view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXNB2_chr22_50269979_50312646 | 50274854 | C | CCCCAGTA others(96): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0052a0001c0080a0002c0032others(1): Show | a0001c0052t0001a0001c0080t0001a0002c0032t0001others(2): Show | a0001c0052t0001g0077 a0001c0080t0001g0079 a0002c0032t0001g0286 others(2): Show |
5 | 157 | 0.0318 | 103 | c.*84 others(112): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 124 | chr22 | TogoVar | |||||||
PNLDC1_chr6_159795276_159825704 | 159816140 | G | GCCACACC others(96): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 135 | 0.0074 | 103 | c.106 others(120): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159816140 | G | GCCACACC others(96): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 135 | 0.0074 | 103 | c.106 others(120): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159816140 | G | GCCACACC others(96): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 135 | 0.0074 | 103 | c.106 others(120): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159816140 | G | GCCACACC others(96): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0113 |
2 | 136 | 0.0147 | 103 | c.106 others(120): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159816147 | C | CCCTCCCC others(96): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 398 | 0.0025 | 103 | c.106 others(120): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159816155 | A | ACCCACCC others(96): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0244 | 1 | 263 | 0.0038 | 103 | c.106 others(120): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159816155 | A | ACCCACCC others(96): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0262 | 1 | 263 | 0.0038 | 103 | c.106 others(120): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159816155 | A | ACCCACCC others(96): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 263 | 0.0038 | 103 | c.106 others(120): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159816155 | A | ACCCACCC others(96): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01433.hp2 HG01934.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0106 others(6): Show |
9 | 271 | 0.0332 | 103 | c.106 others(120): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81602317 | T | TTTTTAAA others(96): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02818.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0077 a0001c0001t0001g0112 a0001c0001t0002g0049 |
3 | 168 | 0.0179 | 103 | c.303 others(122): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPM1L_chr3_160751231_161083902 | 160944843 | A | ATATAACA others(96): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0031 | 1 | 206 | 0.0049 | 103 | c.400 others(122): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6336817 | C | CTCCCTCC others(96): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0114 | 1 | 210 | 0.0048 | 103 | c.791 others(120): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131952689 | T | TGGGGGTT others(96): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0220 | 1 | 383 | 0.0026 | 103 | c.108 others(122): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151855158 | T | TGCTCCAC others(96): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 164 | 0.0061 | 103 | c.114 others(122): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855203 | C | CCGCCCTC others(96): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0244 | 1 | 250 | 0.0040 | 103 | c.114 others(122): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161350871 | T | TTTTTATA others(96): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 17 | 0.0588 | 103 | c.128 others(120): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 11/11 | chr6 | TogoVar | |||||||
PRMT2_chr21_46630674_46670124 | 46645268 | A | AAAAAAAA others(96): Show |
intron_variant | MODIFIER | HG01168.hp1 NA18949.hp2 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0165 a0001c0001t0003g0185 a0001c0001t0015g0123 |
3 | 183 | 0.0164 | 103 | c.327 others(118): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170682343 | T | TAAGCCTG others(96): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18939.hp2 NA18999.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0025 | a0001c0001t0002g0256 a0001c0001t0002g0262 a0001c0001t0002g0326 others(2): Show |
5 | 280 | 0.0179 | 103 | c.241 others(122): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170682343 | T | TAAGCCTG others(96): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0024 a0001c0001t0007g0021 |
2 | 277 | 0.0072 | 103 | c.241 others(122): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170682343 | T | TAAGCCTG others(96): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01123.hp2 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0056 a0001c0001t0002g0197 a0001c0001t0002g0200 others(2): Show |
5 | 280 | 0.0179 | 103 | c.241 others(122): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTGES3L_chr17_42963103_42985080 | 42967537 | A | AATATATA others(96): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 2 | 34 | 0.0588 | 103 | c.*16 others(114): Show |
PTGES3L | ENSG00000267060.7 | transcript | ENST00000591916.7 | protein_coding | 565 | chr17 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140927975 | A | AAAAATAT others(96): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0084 | 1 | 83 | 0.0120 | 103 | c.-12 others(122): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar | |||||||
PTPRA_chr20_2868481_3043669 | 2910408 | G | GTATATTA others(96): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 others(19): Show |
22 | 83 | 0.2651 | 103 | c.-12 others(124): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347183 | T | TATATATA others(96): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0267 | 1 | 411 | 0.0024 | 103 | c.120 others(120): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 460876 | C | CTGTGGCT others(96): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0008 | a0001c0008t0058 | a0001c0008t0058g0113 | 1 | 294 | 0.0034 | 103 | c.715 others(118): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 460961 | G | GCCCCTGT others(96): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0006 | a0001c0006t0059 | a0001c0006t0059g0111 | 1 | 293 | 0.0034 | 103 | c.715 others(118): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504509 | A | ACCCCCTC others(96): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02738.hp2 HG03669.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0003g0075 a0001c0001t0008g0062 a0001c0001t0008g0064 others(5): Show |
8 | 285 | 0.0281 | 103 | c.139 others(120): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAD52_chr12_906736_954694 | 952995 | A | AGGGGGAA others(96): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 12 | 0.0833 | 103 | c.-34 others(114): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 3302 | chr12 | TogoVar | |||||||
RAD52_chr12_906736_954694 | 952995 | A | AGGGGGAA others(96): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 12 | 0.0833 | 103 | c.-34 others(114): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 3302 | chr12 | TogoVar | |||||||
RAD52_chr12_906736_954694 | 952995 | A | AGGGGGAA others(96): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0130 | 1 | 12 | 0.0833 | 103 | c.-34 others(114): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 3302 | chr12 | TogoVar | |||||||
RAD52_chr12_906736_954694 | 952995 | A | AGGGGGAA others(96): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 12 | 0.0833 | 103 | c.-34 others(114): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 3302 | chr12 | TogoVar | |||||||
RAD52_chr12_906736_954694 | 952995 | A | AGGGGGAA others(96): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 12 | 0.0833 | 103 | c.-34 others(114): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 3302 | chr12 | TogoVar | |||||||
RALGPS1_chr9_126909782_127228166 | 127182435 | T | TTCCTTCT others(96): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0133 | 1 | 263 | 0.0038 | 103 | c.910 others(120): Show |
RALGPS1 | ENSG00000136828.19 | transcript | ENST00000259351.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RBBP6_chr16_24534566_24577863 | 24575770 | A | AGAGGGAG others(96): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0009 | 1 | 295 | 0.0034 | 103 | c.*33 others(114): Show |
RBBP6 | ENSG00000122257.20 | transcript | ENST00000319715.10 | protein_coding | 2908 | chr16 | TogoVar | |||||||
RETREG1_chr5_16468053_16621997 | 16525280 | G | GGGGGACA others(96): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0142 a0001c0001t0001g0143 |
3 | 290 | 0.0103 | 103 | c.458 others(122): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296162 | T | TCTTTCTT others(96): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0155 | 1 | 229 | 0.0044 | 103 | c.207 others(118): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341547 | G | GAGGGTGG others(96): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02683.hp2 HG04184.hp1 |
a0006 | a0006c0015 | a0006c0015t0002 | a0006c0015t0002g0091 a0006c0015t0002g0094 a0006c0015t0002g0095 |
3 | 309 | 0.0097 | 103 | c.188 others(122): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RHOT2_chr16_663132_679171 | 664570 | C | CTGCCTGG others(96): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0002 | 1 | 378 | 0.0026 | 103 | c.-36 others(114): Show |
RHOT2 | ENSG00000140983.15 | transcript | ENST00000315082.9 | protein_coding | 3561 | chr16 | TogoVar | |||||||
RIPK2_chr8_89752816_89796064 | 89753679 | G | GATATTTT others(96): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0002 | a0001c0001t0001g0009 a0001c0001t0001g0114 a0001c0001t0002g0010 others(13): Show |
28 | 320 | 0.0875 | 103 | c.-43 others(114): Show |
RIPK2 | ENSG00000104312.8 | transcript | ENST00000220751.5 | protein_coding | 4136 | chr8 | TogoVar | |||||||
RIPK4_chr21_41734373_41772052 | 41736056 | C | CTTCTTCT others(96): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 228 | 0.0044 | 103 | c.*47 others(114): Show |
RIPK4 | ENSG00000183421.12 | transcript | ENST00000332512.8 | protein_coding | 3316 | chr21 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666185 | T | TTCTTTTT others(96): Show |
intron_variant | MODIFIER | HG01106.hp2 NA18970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0176 a0002c0002t0002g0167 |
2 | 272 | 0.0074 | 103 | c.3+2 others(118): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666185 | T | TTCTTTTT others(96): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0187 | 1 | 271 | 0.0037 | 103 | c.3+2 others(118): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666190 | T | TTTTCTTT others(96): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0152 | 1 | 168 | 0.0060 | 103 | c.3+2 others(118): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666190 | T | TTTTCTTT others(96): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 168 | 0.0060 | 103 | c.3+2 others(118): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666190 | T | TTTTCTTT others(96): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01256.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0190 others(8): Show |
11 | 178 | 0.0618 | 103 | c.3+2 others(118): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666190 | T | TTTTCTTT others(96): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG02040.hp2 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0013others(2): Show | a0001c0001t0001a0002c0002t0002a0006c0013t0001others(2): Show | a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 others(7): Show |
10 | 177 | 0.0565 | 103 | c.3+2 others(118): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666190 | T | TTTTCTTT others(96): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 168 | 0.0060 | 103 | c.3+2 others(118): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242302 | A | ACCTTCCT others(96): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 131 | 0.0076 | 103 | c.613 others(120): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 243265 | C | CCTTCCTC others(96): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0005 | 1 | 132 | 0.0076 | 103 | c.613 others(120): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar |