| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TP53AIP1_chr11_128930370_128947871 | 128930574 | A | AGGGGTTA others(163): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 466 | 0.0022 | 170 | c.*50 others(181): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4795 | chr11 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930771 | C | CGGGGTTA others(163): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0001c0001t0021a0002c0002t0002 | a0001c0001t0015g0046a0001c0001t0021g0096a0002c0002t0002g0103others(1): Show | 4 | 466 | 0.0086 | 170 | c.*48 others(181): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4598 | chr11 | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1537046 | C | CAACCTCC others(163): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03453.hp1 HG03453.hp2 others(1): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0009others(1): Show | a0001c0001t0002a0002c0002t0001a0006c0009t0001others(1): Show | a0001c0001t0002g0021a0002c0002t0001g0006a0006c0009t0001g0123others(1): Show | 4 | 130 | 0.0308 | 170 | c.261 others(189): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TPO_chr2_1408463_1548673 | 1537046 | C | CAACCTCC others(163): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00673.hp1 others(14): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0004a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0009others(8): Show | a0001c0001t0001g0022a0001c0001t0001g0038a0001c0001t0001g0117others(13): Show | 17 | 130 | 0.1308 | 170 | c.261 others(189): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TPO_chr2_1408463_1548673 | 1537046 | C | CAACCTCC others(163): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0053 | 1 | 130 | 0.0077 | 170 | c.261 others(189): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TPSD1_chr16_1251069_1264008 | 1258683 | G | GCCCCCCT others(163): Show |
3_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0004 | a0004c0004 | a0004c0004t0078 | a0004c0004t0078g0011 | 1 | 270 | 0.0037 | 170 | c.*31 others(179): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 5/5 | 312 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
| TRERF1_chr6_42219931_42456926 | 42277905 | G | GAGGAAGA others(163): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0009 | a0009c0018 | a0009c0018t0030 | a0009c0018t0030g0146 | 1 | 180 | 0.0056 | 170 | c.-25 others(189): Show |
TRERF1 | ENSG00000124496.13 | transcript | ENST00000695948.1 | protein_coding | 4/17 | chr6 | TogoVar | ||||||
| TRIM49D2_chr11_89919064_89938063 | 89935371 | A | AAAAATAT others(163): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 256 | 0.0039 | 170 | c.*24 others(181): Show |
TRIM49D2 | ENSG00000233802.8 | transcript | ENST00000623787.3 | protein_coding | 2309 | chr11 | TogoVar | ||||||
| TRIML1_chr4_188134441_188152743 | 188151873 | A | AGTGGGGG others(163): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 228 | 0.0044 | 170 | c.*45 others(181): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4131 | chr4 | TogoVar | ||||||
| TRIOBP_chr22_37692048_37781556 | 37704380 | C | CACAGAAC others(163): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0014 | a0014c0031 | a0014c0031t0015 | a0014c0031t0015g0176 | 1 | 322 | 0.0031 | 170 | c.114 others(187): Show |
TRIOBP | ENSG00000100106.22 | transcript | ENST00000644935.1 | protein_coding | 3/23 | chr22 | TogoVar | ||||||
| TRPC4AP_chr20_34997404_35097807 | 35097525 | A | ACATATAC others(163): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 | 1 | 334 | 0.0030 | 170 | c.-47 others(181): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4719 | chr20 | TogoVar | ||||||
| TULP4_chr6_158307465_158516828 | 158331720 | C | CGTATATA others(163): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0046 | 1 | 268 | 0.0037 | 170 | c.252 others(189): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
| UNKL_chr16_1358205_1419704 | 1397426 | C | CCCCACCC others(163): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0008 | a0001c0008t0028 | a0001c0008t0028g0008 | 1 | 322 | 0.0031 | 170 | c.735 others(185): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466617 | A | AGGGAGGA others(163): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 271 | 0.0037 | 170 | c.*23 others(179): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 108 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466642 | A | AGGGAGGA others(163): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 NA18951.hp2 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 271 | 0.0185 | 170 | c.*25 others(179): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 133 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466755 | G | GGGGAGGG others(163): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 271 | 0.0037 | 170 | c.*37 others(179): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 246 | chrX | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 646444 | T | TCGGCTCC others(163): Show |
intron_variant | MODIFIER | HG01074.hp2 NA18747.hp2 NA18955.hp2 others(2): Show |
a0001 | a0001c0002a0001c0005a0001c0011 | a0001c0002t0001a0001c0002t0065a0001c0002t0077others(2): Show | a0001c0002t0001g0094a0001c0002t0065g0093a0001c0002t0077g0095others(2): Show | 5 | 232 | 0.0216 | 170 | c.608 others(187): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | ||||||
| VPS8_chr3_184807166_185057604 | 184895629 | C | CCCCCTCC others(163): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03239.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099a0001c0001t0002g0135a0001c0001t0002g0145 | 3 | 274 | 0.0110 | 170 | c.200 others(187): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| VPS8_chr3_184807166_185057604 | 184895629 | C | CCCCCTCC others(163): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100a0001c0001t0002g0104 | 2 | 274 | 0.0073 | 170 | c.200 others(187): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(163): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 340 | 0.0029 | 170 | c.856 others(187): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(163): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 340 | 0.0029 | 170 | c.856 others(187): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(163): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117a0001c0001t0001g0281a0001c0001t0001g0282others(5): Show | 8 | 340 | 0.0235 | 170 | c.856 others(187): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| WDR18_chr19_979345_999557 | 991717 | C | CGGGGCCT others(163): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 456 | 0.0022 | 170 | c.932 others(185): Show |
WDR18 | ENSG00000065268.11 | transcript | ENST00000585809.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| WDSUB1_chr2_159230798_159291703 | 159251111 | T | TAAAAATT others(163): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0058 | 1 | 252 | 0.0040 | 170 | c.113 others(189): Show |
WDSUB1 | ENSG00000196151.11 | transcript | ENST00000359774.9 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
| ZAN_chr7_100728595_100802797 | 100783803 | C | CACACACA others(163): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0286 | 1 | 308 | 0.0033 | 170 | c.662 others(187): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ZFAT_chr8_134472788_134718031 | 134534770 | G | GGAAGAGA others(163): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0002a0001c0028 | a0001c0002t0001a0001c0028t0001 | a0001c0002t0001g0020a0001c0002t0001g0021a0001c0002t0001g0229others(2): Show | 5 | 274 | 0.0183 | 170 | c.297 others(189): Show |
ZFAT | ENSG00000066827.16 | transcript | ENST00000377838.8 | protein_coding | 11/15 | chr8 | TogoVar | ||||||
| ZFR_chr5_32349350_32449740 | 32448298 | T | TTACCTGG others(163): Show |
upstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 382 | 0.0026 | 170 | c.-36 others(181): Show |
ZFR | ENSG00000056097.16 | transcript | ENST00000265069.13 | protein_coding | 3559 | chr5 | TogoVar | ||||||
| ZMAT4_chr8_40525590_40902826 | 40792639 | A | AAGGGGAG others(163): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 228 | 0.0044 | 170 | c.103 others(189): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| ZNF385D_chr3_21407218_21756210 | 21424301 | T | TTATATAT others(163): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03017.hp2 HG04204.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0004g0152a0001c0001t0005g0133a0001c0001t0005g0173others(3): Show | 6 | 256 | 0.0234 | 170 | c.853 others(185): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
| ZNF470_chr19_56562468_56587894 | 56572389 | T | TATATGTA others(163): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0097 | 1 | 420 | 0.0024 | 170 | c.61- others(185): Show |
ZNF470 | ENSG00000197016.12 | transcript | ENST00000330619.13 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF543_chr19_57315472_57335770 | 57319299 | T | TACATATA others(163): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0008 | a0003c0008t0019 | a0003c0008t0019g0149 | 1 | 460 | 0.0022 | 170 | c.-15 others(181): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1172 | chr19 | TogoVar | ||||||
| ZNF644_chr1_90910304_91027035 | 90950307 | G | GAGGGGAG others(163): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 314 | 0.0032 | 170 | c.45- others(185): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
| ZNF644_chr1_90910304_91027035 | 90950307 | G | GAGGGGAG others(163): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 314 | 0.0032 | 170 | c.45- others(185): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
| ZNF652_chr17_49284206_49367250 | 49320942 | T | TGGGTTCA others(163): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02895.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0033a0001c0001t0039others(3): Show | a0001c0001t0012g0044a0001c0001t0012g0045a0001c0001t0012g0046others(9): Show | 12 | 382 | 0.0314 | 170 | c.-25 others(189): Show |
ZNF652 | ENSG00000198740.9 | transcript | ENST00000430262.3 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| ZNF681_chr19_23734195_23763891 | 23761922 | T | TCCTTCCT others(163): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 394 | 0.0025 | 170 | c.-31 others(181): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3032 | chr19 | TogoVar | ||||||
| ZNF773_chr19_57494938_57513229 | 57507971 | T | TAAAAAAA others(163): Show |
3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0087 | 1 | 416 | 0.0024 | 170 | c.*56 others(179): Show |
ZNF773 | ENSG00000152439.13 | transcript | ENST00000282292.9 | protein_coding | 4/4 | 568 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| ZSCAN22_chr19_58321994_58347332 | 58326654 | T | TCACCCTC others(163): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | 170 | c.-51 others(179): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 339 | chr19 | TogoVar | ||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTATATAT others(163): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 400 | 0.0025 | 170 | c.532 others(185): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
| ZSWIM5_chr1_45011399_45211605 | 45044765 | A | ATAAATAT others(163): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 234 | 0.0043 | 170 | c.143 others(189): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
| ZSWIM5_chr1_45011399_45211605 | 45044796 | T | TATATAAA others(163): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG01358.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0059a0001c0002t0002g0040a0001c0002t0002g0041others(7): Show | 10 | 234 | 0.0427 | 170 | c.143 others(189): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
| AADAC_chr3_151809116_151833488 | 151820690 | T | TTTTTTTT others(164): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01978.hp1 HG01981.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0046a0001c0001t0002g0052others(2): Show | 8 | 440 | 0.0182 | 171 | c.431 others(186): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| AADAC_chr3_151809116_151833488 | 151820690 | T | TTTTTTTT others(164): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 440 | 0.0023 | 171 | c.431 others(186): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ABCA8_chr17_68862289_68960392 | 68958591 | A | ATATAATT others(164): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 274 | 0.0037 | 171 | c.-35 others(182): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3200 | chr17 | TogoVar | ||||||
| ABCB7_chrX_75046048_75161283 | 75140530 | A | AAAGAGAT others(164): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0018 | a0001c0003t0006g0220a0001c0003t0006g0221a0001c0003t0006g0222others(3): Show | 6 | 232 | 0.0259 | 171 | c.168 others(190): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1064155 | G | GCTGTTAC others(164): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0332 | 1 | 337 | 0.0030 | 171 | c.118 others(190): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1064949 | G | GCATGTTC others(164): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0313 | 1 | 337 | 0.0030 | 171 | c.118 others(190): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1118012 | G | GAGTCCTC others(164): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03491.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0013 | a0001c0001t0006g0077a0001c0001t0007g0306a0001c0001t0013g0049 | 3 | 337 | 0.0089 | 171 | c.246 others(188): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
| ACAN_chr15_88798436_88880353 | 88855709 | A | ACTGCCCC others(164): Show |
disruptive_inframe_insertion | MODERATE | NA19079.hp2 | a0072 | a0072c0131 | a0072c0131t0001 | a0072c0131t0001g0314 | 1 | 368 | 0.0027 | 171 | c.317 others(180): Show |
p.Thr others(186): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3561/8960 | 3180/7707 | 1060/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACAN_chr15_88798436_88880353 | 88856511 | C | CCCCTGGA others(164): Show |
disruptive_inframe_insertion | MODERATE | NA18979.hp1 | a0112 | a0112c0094 | a0112c0094t0001 | a0112c0094t0001g0128 | 1 | 368 | 0.0027 | 171 | c.409 others(180): Show |
p.Ala others(186): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4478/8960 | 4097/7707 | 1366/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ACSM2B_chr16_20531226_20581367 | 20566734 | G | GTATATAT others(164): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0008 | a0003c0008t0011 | a0003c0008t0011g0317 | 1 | 388 | 0.0026 | 171 | c.-8- others(186): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar |