| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYCBP2_chr13_77039657_77332094 | 77174910 | T | TAATATAT others(232): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039a0001c0002t0001g0040 | 2 | 334 | 0.0060 | 239 | c.547 others(256): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 36/82 | chr13 | TogoVar | ||||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(232): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0285 | 1 | 384 | 0.0026 | 239 | c.160 others(256): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169771266 | A | ATATAAAA others(232): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 350 | 0.0029 | 239 | c.-22 others(250): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2129 | chr3 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(232): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 384 | 0.0026 | 239 | c.-41 others(250): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(232): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 384 | 0.0026 | 239 | c.-41 others(250): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806532 | A | ACCCTCCC others(232): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0032 | 1 | 319 | 0.0031 | 239 | c.-27 others(250): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2660 | chr2 | TogoVar | ||||||
| NEXN_chr1_77883624_77948895 | 77887912 | T | TTTCTTCT others(232): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 268 | 0.0037 | 239 | c.-90 others(248): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 711 | chr1 | TogoVar | ||||||
| NFATC2_chr20_51381963_51547719 | 51500818 | A | ACCACCCC others(232): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0015a0001c0002t0005 | a0001c0001t0008g0232a0001c0001t0015g0203a0001c0002t0005g0231 | 3 | 316 | 0.0095 | 239 | c.133 others(260): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | ||||||
| NFATC2_chr20_51381963_51547719 | 51500818 | A | ACCACCCC others(232): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(169): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0044a0001c0001t0001g0065a0001c0001t0001g0077others(169): Show | 172 | 316 | 0.5443 | 239 | c.133 others(260): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | ||||||
| NFATC2_chr20_51381963_51547719 | 51500818 | A | ACCACCCC others(232): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02970.hp2 HG03540.hp1 others(1): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0017 | a0001c0001t0023a0001c0001t0025a0001c0003t0025others(1): Show | a0001c0001t0023g0251a0001c0001t0025g0220a0001c0003t0025g0309others(1): Show | 4 | 316 | 0.0127 | 239 | c.133 others(260): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | ||||||
| NFATC2_chr20_51381963_51547719 | 51500819 | C | CCACCCCC others(232): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02602.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0082a0001c0001t0001g0295a0001c0001t0002g0107 | 3 | 316 | 0.0095 | 239 | c.133 others(260): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | ||||||
| NR3C2_chr4_148073764_148447414 | 148366441 | T | TAAAAGTA others(232): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0008 | a0008c0011 | a0008c0011t0006 | a0008c0011t0006g0106 | 1 | 170 | 0.0059 | 239 | c.175 others(260): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
| NTSR1_chr20_62703836_62767771 | 62755590 | C | CTCCATCA others(232): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02148.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0008t0016 | a0001c0001t0005g0013a0001c0001t0005g0082a0001c0001t0005g0185others(8): Show | 12 | 316 | 0.0380 | 239 | c.916 others(254): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NTSR1_chr20_62703836_62767771 | 62755590 | C | CTCCATCA others(232): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02622.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0017a0001c0003t0023 | a0001c0001t0005g0256a0001c0003t0017g0223a0001c0003t0017g0224others(1): Show | 4 | 316 | 0.0127 | 239 | c.916 others(254): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| OPTC_chr1_203489153_203513949 | 203500135 | A | ACCACCAC others(232): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0048 | 1 | 406 | 0.0025 | 239 | c.732 others(254): Show |
OPTC | ENSG00000188770.10 | transcript | ENST00000367222.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| OR1S2_chr11_58198204_58209142 | 58199861 | T | TGAAAATG others(232): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 HG03239.hp1 |
a0001 | a0001c0002 | a0001c0002t0000 | a0001c0002t0000g0000 | 2 | 426 | 0.0047 | 239 | c.*33 others(250): Show |
OR1S2 | ENSG00000197887.6 | transcript | ENST00000641683.2 | protein_coding | 3342 | chr11 | TogoVar | ||||||
| OR2T12_chr1_248285139_248308424 | 248306763 | G | GCCTGAGG others(232): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0016 | a0016c0018 | a0016c0018t0015 | a0016c0018t0015g0059 | 1 | 406 | 0.0025 | 239 | c.-36 others(250): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3340 | chr1 | TogoVar | ||||||
| OR2T12_chr1_248285139_248308424 | 248306898 | C | CCCCTGAG others(232): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01981.hp2 HG02897.hp1 others(7): Show |
a0004a0006a0007others(1): Show | a0004c0004a0006c0006a0007c0007others(1): Show | a0004c0004t0004a0006c0006t0004a0007c0007t0004others(1): Show | a0004c0004t0004g0023a0006c0006t0004g0024a0006c0006t0004g0028others(2): Show | 10 | 406 | 0.0246 | 239 | c.-37 others(250): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3475 | chr1 | TogoVar | ||||||
| OR2T12_chr1_248285139_248308424 | 248306898 | C | CCCCTGAG others(232): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG03209.hp1 NA20300.hp1 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0013a0004c0004t0006g0115 | 3 | 406 | 0.0074 | 239 | c.-37 others(250): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3475 | chr1 | TogoVar | ||||||
| OR2T12_chr1_248285139_248308424 | 248306898 | C | CGCCTGAG others(232): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 406 | 0.0025 | 239 | c.-37 others(250): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3475 | chr1 | TogoVar | ||||||
| OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(232): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 227 | 0.0044 | 239 | c.-55 others(254): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| OR52E6_chr11_5835928_5846897 | 5844253 | T | TTATATTA others(232): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 NA18962.hp2 NA18965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 450 | 0.0133 | 239 | c.-23 others(250): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(232): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 302 | 0.0033 | 239 | c.155 others(256): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(232): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 302 | 0.0033 | 239 | c.155 others(256): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(232): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 302 | 0.0033 | 239 | c.155 others(256): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PALD1_chr10_70473767_70573450 | 70554954 | C | CCCCTCCC others(232): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0155 | 1 | 308 | 0.0033 | 239 | c.226 others(258): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PCDH15_chr10_53797771_54806231 | 54332245 | T | TATATAAT others(232): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01934.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(5): Show | a0001c0001t0001g0044a0001c0001t0003g0015a0002c0002t0002g0037others(6): Show | 9 | 102 | 0.0882 | 239 | c.595 others(256): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54332245 | T | TATATAAT others(232): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01934.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0041a0002c0002t0001g0034others(6): Show | 9 | 94 | 0.0957 | 239 | c.595 others(256): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(232): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0089 | 1 | 336 | 0.0030 | 239 | c.-37 others(250): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(232): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0082 | 1 | 336 | 0.0030 | 239 | c.-37 others(250): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(232): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG01256.hp2 others(22): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0013others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0013t0001others(8): Show | a0001c0001t0001g0042a0001c0001t0001g0064a0001c0004t0001g0112others(22): Show | 25 | 206 | 0.1214 | 239 | c.844 others(258): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(232): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02723.hp2 others(2): Show |
a0002a0005 | a0002c0024a0005c0008 | a0002c0024t0002a0005c0008t0001 | a0002c0024t0002g0133a0002c0024t0002g0134a0005c0008t0001g0012others(2): Show | 5 | 206 | 0.0243 | 239 | c.844 others(258): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(232): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 206 | 0.0049 | 239 | c.844 others(258): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(232): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0017 | a0017c0053 | a0017c0053t0001 | a0017c0053t0001g0145 | 1 | 206 | 0.0049 | 239 | c.844 others(258): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(232): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 206 | 0.0049 | 239 | c.844 others(258): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC others(232): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 358 | 0.0028 | 239 | c.*44 others(250): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
| PHF14_chr7_10968872_11174618 | 10992040 | T | TAGCTTCT others(232): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 298 | 0.0034 | 239 | c.104 others(258): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401948 | G | GGCCCCGC others(232): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0214 | 1 | 216 | 0.0046 | 239 | c.173 others(258): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 402552 | G | GACCCGCT others(232): Show |
intron_variant | MODIFIER | HG03688.hp2 NA19079.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0089a0001c0004t0001g0094 | 2 | 216 | 0.0093 | 239 | c.173 others(256): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLD4_chr14_104919879_104938236 | 104933637 | C | CGGGGAGG others(232): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 426 | 0.0024 | 239 | c.*67 others(248): Show |
PLD4 | ENSG00000166428.14 | transcript | ENST00000392593.9 | protein_coding | 402 | chr14 | TogoVar | ||||||
| PLPPR3_chr19_807488_826955 | 816318 | T | TGTCCATC others(232): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 398 | 0.0025 | 239 | c.76- others(252): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 2/7 | chr19 | TogoVar | ||||||
| PLPPR3_chr19_807488_826955 | 816328 | T | TCCACCCA others(232): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18942.hp1 NA18947.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0016a0001c0002t0001g0042a0001c0002t0001g0147others(2): Show | 9 | 398 | 0.0226 | 239 | c.76- others(252): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 2/7 | chr19 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137504024 | A | AGAAGTAT others(232): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0173 | 1 | 188 | 0.0053 | 239 | c.147 others(258): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PPM1L_chr3_160751231_161083902 | 160945047 | T | TATATAAC others(232): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0187 | 1 | 206 | 0.0049 | 239 | c.400 others(258): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(232): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0096a0001c0001t0001g0158a0001c0001t0001g0161others(45): Show | 48 | 210 | 0.2286 | 239 | c.38- others(254): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(232): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18939.hp2 |
a0001a0009 | a0001c0002a0009c0028 | a0001c0002t0002a0009c0028t0015 | a0001c0002t0002g0169a0009c0028t0015g0209 | 2 | 210 | 0.0095 | 239 | c.38- others(254): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(232): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0073 | a0001c0001t0001g0029a0001c0004t0073g0143 | 2 | 210 | 0.0095 | 239 | c.38- others(254): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(232): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0027 | 1 | 210 | 0.0048 | 239 | c.38- others(254): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKN_chr6_161342417_162732766 | 162011198 | T | TATATATA others(232): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02976.hp2 HG03041.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0003 | a0001c0001t0002g0005a0001c0001t0002g0007a0003c0006t0003g0004 | 3 | 32 | 0.0938 | 239 | c.619 others(258): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
| PTBP1_chr19_792452_817312 | 816318 | T | TGTCCATC others(232): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0112 | 1 | 388 | 0.0026 | 239 | c.*54 others(250): Show |
PTBP1 | ENSG00000011304.22 | transcript | ENST00000356948.11 | protein_coding | 4007 | chr19 | TogoVar |