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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(304): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 302 | 0.0033 | 311 | c.155 others(328): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PAMR1_chr11_35426827_35530616 | 35464681 | G | GAAAAAAA others(304): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 378 | 0.0027 | 311 | c.820 others(328): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605543 | A | ATATATAT others(304): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0063 | 1 | 100 | 0.0100 | 311 | c.223 others(330): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122726893 | T | TAATTTTA others(304): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 a0001c0001t0002g0244 |
2 | 366 | 0.0055 | 311 | c.494 others(328): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(304): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 311 | c.*70 others(322): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(304): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 400 | 0.0025 | 311 | c.*70 others(322): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(304): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 400 | 0.0050 | 311 | c.*70 others(322): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(304): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 292 | 0.0034 | 311 | c.471 others(326): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(304): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 292 | 0.0034 | 311 | c.471 others(326): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92550269 | T | TAAAAAGC others(304): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 154 | 0.0065 | 311 | c.336 others(332): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 715893 | C | CTGTGAGT others(304): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0006 | 1 | 366 | 0.0027 | 311 | c.-19 others(330): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76280866 | T | TAAAAAAG others(304): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02630.hp1 HG02647.hp2 |
a0002a0014a0017 | a0002c0046a0014c0032a0017c0101 | a0002c0046t0010a0014c0032t0009a0017c0101t0030 | a0002c0046t0010g0125 a0014c0032t0009g0127 a0017c0101t0030g0140 |
3 | 166 | 0.0181 | 311 | c.314 others(332): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104140465 | T | TAAAACAT others(304): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18979.hp2 NA18995.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0119 a0001c0001t0002g0139 a0001c0002t0001g0135 |
3 | 200 | 0.0150 | 311 | c.124 others(330): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32731543 | T | TAACATAA others(304): Show |
intron_variant | MODIFIER | HG02257.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0035 | a0001c0001t0023g0298 a0001c0001t0035g0300 |
2 | 334 | 0.0060 | 311 | c.212 others(328): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32731543 | T | TAACATAA others(304): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0299 | 1 | 334 | 0.0030 | 311 | c.212 others(328): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32731543 | T | TAACATAA others(304): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017 | a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 others(4): Show |
7 | 334 | 0.0210 | 311 | c.212 others(328): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41429793 | T | TCTTATTT others(304): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0084 a0001c0001t0001g0119 a0001c0001t0002g0154 others(2): Show |
5 | 206 | 0.0243 | 311 | c.844 others(330): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976875 | C | CAACCCCG others(304): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 408 | 0.0025 | 311 | c.215 others(328): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977476 | C | CCAACCCC others(304): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 408 | 0.0025 | 311 | c.215 others(328): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PHACTR4_chr1_28364740_28505364 | 28395818 | A | ATTTTTTT others(304): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0119 | 1 | 228 | 0.0044 | 311 | c.-38 others(330): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28395818 | A | ATTTTTTT others(304): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 |
a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0117 a0001c0006t0024g0118 |
2 | 228 | 0.0088 | 311 | c.-38 others(330): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59225143 | T | TAAGAAAT others(304): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 | 1 | 202 | 0.0050 | 311 | c.107 others(328): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10911127 | G | GAAGAAAT others(304): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19240.hp2 |
a0001a0020 | a0001c0024a0020c0066 | a0001c0024t0001a0020c0066t0002 | a0001c0024t0001g0156 a0020c0066t0002g0119 |
2 | 158 | 0.0127 | 311 | c.329 others(324): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10911130 | G | GAAATTAC others(304): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0054 | 1 | 158 | 0.0063 | 311 | c.329 others(324): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42182378 | T | TGTAGTGT others(304): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 378 | 0.0027 | 311 | c.803 others(326): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 8/13 | chr8 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42182378 | T | TGTAGTGT others(304): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(128): Show |
a0001a0004a0007 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(104): Show |
131 | 378 | 0.3466 | 311 | c.803 others(326): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 8/13 | chr8 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42182378 | T | TGTAGTGT others(304): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01123.hp2 HG01255.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0001g0109 others(14): Show |
19 | 378 | 0.0503 | 311 | c.803 others(326): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 8/13 | chr8 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977476 | C | CCAACCCC others(304): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 311 | c.*29 others(322): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1612 | chr1 | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152998738 | T | TTTATATA others(304): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 286 | 0.0035 | 311 | c.-50 others(322): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | |||||||
PRKD1_chr14_29571479_29932847 | 29575102 | T | TTTGTTTA others(304): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0092 | 1 | 156 | 0.0064 | 311 | c.*21 others(322): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1376 | chr14 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(304): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 227 | 0.0044 | 311 | c.*23 others(322): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
PSPC1_chr13_19697500_19787945 | 19779141 | C | CCCGTCTG others(304): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 258 | 0.0039 | 311 | c.372 others(328): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
PTCD2_chr5_72315373_72373395 | 72339706 | T | TAGTTTTT others(304): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0020others(3): Show | a0001c0001t0005g0060 a0001c0001t0011g0059 a0001c0001t0011g0062 others(6): Show |
11 | 328 | 0.0335 | 311 | c.753 others(326): Show |
PTCD2 | ENSG00000049883.15 | transcript | ENST00000380639.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61652480 | A | ACTTGTTG others(304): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 | 1 | 94 | 0.0106 | 311 | c.85+ others(328): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PUS7_chr7_105451503_105527271 | 105468680 | T | TCTAATTT others(304): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 350 | 0.0029 | 311 | c.139 others(328): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 11/15 | chr7 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136234723 | G | GGCTTGGG others(304): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG04199.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0015a0001c0001t0029others(1): Show | a0001c0001t0006g0278 a0001c0001t0006g0289 a0001c0001t0006g0292 others(5): Show |
9 | 392 | 0.0230 | 311 | c.329 others(328): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136234723 | G | GGCTTGGG others(304): Show |
intron_variant | MODIFIER | HG03942.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0284 a0001c0001t0006g0283 |
2 | 392 | 0.0051 | 311 | c.329 others(328): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492358 | G | GGCCCTCC others(304): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0187 | 1 | 295 | 0.0034 | 311 | c.126 others(330): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494118 | G | GGACCTCG others(304): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0114 | 1 | 295 | 0.0034 | 311 | c.126 others(330): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494118 | G | GGACCTCG others(304): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 NA18950.hp1 others(6): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0119 a0001c0001t0002g0002 a0001c0001t0002g0015 others(6): Show |
9 | 295 | 0.0305 | 311 | c.126 others(330): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RALGAPA1_chr14_35533356_35814295 | 35650941 | A | AGGAATTA others(304): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 272 | 0.0037 | 311 | c.567 others(328): Show |
RALGAPA1 | ENSG00000174373.17 | transcript | ENST00000680220.1 | protein_coding | 31/41 | chr14 | TogoVar | |||||||
RASAL2_chr1_178089104_178483850 | 178428464 | T | TGATTTTA others(304): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(3): Show | a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0068 others(35): Show |
38 | 180 | 0.2111 | 311 | c.674 others(328): Show |
RASAL2 | ENSG00000075391.18 | transcript | ENST00000367649.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAVER1_chr19_10311212_10338529 | 10337272 | C | CTGGGTGT others(304): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0192 | 1 | 438 | 0.0023 | 311 | c.-37 others(322): Show |
RAVER1 | ENSG00000161847.15 | transcript | ENST00000617231.5 | protein_coding | 3744 | chr19 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 6796061 | C | CAAAAGAA others(304): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0034 | 1 | 68 | 0.0147 | 311 | c.-16 others(332): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBMS2_chr12_56516820_56601193 | 56558297 | C | CGGCCTCC others(304): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0140 a0001c0001t0007g0152 a0001c0001t0008g0181 |
3 | 280 | 0.0107 | 311 | c.67- others(326): Show |
RBMS2 | ENSG00000076067.14 | transcript | ENST00000262031.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RCN3_chr19_49523003_49548633 | 49545495 | A | ACTAATTA others(304): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 2 | 380 | 0.0053 | 311 | c.*22 others(322): Show |
RCN3 | ENSG00000142552.8 | transcript | ENST00000270645.8 | protein_coding | 1863 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500842 | A | AGGGAGGA others(304): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0022 others(1): Show |
8 | 318 | 0.0252 | 311 | c.*36 others(322): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2916 | chr19 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8386567 | A | AGAACTCT others(304): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0003 | 1 | 204 | 0.0049 | 311 | c.128 others(332): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3504676 | A | AAAATATA others(304): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0195 | 1 | 196 | 0.0051 | 311 | c.-9+ others(328): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RGSL1_chr1_182445146_182565597 | 182451705 | G | GGACATCA others(304): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 338 | 0.0030 | 311 | c.13+ others(326): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |