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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(851): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 280 | 0.0036 | 858 | c.641 others(873): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(851): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 280 | 0.0036 | 858 | c.641 others(873): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(851): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(35): Show |
a0001a0005a0016others(1): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0057others(27): Show | 38 | 280 | 0.1357 | 858 | c.641 others(873): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(851): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 280 | 0.0036 | 858 | c.641 others(873): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370338 | G | GCTACCCC others(851): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0061 | 1 | 394 | 0.0025 | 858 | c.-7- others(871): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(851): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0098 | 1 | 330 | 0.0030 | 858 | c.-5+ others(873): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949198 | C | CCCCCCTG others(851): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 242 | 0.0041 | 858 | c.360 others(877): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924094 | T | TGAACACT others(851): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109a0001c0001t0002g0110 | 2 | 292 | 0.0069 | 858 | c.718 others(875): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924311 | C | CGTGGATA others(851): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18998.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0178a0003c0005t0001g0177 | 2 | 292 | 0.0069 | 858 | c.718 others(875): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924580 | A | ATAGAAAC others(851): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0281a0001c0001t0011g0282 | 2 | 292 | 0.0069 | 858 | c.718 others(875): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(851): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00673.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0123a0001c0001t0001g0129a0001c0001t0001g0132others(20): Show | 23 | 292 | 0.0788 | 858 | c.718 others(875): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(851): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03225.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0193a0001c0001t0001g0194 | 3 | 292 | 0.0103 | 858 | c.718 others(875): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924689 | G | GAACACCG others(851): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 292 | 0.0034 | 858 | c.718 others(875): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924959 | C | CGGGAACA others(851): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 292 | 0.0034 | 858 | c.718 others(875): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924976 | G | GTAGAAAC others(851): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223a0001c0001t0002g0235a0001c0001t0002g0264others(1): Show | 4 | 292 | 0.0137 | 858 | c.718 others(875): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45925128 | A | ATCGGGTG others(851): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0086 | 1 | 292 | 0.0034 | 858 | c.718 others(875): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTACCCC others(851): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0005 | a0002c0005t0013 | a0002c0005t0013g0024 | 1 | 376 | 0.0027 | 858 | c.*16 others(869): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458528 | G | GTTCAGTG others(851): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0087 | 1 | 295 | 0.0034 | 858 | c.715 others(875): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 218312 | C | CCCAAGGC others(851): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(15): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0030a0001c0001t0001g0047a0001c0001t0001g0110others(15): Show | 18 | 133 | 0.1353 | 858 | c.727 others(875): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 218466 | C | CGCTGAAA others(851): Show |
intron_variant | MODIFIER | NA18999.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0011a0001c0001t0019g0012 | 2 | 133 | 0.0150 | 858 | c.727 others(875): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 355823 | A | AACAGTCG others(851): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0112 | 1 | 133 | 0.0075 | 858 | c.-33 others(869): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3017 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356532 | T | CCACAGGC others(851): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 133 | 0.0075 | 858 | c.-40 others(869): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3725 | chr17 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3177895 | C | CTCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 858 | c.-89 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 873 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178012 | A | ATCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 858 | c.-78 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 756 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01361.hp1 HG02148.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000a0001c0001t0003g0000 | 7 | 418 | 0.0168 | 858 | c.-74 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 NA18971.hp1 NA18972.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 418 | 0.0191 | 858 | c.-74 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02040.hp1 HG02056.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0000a0002c0004t0001g0000 | 23 | 418 | 0.0550 | 858 | c.-74 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG03831.hp1 HG04199.hp2 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0022t0001 | a0001c0001t0001g0000a0001c0022t0001g0000 | 3 | 418 | 0.0072 | 858 | c.-74 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 418 | 0.0048 | 858 | c.-74 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 858 | c.-74 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 418 | 0.0048 | 858 | c.-74 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178051 | A | ATCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 858 | c.-74 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 717 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3178129 | C | CTCGGGCT others(851): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 418 | 0.0048 | 858 | c.-66 others(867): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 639 | chr19 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159680730 | A | AATATACA others(851): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 100 | 0.0100 | 858 | c.64- others(875): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1290009 | C | CCTGCTCC others(851): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 290 | 0.0035 | 858 | c.166 others(875): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4264470 | G | GAGGCCGC others(851): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0102 | 1 | 116 | 0.0086 | 858 | c.638 others(875): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
THAP4_chr2_241579405_241642158 | 241590826 | G | GCAGAGCT others(851): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0160 | 1 | 390 | 0.0026 | 858 | c.161 others(877): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590826 | G | GCAGAGCT others(851): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0213others(4): Show | 7 | 390 | 0.0180 | 858 | c.161 others(877): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590856 | C | CTAGGACA others(851): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205 | 1 | 390 | 0.0026 | 858 | c.161 others(877): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(851): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0046 | 1 | 314 | 0.0032 | 858 | c.189 others(873): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
TRIM28_chr19_58539064_58555715 | 58539213 | C | CCACACAC others(851): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 402 | 0.0025 | 858 | c.-55 others(869): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4850 | chr19 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142272646 | A | ACGCCTTC others(851): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02896.hp1 others(3): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0001a0005c0005t0001a0005c0005t0002others(2): Show | a0001c0001t0001g0057a0001c0001t0001g0062a0005c0005t0001g0146others(3): Show | 6 | 238 | 0.0252 | 858 | c.144 others(877): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(851): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 338 | 0.0030 | 858 | c.*35 others(877): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(851): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01071.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0170a0001c0001t0001g0196others(12): Show | 16 | 338 | 0.0473 | 858 | c.*35 others(877): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(851): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 338 | 0.0030 | 858 | c.*35 others(877): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(851): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 338 | 0.0030 | 858 | c.*35 others(877): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(851): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0146 | 1 | 324 | 0.0031 | 858 | c.*61 others(869): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | ||||||
ZNF862_chr7_149833375_149872479 | 149858875 | A | ATGGGCCA others(851): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 412 | 0.0024 | 858 | c.111 others(875): Show |
ZNF862 | ENSG00000106479.11 | transcript | ENST00000223210.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(852): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0007 | a0007c0009 | a0007c0009t0011 | a0007c0009t0011g0173 | 1 | 262 | 0.0038 | 859 | c.106 others(878): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(852): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0259 | 1 | 336 | 0.0030 | 859 | c.94+ others(874): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar |