| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CACNA1H_chr16_1148106_1226768 | 1185667 | G | GGAGGCGG others(343): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0106 | 1 | 338 | 0.0030 | 350 | c.300 others(367): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CALHM5_chr6_116506639_116529788 | 116522977 | T | TAAAATGT others(343): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0140 | a0001c0001t0140g0002 | 1 | 402 | 0.0025 | 350 | c.*70 others(361): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 7005 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAPN12_chr19_38725192_38749474 | 38735727 | G | GGGGGCGG others(343): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0180 | 1 | 342 | 0.0029 | 350 | c.158 others(367): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
| CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(343): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 284 | 0.0035 | 350 | c.151 others(367): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
| CCSER2_chr10_84323589_84523517 | 84501838 | T | TATATATA others(343): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0354 | 1 | 370 | 0.0027 | 350 | c.232 others(371): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(343): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 442 | 0.0023 | 350 | c.*27 others(361): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
| CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(343): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 442 | 0.0023 | 350 | c.*27 others(361): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
| CDH4_chr20_61247261_61945617 | 61943045 | C | CACGAGGA others(343): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0096 | 1 | 106 | 0.0094 | 350 | c.*61 others(361): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2429 | chr20 | TogoVar | |||||||
| CDK19_chr6_110604978_110820469 | 110666104 | C | CAAAGAAT others(343): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 300 | 0.0033 | 350 | c.456 others(367): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
| CENPJ_chr13_24877279_24927861 | 24881859 | G | GATATATA others(343): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 440 | 0.0023 | 350 | c.*13 others(361): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 419 | chr13 | TogoVar | |||||||
| CENPJ_chr13_24877279_24927861 | 24881962 | C | CGATATAT others(343): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0087 | 1 | 440 | 0.0023 | 350 | c.*12 others(361): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 316 | chr13 | TogoVar | |||||||
| CENPM_chr22_41933737_41952152 | 41939896 | A | AAAAGAAA others(343): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0144 | 1 | 258 | 0.0039 | 350 | c.403 others(365): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
| CENPU_chr4_184689085_184739096 | 184730507 | T | TAAAGAAA others(343): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0270 | 1 | 358 | 0.0028 | 350 | c.96+ others(363): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
| CFAP44_chr3_113281930_113446493 | 113328297 | T | TCAATCTC others(343): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0065 | 1 | 348 | 0.0029 | 350 | c.411 others(367): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | |||||||
| CFAP44_chr3_113281930_113446493 | 113328300 | A | ATCTCTTT others(343): Show |
intron_variant | MODIFIER | HG01496.hp2 NA19067.hp1 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0089a0002c0002t0002g0099a0002c0002t0004g0081 | 3 | 348 | 0.0086 | 350 | c.411 others(367): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | |||||||
| CFAP46_chr10_132803392_132947570 | 132917914 | T | TGAACCCC others(343): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0012 | a0012c0025 | a0012c0025t0002 | a0012c0025t0002g0007 | 1 | 246 | 0.0041 | 350 | c.198 others(367): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 16/57 | chr10 | TogoVar | |||||||
| CHFR_chr12_132827356_132892605 | 132836097 | A | ACTCACAG others(343): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp2 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0080a0001c0001t0099 | a0001c0001t0080g0237a0001c0001t0099g0238 | 2 | 378 | 0.0053 | 350 | c.*54 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5456 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836107 | C | CCAGGCTC others(343): Show |
3_prime_UTR_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0274 | 1 | 378 | 0.0027 | 350 | c.*54 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5446 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836107 | C | CCAGGCTC others(343): Show |
3_prime_UTR_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0311 | 1 | 378 | 0.0027 | 350 | c.*54 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5446 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836156 | C | CGGCGCAC others(343): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0245 | 1 | 378 | 0.0027 | 350 | c.*53 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5397 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836282 | C | CCAGGCTC others(343): Show |
3_prime_UTR_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0260 | 1 | 378 | 0.0027 | 350 | c.*52 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5271 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836282 | C | CCAGGCTC others(343): Show |
3_prime_UTR_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0293 | 1 | 378 | 0.0027 | 350 | c.*52 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5271 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836282 | C | CCAGGCTC others(343): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG01243.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0043a0001c0001t0044others(5): Show | a0001c0001t0010g0038a0001c0001t0010g0236a0001c0001t0010g0258others(10): Show | 15 | 378 | 0.0397 | 350 | c.*52 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5271 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836282 | C | CCAGGCTC others(343): Show |
3_prime_UTR_variant | MODIFIER | NA18962.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0081a0001c0001t0118 | a0001c0001t0081g0252a0001c0001t0118g0268 | 2 | 378 | 0.0053 | 350 | c.*52 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5271 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836282 | C | CCAGGCTC others(343): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0039 | 1 | 378 | 0.0027 | 350 | c.*52 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5271 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836282 | C | CCAGGCTC others(343): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0282 | 1 | 378 | 0.0027 | 350 | c.*52 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5271 | chr12 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836357 | C | CTCCCAGC others(343): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0296 | 1 | 378 | 0.0027 | 350 | c.*51 others(361): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5196 | chr12 | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85911163 | G | GTGTGTAT others(343): Show |
intron_variant | MODIFIER | NA19003.hp2 NA19010.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048a0001c0002t0002g0063 | 2 | 245 | 0.0082 | 350 | c.124 others(365): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
| CNOT1_chr16_58514951_58634826 | 58517773 | G | GCCGAAAA others(343): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0183 | 1 | 308 | 0.0033 | 350 | c.*31 others(361): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 2177 | chr16 | TogoVar | |||||||
| COL4A2_chr13_110302284_110518209 | 110481803 | T | TGCTGGAG others(343): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0293 | 1 | 372 | 0.0027 | 350 | c.275 others(367): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | chr13 | TogoVar | |||||||
| COL6A1_chr21_45976770_46010048 | 45988050 | G | GTCCAGAT others(343): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 | 1 | 128 | 0.0078 | 350 | c.804 others(365): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COL9A1_chr6_70211126_70308084 | 70249172 | T | TCCACTGA others(343): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0015 | 1 | 362 | 0.0028 | 350 | c.187 others(369): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 28/37 | chr6 | TogoVar | |||||||
| COL9A3_chr20_62812050_62846159 | 62824075 | G | GCGCGGAG others(343): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0025 | a0025c0068 | a0025c0068t0001 | a0025c0068t0001g0337 | 1 | 412 | 0.0024 | 350 | c.520 others(365): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 10/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| COMMD9_chr11_36267292_36294424 | 36287440 | T | TACATACT others(343): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 448 | 0.0022 | 350 | c.51+ others(365): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
| COPS3_chr17_17241616_17286246 | 17252332 | G | GCAGATAA others(343): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(2): Show | 5 | 352 | 0.0142 | 350 | c.102 others(369): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| CREB3L2_chr7_137869979_138007086 | 137946852 | T | TTATATAT others(343): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0162 | 1 | 288 | 0.0035 | 350 | c.103 others(369): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
| CROCC2_chr2_240901336_240998311 | 240924657 | C | CCCCCACA others(343): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02735.hp2 HG03492.hp1 others(1): Show |
a0001a0002a0043 | a0001c0001a0002c0002a0043c0059 | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0002g0277a0001c0001t0004g0304a0002c0002t0002g0302others(1): Show | 4 | 350 | 0.0114 | 350 | c.489 others(367): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| CSGALNACT1_chr8_19399161_19762277 | 19461481 | A | AGGACCTA others(343): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(12): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0006a0001c0002t0002a0001c0002t0006others(3): Show | a0001c0001t0006g0152a0001c0002t0002g0008a0001c0002t0002g0027others(12): Show | 15 | 238 | 0.0630 | 350 | c.635 others(367): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
| CSGALNACT1_chr8_19399161_19762277 | 19461499 | A | AGCCACAT others(343): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0017 | 1 | 238 | 0.0042 | 350 | c.635 others(367): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
| CSGALNACT1_chr8_19399161_19762277 | 19461779 | A | AGCCACAT others(343): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01978.hp2 HG02056.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053a0001c0001t0001g0064a0001c0001t0001g0085others(4): Show | 7 | 238 | 0.0294 | 350 | c.635 others(367): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
| CSGALNACT1_chr8_19399161_19762277 | 19461779 | A | AGCCACAT others(343): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 238 | 0.0042 | 350 | c.635 others(367): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 3769438 | T | TAAAGTGA others(343): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0103 | a0001c0103t0033 | a0001c0103t0033g0028 | 1 | 126 | 0.0079 | 350 | c.819 others(369): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
| CT47C1_chrX_119067993_119081765 | 119069421 | T | TAAAATAC others(343): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 310 | 0.0032 | 350 | c.-38 others(361): Show |
CT47C1 | ENSG00000277535.4 | transcript | ENST00000620151.4 | protein_coding | 3571 | chrX | TogoVar | |||||||
| CTNNBL1_chr20_37689030_37877118 | 37717092 | C | CAAAACAT others(343): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 266 | 0.0038 | 350 | c.31- others(367): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| CXorf51A_chrX_146809106_146819744 | 146812263 | A | ATATGTGT others(343): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 NA19030.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 264 | 0.0152 | 350 | c.*19 others(361): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1842 | chrX | TogoVar | |||||||
| CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(343): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 264 | 0.0038 | 350 | c.*19 others(361): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
| CXorf51B_chrX_146804771_146815411 | 146812263 | A | ATATGTGT others(343): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 NA19030.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 272 | 0.0147 | 350 | c.*19 others(361): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1853 | chrX | TogoVar | |||||||
| CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(343): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 272 | 0.0037 | 350 | c.*19 others(361): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
| D2HGDH_chr2_241729630_241773811 | 241765375 | G | GGGCTGAG others(343): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0319 | 1 | 412 | 0.0024 | 350 | c.130 others(369): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241766717 | G | GGAGCCCC others(343): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0334 | 1 | 412 | 0.0024 | 350 | c.130 others(367): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |