| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(450): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 246 | 0.0041 | 457 | c.53- others(470): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(450): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 242 | 0.0041 | 457 | c.917 others(476): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(450): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 246 | 0.0041 | 457 | c.-10 others(474): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370969 | G | GATATATA others(450): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 | 1 | 350 | 0.0029 | 457 | c.-35 others(468): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370969 | G | GTGATATA others(450): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 350 | 0.0029 | 457 | c.-35 others(468): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | |||||||
| ZNF705A_chr12_8152015_8185046 | 8184239 | C | CGGCCAGC others(450): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0139 | 1 | 420 | 0.0024 | 457 | c.*66 others(468): Show |
ZNF705A | ENSG00000196946.11 | transcript | ENST00000396570.8 | protein_coding | 4194 | chr12 | TogoVar | |||||||
| ABCB11_chr2_168915781_169036324 | 168975305 | A | ATAGATAA others(451): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 306 | 0.0033 | 458 | c.130 others(477): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
| ABCB11_chr2_168915781_169036324 | 168975362 | T | TATAAATA others(451): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18942.hp2 NA18959.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0015 | a0001c0001t0001g0165 a0001c0001t0001g0241 a0001c0001t0001g0243 others(6): Show |
10 | 306 | 0.0327 | 458 | c.130 others(477): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
| ABCB11_chr2_168915781_169036324 | 168975365 | A | AAATATTT others(451): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 306 | 0.0033 | 458 | c.130 others(477): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
| ABCC11_chr16_48160773_48252539 | 48247412 | A | AGAGCAGC others(451): Show |
5_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG02647.hp2 others(5): Show |
a0008a0011 | a0008c0008a0011c0015 | a0008c0008t0003a0011c0015t0003 | a0008c0008t0003g0006 a0008c0008t0003g0136 a0008c0008t0003g0137 others(4): Show |
8 | 158 | 0.0506 | 458 | c.-11 others(467): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 1/30 | 15492 | chr16 | TogoVar | ||||||
| ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(451): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0157 | 1 | 249 | 0.0040 | 458 | c.49- others(473): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
| ABHD12B_chr14_50867053_50909970 | 50870981 | A | AAGAAAGA others(451): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 376 | 0.0027 | 458 | c.-11 others(469): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1071 | chr14 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1173286 | C | CCAACACA others(451): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0242 | 1 | 337 | 0.0030 | 458 | c.61+ others(473): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
| ADAMTSL3_chr15_83649123_84044842 | 83695228 | A | ATGTGTGG others(451): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02922.hp2 HG03041.hp1 others(2): Show |
a0002a0006a0007others(1): Show | a0002c0008a0006c0005a0007c0025others(1): Show | a0002c0008t0001a0006c0005t0002a0007c0025t0014others(1): Show | a0002c0008t0001g0239 a0002c0008t0001g0241 a0006c0005t0002g0015 others(2): Show |
5 | 274 | 0.0183 | 458 | c.70- others(473): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(451): Show |
3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01168.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0072a0001c0001t0073 | a0001c0001t0025g0046 a0001c0001t0025g0049 a0001c0001t0072g0054 others(1): Show |
4 | 256 | 0.0156 | 458 | c.*39 others(467): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(451): Show |
3_prime_UTR_variant | MODIFIER | HG01346.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0084a0001c0001t0085 | a0001c0001t0084g0017 a0001c0001t0085g0037 |
2 | 256 | 0.0078 | 458 | c.*39 others(467): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(451): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0003 | 1 | 256 | 0.0039 | 458 | c.*39 others(467): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(451): Show |
3_prime_UTR_variant | MODIFIER | NA19070.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0042 a0001c0001t0028g0068 |
2 | 256 | 0.0078 | 458 | c.*39 others(467): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| APOOL_chrX_84998877_85098315 | 85088071 | C | CGTATTAA others(451): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0069 | 1 | 256 | 0.0039 | 458 | c.*39 others(467): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | chrX | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251507 | A | AAGGAAGA others(451): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 242 | 0.0041 | 458 | c.927 others(475): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687143 | C | CGAGCACT others(451): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 |
2 | 246 | 0.0081 | 458 | c.-15 others(469): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1298 | chr8 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(451): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 |
3 | 246 | 0.0122 | 458 | c.-18 others(469): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(451): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0171 | 1 | 246 | 0.0041 | 458 | c.-18 others(469): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(451): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 246 | 0.0041 | 458 | c.-18 others(469): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687529 | G | GGCGGTGA others(451): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 246 | 0.0041 | 458 | c.-19 others(469): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1684 | chr8 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687673 | A | AGTGAGCA others(451): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 246 | 0.0041 | 458 | c.-20 others(469): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1828 | chr8 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687687 | A | ACCCCGTG others(451): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01192.hp1 HG01952.hp1 |
a0001 | a0001c0005a0001c0010 | a0001c0005t0001a0001c0010t0001 | a0001c0005t0001g0006 a0001c0005t0001g0010 a0001c0010t0001g0009 |
3 | 246 | 0.0122 | 458 | c.-20 others(469): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1842 | chr8 | TogoVar | |||||||
| ARHGAP40_chr20_38596809_38655653 | 38653119 | G | GTGATGGT others(451): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 350 | 0.0029 | 458 | c.*32 others(469): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 2467 | chr20 | TogoVar | |||||||
| ARSF_chrX_3036471_3117727 | 3037022 | T | TATATATA others(451): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0028 | 1 | 193 | 0.0052 | 458 | c.-46 others(469): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4448 | chrX | TogoVar | |||||||
| ARSH_chrX_3001546_3039111 | 3037022 | T | TATATATA others(451): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0224 | 1 | 248 | 0.0040 | 458 | c.*36 others(469): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2912 | chrX | TogoVar | |||||||
| BIRC7_chr20_63230905_63245495 | 63235399 | A | AAAGTGAG others(451): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 300 | 0.0033 | 458 | c.-69 others(467): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 505 | chr20 | TogoVar | |||||||
| BMP8A_chr1_39486636_39534869 | 39504374 | G | GGGGAGAG others(451): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0183 | 1 | 362 | 0.0028 | 458 | c.335 others(475): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| BOK_chr2_241553745_241579131 | 241570438 | A | ATGGGTGA others(451): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 434 | 0.0023 | 458 | c.513 others(473): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| BOK_chr2_241553745_241579131 | 241570842 | G | GGGGGGTG others(451): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0240 | 1 | 434 | 0.0023 | 458 | c.513 others(473): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C20orf96_chr20_265863_295750 | 279033 | C | CGGGACGG others(451): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 410 | 0.0024 | 458 | c.465 others(473): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
| C2orf16_chr2_27532386_27587722 | 27539760 | C | CCCCCCGG others(451): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0018 | a0018c0021 | a0018c0021t0001 | a0018c0021t0001g0017 | 1 | 326 | 0.0031 | 458 | c.144 others(475): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| CAMKK2_chr12_121232692_121301709 | 121255234 | T | TTATATAT others(451): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG01981.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0098 a0001c0001t0001g0304 a0002c0002t0001g0320 |
3 | 330 | 0.0091 | 458 | c.907 others(473): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121255234 | T | TTATATAT others(451): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0322 | 1 | 330 | 0.0030 | 458 | c.907 others(473): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121255234 | T | TTATATAT others(451): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01106.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0012 | a0001c0001t0001g0126 a0001c0001t0001g0201 a0002c0002t0001g0097 others(3): Show |
6 | 330 | 0.0182 | 458 | c.907 others(473): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CAMTA1_chr1_6780454_7774706 | 7500258 | T | TGTGTGAG others(451): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 58 | 0.0172 | 458 | c.510 others(477): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCTGCCA others(451): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0038 | a0001c0038t0009 | a0001c0038t0009g0254 | 1 | 284 | 0.0035 | 458 | c.411 others(475): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
| CENPJ_chr13_24877279_24927861 | 24881925 | G | GATATATA others(451): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 440 | 0.0023 | 458 | c.*12 others(469): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 353 | chr13 | TogoVar | |||||||
| CHST13_chr3_126519155_126548291 | 126539875 | A | ACACACCC others(451): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 364 | 0.0028 | 458 | c.181 others(475): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43691314 | A | AAAGAAAG others(451): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 384 | 0.0026 | 458 | c.-39 others(477): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
| COL19A1_chr6_69861556_70217468 | 69920979 | T | TGATATAT others(451): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03130.hp1 |
a0002a0008 | a0002c0003a0008c0021 | a0002c0003t0034a0008c0021t0001 | a0002c0003t0034g0041 a0008c0021t0001g0052 |
2 | 182 | 0.0110 | 458 | c.267 others(475): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | chr6 | TogoVar | |||||||
| COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAAG others(451): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0113 | 1 | 344 | 0.0029 | 458 | c.85- others(475): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
| CRTC3_chr15_90524923_90650345 | 90647274 | A | ACCCCTCC others(451): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 276 | 0.0036 | 458 | c.*51 others(469): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1930 | chr15 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(451): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0041 | a0002c0041t0027 | a0002c0041t0027g0018 | 1 | 126 | 0.0079 | 458 | c.416 others(479): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| CTU2_chr16_88701503_88720396 | 88713173 | C | CCCCCCTT others(451): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0139 | 1 | 418 | 0.0024 | 458 | c.738 others(471): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132148904 | C | CGCCGCCT others(451): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 334 | 0.0030 | 458 | c.-46 others(469): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4586 | chr12 | TogoVar |