| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDX51_chr12_132131594_132149319 | 132134931 | CCCCGAGT others(1012): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01361.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 334 | 0.0120 | -1019 | c.*33 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1662 | chr12 | TogoVar | ||||||
| GMDS_chr6_1618806_2250605 | 2207108 | AAGAAGTC others(1012): Show |
A | intron_variant | MODIFIER | HG02615.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0058a0001c0002t0002g0059 | 2 | 166 | 0.0121 | -1019 | c.102 others(19): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
| MCEE_chr2_71104687_71135229 | 71125328 | CCTCCCGA others(1012): Show |
C | intron_variant | MODIFIER | NA18975.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0116 | 2 | 418 | 0.0048 | -1019 | c.41- others(14): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
| SGSM3_chr22_40365594_40415289 | 40398219 | GGCCTCCC others(1012): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(85): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0003c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0039a0001c0001t0001g0046a0001c0001t0001g0065others(79): Show | 88 | 292 | 0.3014 | -1019 | c.-11 others(19): Show |
SGSM3 | ENSG00000100359.21 | transcript | ENST00000248929.14 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1343723 | CTTTTCCC others(1012): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG02922.hp1 NA18990.hp2 |
a0003a0008a0017 | a0003c0007a0008c0011a0017c0031 | a0003c0007t0001a0008c0011t0001a0017c0031t0001 | a0003c0007t0001g0018a0008c0011t0001g0004a0017c0031t0001g0110 | 3 | 190 | 0.0158 | -1019 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1344067 | CCCCCTGT others(1012): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 190 | 0.0053 | -1019 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TSPAN9_chr12_3072379_3291559 | 3197818 | TCACCACC others(1012): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0003 | a0001c0003t0033 | a0001c0003t0033g0093 | 1 | 288 | 0.0035 | -1019 | c.-17 others(17): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FSTL5_chr4_161378897_162169000 | 161706984 | TAACTCTT others(1011): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03471.hp2 |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0021a0005c0007t0001 | a0001c0002t0021g0134a0005c0007t0001g0094 | 2 | 142 | 0.0141 | -1018 | c.727 others(19): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 6/15 | chr4 | TogoVar | ||||||
| HIP1_chr7_75528298_75743941 | 75585276 | CCAGGTTC others(1011): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0017 | 1 | 254 | 0.0039 | -1018 | c.465 others(16): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 5/30 | chr7 | TogoVar | ||||||
| PCDH11X_chrX_91774375_92628230 | 92495748 | CTTACATG others(1011): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0002g0001a0001c0001t0006g0022a0001c0001t0007g0017others(5): Show | 8 | 154 | 0.0520 | -1018 | c.336 others(21): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CHMP2B_chr3_87222309_87260556 | 87256474 | ATTTGAAT others(1010): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02109.hp2 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0004a0002c0004t0009 | a0002c0004t0004g0024a0002c0004t0004g0119a0002c0004t0004g0120others(2): Show | 7 | 414 | 0.0169 | -1017 | c.*26 others(11): Show |
CHMP2B | ENSG00000083937.10 | transcript | ENST00000263780.9 | protein_coding | 919 | chr3 | TogoVar | ||||||
| POU1F1_chr3_87254404_87281584 | 87256474 | ATTTGAAT others(1010): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0037a0001c0001t0006g0064a0001c0001t0006g0103others(3): Show | 7 | 420 | 0.0167 | -1017 | c.*24 others(11): Show |
POU1F1 | ENSG00000064835.12 | transcript | ENST00000350375.7 | protein_coding | 2929 | chr3 | TogoVar | ||||||
| RASSF3_chr12_64605495_64702564 | 64623682 | ACCCAGGC others(1010): Show |
A | intron_variant | MODIFIER | HG06807.hp1 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0086a0001c0001t0088a0001c0001t0090 | a0001c0001t0086g0362a0001c0001t0088g0361a0001c0001t0090g0369 | 3 | 370 | 0.0081 | -1017 | c.111 others(19): Show |
RASSF3 | ENSG00000153179.14 | transcript | ENST00000542104.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1343615 | CCCCTGTT others(1010): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0026 | a0003c0026t0001 | a0003c0026t0001g0097 | 1 | 190 | 0.0053 | -1017 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AQR_chr15_34846782_34974742 | 34904642 | CCCTCCAC others(1009): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03540.hp2 |
a0001 | a0001c0008 | a0001c0008t0021 | a0001c0008t0021g0176a0001c0008t0021g0177 | 2 | 312 | 0.0064 | -1016 | c.183 others(17): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 18/34 | chr15 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1033970 | CGGTGTCT others(1009): Show |
C | intron_variant | MODIFIER | HG01168.hp2 NA20752.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0007 | a0001c0001t0001g0108a0001c0005t0007g0120 | 2 | 390 | 0.0051 | -1016 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186152 | GGGGAACA others(1009): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG02717.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0130a0001c0001t0001g0131others(1): Show | 4 | 350 | 0.0114 | -1016 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2837 | chr16 | TogoVar | ||||||
| MAP2K5_chr15_67537703_67812114 | 67575983 | GATCTCGG others(1009): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0066a0001c0001t0004g0229a0001c0001t0004g0230others(45): Show | 48 | 278 | 0.1727 | -1016 | c.253 others(17): Show |
MAP2K5 | ENSG00000137764.20 | transcript | ENST00000178640.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393751 | CGGGTGGT others(1009): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0013 | a0002c0013t0035 | a0002c0013t0035g0183a0002c0013t0035g0184 | 2 | 346 | 0.0058 | -1016 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ACER1_chr19_6301142_6338612 | 6330473 | GCTAGTTT others(1008): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG01433.hp2 HG02451.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(12): Show | 15 | 396 | 0.0379 | -1015 | c.93+ others(15): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| ITSN1_chr21_33637501_33904861 | 33652044 | CTAAAAGC others(1008): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG06807.hp2 NA19043.hp2 |
a0001 | a0001c0002a0001c0027 | a0001c0002t0013a0001c0002t0070a0001c0027t0010 | a0001c0002t0013g0241a0001c0002t0070g0242a0001c0027t0010g0240 | 3 | 242 | 0.0124 | -1015 | c.-33 others(18): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| UBE2K_chr4_39693136_39787792 | 39711180 | TGAGACGG others(1008): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0007 | 1 | 336 | 0.0030 | -1015 | c.63+ others(17): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
| ZSCAN5A_chr19_56216303_56319839 | 56235036 | GAAGCCTC others(1008): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 362 | 0.0028 | -1015 | c.-12 others(20): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049197 | GGAACACA others(1007): Show |
G | downstream_gene_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0031 | 1 | 308 | 0.0033 | -1014 | c.*45 others(11): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2906 | chr8 | TogoVar | ||||||
| ATP5F1A_chr18_46075248_46103296 | 46096714 | GCTCATGC others(1007): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 NA18940.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022a0001c0001t0023others(1): Show | a0001c0001t0002g0031a0001c0001t0002g0142a0001c0001t0002g0145others(3): Show | 7 | 390 | 0.0180 | -1014 | c.60+ others(14): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
| ZBTB45_chr19_58508530_58524810 | 58523796 | GAGTAGCT others(1007): Show |
G | upstream_gene_variant | MODIFIER | NA18950.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 410 | 0.0049 | -1014 | c.-50 others(11): Show |
ZBTB45 | ENSG00000119574.13 | transcript | ENST00000594051.6 | protein_coding | 3987 | chr19 | TogoVar | ||||||
| FAM78A_chr9_131253078_131281510 | 131261970 | TAATCCCA others(1006): Show |
T | intron_variant | MODIFIER | HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0046 | 2 | 418 | 0.0048 | -1013 | c.324 others(16): Show |
FAM78A | ENSG00000126882.14 | transcript | ENST00000372271.4 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1531907 | CTCAAATC others(1006): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp2 others(14): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0015others(4): Show | a0001c0001t0003a0002c0002t0003a0002c0002t0006others(5): Show | a0001c0001t0003g0077a0001c0001t0003g0128a0002c0002t0003g0056others(14): Show | 17 | 130 | 0.1308 | -1013 | c.261 others(19): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | chr2 | TogoVar | ||||||
| ZNF143_chr11_9456012_9533524 | 9504239 | TTGAGCCA others(1006): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(87): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(87): Show | 90 | 332 | 0.2711 | -1013 | c.114 others(19): Show |
ZNF143 | ENSG00000166478.10 | transcript | ENST00000396602.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ZNF143_chr11_9456012_9533524 | 9504250 | CACCTGGC others(1006): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02451.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039 | 3 | 332 | 0.0090 | -1013 | c.114 others(19): Show |
ZNF143 | ENSG00000166478.10 | transcript | ENST00000396602.7 | protein_coding | 11/15 | chr11 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 170846 | GCAGCACC others(1005): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(49): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(218): Show | 263 | 339 | 0.7758 | -1012 | c.453 others(16): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| FAM149A_chr4_186099704_186180337 | 186173611 | CCTCCCAA others(1005): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG02004.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0082a0001c0014t0059 | a0001c0001t0082g0044a0001c0014t0059g0006 | 2 | 390 | 0.0051 | -1012 | c.*16 others(11): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 14/14 | 1625 | chr4 | TogoVar | |||||
| FNTA_chr8_43051323_43090785 | 43065499 | AGCCTCCC others(1005): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0089a0001c0001t0001g0181others(4): Show | 9 | 294 | 0.0306 | -1012 | c.401 others(17): Show |
FNTA | ENSG00000168522.13 | transcript | ENST00000302279.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2281208 | AGGACGCC others(1005): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0167 | 1 | 330 | 0.0030 | -1012 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CCL26_chr7_75764538_75777211 | 75764767 | CAGGCAGG others(1004): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 424 | 0.0047 | -1011 | c.*39 others(11): Show |
CCL26 | ENSG00000006606.9 | transcript | ENST00000005180.9 | protein_coding | 4770 | chr7 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805443 | TCCCTCCC others(1004): Show |
T | downstream_gene_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 314 | 0.0032 | -1011 | c.*12 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1157 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805443 | TCCCTCCC others(1004): Show |
T | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 319 | 0.0031 | -1011 | c.-38 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3749 | chr2 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235637 | CCCCTCTG others(1003): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 106 | 0.0094 | -1010 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| GATAD2B_chr1_153799725_153927972 | 153884919 | GCTAATTT others(1003): Show |
G | intron_variant | MODIFIER | HG02280.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0161a0001c0001t0016g0162 | 2 | 349 | 0.0057 | -1010 | c.-2+ others(17): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346253 | CGAGAGCA others(1003): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 288 | 0.0035 | -1010 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| TMEM41B_chr11_9275654_9319593 | 9302093 | GCCTCCCG others(1003): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(203): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(174): Show | 206 | 370 | 0.5568 | -1010 | c.122 others(17): Show |
TMEM41B | ENSG00000166471.11 | transcript | ENST00000528080.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| CLUL1_chr18_591988_655182 | 654174 | GCCTCAAA others(1001): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG03225.hp1 |
a0001a0002 | a0001c0011a0002c0005 | a0001c0011t0001a0002c0005t0001 | a0001c0011t0001g0071a0002c0005t0001g0125 | 2 | 414 | 0.0048 | -1008 | c.*42 others(11): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 3993 | chr18 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166641 | ATCTGACA others(1001): Show |
A | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 339 | 0.0030 | -1008 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(1001): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0010a0001c0001t0017g0047 | 2 | 339 | 0.0059 | -1008 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1991168 | CGAGCACC others(1001): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0195others(6): Show | 9 | 264 | 0.0341 | -1008 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| PPARG_chr3_12284070_12439344 | 12324026 | CCCAGCAC others(1001): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 294 | 0.0034 | -1008 | c.-9+ others(17): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RGPD4_chr2_107821892_107897544 | 107894220 | AGTCTGGG others(1001): Show |
A | downstream_gene_variant | MODIFIER | NA18939.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0033 | 1 | 374 | 0.0027 | -1008 | c.*34 others(11): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1677 | chr2 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827216 | GCTACTGC others(1001): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0007 | a0001c0007t0011 | a0001c0007t0011g0010 | 1 | 200 | 0.0050 | -1008 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| ZNF208_chr19_21961095_22015943 | 21971336 | GCTTTGCC others(1001): Show |
G | disruptive_inframe_deletion | MODERATE | NA18951.hp1 | a0029 | a0029c0041 | a0029c0041t0003 | a0029c0041t0003g0100 | 1 | 404 | 0.0025 | -1008 | c.269 others(9): Show |
p.Gly others(14): Show |
ZNF208 | ENSG00000160321.16 | transcript | ENST00000397126.9 | protein_coding | 4/4 | 3846/9088 | 2690/3843 | 897/1280 | chr19 | TogoVar | ||
| DLGAP2_chr8_732628_1713476 | 1396201 | TGTATTGA others(1000): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03492.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0005 | a0001c0002t0002g0021a0002c0001t0005g0028 | 2 | 40 | 0.0500 | -1007 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |