| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COL19A1_chr6_69861556_70217468 | 69920995 | T | TATGTATA others(489): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 178 | 0.0056 | 496 | c.267 others(513): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(489): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0091 | a0002c0091t0002 | a0002c0091t0002g0114 | 1 | 16 | 0.0625 | 496 | c.416 others(517): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(489): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0031 | a0002c0031t0015 | a0002c0031t0015g0001 | 1 | 16 | 0.0625 | 496 | c.416 others(517): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| CXorf51A_chrX_146809106_146819744 | 146812295 | G | GTGTACAT others(489): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02615.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 248 | 0.0121 | 496 | c.*19 others(507): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1810 | chrX | TogoVar | |||||||
| CXorf51B_chrX_146804771_146815411 | 146812295 | G | GTGTACAT others(489): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02615.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 250 | 0.0120 | 496 | c.*19 others(507): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1885 | chrX | TogoVar | |||||||
| DEAF1_chr11_639233_700222 | 665021 | G | GAGTCCTG others(489): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03195.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207 a0001c0002t0001g0254 a0001c0002t0001g0305 |
3 | 282 | 0.0106 | 496 | c.150 others(515): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(489): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 279 | 0.0036 | 496 | c.-42 others(507): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(489): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 279 | 0.0036 | 496 | c.-42 others(507): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(489): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 279 | 0.0036 | 496 | c.-42 others(507): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 516698 | G | GGTAAGGT others(489): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0020 | 1 | 86 | 0.0116 | 496 | c.86- others(513): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
| DNAH14_chr1_224924675_225404286 | 225335771 | A | ACACATAT others(489): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0082 | a0005c0082t0001 | a0005c0082t0001g0023 | 1 | 238 | 0.0042 | 496 | c.100 others(517): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | chr1 | TogoVar | |||||||
| EXOC2_chr6_480154_698139 | 519126 | C | CCACCGAG others(489): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0129 | 1 | 267 | 0.0037 | 496 | c.238 others(517): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
| FAM240C_chr2_241888988_241905464 | 241896810 | T | TGTTGGGG others(489): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 10 | 0.1000 | 496 | c.161 others(511): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
| FAM240C_chr2_241888988_241905464 | 241896810 | T | TGTTGGGG others(489): Show |
intron_variant | MODIFIER | HG00733.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0034 |
2 | 11 | 0.1818 | 496 | c.161 others(511): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
| FAM240C_chr2_241888988_241905464 | 241896810 | T | TGTTGGGG others(489): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 10 | 0.1000 | 496 | c.161 others(511): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
| GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(489): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 130 | 0.0077 | 496 | c.240 others(515): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805448 | C | CCCCCCTC others(489): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0036 | 1 | 306 | 0.0033 | 496 | c.*12 others(507): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1162 | chr2 | TogoVar | |||||||
| GALP_chr19_56171008_56190775 | 56176906 | A | ACTCCCCC others(489): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0003 | a0001c0002t0003g0021 a0001c0002t0003g0302 a0002c0003t0003g0066 |
5 | 359 | 0.0139 | 496 | c.-39 others(511): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
| GALP_chr19_56171008_56190775 | 56176906 | A | ATTCCCCC others(489): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0093 | 1 | 355 | 0.0028 | 496 | c.-39 others(511): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777656 | T | TCATCACA others(489): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0006 | 1 | 377 | 0.0027 | 496 | c.-41 others(507): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3557 | chr1 | TogoVar | |||||||
| GMDS_chr6_1618806_2250605 | 1898039 | C | CCCTGGCC others(489): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0002g0092 |
2 | 88 | 0.0227 | 496 | c.771 others(515): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
| GNA15_chr19_3131033_3168749 | 3145577 | T | TCTCACTC others(489): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01515.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0007t0010others(4): Show | a0001c0001t0001g0136 a0001c0001t0001g0232 a0001c0001t0001g0271 others(10): Show |
13 | 100 | 0.1300 | 496 | c.146 others(513): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| GNG13_chr16_793041_805734 | 795445 | C | CCCCCTGT others(489): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 | 1 | 333 | 0.0030 | 496 | c.*32 others(507): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2595 | chr16 | TogoVar | |||||||
| GPR173_chrX_53043789_53085615 | 53074113 | T | TGTATATA others(489): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 203 | 0.0049 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | chrX | TogoVar | |||||||
| GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(489): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00741.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(40): Show |
45 | 114 | 0.3947 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(489): Show |
intron_variant | MODIFIER | HG01346.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0082 a0001c0001t0003g0124 |
2 | 71 | 0.0282 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(489): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 70 | 0.0143 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074119 | T | TATAAATA others(489): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0133 | 1 | 175 | 0.0057 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074119 | T | TATAAATA others(489): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01192.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0029 a0001c0001t0001g0086 a0001c0001t0001g0112 others(2): Show |
5 | 179 | 0.0279 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074119 | T | TATAAATA others(489): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0006 | a0001c0006t0020 | a0001c0006t0020g0177 | 1 | 175 | 0.0057 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074119 | T | TATAAATA others(489): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0081 | 1 | 175 | 0.0057 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074119 | T | TATAAATA others(489): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0136 others(1): Show |
4 | 178 | 0.0225 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074119 | T | TATAAATA others(489): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 175 | 0.0057 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074119 | T | TATAAATA others(489): Show |
intron_variant | MODIFIER | HG01081.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0180 a0001c0001t0008g0181 |
2 | 176 | 0.0114 | 496 | c.-97 others(513): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643151 | C | CCATCCAT others(489): Show |
intron_variant | MODIFIER | HG03130.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0042 |
2 | 297 | 0.0067 | 496 | c.283 others(513): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(489): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0219 | 1 | 122 | 0.0082 | 496 | c.283 others(513): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(489): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02135.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0128 others(1): Show |
4 | 125 | 0.0320 | 496 | c.283 others(513): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(489): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0222 | 1 | 122 | 0.0082 | 496 | c.283 others(513): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(489): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0029others(1): Show | a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 others(3): Show |
6 | 127 | 0.0472 | 496 | c.283 others(513): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(489): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02818.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0049 | a0001c0001t0005g0001 a0001c0001t0005g0056 a0001c0001t0005g0057 others(1): Show |
5 | 126 | 0.0397 | 496 | c.283 others(513): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(489): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 122 | 0.0082 | 496 | c.283 others(513): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(489): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00738.hp1 others(23): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0309 others(23): Show |
26 | 147 | 0.1769 | 496 | c.283 others(513): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(489): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 122 | 0.0082 | 496 | c.283 others(513): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106709791 | A | ATTATATA others(489): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0028 | 1 | 246 | 0.0041 | 496 | c.183 others(515): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
| IFFO2_chr1_18899280_18961676 | 18925787 | T | TTGGATGG others(489): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0076 | 1 | 374 | 0.0027 | 496 | c.666 others(513): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(489): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 13 | 0.0769 | 496 | c.-79 others(505): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
| ITGB1BP1_chr2_9398475_9428528 | 9406454 | T | TCTTCCTC others(489): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0128 | 1 | 244 | 0.0041 | 496 | c.*37 others(505): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 379 | chr2 | TogoVar | ||||||
| KCNN3_chr1_154692455_154875281 | 154755826 | A | AAGGAGGA others(489): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0041 | a0001c0004t0041g0078 | 1 | 218 | 0.0046 | 496 | c.144 others(517): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
| LHFPL3_chr7_104323603_104913561 | 104824192 | T | TATTATAT others(489): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 81 | 0.0123 | 496 | c.683 others(515): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
| LRP8_chr1_53237364_53333070 | 53283446 | C | CACTTACT others(489): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0004 | a0001c0004t0059 | a0001c0004t0059g0186 | 1 | 277 | 0.0036 | 496 | c.368 others(513): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar |