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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POTEG_chr14_19397486_19439341 | 19432367 | TATATATA others(57): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0011 | a0011c0044 | a0011c0044t0008 | a0011c0044t0008g0106 | 1 | 111 | 0.0090 | -64 | c.521 others(81): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
POTEG_chr14_19397486_19439341 | 19432403 | TACACACA others(57): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG03654.hp2 HG03834.hp1 |
a0006a0007a0028 | a0006c0005a0007c0010a0028c0032 | a0006c0005t0005a0007c0010t0009a0028c0032t0005 | a0006c0005t0005g0024a0007c0010t0009g0017a0028c0032t0005g0004 | 3 | 111 | 0.0270 | -64 | c.521 others(81): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
POU6F1_chr12_51181936_51223062 | 51197051 | GGCTGGAT others(57): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp1 HG01069.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0075a0001c0001t0001g0084a0001c0001t0001g0086others(29): Show | 33 | 440 | 0.0750 | -64 | c.847 others(79): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
PPM1L_chr3_160751231_161083902 | 160814499 | ATATGTAT others(57): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01257.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023a0001c0001t0025 | a0001c0001t0003g0178a0001c0001t0003g0192a0001c0001t0023g0168others(1): Show | 4 | 206 | 0.0194 | -64 | c.399 others(83): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP1R12C_chr19_55085918_55122637 | 55097522 | TCGCAGTT others(57): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(261): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(183): Show | 264 | 390 | 0.6769 | -64 | c.951 others(81): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
PPP1R21_chr2_48435766_48520386 | 48469379 | GCATATAT others(57): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0019a0001c0005t0030a0001c0005t0036others(1): Show | a0001c0005t0019g0010a0001c0005t0019g0013a0001c0005t0019g0014others(5): Show | 8 | 372 | 0.0215 | -64 | c.898 others(81): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | chr2 | TogoVar | ||||||
PRB3_chr12_11260914_11274707 | 11267841 | AGGCGGGG others(57): Show |
A | frameshift_variant | HIGH | NA19072.hp1 | a0000 | a0000c0038 | a0000c0038t0001 | a0000c0038t0001g0057 | 1 | 443 | 0.0023 | -64 | c.344 others(71): Show |
p.Pro others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 445/1227 | 344/1056 | 115/351 | chr12 | TogoVar | ||
PRKG1_chr10_51069487_52303350 | 51614918 | TCTTTGAA others(57): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0003a0001c0006t0007 | a0001c0001t0001g0002a0001c0002t0003g0030a0001c0006t0007g0050 | 3 | 64 | 0.0469 | -64 | c.592 others(85): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18752501 | AATATATA others(57): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp1 HG03209.hp2 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0031a0006c0020 | a0001c0001t0003a0001c0001t0012a0001c0001t0026others(2): Show | a0001c0001t0003g0147a0001c0001t0012g0202a0001c0001t0026g0148others(2): Show | 5 | 228 | 0.0219 | -64 | c.217 others(85): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | ||||||
PTGES3L_chr17_42963103_42985080 | 42967404 | TATATAAA others(57): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01074.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0022others(4): Show | 8 | 336 | 0.0238 | -64 | c.*16 others(75): Show |
PTGES3L | ENSG00000267060.7 | transcript | ENST00000591916.7 | protein_coding | 698 | chr17 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61738256 | TTTTATAT others(57): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0087 | 1 | 94 | 0.0106 | -64 | c.86- others(81): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXDN_chr2_1626887_1749515 | 1711568 | TCTCCACC others(57): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02717.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0014others(1): Show | a0001c0002t0003a0001c0003t0008a0001c0014t0013others(1): Show | a0001c0002t0003g0131a0001c0003t0008g0305a0001c0014t0013g0145others(1): Show | 4 | 322 | 0.0124 | -64 | c.201 others(83): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132684989 | ACACAGGC others(57): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp1 NA18966.hp1 NA19063.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0031a0001c0002t0002g0065a0001c0002t0002g0068others(1): Show | 4 | 350 | 0.0114 | -64 | c.-26 others(75): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2597 | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132693561 | TAGTGAGC others(57): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0005 | a0001c0004t0004g0028a0001c0004t0005g0010 | 5 | 350 | 0.0143 | -64 | c.237 others(81): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597791 | TATAACAT others(57): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0099 | 1 | 220 | 0.0046 | -64 | c.24+ others(81): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RASA2_chr3_141482027_141620344 | 141610381 | TATTATAT others(57): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0215a0001c0002t0003g0216 | 2 | 280 | 0.0071 | -64 | c.251 others(81): Show |
RASA2 | ENSG00000155903.14 | transcript | ENST00000286364.9 | protein_coding | 23/23 | chr3 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113990984 | CACGGACA others(57): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02738.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(2): Show | 5 | 67 | 0.0746 | -64 | c.224 others(83): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113991143 | TCAGGCGT others(57): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02738.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(2): Show | 5 | 67 | 0.0746 | -64 | c.224 others(83): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | ||||||
RASGEF1A_chr10_43189535_43272065 | 43210918 | CCCTTGCA others(57): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0030 | 1 | 350 | 0.0029 | -64 | c.-6- others(79): Show |
RASGEF1A | ENSG00000198915.12 | transcript | ENST00000395810.6 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
RBBP8NL_chr20_62405237_62432539 | 62424732 | CCCTCTAA others(57): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 432 | 0.0023 | -64 | c.-84 others(81): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 1/13 | chr20 | TogoVar | ||||||
RBM33_chr7_155639661_155786480 | 155673567 | TATACATA others(57): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG02647.hp2 NA18906.hp1 others(2): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0005a0001c0004t0084a0002c0001t0002 | a0001c0004t0005g0138a0001c0004t0005g0139a0001c0004t0005g0140others(2): Show | 5 | 306 | 0.0163 | -64 | c.171 others(79): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RBM33_chr7_155639661_155786480 | 155673584 | ATATATAT others(57): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0031a0001c0002t0053a0001c0002t0089others(2): Show | a0001c0002t0031g0092a0001c0002t0031g0094a0001c0002t0053g0090others(3): Show | 6 | 306 | 0.0196 | -64 | c.171 others(79): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RBM33_chr7_155639661_155786480 | 155673631 | CATATACA others(57): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02486.hp1 HG03195.hp2 others(4): Show |
a0002a0003 | a0002c0001a0002c0019a0003c0007 | a0002c0001t0001a0002c0019t0003a0003c0007t0022 | a0002c0001t0001g0015a0002c0001t0001g0017a0002c0001t0001g0075others(4): Show | 7 | 306 | 0.0229 | -64 | c.171 others(79): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RBMS3_chr3_29276071_30015386 | 29974995 | CGTTTCTA others(57): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0055a0001c0001t0019g0056 | 2 | 116 | 0.0172 | -64 | c.109 others(85): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RBMXL1_chr1_88974456_88997629 | 88993893 | CAGGGCTA others(57): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01071.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0076a0001c0001t0001g0181others(32): Show | 58 | 426 | 0.1362 | -64 | c.-17 others(75): Show |
RBMXL1 | ENSG00000213516.10 | transcript | ENST00000652648.1 | protein_coding | 1265 | chr1 | TogoVar | ||||||
RCHY1_chr4_75474033_75519403 | 75487551 | CATAATAT others(57): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0011a0001c0001t0006g0025a0001c0001t0006g0051others(3): Show | 10 | 406 | 0.0246 | -64 | c.657 others(81): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111422577 | CACATATA others(57): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0022 | a0002c0022t0003 | a0002c0022t0003g0249 | 1 | 288 | 0.0035 | -64 | c.140 others(81): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074216 | AAAGAAAG others(57): Show |
A | upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 304 | 0.0033 | -64 | c.-51 others(75): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4226 | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074220 | AAAGAAAG others(57): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG02027.hp1 others(13): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(1): Show | a0001c0001t0001g0157a0001c0001t0001g0177a0001c0001t0001g0286others(12): Show | 16 | 304 | 0.0526 | -64 | c.-51 others(75): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4222 | chrX | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 241087993 | TATACACA others(57): Show |
T | intron_variant | MODIFIER | HG01981.hp1 HG02451.hp2 HG03139.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0028a0001c0001t0001g0048others(6): Show | 9 | 112 | 0.0804 | -64 | c.175 others(83): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
RGSL1_chr1_182445146_182565597 | 182460164 | GTGTGTGT others(57): Show |
