | 0.0025 | 41 | c.383 others(58): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GPR158_chr10_25170001_25607229 | 25241262 | T | TCTTTCCT others(34): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0076 | 1 | 142 | 0.0070 | 41 | c.100 others(62): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR171_chr3_151192832_151208216 | 151206787 | G | GTTCAACG others(34): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 1 | 448 | 0.0022 | 41 | c.-38 others(52): Show |
GPR171 | ENSG00000174946.7 | transcript | ENST00000309180.6 | protein_coding | 3572 | chr3 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53061991 | A | AGGGAAGA others(34): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03130.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0002a0001c0003t0040 | a0001c0001t0017g0192 a0001c0001t0017g0199 a0001c0003t0002g0030 others(1): Show |
4 | 124 | 0.0323 | 41 | c.-98 others(60): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | chrX | TogoVar | |||||||
GPR4_chr19_45584764_45607212 | 45594076 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0180 | 1 | 445 | 0.0022 | 41 | c.-83 others(60): Show |
GPR4 | ENSG00000177464.5 | transcript | ENST00000323040.5 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
GPR4_chr19_45584764_45607212 | 45594078 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0002g0185 a0001c0001t0006g0206 a0001c0001t0006g0207 others(2): Show |
5 | 248 | 0.0202 | 41 | c.-83 others(60): Show |
GPR4 | ENSG00000177464.5 | transcript | ENST00000323040.5 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
GPRC5C_chr17_74427088_74452429 | 74449122 | A | AGGGAGAG others(34): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102 a0001c0001t0002g0045 a0001c0001t0002g0199 others(1): Show |
5 | 336 | 0.0149 | 41 | c.*20 others(52): Show |
GPRC5C | ENSG00000170412.18 | transcript | ENST00000392627.7 | protein_coding | 1694 | chr17 | TogoVar | |||||||
GPSM1_chr9_136322539_136364601 | 136355276 | G | GGGTGACA others(34): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0117 | 1 | 398 | 0.0025 | 41 | c.145 others(58): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPSM1_chr9_136322539_136364601 | 136355294 | G | GAGGGGTA others(34): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0236 | 1 | 398 | 0.0025 | 41 | c.145 others(58): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPSM1_chr9_136322539_136364601 | 136355378 | G | GAGGGGTA others(34): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02572.hp1 HG02922.hp1 others(4): Show |
a0001a0002 | a0001c0006a0002c0004 | a0001c0006t0001a0002c0004t0001 | a0001c0006t0001g0073 a0002c0004t0001g0029 a0002c0004t0001g0030 others(2): Show |
7 | 168 | 0.0417 | 41 | c.145 others(58): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPSM1_chr9_136322539_136364601 | 136355402 | G | GGGTGACA others(34): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0117 | 1 | 391 | 0.0026 | 41 | c.145 others(58): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPX5_chr6_28520881_28539955 | 28522303 | G | GTATGTAT others(34): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 410 | 0.0024 | 41 | c.-37 others(52): Show |
GPX5 | ENSG00000224586.7 | transcript | ENST00000412168.7 | protein_coding | 3577 | chr6 | TogoVar | |||||||
GRAMD1C_chr3_113833788_113952174 | 113894337 | G | GGCATGAT others(34): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 322 | 0.0031 | 41 | c.541 others(58): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRAMD1C_chr3_113833788_113952174 | 113911696 | T | TTTCCTTC others(34): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0006 | a0006c0008 | a0006c0008t0023 | a0006c0008t0023g0130 | 1 | 92 | 0.0109 | 41 | c.952 others(58): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRAMD1C_chr3_113833788_113952174 | 113911696 | T | TTTCCTTC others(34): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0223 | 1 | 92 | 0.0109 | 41 | c.952 others(58): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRAMD1C_chr3_113833788_113952174 | 113911696 | T | TTTCCTTC others(34): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00639.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0180 others(11): Show |
14 | 105 | 0.1333 | 41 | c.952 others(58): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRIA2_chr4_157215728_157371075 | 157256160 | T | TATATATG others(34): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 a0001c0001t0003g0092 |
2 | 216 | 0.0093 | 41 | c.229 others(60): Show |
GRIA2 | ENSG00000120251.22 | transcript | ENST00000264426.14 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIA3_chrX_123179278_123495915 | 123260487 | A | AGGAAGGA others(34): Show |
intron_variant | MODIFIER | HG03831.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0194 a0001c0001t0010g0109 |
2 | 37 | 0.0541 | 41 | c.508 others(58): Show |
GRIA3 | ENSG00000125675.20 | transcript | ENST00000620443.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRID1_chr10_85594552_86371795 | 85599802 | A | AAAAAAAT others(34): Show |
3_prime_UTR_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0049 | a0001c0004t0049g0082 | 1 | 18 | 0.0556 | 41 | c.*24 others(52): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 16/16 | 2470 | chr10 | TogoVar | ||||||
GRID1_chr10_85594552_86371795 | 85599802 | A | AAATATAT others(34): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0005 | a0002c0005t0022 | a0002c0005t0022g0078 | 1 | 18 | 0.0556 | 41 | c.*24 others(52): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 16/16 | 2470 | chr10 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 93724480 | A | AAATATGC others(34): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 34 | 0.0294 | 41 | c.236 others(62): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIK1_chr21_29531933_29944996 | 29848779 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 18 | 0.0556 | 41 | c.118 others(60): Show |
GRIK1 | ENSG00000171189.18 | transcript | ENST00000327783.9 | protein_coding | 1/17 | chr21 | TogoVar | |||||||
GRIK1_chr21_29531933_29944996 | 29888161 | T | TCTTTCTT others(34): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0039 | 1 | 99 | 0.0101 | 41 | c.118 others(60): Show |
GRIK1 | ENSG00000171189.18 | transcript | ENST00000327783.9 | protein_coding | 1/17 | chr21 | TogoVar | |||||||
GRIN2B_chr12_13532337_13986602 | 13607376 | A | AAATATAT others(34): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0007 | a0001c0007t0046 | a0001c0007t0046g0038 | 1 | 175 | 0.0057 | 41 | c.201 others(60): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 10/13 | chr12 | TogoVar | |||||||
GRM3_chr7_86638909_86869879 | 86864081 | A | ATAGATGG others(34): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0005g0073 |
3 | 214 | 0.0140 | 41 | c.256 others(58): Show |
GRM3 | ENSG00000198822.11 | transcript | ENST00000361669.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
GRSF1_chr4_70810783_70844890 | 70840065 | C | CTGCCCAT others(34): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 326 | 0.0031 | 41 | c.-23 others(50): Show |
GRSF1 | ENSG00000132463.15 | transcript | ENST00000254799.11 | protein_coding | 176 | chr4 | TogoVar | |||||||
GSK3B_chr3_119816321_120099447 | 120083021 | T | TCACTTAA others(34): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0037 | a0001c0001t0014g0027 a0001c0001t0037g0026 |
2 | 298 | 0.0067 | 41 | c.88+ others(58): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144136395 | A | AAAAGGAA others(34): Show |
intron_variant | MODIFIER | HG00140.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0111 |
2 | 20 | 0.1000 | 41 | c.521 others(58): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTF2I_chr7_74652718_74765692 | 74680099 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 123 | 0.0081 | 41 | c.-5- others(56): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTPBP10_chr7_90341716_90396453 | 90391692 | A | AACCCCCC others(34): Show |
downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0003 | 1 | 388 | 0.0026 | 41 | c.*65 others(52): Show |
GTPBP10 | ENSG00000105793.16 | transcript | ENST00000222511.11 | protein_coding | 240 | chr7 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(34): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0033 a0001c0001t0010g0034 |
2 | 100 | 0.0200 | 41 | c.199 others(62): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar |