| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYO7A_chr11_77123246_77220241 | 77193091 | G | GGTGGAGG others(238): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02071.hp2 HG02132.hp1 others(1): Show |
a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0082a0003c0001t0001g0129a0003c0001t0001g0264others(1): Show | 4 | 356 | 0.0112 | 245 | c.415 others(262): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(238): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0149 | 1 | 384 | 0.0026 | 245 | c.-41 others(256): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
| NFILZ_chr19_8625633_8686151 | 8656482 | C | CAGCGCAC others(238): Show |
intron_variant | MODIFIER | NA18983.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0265a0001c0001t0048g0266 | 2 | 366 | 0.0055 | 245 | c.-16 others(266): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8656482 | C | CAGCGCAC others(238): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0352 | 1 | 366 | 0.0027 | 245 | c.-16 others(266): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8656482 | C | CAGCGCAC others(238): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0309 | 1 | 366 | 0.0027 | 245 | c.-16 others(266): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(238): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0178 | 1 | 440 | 0.0023 | 245 | c.319 others(260): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
| NSL1_chr1_212721153_212796777 | 212779700 | T | TGCCCGGC others(238): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18990.hp1 NA18993.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0123 | a0002c0002t0012g0275a0002c0002t0012g0276a0002c0002t0012g0279others(1): Show | 4 | 364 | 0.0110 | 245 | c.499 others(262): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
| NSUN2_chr5_6594239_6638044 | 6616678 | A | AAAAATTT others(238): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(280): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0041others(243): Show | 283 | 438 | 0.6461 | 245 | c.102 others(260): Show |
NSUN2 | ENSG00000037474.15 | transcript | ENST00000264670.11 | protein_coding | 9/18 | chr5 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949527 | G | GGCCTCCT others(238): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0164 | 1 | 242 | 0.0041 | 245 | c.360 others(264): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OBI1_chr13_78609289_78664155 | 78659300 | A | AGAAAGAA others(238): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 296 | 0.0034 | 245 | c.-18 others(254): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 146 | chr13 | TogoVar | ||||||
| OBI1_chr13_78609289_78664155 | 78659336 | G | GAAGAAAG others(238): Show |
upstream_gene_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 1 | 296 | 0.0034 | 245 | c.-21 others(254): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 182 | chr13 | TogoVar | ||||||
| OR13D1_chr9_104689518_104700462 | 104696107 | A | AGAAAGAA others(238): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0013 | a0013c0019 | a0013c0019t0000 | a0013c0019t0000g0000 | 1 | 396 | 0.0025 | 245 | c.*64 others(254): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 646 | chr9 | TogoVar | ||||||
| OR2T12_chr1_248285139_248308424 | 248306452 | C | CCCCTGAG others(238): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02148.hp1 HG02273.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0036 | 4 | 406 | 0.0099 | 245 | c.-32 others(256): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3029 | chr1 | TogoVar | ||||||
| OR2T12_chr1_248285139_248308424 | 248306452 | C | CCCCTGAG others(238): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG03139.hp2 |
a0025a0026 | a0025c0028a0026c0027 | a0025c0028t0039a0026c0027t0010 | a0025c0028t0039g0060a0026c0027t0010g0061 | 2 | 406 | 0.0049 | 245 | c.-32 others(256): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3029 | chr1 | TogoVar | ||||||
| OR52E6_chr11_5835928_5846897 | 5844253 | T | TTATATTA others(238): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 450 | 0.0022 | 245 | c.-23 others(256): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | ||||||
| OSBPL10_chr3_31655825_31986262 | 31812818 | G | GAAAGAAA others(238): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0165 | 1 | 186 | 0.0054 | 245 | c.729 others(264): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(238): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02970.hp2 HG03130.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249a0001c0001t0003g0254a0001c0001t0003g0255others(4): Show | 7 | 302 | 0.0232 | 245 | c.155 others(262): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(238): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271a0001c0001t0003g0272a0001c0001t0003g0273others(2): Show | 5 | 302 | 0.0166 | 245 | c.155 others(262): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(238): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 308 | 0.0033 | 245 | c.226 others(264): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168793366 | C | CATATATA others(238): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0122 | 1 | 156 | 0.0064 | 245 | c.196 others(266): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45927331 | T | TCCTCCCC others(238): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0109a0001c0001t0002g0110a0001c0001t0002g0231others(34): Show | 37 | 292 | 0.1267 | 245 | c.718 others(262): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 731703 | C | CCCTCCCG others(238): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0299 | 1 | 366 | 0.0027 | 245 | c.-10 others(260): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(238): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG02602.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0139a0001c0004t0001g0121 | 2 | 336 | 0.0060 | 245 | c.-37 others(256): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PDIA6_chr2_10778391_10817785 | 10806622 | T | TAAAGAGA others(238): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0229 | 1 | 342 | 0.0029 | 245 | c.20- others(260): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(238): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 342 | 0.0029 | 245 | c.20- others(260): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| PDXK_chr21_43714129_43767299 | 43741442 | G | GGGGGGCT others(238): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0251 | 1 | 358 | 0.0028 | 245 | c.143 others(260): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(238): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02615.hp1 others(7): Show |
a0001a0003 | a0001c0005a0001c0008a0001c0017others(1): Show | a0001c0005t0001a0001c0008t0001a0001c0017t0001others(1): Show | a0001c0005t0001g0039a0001c0005t0001g0260a0001c0005t0001g0261others(7): Show | 10 | 334 | 0.0299 | 245 | c.114 others(264): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(238): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01168.hp2 others(19): Show |
a0001 | a0001c0005a0001c0008a0001c0012others(1): Show | a0001c0005t0001a0001c0005t0005a0001c0005t0007others(5): Show | a0001c0005t0001g0295a0001c0005t0005g0019a0001c0005t0005g0231others(18): Show | 22 | 334 | 0.0659 | 245 | c.114 others(264): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(238): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0233 | 1 | 334 | 0.0030 | 245 | c.114 others(264): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PITPNM3_chr17_6446263_6561555 | 6561030 | C | CCCAACCA others(238): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0103 | 1 | 218 | 0.0046 | 245 | c.-46 others(256): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4476 | chr17 | TogoVar | ||||||
| PLCXD1_chrX_276381_308356 | 296867 | A | ACATTAAT others(238): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG02257.hp1 |
a0002 | a0002c0005a0002c0019 | a0002c0005t0022a0002c0005t0106a0002c0019t0022 | a0002c0005t0022g0035a0002c0005t0106g0077a0002c0019t0022g0138 | 3 | 176 | 0.0171 | 245 | c.734 others(262): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PLCXD1_chrX_276381_308356 | 298337 | C | CCATTATT others(238): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0003 | a0001c0003t0065 | a0001c0003t0065g0012 | 1 | 176 | 0.0057 | 245 | c.734 others(260): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PLCXD1_chrX_276381_308356 | 298344 | T | TCTGTCTA others(238): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0059 | 1 | 176 | 0.0057 | 245 | c.734 others(260): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PLCXD1_chrX_276381_308356 | 298611 | C | CGACGTGG others(238): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0094 | a0001c0002t0094g0140 | 1 | 176 | 0.0057 | 245 | c.734 others(260): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCCGG others(238): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0006 | 1 | 210 | 0.0048 | 245 | c.45+ others(256): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(238): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0182 | 1 | 210 | 0.0048 | 245 | c.387 others(264): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(238): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0205 | 1 | 210 | 0.0048 | 245 | c.387 others(264): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(238): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0020a0002c0003t0013 | a0001c0001t0020g0105a0002c0003t0013g0137 | 2 | 210 | 0.0095 | 245 | c.387 others(264): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(238): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03239.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0036a0001c0004t0063a0002c0003t0002 | a0001c0002t0036g0157a0001c0004t0063g0016a0002c0003t0002g0102 | 3 | 210 | 0.0143 | 245 | c.387 others(264): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(238): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0033 | 1 | 210 | 0.0048 | 245 | c.387 others(264): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(238): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0003 | a0002c0003t0051 | a0002c0003t0051g0079 | 1 | 210 | 0.0048 | 245 | c.387 others(264): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3215369 | G | GTCCAGGA others(238): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01884.hp2 NA18939.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0010 | a0001c0001t0004a0001c0001t0088a0002c0003t0001others(1): Show | a0001c0001t0004g0046a0001c0001t0088g0090a0002c0003t0001g0018others(1): Show | 4 | 210 | 0.0191 | 245 | c.388 others(264): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRIMA1_chr14_93713298_93793485 | 93722182 | G | GTAATGGT others(238): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19005.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0041a0001c0004t0001g0286 | 2 | 397 | 0.0050 | 245 | c.360 others(260): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
| PRIMA1_chr14_93713298_93793485 | 93722211 | G | GTGGTGCT others(238): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0322 | 1 | 397 | 0.0025 | 245 | c.360 others(260): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
| PRIMA1_chr14_93713298_93793485 | 93722351 | A | ATGGTGGT others(238): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0368 | 1 | 397 | 0.0025 | 245 | c.360 others(260): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
| PTPN20_chr10_46906428_47007322 | 47001382 | A | ATTTTCTT others(238): Show |
3_prime_UTR_variant | MODIFIER | HG03130.hp2 | a0008 | a0008c0008 | a0008c0008t0010 | a0008c0008t0010g0199 | 1 | 312 | 0.0032 | 245 | c.*64 others(254): Show |
PTPN20 | ENSG00000204179.11 | transcript | ENST00000374339.5 | protein_coding | 11/11 | 642 | chr10 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114070656 | T | TCCACAGT others(238): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0005g0018 | 3 | 67 | 0.0448 | 245 | c.173 others(262): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114070804 | C | CCACAGTT others(238): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011a0001c0001t0006g0012 | 2 | 67 | 0.0299 | 245 | c.173 others(262): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114070811 | C | CTTACACG others(238): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0039 | 2 | 67 | 0.0299 | 245 | c.173 others(262): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114070811 | C | CTTACACG others(238): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 67 | 0.0149 | 245 | c.173 others(262): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar |