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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0026 | 1 | 81 | 0.0123 | 26 | c.161 others(43): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200816782 | A | ATATGTGT others(19): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 338 | 0.0030 | 26 | c.645 others(43): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816810 | A | ATATGTGT others(19): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 234 | 0.0043 | 26 | c.645 others(43): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816810 | A | ATATGTGT others(19): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 a0001c0001t0001g0328 |
2 | 235 | 0.0085 | 26 | c.645 others(43): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATAATTTT others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0003t0008 | a0001c0001t0020g0049 a0001c0003t0008g0032 |
2 | 14 | 0.1429 | 26 | c.438 others(45): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7335124 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0031 | 1 | 17 | 0.0588 | 26 | c.438 others(45): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7398193 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 | 1 | 22 | 0.0455 | 26 | c.439 others(45): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004497 | G | GGGAGTTA others(19): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03927.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0030 | 2 | 329 | 0.0061 | 26 | c.-14 others(45): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004499 | G | GGGAGCTG others(19): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0070 | 1 | 391 | 0.0026 | 26 | c.-14 others(45): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004510 | A | AGAGGAGT others(19): Show |
intron_variant | MODIFIER | NA18986.hp2 NA19000.hp1 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0001g0123 a0001c0001t0001g0151 others(1): Show |
4 | 391 | 0.0102 | 26 | c.-14 others(45): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 106 | 0.0094 | 26 | c.721 others(41): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17461992 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 41 | 0.0244 | 26 | c.223 others(41): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02897.hp2 HG04204.hp2 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0002a0004c0010t0001 | a0001c0001t0001g0008 a0001c0001t0002g0028 a0004c0010t0001g0063 |
3 | 19 | 0.1579 | 26 | c.301 others(43): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735777 | C | CGGGGGTT others(19): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0234 | 1 | 338 | 0.0030 | 26 | c.158 others(43): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735977 | C | CGGGGCGG others(19): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0232 | 1 | 339 | 0.0029 | 26 | c.158 others(43): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31195603 | C | CTGGGATT others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 324 | 0.0031 | 26 | c.876 others(43): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 8/21 | chr2 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223737720 | G | GTGGGGGG others(19): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0038 | a0001c0038t0010 | a0001c0038t0010g0336 | 1 | 216 | 0.0046 | 26 | c.308 others(43): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 4 | 0.2500 | 26 | c.40- others(41): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116904969 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0290 | 1 | 222 | 0.0045 | 26 | c.426 others(41): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATAAATA others(19): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 195 | 0.0051 | 26 | c.330 others(43): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0235 |
2 | 196 | 0.0102 | 26 | c.330 others(43): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19416860 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 |
3 | 32 | 0.0938 | 26 | c.93+ others(41): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
CARD19_chr9_93091217_93118283 | 93116035 | G | GTTCCTTC others(19): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0010 | 1 | 356 | 0.0028 | 26 | c.*29 others(37): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 2753 | chr9 | TogoVar | |||||||
CARF_chr2_202907275_202993263 | 202986883 | T | TATACATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0147 a0001c0001t0035g0235 |
2 | 328 | 0.0061 | 26 | c.*32 others(37): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3263 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 | 1 | 76 | 0.0132 | 26 | c.*31 others(37): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0315 |
2 | 101 | 0.0198 | 26 | c.-7- others(41): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25332762 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0004 | a0001c0001t0008g0014 a0001c0004t0004g0023 |
2 | 176 | 0.0114 | 26 | c.138 others(45): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459242 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0102 | 1 | 180 | 0.0056 | 26 | c.615 others(43): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459268 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0090 a0001c0001t0008g0133 |
2 | 154 | 0.0130 | 26 | c.615 others(43): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25529755 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0183 | 1 | 99 | 0.0101 | 26 | c.206 others(43): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110649931 | C | CTGTTTTT others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02074.hp1 HG03927.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0002a0001c0003t0002a0002c0004t0001 | a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0315 others(3): Show |
6 | 22 | 0.2727 | 26 | c.105 others(45): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 10/14 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110679549 | A | AAAAGAAA others(19): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02717.hp1 others(4): Show |
a0001a0003a0007 | a0001c0002a0003c0011a0007c0014 | a0001c0002t0002a0003c0011t0002a0007c0014t0002 | a0001c0002t0002g0022 a0001c0002t0002g0251 a0003c0011t0002g0252 others(3): Show |
7 | 356 | 0.0197 | 26 | c.656 others(43): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40140317 | A | AACACACA others(19): Show |
upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 127 | 0.0079 | 26 | c.-23 others(35): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 219 | chr17 | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41598134 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0019 | a0001c0001t0007g0006 a0001c0005t0019g0015 |
2 | 145 | 0.0138 | 26 | c.115 others(45): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 12/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41829696 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 28 | 0.0357 | 26 | c.172 others(45): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | |||||||
CASP3_chr4_184622696_184654447 | 184631542 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 39 | 0.0256 | 26 | c.483 others(41): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115723283 | A | ATCTATCT others(19): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0053 | 1 | 362 | 0.0028 | 26 | c.783 others(43): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115750896 | C | CTGTAGGT others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(199): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0002g0153 a0001c0001t0002g0174 a0001c0001t0004g0192 others(194): Show |
202 | 362 | 0.5580 | 26 | c.235 others(43): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252457 | A | AGAAAGAA others(19): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0179 | 1 | 265 | 0.0038 | 26 | c.-24 others(45): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74963074 | C | CAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 | 1 | 27 | 0.0370 | 26 | c.-19 others(37): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1630 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0052 |
2 | 88 | 0.0227 | 26 | c.113 others(41): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0012 | 1 | 87 | 0.0115 | 26 | c.113 others(41): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0041 a0001c0001t0029g0043 |
2 | 88 | 0.0227 | 26 | c.113 others(41): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10700080 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02080.hp1 NA18969.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0011a0001c0008t0019 | a0001c0002t0001g0117 a0001c0008t0011g0100 a0001c0008t0019g0038 |
3 | 105 | 0.0286 | 26 | c.-24 others(43): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
CATIP_chr2_218351857_218373094 | 218357259 | G | GTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02572.hp1 NA18943.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 others(5): Show |
8 | 28 | 0.2857 | 26 | c.118 others(40): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26207777 | A | AAAAAAGA others(19): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0008 | 1 | 171 | 0.0058 | 26 | c.*52 others(37): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 4814 | chr1 | TogoVar | |||||||
CATSPER4_chr1_26185602_26207964 | 26207777 | A | AAAGAAGA others(19): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 171 | 0.0058 | 26 | c.*52 others(37): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 4814 | chr1 | TogoVar | |||||||
CATSPER4_chr1_26185602_26207964 | 26207777 | A | AAGAAAGA others(19): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 171 | 0.0058 | 26 | c.*52 others(37): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 4814 | chr1 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91661524 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0101 a0001c0001t0005g0006 a0001c0001t0005g0007 others(2): Show |
5 | 45 | 0.1111 | 26 | c.128 others(45): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | C | CATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0119 | 1 | 47 | 0.0213 | 26 | c.-44 others(37): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar |