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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBFOX3_chr17_79084345_79616051 | 79484491 | GGGGCCTG others(36): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01070.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0065 others(9): Show |
12 | 152 | 0.0789 | -43 | c.-31 others(62): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBM24_chr6_17276361_17298871 | 17294525 | CCCGCCTC others(36): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0038 |
4 | 440 | 0.0091 | -43 | c.*24 others(54): Show |
RBM24 | ENSG00000112183.15 | transcript | ENST00000379052.10 | protein_coding | 655 | chr6 | TogoVar | |||||||
RBM25_chr14_73053534_73128899 | 73083560 | TTTTTTTC others(36): Show |
T | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0360 | 1 | 386 | 0.0026 | -43 | c.382 others(56): Show |
RBM25 | ENSG00000119707.14 | transcript | ENST00000261973.12 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RBM48_chr7_92523795_92545481 | 92539874 | ATTTTAAA others(36): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0014 | 1 | 394 | 0.0025 | -43 | c.*29 others(54): Show |
RBM48 | ENSG00000127993.16 | transcript | ENST00000265732.10 | protein_coding | 5/5 | 2940 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RBMS3_chr3_29276071_30015386 | 29820188 | CAAAAAAA others(36): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0054 a0001c0001t0019g0055 |
2 | 25 | 0.0800 | -43 | c.638 others(62): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RELL1_chr4_37605634_37691376 | 37669191 | GGTCAGCC others(36): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 322 | 0.0031 | -43 | c.88+ others(60): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138911653 | CAGATGTG others(36): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0376 a0001c0002t0003g0377 |
2 | 388 | 0.0052 | -43 | c.197 others(60): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 16/19 | chr6 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16403932 | ATTTATAT others(36): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00609.hp1 others(72): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0066 others(72): Show |
75 | 156 | 0.4808 | -43 | c.441 others(60): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6061996 | ACAACAAC others(36): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 306 | 0.0033 | -43 | c.-8- others(60): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
RGPD2_chr2_87750960_87830796 | 87824751 | CGCCGCCG others(36): Show |
C | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152 | 1 | 167 | 0.0060 | -43 | c.72+ others(56): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD2_chr2_87750960_87830796 | 87825367 | CGCCGAGG others(36): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0159 | 1 | 176 | 0.0057 | -43 | c.72+ others(56): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGS17_chr6_152999459_153136282 | 153054049 | ATGTATAT others(36): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03453.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0109 a0001c0001t0005g0160 a0001c0001t0006g0016 |
3 | 278 | 0.0108 | -43 | c.-25 others(62): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
RGS6_chr14_71927429_72571530 | 72465430 | GTCATGAG others(36): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 others(59): Show |
62 | 128 | 0.4844 | -43 | c.395 others(58): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RGSL1_chr1_182445146_182565597 | 182446816 | TATATATA others(36): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 335 | 0.0030 | -43 | c.-33 others(54): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 3329 | chr1 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706422 | TCTCTCTC others(36): Show |
T | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 425 | 0.0024 | -43 | c.-77 others(58): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706426 | TCTCTACA others(36): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0023 | -43 | c.-77 others(58): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706430 | TACACACA others(36): Show |
T | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 415 | 0.0024 | -43 | c.-77 others(58): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RICTOR_chr5_38932920_39079399 | 39075089 | CGCCGGGA others(36): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0005 | a0001c0005t0026 | a0001c0005t0026g0328 | 1 | 336 | 0.0030 | -43 | c.-75 others(52): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 691 | chr5 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130610094 | GGGGGGAA others(36): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0103 |
2 | 178 | 0.0112 | -43 | c.-21 others(64): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130610123 | AGTCCCTC others(36): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 177 | 0.0056 | -43 | c.-21 others(64): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130610154 | CCTGCTCC others(36): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 178 | 0.0056 | -43 | c.-21 others(64): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19844670 | CTTCTTCT others(36): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02258.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0009g0029 a0001c0001t0009g0245 a0001c0002t0002g0149 others(7): Show |
10 | 199 | 0.0503 | -43 | c.-36 others(62): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RNASE2_chr14_20950487_20961436 | 20960036 | ATTGTAGA others(36): Show |
A | downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -43 | c.*37 others(54): Show |
RNASE2 | ENSG00000169385.3 | transcript | ENST00000304625.3 | protein_coding | 3601 | chr14 | TogoVar | |||||||
RNF10_chr12_120529356_120582588 | 120553038 | GTTTTTTT others(36): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 HG01516.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0340 others(6): Show |
9 | 69 | 0.1304 | -43 | c.554 others(58): Show |
RNF10 | ENSG00000022840.17 | transcript | ENST00000325954.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RNF11_chr1_51231273_51278447 | 51250645 | TGGCGTGG others(36): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0027 | a0001c0001t0003g0055 a0001c0001t0018g0007 a0001c0001t0027g0007 |
4 | 272 | 0.0147 | -43 | c.123 others(62): Show |
RNF11 | ENSG00000123091.5 | transcript | ENST00000242719.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF126_chr19_642526_668214 | 644457 | CCCCCGGG others(36): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(136): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(129): Show |
139 | 258 | 0.5388 | -43 | c.*36 others(54): Show |
RNF126 | ENSG00000070423.18 | transcript | ENST00000292363.10 | protein_coding | 3068 | chr19 | TogoVar | |||||||
RNF126_chr19_642526_668214 | 651094 | GCCAGGAG others(36): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002 | a0001c0001t0003g0286 a0001c0002t0001g0072 a0001c0002t0001g0352 others(3): Show |
6 | 432 | 0.0139 | -43 | c.443 others(58): Show |
RNF126 | ENSG00000070423.18 | transcript | ENST00000292363.10 | protein_coding | 4/8 | chr19 | TogoVar | |||||||
RNF126_chr19_642526_668214 | 651187 | ATGGGGCC others(36): Show |
A | intron_variant | MODIFIER | NA18945.hp1 NA19070.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0097 a0002c0003t0001g0236 |
2 | 432 | 0.0046 | -43 | c.443 others(58): Show |
RNF126 | ENSG00000070423.18 | transcript | ENST00000292363.10 | protein_coding | 4/8 | chr19 | TogoVar | |||||||
RNF180_chr5_64160843_64377869 | 64285456 | TTTGGCTG others(36): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 248 | 0.0040 | -43 | c.122 others(64): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RNF185_chr22_31155182_31212019 | 31193341 | CAGCGGGA others(36): Show |
C | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 376 | 0.0027 | -43 | c.195 others(58): Show |
RNF185 | ENSG00000138942.17 | transcript | ENST00000326132.11 | protein_coding | 3/6 | chr22 | TogoVar | |||||||
RNGTT_chr6_88604897_88968618 | 88697913 | GAAATACA others(36): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 a0001c0001t0002g0182 |
2 | 134 | 0.0149 | -43 | c.144 others(64): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 13/15 | chr6 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60597552 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02572.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0031a0001c0001t0035 | a0001c0001t0010g0081 a0001c0001t0031g0116 a0001c0001t0035g0101 |
3 | 112 | 0.0268 | -43 | c.197 others(62): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RPS6KB1_chr17_59888121_59955574 | 59909226 | CTTTTTTT others(36): Show |
C | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 3 | 0.3333 | -43 | c.142 others(60): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RSF1_chr11_77655009_77825722 | 77732339 | AGTCTCAC others(36): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 350 | 0.0029 | -43 | c.579 others(60): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106568055 | TGCTCTTT others(36): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01106.hp2 others(73): Show |
a0001a0005 | a0001c0003a0001c0005a0001c0008others(3): Show | a0001c0003t0002a0001c0003t0006a0001c0003t0011others(7): Show | a0001c0003t0002g0009 a0001c0003t0002g0012 a0001c0003t0002g0013 others(70): Show |
76 | 394 | 0.1929 | -43 | c.*38 others(54): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 2715 | chr6 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23395102 | GGGAGGCT others(36): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00609.hp1 others(46): Show |
a0001a0003a0004others(4): Show | a0001c0004a0003c0005a0003c0012others(5): Show | a0001c0004t0002a0003c0005t0001a0003c0005t0004others(10): Show | a0001c0004t0002g0251 a0003c0005t0001g0005 a0003c0005t0001g0033 others(45): Show |
49 | 376 | 0.1303 | -43 | c.20+ others(60): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23395146 | GGAGGCTG others(36): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00738.hp1 others(23): Show |
a0001a0002a0005others(3): Show | a0001c0002a0001c0003a0001c0006others(9): Show | a0001c0002t0003a0001c0003t0001a0001c0003t0008others(11): Show | a0001c0002t0003g0026 a0001c0002t0003g0070 a0001c0003t0001g0021 others(23): Show |
26 | 374 | 0.0695 | -43 | c.20+ others(60): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133669030 | TCACCTTC others(36): Show |
T | intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0119 | 1 | 260 | 0.0038 | -43 | c.249 others(62): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133680730 | CCTCCAGA others(36): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02615.hp1 others(2): Show |
a0001a0003 | a0001c0033a0001c0051a0001c0052others(1): Show | a0001c0033t0001a0001c0033t0002a0001c0051t0001others(2): Show | a0001c0033t0001g0146 a0001c0033t0002g0030 a0001c0051t0001g0033 others(2): Show |
5 | 260 | 0.0192 | -43 | c.216 others(62): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 17/20 | chr9 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148449030 | TGTGTTGC others(36): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0302 | 1 | 320 | 0.0031 | -43 | c.386 others(60): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | chr6 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141424 | GGACCTTG others(36): Show |
G | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 402 | 0.0025 | -43 | c.*24 others(54): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2358 | chr17 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38819967 | CTGAGTTA others(36): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0368 | 1 | 370 | 0.0027 | -43 | c.-40 others(54): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 3751 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38938522 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01361.hp1 HG02027.hp1 others(10): Show |
a0001a0006 | a0001c0002a0006c0023 | a0001c0002t0004a0006c0023t0004 | a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 others(10): Show |
13 | 309 | 0.0421 | -43 | c.488 others(60): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCRIB_chr8_143785925_143820773 | 143799760 | CTAGAAAG others(36): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02647.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0011a0001c0013others(4): Show | a0001c0001t0001a0001c0011t0001a0001c0013t0001others(4): Show | a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 others(9): Show |
17 | 386 | 0.0440 | -43 | c.360 others(62): Show |
SCRIB | ENSG00000180900.20 | transcript | ENST00000356994.7 | protein_coding | 24/36 | chr8 | TogoVar | |||||||
SCRIB_chr8_143785925_143820773 | 143799793 | GACGTGGG others(36): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0160 | 1 | 386 | 0.0026 | -43 | c.360 others(62): Show |
SCRIB | ENSG00000180900.20 | transcript | ENST00000356994.7 | protein_coding | 24/36 | chr8 | TogoVar | |||||||
SEC14L1_chr17_77135969_77222101 | 77216175 | AGTAGGTA others(36): Show |
A | 3_prime_UTR_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0048 | 1 | 353 | 0.0028 | -43 | c.*21 others(54): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2158 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L3_chr22_30454229_30477017 | 30454868 | ACATAATA others(36): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 NA18941.hp2 NA18971.hp2 others(6): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0005 a0004c0004t0001g0007 |
9 | 451 | 0.0200 | -43 | c.*51 others(54): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4360 | chr22 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122992888 | CAGGCAGC others(36): Show |
C | intron_variant | MODIFIER | HG02965.hp2 NA19030.hp1 |
a0008a0014 | a0008c0011a0014c0018 | a0008c0011t0003a0014c0018t0001 | a0008c0011t0003g0181 a0014c0018t0001g0180 |
2 | 288 | 0.0069 | -43 | c.-38 others(62): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101143515 | GAGAAAGA others(36): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0016a0001c0001t0031others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 others(27): Show |
31 | 250 | 0.1240 | -43 | c.*60 others(54): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4269 | chr7 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739442 | TGGGAAGT others(36): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0112 | 1 | 444 | 0.0023 | -43 | c.-34 others(54): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3428 | chr17 | TogoVar |