G | intron_variant | MODIFIER | HG02965.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0207 | 2 | 338 | 0.0059 | -64 | c.301 others(78): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130483616 | TACACAGT others(57): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0172 | 1 | 180 | 0.0056 | -64 | c.-3- others(79): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130535706 | CATATACA others(57): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0043 | a0001c0002t0001a0001c0043t0001 | a0001c0002t0001g0051a0001c0043t0001g0108 | 2 | 180 | 0.0111 | -64 | c.-21 others(85): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RNF150_chr4_140854807_141138469 | 140999941 | AAAAGAAG others(57): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 184 | 0.0054 | -64 | c.485 others(83): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80274589 | GGGGGTGA others(57): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0032 | a0032c0022 | a0032c0022t0006a0032c0022t0012 | a0032c0022t0006g0169a0032c0022t0012g0170 | 2 | 292 | 0.0069 | -64 | c.261 others(81): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RNFT2_chr12_116733315_116858631 | 116841830 | TATAAATA others(57): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 268 | 0.0037 | -64 | c.120 others(83): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RORA_chr15_60483284_61234302 | 60516173 | TTATATAT others(57): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01168.hp1 HG01169.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0013a0001c0001t0020others(14): Show | a0001c0001t0007g0057a0001c0001t0007g0113a0001c0001t0007g0115others(19): Show | 22 | 118 | 0.1864 | -64 | c.283 others(81): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60597569 | TATATACA others(57): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0040others(1): Show | a0001c0001t0012g0025a0001c0001t0020g0108a0001c0001t0040g0074others(1): Show | 4 | 118 | 0.0339 | -64 | c.197 others(83): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
RP1L1_chr8_10601349_10660143 | 10631322 | CGCACACA others(57): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0138 | a0138c0095 | a0138c0095t0019 | a0138c0095t0019g0005 | 1 | 414 | 0.0024 | -64 | c.-19 others(81): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 307219 | ACGGCAGG others(57): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0030others(107): Show | 110 | 133 | 0.8271 | -64 | c.351 others(83): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPS6KA2_chr6_166404364_166632251 | 166488188 | TAGTTGCT others(57): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0015 | a0001c0015t0010 | a0001c0015t0010g0041 | 1 | 244 | 0.0041 | -64 | c.907 others(79): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | ||||||
RSPH14_chr22_23054415_23146990 | 23130059 | AAAAGAAA others(57): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01192.hp2 HG02004.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0205a0001c0001t0001g0218others(11): Show | 14 | 314 | 0.0446 | -64 | c.421 others(81): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | ||||||
RSPO4_chr20_953452_1007311 | 959125 | GGCAGTGT others(57): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02109.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0023others(4): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0199others(13): Show | 20 | 376 | 0.0532 | -64 | c.*11 others(75): Show |
RSPO4 | ENSG00000101282.9 | transcript | ENST00000217260.9 | protein_coding | 5/5 | 1168 | chr20 | TogoVar | |||||
RSPO4_chr20_953452_1007311 | 959135 | TGGTGGGT others(57): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0277 | 1 | 376 | 0.0027 | -64 | c.*11 others(75): Show |
RSPO4 | ENSG00000101282.9 | transcript | ENST00000217260.9 | protein_coding | 5/5 | 1158 | chr20 | TogoVar | |||||
RTN4RL1_chr17_1929677_2030334 | 1933226 | GACAGGGG others(57): Show |
G | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0078 | 1 | 384 | 0.0026 | -64 | c.*32 others(75): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1450 | chr17 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34926492 | ACATATTT others(57): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 170 | 0.0059 | -64 | c.59- others(81): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237578693 | ACCCATTC others(57): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00609.hp2 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0031others(27): Show | a0001c0001t0003g0023a0001c0001t0004g0036a0001c0002t0031g0033others(27): Show | 30 | 100 | 0.3000 | -64 | c.359 others(83): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 29/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237656619 | CTCTTCAT others(57): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0001 | 1 | 100 | 0.0100 | -64 | c.812 others(81): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 53/104 | chr1 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133669136 | CTCTCCCT others(57): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0117 | 1 | 262 | 0.0038 | -64 | c.249 others(83): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65970993 | TGAGCTGC others(57): Show |
T | intron_variant | MODIFIER | NA18950.hp2 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0052 | 1 | 384 | 0.0026 | -64 | c.157 others(83): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |