| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(632): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02015.hp2 NA19057.hp1 |
a0001a0002 | a0001c0004a0002c0001a0002c0006 | a0001c0004t0001a0002c0001t0008a0002c0006t0040 | a0001c0004t0001g0043a0002c0001t0008g0117a0002c0006t0040g0048 | 3 | 128 | 0.0234 | 639 | c.143 others(660): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMPRSS2_chr21_41459305_41513158 | 41474494 | A | AGTGAGGA others(632): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0185 | 1 | 382 | 0.0026 | 639 | c.728 others(654): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(632): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116a0001c0001t0002g0140 | 2 | 388 | 0.0052 | 639 | c.-23 others(656): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(632): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0012 | 1 | 174 | 0.0058 | 639 | c.41- others(656): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ULK1_chr12_131889622_131928150 | 131917144 | G | GTCGGGTT others(632): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 344 | 0.0029 | 639 | c.218 others(654): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| VCX3B_chrX_8459830_8471510 | 8466726 | G | GTGGGGAG others(632): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0005 | a0005c0089 | a0005c0089t0027 | a0005c0089t0027g0039 | 1 | 271 | 0.0037 | 639 | c.*34 others(648): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 217 | chrX | TogoVar | ||||||
| ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(632): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0045 | 1 | 302 | 0.0033 | 639 | c.-1- others(656): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(632): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 302 | 0.0033 | 639 | c.-1- others(656): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(632): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0038 | 1 | 302 | 0.0033 | 639 | c.-1- others(656): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(632): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0005a0001c0001t0002g0064a0001c0001t0013g0043others(2): Show | 5 | 302 | 0.0166 | 639 | c.-1- others(656): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(632): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0018 | a0018c0033 | a0018c0033t0004 | a0018c0033t0004g0274 | 1 | 290 | 0.0035 | 639 | c.205 others(658): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(632): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0170 | 1 | 383 | 0.0026 | 639 | c.-42 others(650): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919183 | A | ATATATAT others(632): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 383 | 0.0026 | 639 | c.-42 others(650): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4067 | chr19 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1153708 | T | TCCAGGCA others(633): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0117a0001c0001t0009g0050 | 2 | 337 | 0.0059 | 640 | c.61+ others(657): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1153721 | A | ACGGGAGG others(633): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0014 | a0001c0014t0010 | a0001c0014t0010g0307 | 1 | 337 | 0.0030 | 640 | c.61+ others(657): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ACTRT2_chr1_3016467_3027903 | 3016686 | A | AGGGACGG others(633): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG03225.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 366 | 0.0109 | 640 | c.-50 others(651): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4780 | chr1 | TogoVar | ||||||
| ACTRT2_chr1_3016467_3027903 | 3016686 | A | AGGGACGG others(633): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 366 | 0.0027 | 640 | c.-50 others(651): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4780 | chr1 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 344782 | G | GGGCTGTG others(633): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 |
a0006 | a0006c0006 | a0006c0006t0021 | a0006c0006t0021g0231a0006c0006t0021g0234 | 2 | 268 | 0.0075 | 640 | c.62+ others(653): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(633): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0004 | 2 | 256 | 0.0078 | 640 | c.*39 others(649): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| ARHGAP19_chr10_97217179_97297637 | 97251782 | A | AAGGGTTG others(633): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 242 | 0.0041 | 640 | c.927 others(657): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25757928 | C | CCACCTGC others(633): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0247 | 1 | 300 | 0.0033 | 640 | c.655 others(659): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(633): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 2 | 391 | 0.0051 | 640 | c.*36 others(651): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(633): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 HG02273.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0012 | 2 | 391 | 0.0051 | 640 | c.*36 others(651): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(633): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 391 | 0.0026 | 640 | c.*36 others(651): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(633): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG02683.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0017a0001c0012t0001g0027 | 2 | 300 | 0.0067 | 640 | c.-70 others(649): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1423667 | A | AGCCTCCC others(633): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02735.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0003 | a0001c0001t0006g0229a0001c0001t0006g0251a0001c0003t0003g0291 | 3 | 360 | 0.0083 | 640 | c.92- others(657): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| C1orf159_chr1_1076823_1121089 | 1080916 | G | GGTCCCTG others(633): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 326 | 0.0031 | 640 | c.*19 others(651): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 906 | chr1 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 NA18522.hp1 NA18522.hp2 others(1): Show |
a0002a0003a0007 | a0002c0002a0002c0028a0003c0026others(1): Show | a0002c0002t0033a0002c0028t0099a0003c0026t0003others(1): Show | a0002c0002t0033g0291a0002c0028t0099g0313a0003c0026t0003g0229others(1): Show | 4 | 334 | 0.0120 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0085 | a0002c0002t0085g0259 | 1 | 334 | 0.0030 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0052 | 1 | 334 | 0.0030 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 334 | 0.0030 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0004 | a0004c0023 | a0004c0023t0002 | a0004c0023t0002g0002 | 1 | 334 | 0.0030 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | NA18989.hp2 | a0004 | a0004c0023 | a0004c0023t0002 | a0004c0023t0002g0114 | 1 | 334 | 0.0030 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065082 | A | ATAGTATT others(633): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0065 | a0001c0065t0009 | a0001c0065t0009g0283 | 1 | 334 | 0.0030 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2217 | chr11 | TogoVar | ||||||
| CFAP157_chr9_127701988_127721002 | 127720832 | T | TCCCCCTT others(633): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 354 | 0.0028 | 640 | c.*69 others(651): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4831 | chr9 | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108575551 | T | TGTATATA others(633): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0162 | 1 | 372 | 0.0027 | 640 | c.894 others(655): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGCAGG others(633): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03225.hp2 |
a0001a0002 | a0001c0001a0001c0016a0002c0031 | a0001c0001t0001a0001c0016t0003a0002c0031t0001 | a0001c0001t0001g0082a0001c0016t0003g0006a0002c0031t0001g0194 | 3 | 344 | 0.0087 | 640 | c.85- others(657): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(633): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03130.hp1 NA19066.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0003g0214 | 4 | 448 | 0.0089 | 640 | c.51+ others(655): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932585 | G | GAGAGGAA others(633): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0058 | a0002c0001t0058g0341 | 1 | 386 | 0.0026 | 640 | c.198 others(657): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932825 | G | GAGAGGAA others(633): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0004 | a0001c0004t0079 | a0001c0004t0079g0018 | 1 | 386 | 0.0026 | 640 | c.198 others(657): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15933173 | T | TGAGTGAG others(633): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0225 | 1 | 386 | 0.0026 | 640 | c.198 others(657): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15933412 | A | ATGAGTGA others(633): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0001 | a0002c0001t0024 | a0002c0001t0024g0185 | 1 | 386 | 0.0026 | 640 | c.198 others(655): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15933452 | A | ATGAGTGA others(633): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0001 | a0002c0001t0024 | a0002c0001t0024g0187 | 1 | 386 | 0.0026 | 640 | c.198 others(655): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15933932 | A | ATGAGTGA others(633): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0063 | 1 | 386 | 0.0026 | 640 | c.198 others(655): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15933972 | A | ATGAGTGA others(633): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0064 | 1 | 386 | 0.0026 | 640 | c.198 others(655): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(633): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0197 | 1 | 216 | 0.0046 | 640 | c.923 others(659): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
| DCLK2_chr4_150073445_150262438 | 150251147 | C | CCACATCC others(633): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 116 | 0.0086 | 640 | c.207 others(659): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(633): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0103 | a0103c0075 | a0103c0075t0001 | a0103c0075t0001g0011 | 1 | 252 | 0.0040 | 640 | c.118 others(659): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89635026 | C | CCTTTCTT others(633): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 250 | 0.0040 | 640 | c.105 others(655): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89635035 | C | CCCTTTCC others(633): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 250 | 0.0040 | 640 | c.105 others(655): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |