| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCTCCC others(161): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0094 | a0001c0094t0001 | a0001c0094t0001g0131 | 1 | 134 | 0.0075 | 168 | c.575 others(189): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
| PKIA_chr8_78511340_78610267 | 78524024 | T | TTATATAT others(161): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0127 | 1 | 186 | 0.0054 | 168 | c.-15 others(187): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PLCXD1_chrX_276381_308356 | 283523 | A | AGTGGGGG others(161): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0086a0001c0001t0087 | a0001c0001t0086g0061a0001c0001t0087g0060 | 2 | 176 | 0.0114 | 168 | c.-21 others(183): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PLCXD1_chrX_276381_308356 | 283604 | C | CCGGGTGG others(161): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02615.hp2 others(2): Show |
a0001a0010 | a0001c0001a0001c0003a0010c0008 | a0001c0001t0015a0001c0001t0114a0001c0003t0051others(1): Show | a0001c0001t0015g0073a0001c0001t0015g0074a0001c0001t0114g0013others(2): Show | 5 | 176 | 0.0284 | 168 | c.-21 others(183): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 140879 | C | CCAACCCA others(161): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0071 | a0006c0071t0018 | a0006c0071t0018g0202 | 1 | 210 | 0.0048 | 168 | c.147 others(185): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PNPLA1_chr6_36265060_36318955 | 36275948 | T | TTTTCTTT others(161): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0370 | 1 | 386 | 0.0026 | 168 | c.205 others(185): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| POTEM_chr14_18962434_19008752 | 18966837 | C | CACGCCGC others(161): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 67 | 0.0149 | 168 | c.-64 others(177): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 596 | chr14 | TogoVar | ||||||
| PPP1R16A_chr8_144472982_144507121 | 144505532 | T | TTGCGTTC others(161): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(5): Show | 8 | 356 | 0.0225 | 168 | c.*36 others(179): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 3412 | chr8 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3194673 | C | CTGTCTCC others(161): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0059 | 1 | 210 | 0.0048 | 168 | c.387 others(185): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3379874 | A | ACACAGTC others(161): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0042 | 1 | 210 | 0.0048 | 168 | c.439 others(185): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3408663 | A | AGAGTGTG others(161): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0016 | 1 | 210 | 0.0048 | 168 | c.118 others(187): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM9_chr5_23502609_23533093 | 23527373 | A | ACCTCCTC others(161): Show |
disruptive_inframe_insertion | MODERATE | HG02622.hp1 HG03041.hp1 HG03225.hp2 others(1): Show |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0009a0006c0005t0001g0075a0006c0005t0001g0167 | 4 | 424 | 0.0094 | 168 | c.229 others(177): Show |
p.Leu others(181): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2483/3193 | 2295/2685 | 765/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PRKCA_chr17_66297613_66815743 | 66799517 | A | ATGGTGGT others(161): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0014 | 1 | 178 | 0.0056 | 168 | c.185 others(187): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2085727 | G | GTGAGGCA others(161): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 286 | 0.0035 | 168 | c.334 others(187): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKN_chr6_161342417_162732766 | 161374605 | T | TAATGCAT others(161): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0002g0007a0001c0001t0002g0023a0001c0001t0007g0020others(2): Show | 5 | 32 | 0.1563 | 168 | c.116 others(189): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
| PROZ_chr13_113153648_113177386 | 113161846 | C | CCATCCTC others(161): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 378 | 0.0027 | 168 | c.259 others(183): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162555 | T | TCCCCACA others(161): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01346.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0002 | a0001c0001t0002g0176a0001c0001t0002g0177a0001c0001t0002g0178others(1): Show | 4 | 378 | 0.0106 | 168 | c.260 others(183): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162560 | A | ACATCCTC others(161): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0200a0001c0004t0003g0211 | 2 | 378 | 0.0053 | 168 | c.260 others(183): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162602 | T | TCATCCTC others(161): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 378 | 0.0053 | 168 | c.260 others(183): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162723 | T | TCCCCACA others(161): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 2 | 378 | 0.0053 | 168 | c.260 others(183): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162728 | A | ACATCCTC others(161): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01167.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0032others(8): Show | 16 | 378 | 0.0423 | 168 | c.260 others(183): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162728 | A | ACATCCTC others(161): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 378 | 0.0027 | 168 | c.260 others(183): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162728 | A | ACATCCTC others(161): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059a0001c0002t0002g0060 | 2 | 378 | 0.0053 | 168 | c.260 others(183): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PRPF31_chr19_54110754_54136713 | 54127406 | C | CTATTTTA others(161): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 227 | 0.0044 | 168 | c.946 others(183): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(161): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 227 | 0.0044 | 168 | c.*23 others(179): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
| PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(161): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 227 | 0.0044 | 168 | c.*23 others(179): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
| PSME3_chr17_42828397_42848760 | 42848524 | A | AATATATA others(161): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 264 | 0.0038 | 168 | c.*69 others(179): Show |
PSME3 | ENSG00000131467.12 | transcript | ENST00000590720.6 | protein_coding | 4765 | chr17 | TogoVar | ||||||
| PSME3_chr17_42828397_42848760 | 42848524 | A | AATATATA others(161): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 264 | 0.0038 | 168 | c.*69 others(179): Show |
PSME3 | ENSG00000131467.12 | transcript | ENST00000590720.6 | protein_coding | 4765 | chr17 | TogoVar | ||||||
| PTMA_chr2_231703525_231718551 | 231715720 | C | CCTCACCG others(161): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 HG03834.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0018 | 3 | 392 | 0.0077 | 168 | c.*28 others(179): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 2170 | chr2 | TogoVar | ||||||
| PTMA_chr2_231703525_231718551 | 231715726 | T | TGGACTCC others(161): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00738.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0016others(6): Show | 43 | 392 | 0.1097 | 168 | c.*28 others(179): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 2176 | chr2 | TogoVar | ||||||
| PTMA_chr2_231703525_231718551 | 231715726 | T | TGGACTCC others(161): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 2 | 392 | 0.0051 | 168 | c.*28 others(179): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 2176 | chr2 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42958331 | G | GAGAGGGA others(161): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00738.hp2 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0007others(24): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0014others(41): Show | a0001c0002t0002g0031a0001c0002t0002g0058a0001c0002t0006g0039others(47): Show | 50 | 62 | 0.8065 | 168 | c.89- others(185): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42958331 | G | GAGAGGGA others(161): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02886.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0001c0021others(2): Show | a0001c0002t0003a0001c0002t0006a0001c0008t0001others(3): Show | a0001c0002t0003g0040a0001c0002t0006g0036a0001c0008t0001g0060others(3): Show | 6 | 62 | 0.0968 | 168 | c.89- others(185): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42993532 | A | ATGTGTGT others(161): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 HG03471.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0002a0002c0004t0024 | a0001c0003t0001g0038a0002c0004t0002g0005a0002c0004t0024g0006 | 3 | 62 | 0.0484 | 168 | c.89- others(187): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42993532 | A | ATGTGTGT others(161): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG02109.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0007others(5): Show | a0001c0002t0003a0001c0002t0014a0001c0003t0004others(6): Show | a0001c0002t0003g0040a0001c0002t0014g0052a0001c0003t0004g0041others(6): Show | 9 | 62 | 0.1452 | 168 | c.89- others(187): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
| PXN_chr12_120205447_120270730 | 120206734 | C | CTACTACT others(161): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0022 | a0001c0022t0012 | a0001c0022t0012g0153 | 1 | 324 | 0.0031 | 168 | c.*55 others(179): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 3712 | chr12 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114120251 | C | CCTCCCTC others(161): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0019a0001c0002t0002g0031a0001c0003t0003g0020others(3): Show | 6 | 67 | 0.0896 | 168 | c.55+ others(185): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASGEF1B_chr4_81421393_81476907 | 81466761 | A | AGAAAGAA others(161): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0297a0001c0001t0006g0296 | 2 | 316 | 0.0063 | 168 | c.-7+ others(183): Show |
RASGEF1B | ENSG00000138670.19 | transcript | ENST00000264400.7 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
| RASGEF1B_chr4_81421393_81476907 | 81466765 | A | AGAAAGAA others(161): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 316 | 0.0032 | 168 | c.-7+ others(183): Show |
RASGEF1B | ENSG00000138670.19 | transcript | ENST00000264400.7 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8375737 | C | CTTCCTCG others(161): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03195.hp2 |
a0001 | a0001c0004a0001c0019 | a0001c0004t0014a0001c0019t0014 | a0001c0004t0014g0126a0001c0019t0014g0119 | 2 | 204 | 0.0098 | 168 | c.128 others(187): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3505421 | A | AATAAAAT others(161): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0147 | 1 | 196 | 0.0051 | 168 | c.-9+ others(185): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(161): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0006 | a0006c0015 | a0006c0015t0002 | a0006c0015t0002g0095 | 1 | 312 | 0.0032 | 168 | c.188 others(187): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RHOB_chr2_20442074_20454440 | 20446121 | T | TAGTGTAT others(161): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0000 | 2 | 368 | 0.0054 | 168 | c.-13 others(179): Show |
RHOB | ENSG00000143878.10 | transcript | ENST00000272233.6 | protein_coding | 952 | chr2 | TogoVar | ||||||
| RIMBP2_chr12_130391133_130721299 | 130646087 | T | TTCCCTCA others(161): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 180 | 0.0056 | 168 | c.-35 others(189): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
| RIN3_chr14_92508781_92693994 | 92547124 | A | ATTATAAA others(161): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 334 | 0.0030 | 168 | c.45- others(183): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RNASE10_chr14_20500537_20518884 | 20505260 | T | TTCTCCCT others(161): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0008 | 1 | 396 | 0.0025 | 168 | c.-76 others(177): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 276 | chr14 | TogoVar | ||||||
| RNF167_chr17_4935268_4950222 | 4948734 | A | AACACTCA others(161): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 440 | 0.0023 | 168 | c.*37 others(179): Show |
RNF167 | ENSG00000108523.16 | transcript | ENST00000262482.11 | protein_coding | 3513 | chr17 | TogoVar | ||||||
| ROCK2_chr2_11174759_11349636 | 11330945 | G | GGAGGAGG others(161): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098 | 1 | 320 | 0.0031 | 168 | c.141 others(187): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | ||||||
| ROCK2_chr2_11174759_11349636 | 11330945 | G | GGAGGAGG others(161): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0224 | 1 | 320 | 0.0031 | 168 | c.141 others(187): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | ||||||
| ROCK2_chr2_11174759_11349636 | 11330945 | G | GGAGGAGG others(161): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02622.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074a0002c0002t0002g0077 | 2 | 320 | 0.0063 | 168 | c.141 others(187): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar |