| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C9orf85_chr9_71906639_71978457 | 71929860 | T | TAAACTTA others(338): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0156 | 2 | 250 | 0.0080 | 345 | c.103 others(364): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACHD1_chr1_64465129_64698053 | 64492378 | T | TCCCCCTA others(338): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 166 | 0.0060 | 345 | c.198 others(364): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CACHD1_chr1_64465129_64698053 | 64492378 | T | TCCCCCTA others(338): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 166 | 0.0060 | 345 | c.198 others(364): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CADPS2_chr7_122313411_122891460 | 122469786 | T | TAAAATAT others(338): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 126 | 0.0079 | 345 | c.218 others(364): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 14/29 | chr7 | TogoVar | ||||||
| CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(338): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02486.hp1 |
a0001a0002 | a0001c0010a0002c0012 | a0001c0010t0008a0002c0012t0006 | a0001c0010t0008g0218a0002c0012t0006g0219 | 2 | 242 | 0.0083 | 345 | c.-31 others(356): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | ||||||
| CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(338): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01243.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(16): Show | a0001c0001t0002g0030a0001c0001t0002g0156a0001c0001t0002g0194others(32): Show | 35 | 242 | 0.1446 | 345 | c.-31 others(356): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | ||||||
| CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(338): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01175.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0001g0062a0001c0001t0004g0063a0001c0001t0004g0093others(9): Show | 12 | 242 | 0.0496 | 345 | c.-31 others(356): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | ||||||
| CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(338): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 242 | 0.0041 | 345 | c.-31 others(356): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | ||||||
| CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(338): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0004 | a0001c0001t0002g0107a0001c0001t0002g0109a0001c0001t0002g0110others(4): Show | 7 | 242 | 0.0289 | 345 | c.-31 others(356): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | ||||||
| CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(338): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG03130.hp1 NA18522.hp2 |
a0001a0002 | a0001c0010a0002c0009 | a0001c0010t0008a0002c0009t0010 | a0001c0010t0008g0033a0001c0010t0008g0034a0002c0009t0010g0081 | 3 | 242 | 0.0124 | 345 | c.-31 others(356): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | ||||||
| CAMK2B_chr7_44212154_44330594 | 44328560 | G | GGTGGTGA others(338): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0119 | 1 | 242 | 0.0041 | 345 | c.-31 others(356): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2967 | chr7 | TogoVar | ||||||
| CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(338): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 410 | 0.0024 | 345 | c.-22 others(362): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAPN15_chr16_522712_559636 | 544780 | T | TCGTCTCC others(338): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0237 | 1 | 410 | 0.0024 | 345 | c.-22 others(362): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CASP10_chr2_201178141_201226665 | 201197142 | T | TTTAAAAT others(338): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0105 | 2 | 322 | 0.0062 | 345 | c.684 others(362): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CASP8_chr2_201255536_201292709 | 201284695 | G | GGGGAGAG others(338): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02723.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018a0001c0001t0005g0210a0001c0001t0005g0261others(3): Show | 8 | 386 | 0.0207 | 345 | c.803 others(359): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CCDC88A_chr2_55282842_55424856 | 55297381 | A | AAATATAT others(338): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0012a0001c0002t0006g0014 | 2 | 316 | 0.0063 | 345 | c.482 others(362): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 29/32 | chr2 | TogoVar | ||||||
| CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(338): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0021 | a0001c0001t0001g0095a0001c0001t0001g0279a0001c0001t0001g0371others(3): Show | 6 | 396 | 0.0152 | 345 | c.349 others(360): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CDH13_chr16_82621969_83805640 | 83031167 | T | TATATACA others(338): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0071 | 1 | 110 | 0.0091 | 345 | c.158 others(360): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CDYL2_chr16_80592907_80809598 | 80663084 | T | TAAAAAAA others(338): Show |
intron_variant | MODIFIER | HG01361.hp1 NA18971.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0013 | a0001c0002t0003g0008a0001c0002t0013g0179 | 2 | 258 | 0.0078 | 345 | c.616 others(364): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
| CENPJ_chr13_24877279_24927861 | 24881860 | A | ATATATAG others(338): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0087 | 1 | 440 | 0.0023 | 345 | c.*13 others(356): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 418 | chr13 | TogoVar | ||||||
| CENPU_chr4_184689085_184739096 | 184730507 | T | TAAAGAAA others(338): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03540.hp1 |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0003a0005c0007t0003 | a0003c0003t0003g0027a0005c0007t0003g0283 | 3 | 358 | 0.0084 | 345 | c.96+ others(358): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
| CFAP44_chr3_113281930_113446493 | 113328297 | T | TCAATCTC others(338): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02300.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0112a0002c0002t0005g0120 | 2 | 348 | 0.0058 | 345 | c.411 others(362): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
| CFAP44_chr3_113281930_113446493 | 113328300 | A | ATCTCTTT others(338): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0098 | 1 | 348 | 0.0029 | 345 | c.411 others(362): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
| CFAP44_chr3_113281930_113446493 | 113328300 | A | ATCTCTTT others(338): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp2 others(15): Show |
a0002a0010a0018others(1): Show | a0002c0002a0010c0016a0018c0022others(1): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(6): Show | a0002c0002t0002g0055a0002c0002t0002g0062a0002c0002t0002g0069others(14): Show | 18 | 348 | 0.0517 | 345 | c.411 others(362): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(338): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 | 1 | 168 | 0.0060 | 345 | c.-26 others(354): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CHRNA7_chr15_32025515_32178018 | 32034351 | C | CAGAAAAT others(338): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 307 | 0.0033 | 345 | c.195 others(362): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CLASRP_chr19_45034045_45075956 | 45038561 | T | TAAAAAAT others(338): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0086 | 1 | 364 | 0.0028 | 345 | c.-57 others(354): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 483 | chr19 | TogoVar | ||||||
| CNBD1_chr8_86861415_87387859 | 87136898 | A | ATATATAA others(338): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 152 | 0.0066 | 345 | c.432 others(364): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CNOT1_chr16_58514951_58634826 | 58517773 | G | GCCGAAAA others(338): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0185 | 1 | 308 | 0.0033 | 345 | c.*31 others(356): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 2177 | chr16 | TogoVar | ||||||
| CNOT6_chr5_180489379_180583358 | 180552970 | A | ATCATTTC others(338): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0038 | 1 | 334 | 0.0030 | 345 | c.300 others(360): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CNPY3_chr6_42924480_42944294 | 42935941 | T | TAAAGACA others(338): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0093 | 2 | 408 | 0.0049 | 345 | c.372 others(360): Show |
CNPY3 | ENSG00000137161.18 | transcript | ENST00000372836.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 99787433 | T | TTAAACTT others(338): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 66 | 0.0152 | 345 | c.56- others(362): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45501744 | C | CAGCCGGT others(338): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0013 | a0001c0013t0014 | a0001c0013t0014g0210 | 1 | 292 | 0.0034 | 345 | c.268 others(364): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL19A1_chr6_69861556_70217468 | 69920971 | T | TATATATG others(338): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0107 | 1 | 182 | 0.0055 | 345 | c.267 others(362): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| COL25A1_chr4_108803725_109307658 | 109079795 | T | TAAGAGTT others(338): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 130 | 0.0077 | 345 | c.368 others(364): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
| COL4A4_chr2_226997714_227169205 | 227158761 | T | TCTGGGAT others(338): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0007 | 1 | 284 | 0.0035 | 345 | c.-10 others(364): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 1/47 | chr2 | TogoVar | ||||||
| COL8A1_chr3_99633594_99804217 | 99645303 | T | TAAGATTA others(338): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207 | 1 | 262 | 0.0038 | 345 | c.-12 others(364): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CPD_chr17_30373927_30474989 | 30424104 | T | TGCAGCTT others(338): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 296 | 0.0034 | 345 | c.184 others(362): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CRACD_chr4_56044098_56335609 | 56200022 | T | TCAGAAGT others(338): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0087 | 1 | 250 | 0.0040 | 345 | c.-18 others(366): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CREB1_chr2_207524962_207610988 | 207607677 | T | TATCATAC others(338): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0175 | 1 | 308 | 0.0033 | 345 | c.*10 others(358): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 1690 | chr2 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240924307 | C | CCCCCACA others(338): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0106 | 1 | 350 | 0.0029 | 345 | c.489 others(362): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CSMD1_chr8_2930361_4999914 | 3769438 | T | TAAAGTGA others(338): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0071 | a0001c0071t0069 | a0001c0071t0069g0115 | 1 | 126 | 0.0079 | 345 | c.819 others(364): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSNK1G2_chr19_1936172_1986338 | 1967668 | T | TGGGGGCT others(338): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0017 | 1 | 382 | 0.0026 | 345 | c.-26 others(364): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CTNNA3_chr10_65907523_67701195 | 66983476 | T | TAAAATAC others(338): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0038 | 1 | 46 | 0.0217 | 345 | c.104 others(368): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232186 | G | GTCACCAC others(338): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 396 | 0.0025 | 345 | c.513 others(360): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
| CYBRD1_chr2_171517474_171563129 | 171558477 | T | TTAATATT others(338): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0302 | 1 | 394 | 0.0025 | 345 | c.*36 others(356): Show |
CYBRD1 | ENSG00000071967.12 | transcript | ENST00000321348.9 | protein_coding | 349 | chr2 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478138 | A | AGAGGGGA others(338): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | 345 | c.158 others(362): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DIPK1B_chr9_136707572_136729742 | 136720207 | T | TTCATTTT others(338): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0077 | 1 | 422 | 0.0024 | 345 | c.199 others(362): Show |
DIPK1B | ENSG00000165716.11 | transcript | ENST00000371692.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DNA2_chr10_68409064_68476973 | 68459337 | C | CAAAAAAA others(338): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 326 | 0.0031 | 345 | c.588 others(360): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(338): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0016 | 1 | 284 | 0.0035 | 345 | c.124 others(366): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |