| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RERE_chr1_8347404_8822640 | 8502129 | T | TGCCCGGC others(559): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18944.hp1 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0036 | a0001c0001t0001g0062a0001c0001t0006g0184a0001c0001t0036g0194 | 3 | 204 | 0.0147 | 566 | c.880 others(583): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
| ROCK1_chr18_20941906_21116813 | 21026920 | T | TTTAGATT others(559): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0116 | 1 | 212 | 0.0047 | 566 | c.121 others(585): Show |
ROCK1 | ENSG00000067900.9 | transcript | ENST00000399799.3 | protein_coding | 10/32 | chr18 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1289471 | C | CCCCGTGT others(559): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0015 | 1 | 290 | 0.0035 | 566 | c.166 others(583): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(559): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01978.hp1 HG01993.hp1 others(1): Show |
a0001a0003 | a0001c0003a0003c0001 | a0001c0003t0003a0003c0001t0001a0003c0001t0045 | a0001c0003t0003g0035a0001c0003t0003g0055a0003c0001t0001g0053others(1): Show | 4 | 280 | 0.0143 | 566 | c.89- others(579): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339771 | T | TTCTACCC others(559): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0020 | a0001c0020t0005 | a0001c0020t0005g0026 | 1 | 280 | 0.0036 | 566 | c.89- others(579): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(559): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0118 | 1 | 150 | 0.0067 | 566 | c.77- others(583): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(559): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 150 | 0.0067 | 566 | c.77- others(583): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(559): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0131 | 1 | 158 | 0.0063 | 566 | c.22+ others(583): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(559): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0072 | 1 | 158 | 0.0063 | 566 | c.22+ others(583): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SHANK1_chr19_50654255_50724802 | 50679070 | A | ATGGGGAG others(559): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0126 | 1 | 316 | 0.0032 | 566 | c.257 others(585): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1098431 | G | GGCCCCCT others(559): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0079 | 1 | 118 | 0.0085 | 566 | c.125 others(583): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
| SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(559): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0036 | a0036c0029 | a0036c0029t0001 | a0036c0029t0001g0041 | 1 | 268 | 0.0037 | 566 | c.291 others(585): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | ||||||
| SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(559): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(29): Show |
a0003a0009a0012others(4): Show | a0003c0004a0003c0022a0003c0050others(6): Show | a0003c0004t0001a0003c0022t0001a0003c0050t0001others(6): Show | a0003c0004t0001g0004a0003c0004t0001g0005a0003c0004t0001g0006others(29): Show | 32 | 268 | 0.1194 | 566 | c.291 others(585): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768605 | G | GGGAGGGA others(559): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0040 | 1 | 256 | 0.0039 | 566 | c.*22 others(577): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1887 | chr12 | TogoVar | ||||||
| SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(559): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 364 | 0.0028 | 566 | c.157 others(585): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628085 | G | GGGGTGAG others(559): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 352 | 0.0028 | 566 | c.299 others(581): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273733 | C | CCACATCA others(559): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0289 | 1 | 392 | 0.0026 | 566 | c.228 others(585): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| THBS2_chr6_169210785_169258846 | 169242970 | C | CGCCTTCC others(559): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 396 | 0.0025 | 566 | c.695 others(583): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(559): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0059 | 1 | 256 | 0.0039 | 566 | c.924 others(583): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
| TMEM120B_chr12_121707752_121787068 | 121747713 | G | TCTGGGGT others(559): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 314 | 0.0032 | 566 | c.189 others(581): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1529692 | C | CTCCCCAC others(559): Show |
intron_variant | MODIFIER | HG03239.hp1 NA19058.hp1 |
a0003a0004 | a0003c0003a0004c0007 | a0003c0003t0005a0004c0007t0004 | a0003c0003t0005g0066a0004c0007t0004g0072 | 2 | 130 | 0.0154 | 566 | c.261 others(587): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | chr2 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(559): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 388 | 0.0026 | 566 | c.-23 others(583): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507246 | C | CATACGTA others(559): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043a0001c0001t0002g0087 | 2 | 388 | 0.0052 | 566 | c.-23 others(583): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(559): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 272 | 0.0037 | 566 | c.*28 others(577): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(559): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 174 | 0.0058 | 566 | c.41- others(583): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TTLL8_chr22_50013575_50063298 | 50028864 | C | CCCCATCA others(559): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02300.hp1 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072a0002c0002t0001g0079a0002c0002t0001g0082 | 3 | 224 | 0.0134 | 566 | c.225 others(585): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| TTN_chr2_178520989_178812423 | 178757187 | A | ACAGTAAG others(559): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0021 | a0021c0011 | a0021c0011t0001 | a0021c0011t0001g0179 | 1 | 242 | 0.0041 | 566 | c.106 others(585): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | ||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(559): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0225 | 1 | 370 | 0.0027 | 566 | c.103 others(587): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
