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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPRL1_chr20_64075082_64105633 | 64088631 | C | CAGGGAAG others(233): Show |
intron_variant | MODIFIER | HG01934.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0016a0001c0001t0012g0017 | 2 | 66 | 0.0303 | 240 | c.-18 others(259): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OPRL1_chr20_64075082_64105633 | 64088872 | A | AGTGGCCA others(233): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0010 | 1 | 66 | 0.0152 | 240 | c.-18 others(259): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OR1F1_chr16_3183204_3211556 | 3198019 | A | AGGAGAGG others(233): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 328 | 0.0031 | 240 | c.-12 others(257): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
OR1S2_chr11_58198204_58209142 | 58199861 | T | TGAAAATG others(233): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 HG01516.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0000 | a0001c0002t0000g0000 | 4 | 426 | 0.0094 | 240 | c.*33 others(251): Show |
OR1S2 | ENSG00000197887.6 | transcript | ENST00000641683.2 | protein_coding | 3342 | chr11 | TogoVar | ||||||
OR2T12_chr1_248285139_248308424 | 248306678 | C | CCTGAGGA others(233): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0007 | a0007c0007 | a0007c0007t0031 | a0007c0007t0031g0067 | 1 | 406 | 0.0025 | 240 | c.-35 others(251): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3255 | chr1 | TogoVar | ||||||
OR52E6_chr11_5835928_5846897 | 5844281 | A | ATATATAT others(233): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 450 | 0.0022 | 240 | c.-23 others(251): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2385 | chr11 | TogoVar | ||||||
OTOGL_chr12_80094537_80385880 | 80180105 | A | ATTGCTAC others(233): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0009 | a0009c0020 | a0009c0020t0006 | a0009c0020t0006g0024 | 1 | 168 | 0.0060 | 240 | c.-19 others(259): Show |
OTOGL | ENSG00000165899.12 | transcript | ENST00000547103.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
OTOGL_chr12_80094537_80385880 | 80180233 | G | GTCATAGG others(233): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0156 | 1 | 168 | 0.0060 | 240 | c.-19 others(259): Show |
OTOGL | ENSG00000165899.12 | transcript | ENST00000547103.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(233): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 302 | 0.0033 | 240 | c.155 others(257): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(233): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0260 | 1 | 302 | 0.0033 | 240 | c.155 others(257): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(233): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 308 | 0.0033 | 240 | c.226 others(259): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46413086 | G | GGGAGAGG others(233): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0102 | 1 | 332 | 0.0030 | 240 | c.615 others(257): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46413142 | A | ACCCGGGA others(233): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 332 | 0.0030 | 240 | c.615 others(257): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46413142 | A | ACCCGGGA others(233): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG02083.hp2 others(7): Show |
a0002 | a0002c0002a0002c0018 | a0002c0002t0001a0002c0018t0001 | a0002c0002t0001g0035a0002c0002t0001g0038a0002c0002t0001g0066others(7): Show | 10 | 332 | 0.0301 | 240 | c.615 others(257): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46413142 | A | ACCCGGGA others(233): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 332 | 0.0030 | 240 | c.615 others(257): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46413142 | A | ACCCGGGA others(233): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03669.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0299a0002c0002t0001g0055 | 2 | 332 | 0.0060 | 240 | c.615 others(257): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46413142 | A | ACCCGGGA others(233): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0033 | a0033c0081 | a0033c0081t0001 | a0033c0081t0001g0221 | 1 | 332 | 0.0030 | 240 | c.615 others(257): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46413142 | A | ACCCGGGA others(233): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 332 | 0.0030 | 240 | c.615 others(257): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46413142 | A | ACCCGGGA others(233): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0054 | a0054c0060 | a0054c0060t0001 | a0054c0060t0001g0290 | 1 | 332 | 0.0030 | 240 | c.615 others(257): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE4D_chr5_58964038_59898726 | 59200581 | C | CTACACGT others(233): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 74 | 0.0135 | 240 | c.648 others(257): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 2/14 | chr5 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(233): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0201 | 1 | 342 | 0.0029 | 240 | c.20- others(255): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741165 | G | GGGGGGCT others(233): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0152 | 1 | 358 | 0.0028 | 240 | c.143 others(255): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741395 | G | GGGGGGCT others(233): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0217 | 1 | 358 | 0.0028 | 240 | c.143 others(255): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(233): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0020 | a0020c0033 | a0020c0033t0006 | a0020c0033t0006g0093 | 1 | 206 | 0.0049 | 240 | c.844 others(259): 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(233): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0082 | 1 | 206 | 0.0049 | 240 | c.844 others(259): 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(233): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01109.hp2 others(40): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0013others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(21): Show | a0001c0001t0001g0084a0001c0001t0001g0119a0001c0001t0001g0151others(40): Show | 43 | 206 | 0.2087 | 240 | c.844 others(259): 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(233): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00673.hp2 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0032others(10): Show | a0001c0001t0001a0001c0004t0001a0001c0032t0007others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0004t0001g0046others(18): Show | 21 | 206 | 0.1019 | 240 | c.844 others(259): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7203198 | G | GGACTAGA others(233): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 428 | 0.0023 | 240 | c.847 others(255): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCG others(233): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(137): Show |
a0001a0005a0006others(5): Show | a0001c0001a0001c0007a0001c0011others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0002g0001a0001c0001t0002g0015a0001c0001t0002g0025others(48): Show | 140 | 376 | 0.3723 | 240 | c.122 others(255): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCG others(233): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 376 | 0.0027 | 240 | c.122 others(255): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59821980 | G | GATCCCAC others(233): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 250 | 0.0040 | 240 | c.132 others(261): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59822000 | A | AATCCCAC others(233): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 250 | 0.0040 | 240 | c.132 others(261): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF21B_chr22_44876162_45015005 | 44883981 | C | CCACCATC others(233): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 |
a0001 | a0001c0011 | a0001c0011t0006a0001c0011t0015 | a0001c0011t0006g0207a0001c0011t0015g0015 | 2 | 300 | 0.0067 | 240 | c.137 others(257): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar | ||||||
PIGG_chr4_494210_545200 | 535424 | C | CGCCGCGG others(233): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02559.hp2 others(5): Show |
a0005 | a0005c0008a0005c0009a0005c0021 | a0005c0008t0004a0005c0009t0002a0005c0021t0004 | a0005c0008t0004g0037a0005c0008t0004g0250a0005c0008t0004g0276others(4): Show | 8 | 362 | 0.0221 | 240 | c.273 others(259): Show |
PIGG | ENSG00000174227.16 | transcript | ENST00000453061.7 | protein_coding | 12/12 | chr4 | TogoVar | ||||||
PIGN_chr18_62036164_62192056 | 62046485 | T | TGGGTTTA others(233): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02683.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0060a0004c0007t0059a0004c0007t0060others(7): Show | a0001c0001t0060g0338a0004c0007t0059g0318a0004c0007t0059g0319others(9): Show | 12 | 342 | 0.0351 | 240 | c.267 others(257): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCTCCC others(233): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0026 | a0026c0073 | a0026c0073t0005 | a0026c0073t0005g0094 | 1 | 134 | 0.0075 | 240 | c.575 others(261): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9188643 | C | CTGTTCAC others(233): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0119a0002c0002t0001g0034 | 2 | 140 | 0.0143 | 240 | c.-78 others(259): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PNMA5_chrX_152983824_152999116 | 152998672 | A | AAATATAT others(233): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 286 | 0.0035 | 240 | c.-49 others(251): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4557 | chrX | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137504191 | A | AGAAGAAG others(233): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0091 | 1 | 188 | 0.0053 | 240 | c.147 others(259): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PODNL1_chr19_13926187_13943417 | 13936868 | A | AATCCCCC others(233): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080a0001c0001t0002g0081 | 2 | 432 | 0.0046 | 240 | c.226 others(255): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
PODNL1_chr19_13926187_13943417 | 13937114 | A | ACAACACC others(233): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(48): Show |
a0001a0005a0014 | a0001c0001a0005c0010a0014c0012 | a0001c0001t0003a0005c0010t0003a0014c0012t0003 | a0001c0001t0003g0003a0001c0001t0003g0006a0001c0001t0003g0028others(6): Show | 51 | 432 | 0.1181 | 240 | c.226 others(255): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
PODNL1_chr19_13926187_13943417 | 13937114 | A | ACAACACC others(233): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02040.hp1 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 5 | 432 | 0.0116 | 240 | c.226 others(255): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2080410 | G | GGGGGTGG others(233): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0002 | 1 | 194 | 0.0052 | 240 | c.238 others(257): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 23/25 | chr4 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2080410 | G | GGGGGTGG others(233): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG03453.hp2 others(4): Show |
a0002a0008 | a0002c0001a0008c0008 | a0002c0001t0001a0008c0008t0001 | a0002c0001t0001g0089a0002c0001t0001g0111a0002c0001t0001g0132others(4): Show | 7 | 194 | 0.0361 | 240 | c.238 others(257): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 23/25 | chr4 | TogoVar | ||||||
PPM1L_chr3_160751231_161083902 | 160945128 | T | TAACATGT others(233): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126a0001c0001t0003g0140 | 2 | 206 | 0.0097 | 240 | c.400 others(259): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
PPP1R12B_chr1_202343699_202597702 | 202391570 | T | TTGAAGAT others(233): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0099a0001c0001t0100 | a0001c0001t0017g0137a0001c0001t0017g0143a0001c0001t0099g0138others(1): Show | 4 | 254 | 0.0158 | 240 | c.292 others(259): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150197964 | T | TCACGGTG others(233): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0188 | 1 | 312 | 0.0032 | 240 | c.307 others(259): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3163129 | G | GCGCAGAA others(233): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0039 | a0001c0006t0039g0140 | 1 | 210 | 0.0048 | 240 | c.38- others(257): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3287695 | A | ACCGCCCC others(233): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 210 | 0.0048 | 240 | c.438 others(259): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCA_chr17_66297613_66815743 | 66798818 | A | ATGGTGGT others(233): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 178 | 0.0056 | 240 | c.185 others(259): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |