| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SYT11_chr1_155854567_155890199 | 155874472 | TGCCTGTA others(741): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01433.hp2 HG01975.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0128a0001c0001t0003g0201a0001c0001t0003g0202others(3): Show | 6 | 314 | 0.0191 | -748 | c.861 others(17): Show |
SYT11 | ENSG00000132718.9 | transcript | ENST00000368324.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129088798 | GGGTGTCC others(741): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 94 | 0.0106 | -748 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| DMXL2_chr15_51442791_51627771 | 51528078 | ATACAGTG others(740): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0036 | 1 | 346 | 0.0029 | -747 | c.243 others(19): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 13/43 | chr15 | TogoVar | ||||||
| EDEM2_chr20_35110364_35152336 | 35128254 | GCGCCTGT others(740): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01261.hp2 HG02055.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0001g0038a0001c0001t0001g0114others(10): Show | 16 | 332 | 0.0482 | -747 | c.845 others(17): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 7/10 | chr20 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79885980 | TAGGGACG others(740): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0160a0001c0003t0001g0036a0001c0003t0001g0072others(46): Show | 49 | 312 | 0.1571 | -747 | c.625 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCTD5_chr16_2677523_2714030 | 2705557 | CCAGTGCG others(740): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 414 | 0.0024 | -747 | c.676 others(16): Show |
KCTD5 | ENSG00000167977.9 | transcript | ENST00000301738.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PPP1R8_chr1_27825782_27856676 | 27853228 | CCGTCCGG others(740): Show |
C | downstream_gene_variant | MODIFIER | NA18966.hp2 NA19007.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0103 | 3 | 340 | 0.0088 | -747 | c.*27 others(11): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 1553 | chr1 | TogoVar | ||||||
| TENM2_chr5_166974029_168269157 | 167431925 | ATACATAT others(740): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0050 | 1 | 54 | 0.0185 | -747 | c.502 others(19): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133291361 | CCCCGTGT others(740): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 284 | 0.0070 | -747 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291730 | TCCGTGTC others(740): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0031 | 1 | 284 | 0.0035 | -747 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| AFDN_chr6_167821911_167977023 | 167940519 | GCCATCCA others(739): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0286 | 1 | 326 | 0.0031 | -746 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| C7orf50_chr7_992006_1143247 | 1128439 | CATCTCGG others(739): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0194a0001c0001t0005g0305 | 2 | 326 | 0.0061 | -746 | c.-1- others(15): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2106011 | GGAGGGTT others(739): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0018 | a0001c0018t0042 | a0001c0018t0042g0083 | 1 | 104 | 0.0096 | -746 | c.50- others(15): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1015994 | AGACGGCG others(739): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 40 | 0.0250 | -746 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| LPP_chr3_188149157_188895671 | 188784676 | TATATATA others(739): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0007 | a0007c0012 | a0007c0012t0014 | a0007c0012t0014g0045 | 1 | 76 | 0.0132 | -746 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RASSF2_chr20_4775023_4828608 | 4826754 | AAAAAATT others(739): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0032others(83): Show | 96 | 430 | 0.2233 | -746 | c.-40 others(11): Show |
RASSF2 | ENSG00000101265.16 | transcript | ENST00000379400.8 | protein_coding | 3147 | chr20 | TogoVar | ||||||
| B3GALT1_chr2_167288001_167879045 | 167810059 | CTGTGGGC others(738): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG03139.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0041 | a0001c0001t0005g0012a0001c0001t0005g0051a0001c0001t0005g0058others(1): Show | 4 | 118 | 0.0339 | -745 | c.-35 others(19): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ECSCR_chr5_139443560_139467743 | 139452659 | GNNNNNNN others(738): Show |
G | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 369 | 0.0027 | -745 | c.512 others(17): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 8/9 | chr5 | TogoVar | ||||||
| PAIP1_chr5_43521267_43562077 | 43549979 | CTCCCAAA others(738): Show |
C | intron_variant | MODIFIER | HG03453.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0041 | 2 | 350 | 0.0057 | -745 | c.436 others(17): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
| RUNDC3B_chr7_87623398_87837296 | 87626029 | GAGAGAGA others(738): Show |
G | upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0158 | 1 | 202 | 0.0050 | -745 | c.-27 others(11): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2368 | chr7 | TogoVar | ||||||
| GABRG3_chr15_26966181_27546984 | 27305935 | CATATATA others(737): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0012a0001c0016 | a0001c0001t0028a0001c0012t0003a0001c0016t0001 | a0001c0001t0028g0054a0001c0012t0003g0068a0001c0016t0001g0074 | 3 | 92 | 0.0326 | -744 | c.271 others(19): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805641 | CCCCTCAG others(737): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0161 | 1 | 314 | 0.0032 | -744 | c.*14 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1355 | chr2 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346998 | GAGCGGAC others(737): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 288 | 0.0035 | -744 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186152 | GGGGAACA others(737): Show |
G | downstream_gene_variant | MODIFIER | HG02080.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0110 | 2 | 350 | 0.0057 | -744 | c.*23 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2837 | chr16 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186390 | GGGGAACA others(737): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01433.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0076others(8): Show | 11 | 350 | 0.0314 | -744 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2599 | chr16 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805641 | CCCCTCAG others(737): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 319 | 0.0031 | -744 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3551 | chr2 | TogoVar | ||||||
| PPP1R16B_chr20_38800697_38928024 | 38916201 | AAAAGGAG others(737): Show |
A | intron_variant | MODIFIER | NA18970.hp1 NA18981.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0082a0001c0002t0003g0111 | 2 | 244 | 0.0082 | -744 | c.119 others(19): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 10/10 | chr20 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3092674 | TAACCGCA others(737): Show |
T | intron_variant | MODIFIER | HG02027.hp2 HG02735.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0112a0001c0002t0002g0040 | 2 | 340 | 0.0059 | -744 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092838 | CGCGCCTA others(737): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03486.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0027a0001c0001t0001g0302a0001c0002t0001g0193others(1): Show | 4 | 340 | 0.0118 | -744 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMYD3_chr1_245744347_246512279 | 245974893 | CAGGGAAA others(737): Show |
C | intron_variant | MODIFIER | HG02809.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0019a0002c0007t0001g0120 | 2 | 150 | 0.0133 | -744 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245976233 | AGCCCAGG others(737): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0120 | 1 | 150 | 0.0067 | -744 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245976305 | AGCCCAGG others(737): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0105 | 1 | 150 | 0.0067 | -744 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1638665 | GTCCTGTG others(736): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 223 | 0.0045 | -743 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1640591 | GAGGATGT others(736): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0128 | 2 | 223 | 0.0090 | -743 | c.911 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1640601 | GCACAGCC others(736): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 223 | 0.0045 | -743 | c.911 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1461196 | GCAGTCGC others(736): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0036 | 1 | 40 | 0.0250 | -743 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805525 | TCCCCCCT others(736): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 314 | 0.0032 | -743 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1239 | chr2 | TogoVar | ||||||
| GALNS_chr16_88808734_88861947 | 88851025 | TTCTGAGG others(736): Show |
T | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201 | 1 | 404 | 0.0025 | -743 | c.120 others(17): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
| IDI1_chr10_1034419_1054119 | 1046827 | CTGTCTAC others(736): Show |
C | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 438 | 0.0023 | -743 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| METTL16_chr17_2411049_2516888 | 2500846 | ATGGCTCA others(736): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 298 | 0.0034 | -743 | c.128 others(16): Show |
METTL16 | ENSG00000127804.13 | transcript | ENST00000263092.11 | protein_coding | 2/9 | chr17 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805525 | TCCCCCCT others(736): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp2 NA18966.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0003a0004c0009t0001 | a0001c0001t0003g0010a0004c0009t0001g0164 | 2 | 319 | 0.0063 | -743 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3667 | chr2 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149661 | ACTCCTAC others(736): Show |
A | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 294 | 0.0034 | -743 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149885 | CTACCACA others(736): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 294 | 0.0034 | -743 | c.902 others(16): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PPP6R2_chr22_50338327_50450090 | 50433797 | TGCTGGGC others(736): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0278a0001c0002t0011g0279a0001c0002t0011g0294 | 3 | 340 | 0.0088 | -743 | c.140 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393347 | GGGGAAGG others(736): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0009 | a0002c0009t0034 | a0002c0009t0034g0111 | 1 | 346 | 0.0029 | -743 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393895 | AGGTGGTC others(736): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0231 | 1 | 346 | 0.0029 | -743 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639517 | ACATGAGG others(735): Show |
A | intron_variant | MODIFIER | HG02155.hp1 HG02165.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0039a0001c0003t0001g0107 | 2 | 223 | 0.0090 | -742 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CPM_chr12_68846175_68938171 | 68861995 | TTTAATAG others(735): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00741.hp1 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0002a0001c0004t0002a0001c0004t0005others(30): Show | a0001c0001t0002g0303a0001c0004t0002g0038a0001c0004t0005g0061others(54): Show | 58 | 340 | 0.1706 | -742 | c.941 others(17): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 7/8 | chr12 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137566336 | TCTGTCTG others(735): Show |
T | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 340 | 0.0029 | -742 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805520 | CTCCCTCC others(735): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0146 | 1 | 314 | 0.0032 | -742 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1234 | chr2 | TogoVar |