| TTN_chr2_178739405_178812423 | 178757187 | A | ACAGTAAG others(559): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0247 | 1 | 370 | 0.0027 | 566 | c.103 others(587): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(559): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0234 | 1 | 344 | 0.0029 | 566 | c.218 others(583): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| VCX2_chrX_8164944_8176267 | 8169105 | C | CCTCCCTC others(559): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0028 | 1 | 115 | 0.0087 | 566 | c.*92 others(575): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 838 | chrX | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370969 | G | GTGATATA others(559): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 350 | 0.0029 | 566 | c.-35 others(577): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370969 | G | GTGATATA others(559): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 NA19068.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0150a0001c0006t0002g0008 | 2 | 350 | 0.0057 | 566 | c.-35 others(577): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370969 | G | GTGATATA others(559): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 350 | 0.0029 | 566 | c.-35 others(577): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATATC others(559): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0020 | 1 | 350 | 0.0029 | 566 | c.-34 others(577): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | ||||||
| ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(560): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 |
a0001 | a0001c0002a0001c0030 | a0001c0002t0003a0001c0030t0001 | a0001c0002t0003g0190a0001c0030t0001g0181 | 2 | 249 | 0.0080 | 567 | c.49- others(582): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
| ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(560): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 567 | c.-10 others(578): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | ||||||
| ADAMTS16_chr5_5135330_5325304 | 5305033 | C | CCCACACC others(560): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210 | 1 | 332 | 0.0030 | 567 | c.318 others(586): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AGAP1_chr2_235489043_236136793 | 235802979 | T | TGTGATGA others(560): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0055 | 1 | 98 | 0.0102 | 567 | c.957 others(584): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AP3B1_chr5_77997326_78299698 | 78173653 | G | GACAGGTC others(560): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG02280.hp1 others(8): Show |
a0001a0006 | a0001c0004a0001c0005a0006c0013 | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(2): Show | a0001c0004t0001g0077a0001c0004t0002g0185a0001c0005t0001g0195others(8): Show | 11 | 226 | 0.0487 | 567 | c.116 others(586): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78173653 | G | GACAGGTC others(560): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0004 | 1 | 226 | 0.0044 | 567 | c.116 others(586): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
| ART1_chr11_3640128_3669416 | 3654114 | A | ATCCTCAC others(560): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0047 | 1 | 394 | 0.0025 | 567 | c.-52 others(584): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART1_chr11_3640128_3669416 | 3654140 | C | CATCAAGC others(560): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 | 1 | 394 | 0.0025 | 567 | c.-52 others(584): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART1_chr11_3640128_3669416 | 3654177 | A | ATCCTCAC others(560): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03098.hp2 HG03516.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008a0003c0003t0001g0055 | 4 | 394 | 0.0102 | 567 | c.-52 others(584): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BIRC7_chr20_63230905_63245495 | 63235398 | G | GGAAAGTG others(560): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | 567 | c.-69 others(576): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 506 | chr20 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 404061 | T | TGGGGGGG others(560): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0137 | a0001c0001t0137g0110 | 1 | 322 | 0.0031 | 567 | c.*30 others(578): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1383 | chr19 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 411119 | C | CCTGCTGG others(560): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 567 | c.-21 others(578): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1973 | chr19 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181925 | C | CTCACATA others(560): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0432 | 1 | 460 | 0.0022 | 567 | c.193 others(584): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAPN11_chr6_44153820_44189401 | 44181925 | C | CTCACATA others(560): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0413 | 1 | 460 | 0.0022 | 567 | c.193 others(584): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(560): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020 | 1 | 256 | 0.0039 | 567 | c.-45 others(588): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |