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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(821): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 400 | 0.0025 | 828 | c.102 others(843): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180634874 | G | GTGGGTGG others(821): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0223 | 1 | 388 | 0.0026 | 828 | c.59- others(843): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586258 | G | GGGGGAAA others(821): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0149 | 1 | 308 | 0.0033 | 828 | c.157 others(843): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXP1_chr3_70949708_71588728 | 71435248 | A | AAGGAAGG others(821): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0030 | 1 | 96 | 0.0104 | 828 | c.-16 others(849): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46635194 | C | CCCCCACC others(821): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 328 | 0.0031 | 828 | c.163 others(845): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GRAMD4_chr22_46615386_46684785 | 46635509 | C | CTCCCTGC others(821): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0189 | 1 | 328 | 0.0031 | 828 | c.163 others(845): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
IFFO2_chr1_18899280_18961676 | 18925812 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0173a0001c0001t0006g0175 | 2 | 376 | 0.0053 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925812 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0166 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925812 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0187 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0184 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0276 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0066 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0172 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0054 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925861 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 376 | 0.0027 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322587 | A | ATGGAATA others(821): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0237 | 1 | 323 | 0.0031 | 828 | c.-24 others(839): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2382 | chr21 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599452 | G | GCCGTCCG others(821): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0009 | a0009c0011 | a0009c0011t0003 | a0009c0011t0003g0043 | 1 | 334 | 0.0030 | 828 | c.369 others(845): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(821): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02630.hp1 HG02970.hp2 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0001c0001t0007a0008c0011t0025 | a0001c0001t0001g0147a0001c0001t0007g0062a0008c0011t0025g0318 | 3 | 440 | 0.0068 | 828 | c.103 others(845): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(821): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0031 | 1 | 114 | 0.0088 | 828 | c.55+ others(847): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(821): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 828 | c.-27 others(839): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 954024 | C | CCAAACCA others(821): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0284 | 1 | 294 | 0.0034 | 828 | c.503 others(843): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(821): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0001 | 1 | 422 | 0.0024 | 828 | c.-29 others(839): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(821): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 290 | 0.0035 | 828 | c.129 others(847): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(821): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01081.hp1 others(9): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0016a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0047a0001c0001t0001g0069a0001c0001t0002g0240others(9): Show | 12 | 276 | 0.0435 | 828 | c.100 others(847): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(821): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0093a0001c0001t0004g0118 | 2 | 276 | 0.0073 | 828 | c.100 others(847): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(821): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 276 | 0.0036 | 828 | c.100 others(847): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876946 | T | TGGAGGTT others(821): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0186 | 1 | 274 | 0.0037 | 828 | c.224 others(847): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877171 | G | GGGAGGTT others(821): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0194 | 1 | 274 | 0.0037 | 828 | c.224 others(847): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877256 | G | GATTATGG others(821): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0109 | 1 | 274 | 0.0037 | 828 | c.224 others(847): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(821): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210a0001c0001t0001g0211 | 2 | 394 | 0.0051 | 828 | c.315 others(845): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(821): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0026 | a0026c0030 | a0026c0030t0001 | a0026c0030t0001g0129 | 1 | 388 | 0.0026 | 828 | c.159 others(845): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(821): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0162 | 1 | 330 | 0.0030 | 828 | c.-5+ others(843): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(821): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014 | a0001c0001t0001g0269a0001c0001t0004g0268a0001c0001t0014g0267 | 3 | 330 | 0.0091 | 828 | c.-5+ others(843): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NOS3_chr7_150986017_151019588 | 150995593 | C | CCCCCATC others(821): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141 | 1 | 382 | 0.0026 | 828 | c.270 others(843): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136535562 | G | GGTGGGTC others(821): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0046 | 1 | 324 | 0.0031 | 828 | c.140 others(845): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535783 | A | AGGGGAGC others(821): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 324 | 0.0031 | 828 | c.140 others(845): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(821): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 402 | 0.0025 | 828 | c.-40 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(821): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 402 | 0.0025 | 828 | c.-40 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(821): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0065 | 3 | 402 | 0.0075 | 828 | c.-42 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(821): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0066 | 2 | 402 | 0.0050 | 828 | c.-42 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050236 | G | GCCCCTAC others(821): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 402 | 0.0025 | 828 | c.-42 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4060 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(821): Show |
upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 402 | 0.0025 | 828 | c.-42 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(821): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 828 | c.-26 others(839): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(821): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136 | 1 | 360 | 0.0028 | 828 | c.*35 others(839): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585208 | T | TGCCCTTT others(821): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01256.hp2 HG01258.hp2 others(3): Show |
a0002a0010 | a0002c0002a0010c0015 | a0002c0002t0001a0010c0015t0001 | a0002c0002t0001g0072a0002c0002t0001g0104a0002c0002t0001g0255others(2): Show | 6 | 279 | 0.0215 | 828 | c.215 others(845): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585382 | T | TTGAGGTA others(821): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 279 | 0.0036 | 828 | c.215 others(845): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585405 | T | TTGAGGTA others(821): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02040.hp2 HG02074.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134a0002c0002t0001g0135a0002c0002t0001g0189others(5): Show | 8 | 279 | 0.0287 | 828 | c.215 others(845): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |