| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EIF3B_chr7_2349827_2385745 | 2377567 | T | TGTGTTCT others(633): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0058 | 1 | 384 | 0.0026 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2377637 | C | CTGTGAAT others(633): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0084 | 1 | 384 | 0.0026 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2377685 | C | CCTGGGAA others(633): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 384 | 0.0026 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2377693 | G | GCCGTGTT others(633): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 384 | 0.0026 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2378076 | T | TGTGTTGT others(633): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0325 | 1 | 384 | 0.0026 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EIPR1_chr2_3183970_3382818 | 3315172 | C | CCACCATC others(633): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247 | 1 | 250 | 0.0040 | 640 | c.259 others(659): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137328861 | G | GTCACACG others(633): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 82 | 0.0122 | 640 | c.199 others(659): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329218 | C | CTACACAG others(633): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 82 | 0.0122 | 640 | c.199 others(659): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(633): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028a0001c0001t0001g0065a0001c0002t0001g0014 | 12 | 456 | 0.0263 | 640 | c.*64 others(649): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | ||||||
| FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(633): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02809.hp1 others(13): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0005t0001a0001c0007t0001 | a0001c0001t0001g0001a0001c0005t0001g0008a0001c0005t0001g0037others(2): Show | 16 | 456 | 0.0351 | 640 | c.*64 others(649): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113824415 | C | CGCGCGGT others(633): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0100 | 1 | 143 | 0.0070 | 640 | c.147 others(657): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
| GET4_chr7_871554_901436 | 889783 | C | CCTGGGAG others(633): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0168 | 1 | 384 | 0.0026 | 640 | c.467 others(657): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GOLGA3_chr12_132763914_132833869 | 132793731 | G | GGGACCCG others(633): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0014 | a0014c0020 | a0014c0020t0019 | a0014c0020t0019g0003 | 1 | 308 | 0.0033 | 640 | c.246 others(659): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 11/23 | chr12 | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074115 | T | TATATATA others(633): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0052 | a0001c0003t0002g0031a0001c0003t0002g0038a0001c0003t0002g0040others(1): Show | 4 | 208 | 0.0192 | 640 | c.-97 others(657): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GPR173_chrX_53043789_53085615 | 53074425 | T | TATATATT others(633): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 208 | 0.0048 | 640 | c.-97 others(657): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GREB1_chr2_11529045_11647788 | 11618136 | C | CACTCCTG others(633): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0012 | a0002c0012t0024 | a0002c0012t0024g0127 | 1 | 308 | 0.0033 | 640 | c.341 others(655): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| IL17RA_chr22_17080000_17120693 | 17103923 | A | AGAGGGGA others(633): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01099.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0024a0002c0003t0050a0002c0003t0065others(2): Show | a0002c0003t0024g0178a0002c0003t0024g0179a0002c0003t0024g0324others(4): Show | 7 | 416 | 0.0168 | 640 | c.846 others(655): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| IL32_chr16_3060640_3074530 | 3066910 | C | CGGCCCAC others(633): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 458 | 0.0022 | 640 | c.16- others(653): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(633): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0209a0002c0002t0004g0144 | 2 | 310 | 0.0065 | 640 | c.199 others(657): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | ||||||
| INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(633): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(6): Show | a0001c0001t0001g0105a0001c0001t0002g0173a0001c0001t0002g0227others(12): Show | 15 | 310 | 0.0484 | 640 | c.199 others(657): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | ||||||
| INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(633): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0149a0001c0001t0009g0182a0001c0001t0009g0245others(1): Show | 4 | 310 | 0.0129 | 640 | c.199 others(657): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | ||||||
| INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(633): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp1 others(38): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0077a0001c0001t0001g0100a0001c0001t0001g0102others(38): Show | 41 | 310 | 0.1323 | 640 | c.199 others(657): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | ||||||
| IQSEC3_chr12_61767_183455 | 163304 | C | CCCTCCCT others(633): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0001 | a0002c0001t0050 | a0002c0001t0050g0051 | 1 | 282 | 0.0036 | 640 | c.258 others(657): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(633): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0013 | 1 | 386 | 0.0026 | 640 | c.-46 others(651): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(633): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012 | 2 | 386 | 0.0052 | 640 | c.-46 others(651): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364445 | A | ACACCCAC others(633): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 290 | 0.0035 | 640 | c.129 others(657): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MAP3K15_chrX_19355059_19520508 | 19478090 | G | GGGGGGGG others(633): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0125 | 1 | 163 | 0.0061 | 640 | c.525 others(657): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(633): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0012 | 1 | 272 | 0.0037 | 640 | c.250 others(655): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(633): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0281 | 1 | 364 | 0.0028 | 640 | c.394 others(655): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(633): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0282 | 1 | 364 | 0.0028 | 640 | c.394 others(655): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(633): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0274 | 1 | 364 | 0.0028 | 640 | c.394 others(655): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MUC4_chr3_195741771_195816929 | 195770954 | C | CGGGTTGG others(633): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0071 | a0071c0175 | a0071c0175t0005 | a0071c0175t0005g0227 | 1 | 249 | 0.0040 | 640 | c.132 others(659): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
| MYO7A_chr11_77123246_77220241 | 77192891 | A | AGTGATGG others(633): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0053 | a0005c0053t0001 | a0005c0053t0001g0250 | 1 | 356 | 0.0028 | 640 | c.415 others(657): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(633): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0008 | a0002c0008t0019 | a0002c0008t0019g0098 | 1 | 170 | 0.0059 | 640 | c.166 others(659): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MYT1L_chr2_1784113_2336275 | 2004243 | G | GTTCTTTC others(633): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0083 | 1 | 104 | 0.0096 | 640 | c.-15 others(659): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79532251 | C | CTGCAGCC others(633): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0006 | a0001c0006t0048 | a0001c0006t0048g0049 | 1 | 322 | 0.0031 | 640 | c.*46 others(651): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2929 | chr18 | TogoVar | ||||||
| NLRP4_chr19_55831540_55886855 | 55850164 | A | AATTTCCG others(633): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 424 | 0.0024 | 640 | c.-65 others(657): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP4_chr19_55831540_55886855 | 55850164 | A | AATTTCCG others(633): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0221 | 1 | 424 | 0.0024 | 640 | c.-65 others(657): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP4_chr19_55831540_55886855 | 55850164 | A | AATTTCCG others(633): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0033 | a0001c0033t0007 | a0001c0033t0007g0343 | 1 | 424 | 0.0024 | 640 | c.-65 others(657): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(633): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0236 | 1 | 244 | 0.0041 | 640 | c.342 others(659): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(633): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0019 | 1 | 242 | 0.0041 | 640 | c.360 others(659): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NYAP2_chr2_225394710_225708654 | 225574671 | T | TCATACTA others(633): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0188 | 1 | 192 | 0.0052 | 640 | c.524 others(657): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PCED1A_chr20_2830314_2845655 | 2842829 | T | TATAGATG others(633): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 640 | c.-26 others(651): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2175 | chr20 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(633): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 640 | c.-26 others(651): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(633): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 237 | 0.0042 | 640 | c.537 others(657): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(633): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 237 | 0.0042 | 640 | c.537 others(657): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(633): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 237 | 0.0042 | 640 | c.537 others(657): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(633): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 237 | 0.0042 | 640 | c.537 others(657): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | ||||||
| PITPNM3_chr17_6446263_6561555 | 6560549 | C | CAAGGGAG others(633): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0032 | 1 | 218 | 0.0046 | 640 | c.-41 others(651): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 3995 | chr17 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(633): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0013 | a0013c0067 | a0013c0067t0046 | a0013c0067t0046g0186 | 1 | 210 | 0.0048 | 640 | c.45+ others(651): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |