| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(877): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 376 | 0.0027 | 884 | c.-79 others(893): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | ||||||
| ITGB1BP1_chr2_9398475_9428528 | 9406031 | G | GTGTCACT others(877): Show |
3_prime_UTR_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0140 | a0001c0001t0140g0246 | 1 | 276 | 0.0036 | 884 | c.*80 others(893): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 802 | chr2 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(877): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 312 | 0.0032 | 884 | c.-41 others(899): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(877): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017 | 1 | 114 | 0.0088 | 884 | c.56- others(901): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(877): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0265 | 1 | 284 | 0.0035 | 884 | c.126 others(901): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(877): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0266 | 1 | 284 | 0.0035 | 884 | c.126 others(901): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
| LDLRAD4_chr18_13213760_13657751 | 13262129 | C | CGTGGGGG others(877): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0065a0001c0001t0002g0056a0001c0001t0002g0101others(7): Show | 10 | 178 | 0.0562 | 884 | c.-46 others(905): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(877): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0195 | 1 | 290 | 0.0035 | 884 | c.129 others(901): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(877): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG03098.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0004a0006c0007t0003 | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0004g0082others(3): Show | 6 | 288 | 0.0208 | 884 | c.483 others(899): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCCTCCTC others(877): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 318 | 0.0031 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0212 | 1 | 318 | 0.0031 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0146 | 1 | 318 | 0.0031 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(121): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(89): Show | 124 | 318 | 0.3899 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 318 | 0.0031 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 318 | 0.0031 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 318 | 0.0031 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(877): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0204 | 1 | 318 | 0.0031 | 884 | c.-49 others(895): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(877): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0039 | 1 | 272 | 0.0037 | 884 | c.250 others(899): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(877): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 324 | 0.0031 | 884 | c.141 others(901): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535823 | G | GGGTGGGT others(877): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 324 | 0.0031 | 884 | c.140 others(901): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NT5C1A_chr1_39646229_39677107 | 39664510 | T | TCTCCTCT others(877): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 326 | 0.0031 | 884 | c.433 others(901): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841612 | A | AGCATCTC others(877): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 242 | 0.0041 | 884 | c.361 others(903): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(877): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 332 | 0.0030 | 884 | c.274 others(901): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(877): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 360 | 0.0028 | 884 | c.*35 others(895): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(877): Show |
downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 360 | 0.0028 | 884 | c.*35 others(895): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(877): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 360 | 0.0028 | 884 | c.*35 others(895): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | ||||||
| PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(877): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01346.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0028 | 7 | 426 | 0.0164 | 884 | c.273 others(899): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370338 | G | GCTACCCC others(877): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0005 | a0002c0005t0013 | a0002c0005t0013g0024 | 1 | 376 | 0.0027 | 884 | c.*16 others(895): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(877): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0115 | 1 | 300 | 0.0033 | 884 | c.117 others(901): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PPP2R2D_chr10_131896008_131964834 | 131917146 | G | GTGTAGGG others(877): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0071 | 1 | 394 | 0.0025 | 884 | c.100 others(903): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PRRG1_chrX_37344364_37462291 | 37383312 | T | TGGATCAA others(877): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 | 1 | 216 | 0.0046 | 884 | c.-41 others(903): Show |
PRRG1 | ENSG00000130962.18 | transcript | ENST00000378628.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(877): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0081 | 1 | 220 | 0.0046 | 884 | c.24+ others(901): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(877): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0013 | a0001c0001t0007g0176a0001c0001t0008g0177a0001c0001t0013g0178others(1): Show | 4 | 220 | 0.0182 | 884 | c.24+ others(901): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114133722 | T | TCCCCCCC others(877): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 67 | 0.0149 | 884 | c.-12 others(895): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1100 | chr13 | TogoVar | ||||||
| RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(877): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0276 | 1 | 304 | 0.0033 | 884 | c.66+ others(899): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(877): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 304 | 0.0033 | 884 | c.66+ others(899): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(877): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 304 | 0.0033 | 884 | c.66+ others(899): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(877): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 304 | 0.0033 | 884 | c.66+ others(899): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(877): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 304 | 0.0033 | 884 | c.66+ others(899): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(877): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0066 | 1 | 133 | 0.0075 | 884 | c.351 others(903): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560858 | G | GCCCTGAG others(877): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106a0001c0001t0003g0107 | 2 | 180 | 0.0111 | 884 | c.637 others(903): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168561357 | C | CGGAGGAG others(877): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0062 | 1 | 180 | 0.0056 | 884 | c.637 others(903): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SPAAR_chr9_35904490_35916686 | 35913803 | C | CTGTATGT others(877): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0001 | 1 | 420 | 0.0024 | 884 | c.*31 others(895): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2118 | chr9 | TogoVar | ||||||
| TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(877): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 388 | 0.0026 | 884 | c.*22 others(895): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | ||||||
| TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(877): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 444 | 0.0023 | 884 | c.227 others(903): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
| TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(877): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0300 | 1 | 314 | 0.0032 | 884 | c.189 others(901): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM242_chr6_157284025_157328519 | 157311862 | G | GCTCACCC others(877): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0003a0001c0004t0009g0054 | 3 | 344 | 0.0087 | 884 | c.327 others(901): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(877): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0013 | a0001c0013t0021 | a0001c0013t0021g0034 | 1 | 244 | 0.0041 | 884 | c.537 others(901): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | ||||||
| TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(877): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 360 | 0.0028 | 884 | c.*24 others(895): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238870478 | A | ACCCCACA others(877): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 338 | 0.0030 | 884 | c.*35 others(903): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |