| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| WWOX_chr16_78094654_79217667 | 78259447 | CTGCCGAC others(2282): Show |
C | intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0066 | 1 | 142 | 0.0070 | -2289 | c.516 others(19): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ARK2N_chr18_46169034_46271992 | 46193346 | ATGGCATG others(2280): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072a0001c0001t0007g0073a0001c0001t0007g0074 | 3 | 320 | 0.0094 | -2287 | c.-71 others(19): Show |
ARK2N | ENSG00000152242.11 | transcript | ENST00000615052.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ANGPTL6_chr19_10087338_10107678 | 10101606 | AAGACCAG others(2278): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG00099.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0187a0001c0001t0004g0188 | 2 | 462 | 0.0043 | -2285 | c.-13 others(13): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
| PPAN_chr19_10101362_10117012 | 10101606 | AAGACCAG others(2278): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 442 | 0.0045 | -2285 | c.-47 others(11): Show |
PPAN | ENSG00000130810.20 | transcript | ENST00000253107.12 | protein_coding | 4755 | chr19 | TogoVar | |||||||
| PNLIPRP3_chr10_116422847_116482957 | 116480674 | CTGTCAGG others(2276): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0242 | 1 | 288 | 0.0035 | -2283 | c.*35 others(11): Show |
PNLIPRP3 | ENSG00000203837.5 | transcript | ENST00000369230.4 | protein_coding | 2718 | chr10 | TogoVar | |||||||
| NALCN_chr13_101048776_101421508 | 101241792 | CCATCCTT others(2274): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(73): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0040others(73): Show | 76 | 176 | 0.4318 | -2281 | c.126 others(19): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 11/43 | chr13 | TogoVar | |||||||
| PXDNL_chr8_51314577_51814445 | 51533462 | TTAAAGTT others(2274): Show |
T | intron_variant | MODIFIER | HG03669.hp1 HG03669.hp2 NA18956.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0011a0002c0021a0003c0003others(1): Show | a0001c0011t0002a0002c0021t0002a0003c0003t0001others(1): Show | a0001c0011t0002g0100a0002c0021t0002g0092a0003c0003t0001g0021others(2): Show | 5 | 122 | 0.0410 | -2281 | c.380 others(19): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
| ARID5B_chr10_61896699_62101944 | 61915592 | TGGAGGGA others(2273): Show |
T | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0108 | 1 | 242 | 0.0041 | -2280 | c.276 others(19): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 113044263 | TATGAAAT others(2273): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01257.hp2 |
a0001a0003a0012 | a0001c0024a0003c0002a0012c0022 | a0001c0024t0002a0003c0002t0001a0012c0022t0001 | a0001c0024t0002g0024a0003c0002t0001g0021a0012c0022t0001g0013 | 3 | 80 | 0.0375 | -2280 | c.918 others(19): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | |||||||
| SPATA17_chr1_217626344_217876696 | 217675515 | TGTGGCTG others(2273): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0136 | 1 | 252 | 0.0040 | -2280 | c.291 others(17): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GTPBP2_chr6_43615494_43634264 | 43630692 | GAGATCAC others(2272): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 382 | 0.0026 | -2279 | c.-38 others(11): Show |
GTPBP2 | ENSG00000172432.19 | transcript | ENST00000307126.10 | protein_coding | 1429 | chr6 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744812 | GCCCGGGG others(2271): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0072a0001c0001t0011g0073a0001c0001t0011g0112 | 3 | 366 | 0.0082 | -2278 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 253676 | GTTACTAC others(2271): Show |
G | intron_variant | MODIFIER | HG02738.hp1 NA19079.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0109a0001c0002t0002g0038 | 2 | 133 | 0.0150 | -2278 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1396013 | TCTCCTGA others(2270): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02647.hp2 others(6): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0024others(6): Show | a0001c0002t0001g0015a0001c0002t0022g0034a0001c0003t0024g0003others(6): Show | 9 | 40 | 0.2250 | -2277 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| OR56B1_chr11_5731448_5743523 | 5738857 | CCATTAAA others(2270): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(178): Show |
a0001a0005a0007others(2): Show | a0001c0001a0005c0008a0007c0010others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0000a0001c0001t0005g0000a0001c0001t0006g0000others(8): Show | 181 | 450 | 0.4022 | -2277 | c.*13 others(11): Show |
OR56B1 | ENSG00000181023.8 | transcript | ENST00000317121.6 | protein_coding | 335 | chr11 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(2269): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 366 | 0.0027 | -2276 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| TANC1_chr2_158963640_159237659 | 159102712 | CTTTTTTT others(2269): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0006 | a0006c0006 | a0006c0006t0014 | a0006c0006t0014g0140 | 1 | 258 | 0.0039 | -2276 | c.259 others(17): Show |
TANC1 | ENSG00000115183.15 | transcript | ENST00000263635.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ATXN2_chr12_111447214_111604315 | 111539922 | AACCTATG others(2268): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 298 | 0.0034 | -2275 | c.571 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | |||||||
| PLA2G5_chr1_20065194_20096911 | 20081920 | CAGGCACC others(2267): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0149a0001c0001t0013g0042a0001c0001t0013g0148 | 4 | 430 | 0.0093 | -2274 | c.-10 others(16): Show |
PLA2G5 | ENSG00000127472.11 | transcript | ENST00000375108.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
| TANC1_chr2_158963640_159237659 | 159102712 | CTTTTTTT others(2267): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01975.hp2 |
a0004a0007 | a0004c0004a0007c0035 | a0004c0004t0003a0007c0035t0002 | a0004c0004t0003g0105a0007c0035t0002g0089 | 2 | 258 | 0.0078 | -2274 | c.259 others(17): Show |
TANC1 | ENSG00000115183.15 | transcript | ENST00000263635.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PRR5_chr22_44697204_44742681 | 44739366 | ATTGGGGG others(2266): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00597.hp2 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(10): Show | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0018others(83): Show | 90 | 442 | 0.2036 | -2273 | c.*21 others(11): Show |
PRR5 | ENSG00000186654.21 | transcript | ENST00000336985.11 | protein_coding | 1686 | chr22 | TogoVar | |||||||
| TANC1_chr2_158963640_159237659 | 159102712 | CTTTTTTT others(2266): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(14): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0004a0004c0033others(2): Show | a0001c0001t0006a0004c0004t0003a0004c0033t0015others(2): Show | a0001c0001t0006g0214a0004c0004t0003g0021a0004c0004t0003g0022others(14): Show | 17 | 258 | 0.0659 | -2273 | c.259 others(17): Show |
TANC1 | ENSG00000115183.15 | transcript | ENST00000263635.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| TANC1_chr2_158963640_159237659 | 159102712 | CTTTTTTT others(2265): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0007 | a0007c0012 | a0007c0012t0002 | a0007c0012t0002g0023 | 1 | 258 | 0.0039 | -2272 | c.259 others(17): Show |
TANC1 | ENSG00000115183.15 | transcript | ENST00000263635.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1013801 | GCGTGTGT others(2264): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | -2271 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | |||||||
| NCOR2_chr12_124319415_124572612 | 124529164 | AGCGAAAC others(2264): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0032 | a0001c0032t0002 | a0001c0032t0002g0078 | 1 | 234 | 0.0043 | -2271 | c.-11 others(19): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 2/48 | chr12 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1400588 | ATCCTCCA others(2263): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -2270 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| TANC1_chr2_158963640_159237659 | 159102287 | TTATTTGT others(2262): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(82): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0010others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0003g0011a0001c0001t0003g0102a0001c0001t0003g0208others(82): Show | 85 | 258 | 0.3295 | -2269 | c.259 others(17): Show |
TANC1 | ENSG00000115183.15 | transcript | ENST00000263635.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ARHGEF38_chr4_105547620_105685914 | 105575828 | AGGTGAGA others(2261): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0113 | 1 | 186 | 0.0054 | -2268 | c.197 others(19): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | chr4 | TogoVar | |||||||
| ARHGEF38_chr4_105547620_105685914 | 105578160 | TATCTTGA others(2261): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0113 | 1 | 186 | 0.0054 | -2268 | c.197 others(18): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | chr4 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1343269 | CTTTTCCC others(2261): Show |
C | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 190 | 0.0053 | -2268 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 2824647 | GGAGAATT others(2259): Show |
G | intron_variant | MODIFIER | HG02698.hp1 HG03927.hp1 HG04199.hp1 |
a0001a0002 | a0001c0002a0001c0010a0002c0011 | a0001c0002t0116a0001c0010t0113a0002c0011t0028 | a0001c0002t0116g0214a0001c0010t0113g0062a0002c0011t0028g0129 | 3 | 218 | 0.0138 | -2266 | c.80+ others(17): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| TMEM135_chr11_87032934_87333824 | 87164583 | TTGGTAGC others(2259): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp1 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0001 | a0001c0001t0007g0052a0002c0002t0001g0051a0002c0002t0001g0054others(1): Show | 4 | 274 | 0.0146 | -2266 | c.462 others(17): Show |
TMEM135 | ENSG00000166575.17 | transcript | ENST00000305494.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343611 | TTTTCCCC others(2258): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 190 | 0.0053 | -2265 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3091965 | CGCAGAGC others(2256): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0044 | 1 | 340 | 0.0029 | -2263 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CRCP_chr7_66109847_66159568 | 66124716 | CTCCATAC others(2255): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0177a0001c0001t0003g0012a0001c0001t0003g0013others(41): Show | 46 | 380 | 0.1211 | -2262 | c.9-2 others(12): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| PCSK5_chr9_75885673_76367975 | 76304530 | CGCCCCTA others(2254): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG02280.hp2 HG02572.hp1 others(5): Show |
a0002a0014a0025others(4): Show | a0002c0084a0002c0097a0014c0022others(5): Show | a0002c0084t0011a0002c0097t0002a0014c0022t0016others(5): Show | a0002c0084t0011g0092a0002c0097t0002g0148a0014c0022t0016g0048others(5): Show | 8 | 166 | 0.0482 | -2261 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15931641 | CGAGGAGA others(2253): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0375 | 1 | 386 | 0.0026 | -2260 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2374471 | ACTCACGC others(2250): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02055.hp1 HG03710.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0003a0005c0008t0006 | a0001c0001t0001g0012a0001c0001t0001g0039a0001c0001t0001g0044others(2): Show | 5 | 50 | 0.1000 | -2257 | c.286 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
| DOCK8_chr9_209865_470255 | 320095 | AAACACTC others(2250): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00609.hp2 others(37): Show |
a0001a0002a0007others(10): Show | a0001c0002a0002c0005a0002c0007others(28): Show | a0001c0002t0001a0002c0005t0001a0002c0007t0001others(28): Show | a0001c0002t0001g0043a0001c0002t0001g0050a0002c0005t0001g0096others(37): Show | 40 | 256 | 0.1563 | -2257 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195782687 | CGGTGACA others(2249): Show |
C | conservative_inframe_deletion | MODERATE | HG02451.hp2 | a0072 | a0072c0173 | a0072c0173t0004 | a0072c0173t0004g0225 | 1 | 249 | 0.0040 | -2256 | c.663 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9004/16756 | 6637/16239 | 2213/5412 | chr3 | TogoVar | |||
| SMYD3_chr1_245744347_246512279 | 245974701 | CAGGGAAA others(2249): Show |
C | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 150 | 0.0067 | -2256 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| GLI3_chr7_41955949_42242209 | 42050893 | AACCAATC others(2247): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0006 | a0006c0010 | a0006c0010t0007 | a0006c0010t0007g0042 | 1 | 158 | 0.0063 | -2254 | c.474 others(17): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 4/14 | chr7 | TogoVar | |||||||
| ASTN2_chr9_116418112_117420057 | 116613289 | CCAGAGGT others(2243): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0052 | 1 | 102 | 0.0098 | -2250 | c.335 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
| RFPL4AL1_chr19_55764118_55778420 | 55772717 | CGACACTG others(2242): Show |
C | frameshift_variant others(4): Show |
HIGH | HG01993.hp2 | a0000 | a0000c0029 | a0000c0029t0007 | a0000c0029t0007g0001 | 1 | 477 | 0.0021 | -2249 | c.403 others(9): Show |
p.Asp others(5): Show |
RFPL4AL1 | ENSG00000229292.2 | transcript | ENST00000341750.5 | protein_coding | 3/3 | 470/1172 | 403/864 | 135/287 | chr19 | TogoVar | |||
| EFCAB6_chr22_43523778_43817305 | 43675637 | ATTGTTAT others(2240): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0021 | a0021c0036 | a0021c0036t0001 | a0021c0036t0001g0138 | 1 | 290 | 0.0035 | -2247 | c.141 others(18): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 13/31 | chr22 | TogoVar | |||||||
| OPHN1_chrX_68037344_68438495 | 68325581 | CTTTTGGA others(2238): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | 155 | 0.1548 | -2245 | c.155 others(19): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
| ESR1_chr6_151802682_152108274 | 152068854 | CACTGCCT others(2237): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0001g0063others(83): Show | 87 | 250 | 0.3480 | -2244 | c.136 others(19): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| GPR87_chr3_151289086_151321820 | 151312516 | GGACTTGG others(2235): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0155 | 1 | 446 | 0.0022 | -2242 | c.-99 others(17): Show |
GPR87 | ENSG00000138271.6 | transcript | ENST00000260843.5 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
| MED12L_chr3_151080664_151441653 | 151312516 | GGACTTGG others(2235): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0010 | a0001c0010t0044 | a0001c0010t0044g0095 | 1 | 280 | 0.0036 | -2242 | c.225 others(21): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | chr3 | TogoVar | |||||||
| TMBIM4_chr12_66130846_66174996 | 66133855 | TGAAAATG others(2234): Show |
T | splice_region_variant | LOW | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(222): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(160): Show | 225 | 352 | 0.6392 | -2241 | c.*18 others(11): Show |
TMBIM4 | ENSG00000155957.19 | transcript | ENST00000358230.8 | protein_coding | 7/7 | chr12 | TogoVar |