| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF365_chr10_62369369_62407450 | 62370809 | C | CATCATAT others(465): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 350 | 0.0029 | 472 | c.-36 others(483): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3559 | chr10 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370809 | C | CATCATAT others(465): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0031 | 1 | 350 | 0.0029 | 472 | c.-36 others(483): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3559 | chr10 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370839 | C | CATATATC others(465): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0067 | 1 | 350 | 0.0029 | 472 | c.-36 others(483): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3529 | chr10 | TogoVar | |||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(465): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 400 | 0.0025 | 472 | c.532 others(487): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(465): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 400 | 0.0025 | 472 | c.532 others(487): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| ACTN2_chr1_236681499_236769631 | 236714030 | G | GGATATGC others(466): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 344 | 0.0029 | 473 | c.127 others(490): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(466): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 473 | c.-10 others(484): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | |||||||
| ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(466): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0025 |
2 | 418 | 0.0048 | 473 | c.-10 others(484): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | |||||||
| ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(466): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 418 | 0.0048 | 473 | c.-10 others(484): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | |||||||
| ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(466): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0011 | a0002c0011t0042 | a0002c0011t0042g0111 | 1 | 228 | 0.0044 | 473 | c.259 others(494): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
| AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(466): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0162 | 1 | 301 | 0.0033 | 473 | c.125 others(494): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(466): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 350 | 0.0029 | 473 | c.248 others(488): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(466): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 350 | 0.0029 | 473 | c.248 others(488): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(466): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 350 | 0.0029 | 473 | c.248 others(488): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(466): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01517.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0016a0005c0005 | a0001c0001t0001a0001c0016t0001a0005c0005t0001 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 others(7): Show |
10 | 350 | 0.0286 | 473 | c.248 others(488): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(466): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 350 | 0.0029 | 473 | c.248 others(488): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ARHGAP40_chr20_38596809_38655653 | 38653169 | G | GATGATGG others(466): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01069.hp1 others(27): Show |
a0001a0013 | a0001c0001a0001c0002a0013c0015 | a0001c0001t0004a0001c0002t0004a0001c0002t0005others(2): Show | a0001c0001t0004g0050 a0001c0002t0004g0033 a0001c0002t0004g0055 others(27): Show |
30 | 350 | 0.0857 | 473 | c.*33 others(484): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 2517 | chr20 | TogoVar | |||||||
| ASAP1_chr8_130047104_130448674 | 130049791 | C | CAGAGGAG others(466): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0305 | 1 | 308 | 0.0033 | 473 | c.*49 others(484): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2312 | chr8 | TogoVar | |||||||
| CACNA1H_chr16_1148106_1226768 | 1185607 | G | GGGCCGGG others(466): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0228 | 1 | 338 | 0.0030 | 473 | c.300 others(490): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(466): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 328 | 0.0031 | 473 | c.100 others(492): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(466): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0010 | 1 | 330 | 0.0030 | 473 | c.907 others(488): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(466): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 398 | 0.0050 | 473 | c.666 others(488): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136803147 | T | TGGGGCCC others(466): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 398 | 0.0025 | 473 | c.666 others(488): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136803147 | T | TGGGGGCC others(466): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0078 | 1 | 398 | 0.0025 | 473 | c.666 others(488): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CELF2_chr10_11012872_11341675 | 11107986 | A | ACTTCCCT others(466): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0148 | 1 | 194 | 0.0052 | 473 | c.75- others(490): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CELF2_chr10_11012872_11341675 | 11107986 | A | ACTTCCCT others(466): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0078 | 1 | 194 | 0.0052 | 473 | c.75- others(490): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CEP72_chr5_607340_658553 | 650104 | G | GTGAGGCG others(466): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 91 | 0.0110 | 473 | c.177 others(492): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CEP72_chr5_607340_658553 | 650104 | G | GTGAGGCG others(466): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01192.hp2 HG01433.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0046 others(9): Show |
12 | 91 | 0.1319 | 473 | c.177 others(492): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CEP72_chr5_607340_658553 | 650104 | G | GTGAGGCG others(466): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 91 | 0.0110 | 473 | c.177 others(492): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CHODL_chr21_18239833_18272370 | 18251520 | T | TAAATATT others(466): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 402 | 0.0025 | 473 | c.80- others(488): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| CLTCL1_chr22_19174473_19296719 | 19202561 | T | TCCCGCAC others(466): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0033 | 1 | 346 | 0.0029 | 473 | c.360 others(492): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
| COL18A1_chr21_45400165_45518720 | 45501686 | C | CCCCCAGG others(466): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0109 | 1 | 292 | 0.0034 | 473 | c.268 others(492): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45501701 | C | CAGCCGGT others(466): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0004 | a0004c0033 | a0004c0033t0001 | a0004c0033t0001g0282 | 1 | 292 | 0.0034 | 473 | c.268 others(492): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45501787 | C | CAGCCGGT others(466): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0076 | a0001c0076t0002 | a0001c0076t0002g0082 | 1 | 292 | 0.0034 | 473 | c.268 others(492): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3558392 | C | CACTCCTC others(466): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0029 | a0029c0027 | a0029c0027t0003 | a0029c0027t0003g0099 | 1 | 126 | 0.0079 | 473 | c.134 others(494): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(466): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0079 | a0001c0079t0072 | a0001c0079t0072g0113 | 1 | 126 | 0.0079 | 473 | c.416 others(494): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| CUL4A_chr13_113204613_113272108 | 113232039 | C | CCACCACT others(466): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 396 | 0.0025 | 473 | c.513 others(490): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232186 | G | GTCACCAC others(466): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 396 | 0.0025 | 473 | c.513 others(488): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
| CUL4A_chr13_113204613_113272108 | 113232186 | G | GTCACCAC others(466): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0348 | 1 | 396 | 0.0025 | 473 | c.513 others(488): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(466): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 367 | 0.0027 | 473 | c.-42 others(484): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
| DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(466): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 336 | 0.0030 | 473 | c.348 others(490): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(466): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01361.hp2 HG02293.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034a0001c0001t0047 | a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0034g0257 others(1): Show |
4 | 336 | 0.0119 | 473 | c.348 others(490): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(466): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 336 | 0.0030 | 473 | c.348 others(490): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(466): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 336 | 0.0030 | 473 | c.348 others(490): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(466): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG01243.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0009a0004c0012t0001 | a0001c0001t0001g0275 a0001c0001t0001g0290 a0001c0001t0001g0297 others(4): Show |
7 | 336 | 0.0208 | 473 | c.348 others(490): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(466): Show |
intron_variant | MODIFIER | NA18988.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 a0001c0001t0002g0313 |
2 | 336 | 0.0060 | 473 | c.348 others(490): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478176 | G | GAAGAAGG others(466): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0017 | 1 | 88 | 0.0114 | 473 | c.158 others(490): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 478386 | G | GGGGAGGG others(466): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0017 | a0001c0017t0009 | a0001c0017t0009g0073 | 1 | 88 | 0.0114 | 473 | c.158 others(490): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DISP3_chr1_11474155_11542551 | 11522728 | G | GCCCAGCC others(466): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 |
a0010 | a0010c0047a0010c0056 | a0010c0047t0001a0010c0056t0001 | a0010c0047t0001g0015 a0010c0056t0001g0013 |
2 | 358 | 0.0056 | 473 | c.236 others(492): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DISP3_chr1_11474155_11542551 | 11522761 | A | ACCCAGCC others(466): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0004 | a0001c0001t0007g0011 a0001c0005t0004g0294 a0001c0005t0004g0295 |
4 | 358 | 0.0112 | 473 | c.236 others(492): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |