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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIMC1_chr5_176233424_176350989 | 176305290 | C | CCAGCCAC others(751): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 a0001c0001t0001g0191 |
2 | 360 | 0.0056 | 758 | c.173 others(777): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(751): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0045 | 1 | 132 | 0.0076 | 758 | c.227 others(777): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(751): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 340 | 0.0029 | 758 | c.*17 others(777): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGAGTG others(751): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 4 | 420 | 0.0095 | 758 | c.*35 others(769): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628871 | C | CAGGGGGT others(751): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0109 | 1 | 352 | 0.0028 | 758 | c.299 others(775): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273495 | G | GACCGCCA others(751): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 392 | 0.0026 | 758 | c.228 others(777): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(751): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0299 | 1 | 314 | 0.0032 | 758 | c.189 others(773): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(751): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 344 | 0.0029 | 758 | c.327 others(775): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507363 | C | CATACGTA others(751): Show |
intron_variant | MODIFIER | HG02970.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0033 | a0001c0001t0028g0259 a0001c0001t0033g0260 |
2 | 388 | 0.0052 | 758 | c.-23 others(775): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TSNAXIP1_chr16_67801889_67833068 | 67809198 | G | GGTGGCTC others(751): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 256 | 0.0039 | 758 | c.47+ others(773): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TSNAXIP1_chr16_67801889_67833068 | 67809198 | G | GGTGGCTC others(751): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 256 | 0.0039 | 758 | c.47+ others(773): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TSNAXIP1_chr16_67801889_67833068 | 67809198 | G | GGTGGCTC others(751): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(126): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0011a0005c0013others(3): Show | a0001c0001t0001a0004c0011t0001a0005c0013t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(86): Show |
129 | 256 | 0.5039 | 758 | c.47+ others(773): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870175 | C | CACACACA others(751): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 338 | 0.0030 | 758 | c.*35 others(777): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(751): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0216 | 1 | 238 | 0.0042 | 758 | c.392 others(775): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024555 | G | GCTATGAT others(751): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 144 | 0.0069 | 758 | c.427 others(777): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(751): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0057 | a0001c0001t0021g0285 a0001c0001t0021g0287 a0001c0001t0057g0286 |
3 | 302 | 0.0099 | 758 | c.-1- others(775): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613137 | C | CCCTTCCC others(751): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0080 | 1 | 322 | 0.0031 | 758 | c.4-1 others(771): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613137 | C | CCCTTCCC others(751): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0010 | a0010c0015 | a0010c0015t0010 | a0010c0015t0010g0094 | 1 | 322 | 0.0031 | 758 | c.4-1 others(771): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(752): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 249 | 0.0040 | 759 | c.49- others(774): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1131270 | C | CCTTTGCA others(752): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0016 | a0001c0001t0018g0111 a0001c0003t0016g0163 |
2 | 337 | 0.0059 | 759 | c.62- others(774): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173269 | A | ACATCACC others(752): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0262 | 1 | 337 | 0.0030 | 759 | c.61+ others(774): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126251636 | T | TGATGGGA others(752): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0007 | 1 | 252 | 0.0040 | 759 | c.260 others(778): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126251636 | T | TGATGGGA others(752): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 252 | 0.0040 | 759 | c.260 others(778): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126251636 | T | TGATGGGA others(752): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(63): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0004others(19): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(42): Show | a0001c0002t0001g0209 a0001c0002t0001g0217 a0001c0002t0002g0031 others(63): Show |
66 | 252 | 0.2619 | 759 | c.260 others(778): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(752): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001a0002 | a0001c0005a0002c0080 | a0001c0005t0009a0002c0080t0007 | a0001c0005t0009g0030 a0002c0080t0007g0184 |
2 | 228 | 0.0088 | 759 | c.259 others(780): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(752): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0007 | a0007c0062 | a0007c0062t0003 | a0007c0062t0003g0009 | 1 | 228 | 0.0044 | 759 | c.259 others(780): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(752): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0075 | a0002c0075t0051 | a0002c0075t0051g0183 | 1 | 228 | 0.0044 | 759 | c.259 others(780): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980430 | C | CTGCCCGG others(752): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0254 | 1 | 268 | 0.0037 | 759 | c.604 others(774): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(752): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 242 | 0.0041 | 759 | c.927 others(776): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(752): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 242 | 0.0041 | 759 | c.927 others(776): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91296197 | C | CTTTTTTT others(752): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 358 | 0.0028 | 759 | c.599 others(774): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(752): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 759 | c.*36 others(770): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(752): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0007 | a0007c0004 | a0007c0004t0003 | a0007c0004t0003g0166 | 1 | 338 | 0.0030 | 759 | c.300 others(776): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(752): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0052 | 1 | 58 | 0.0172 | 759 | c.234 others(780): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473793 | A | ACCTTCCA others(752): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0090 | 1 | 242 | 0.0041 | 759 | c.266 others(776): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(752): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0163 | 1 | 242 | 0.0041 | 759 | c.266 others(776): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(752): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18906.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0034a0002c0002t0011 | a0001c0001t0003g0236 a0001c0001t0034g0128 a0002c0002t0011g0002 |
3 | 242 | 0.0124 | 759 | c.266 others(776): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(752): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0256 | 1 | 324 | 0.0031 | 759 | c.127 others(778): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17432054 | A | ATTTGCCC others(752): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0025 | a0001c0001t0010g0198 a0001c0001t0010g0270 a0001c0001t0010g0271 others(1): Show |
4 | 324 | 0.0124 | 759 | c.127 others(778): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132914457 | C | CCCCGAGG others(752): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0123 | 1 | 246 | 0.0041 | 759 | c.212 others(778): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133808 | C | CCACCTCC others(752): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 223 | 0.0045 | 759 | c.-42 others(770): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3953 | chr19 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(752): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0015 | a0015c0165 | a0015c0165t0002 | a0015c0165t0002g0033 | 1 | 252 | 0.0040 | 759 | c.118 others(778): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400791 | T | TCACCACC others(752): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18990.hp2 |
a0002a0003 | a0002c0005a0003c0001 | a0002c0005t0001a0003c0001t0001 | a0002c0005t0001g0180 a0003c0001t0001g0131 |
2 | 256 | 0.0078 | 759 | c.323 others(778): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(752): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 198 | 0.0051 | 759 | c.105 others(778): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(752): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 198 | 0.0051 | 759 | c.105 others(778): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(752): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 198 | 0.0051 | 759 | c.105 others(778): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(752): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0178 a0001c0001t0001g0179 |
3 | 198 | 0.0152 | 759 | c.105 others(778): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(752): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 198 | 0.0051 | 759 | c.105 others(778): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(752): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 198 | 0.0051 | 759 | c.105 others(778): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377945 | T | TGCTGTGT others(752): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0224 | 1 | 384 | 0.0026 | 759 | c.215 others(776): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |