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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FIG4_chr6_109686296_109830426 | 109781773 | C | CAGATTTT others(280): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0002a0001c0003t0001a0004c0006t0001 | a0001c0001t0002g0217 a0001c0003t0001g0047 a0001c0003t0001g0258 others(5): Show |
8 | 267 | 0.0300 | 287 | c.189 others(306): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(280): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0000 | 1 | 114 | 0.0088 | 287 | c.*33 others(298): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 162144964 | T | TTATACAA others(280): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 NA18964.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0012a0001c0002t0018others(1): Show | a0001c0001t0001g0090 a0001c0001t0012g0089 a0001c0002t0018g0088 others(1): Show |
4 | 109 | 0.0367 | 287 | c.-17 others(306): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 162145051 | C | CAATGAAT others(280): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 140 | 0.0071 | 287 | c.-17 others(306): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806841 | C | CCCTCCCC others(280): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 310 | 0.0032 | 287 | c.*26 others(298): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2555 | chr2 | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308214 | C | CCACCACC others(280): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018 | 1 | 380 | 0.0026 | 287 | c.961 others(304): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308214 | C | CCACCACC others(280): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01975.hp1 HG02074.hp2 others(15): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0006a0001c0003t0009others(2): Show | a0001c0003t0001g0018 a0001c0003t0001g0042 a0001c0003t0001g0055 others(15): Show |
18 | 397 | 0.0453 | 287 | c.961 others(304): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308214 | C | CCACCACC others(280): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 1 | 380 | 0.0026 | 287 | c.961 others(304): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308214 | C | CCACCACC others(280): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0316 | 1 | 380 | 0.0026 | 287 | c.961 others(304): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GNG8_chr19_46628953_46641202 | 46635646 | G | GTGGGGTG others(280): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 392 | 0.0026 | 287 | c.-44 others(302): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217524862 | G | GGAAGAGG others(280): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0031 | 1 | 149 | 0.0067 | 287 | c.109 others(306): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPR137B_chr1_236137539_236213907 | 236186262 | T | TTATATAT others(280): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0001g0072 a0001c0001t0001g0074 others(9): Show |
12 | 203 | 0.0591 | 287 | c.966 others(304): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GPR137B_chr1_236137539_236213907 | 236186262 | T | TTATATAT others(280): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0366 | 1 | 192 | 0.0052 | 287 | c.966 others(304): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106787587 | A | AGGAAAGG others(280): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0055 a0001c0001t0009g0056 |
2 | 9 | 0.2222 | 287 | c.169 others(308): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 5/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106787587 | A | AGGAAGGG others(280): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 others(53): Show |
56 | 63 | 0.8889 | 287 | c.169 others(308): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 5/7 | chr11 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 182788 | G | GTGAAACA others(280): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0002g0001 |
4 | 239 | 0.0167 | 287 | c.*16 others(298): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 1610 | chr16 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241264041 | T | TAAGAAAG others(280): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0017 | 1 | 331 | 0.0030 | 287 | c.234 others(302): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399408 | A | ACCACCAT others(280): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 302 | 0.0033 | 287 | c.-25 others(304): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HRH3_chr20_62209960_62225278 | 62213280 | G | GGGGAGGG others(280): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0017 | 1 | 162 | 0.0062 | 287 | c.*27 others(298): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1679 | chr20 | TogoVar | |||||||
IL18RAP_chr2_102418160_102457565 | 102425519 | T | TCAATAAA others(280): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 404 | 0.0025 | 287 | c.579 others(304): Show |
IL18RAP | ENSG00000115607.10 | transcript | ENST00000687160.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(280): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 54 | 0.0185 | 287 | c.25- others(302): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161230 | G | GGTGGGCC others(280): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0030 | 1 | 121 | 0.0083 | 287 | c.222 others(306): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210718378 | G | GCATATAT others(280): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 a0001c0002t0001g0144 |
2 | 141 | 0.0142 | 287 | c.211 others(308): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758770 | T | TATATATA others(280): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 204 | 0.0049 | 287 | c.-67 others(306): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB4_chr12_70361290_70439292 | 70395138 | T | TCCAGTAG others(280): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01361.hp1 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 others(3): Show |
6 | 345 | 0.0174 | 287 | c.337 others(304): Show |
KCNMB4 | ENSG00000135643.5 | transcript | ENST00000258111.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5131538 | A | AGGGGCAG others(280): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0011 | a0011c0035 | a0011c0035t0012 | a0011c0035t0012g0159 | 1 | 237 | 0.0042 | 287 | c.178 others(304): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(280): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0066 | 1 | 162 | 0.0062 | 287 | c.178 others(304): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45228973 | C | CCACTCAC others(280): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0260 | 1 | 350 | 0.0029 | 287 | c.64+ others(304): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA1549_chr7_138826381_138986389 | 138878761 | C | CAAAAAAA others(280): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG03831.hp2 others(1): Show |
a0002a0003a0004 | a0002c0025a0003c0006a0004c0007 | a0002c0025t0079a0003c0006t0074a0003c0006t0077others(1): Show | a0002c0025t0079g0094 a0003c0006t0074g0100 a0003c0006t0077g0099 others(1): Show |
4 | 191 | 0.0209 | 287 | c.434 others(304): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245600127 | T | TTCCCGGG others(280): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0031 | 1 | 76 | 0.0132 | 287 | c.135 others(306): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504186 | C | CCCCCCCC others(280): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0017 | 1 | 410 | 0.0024 | 287 | c.171 others(304): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19238498 | A | ATTATATA others(280): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0023 | a0023c0095 | a0023c0095t0001 | a0023c0095t0001g0040 | 1 | 112 | 0.0089 | 287 | c.299 others(308): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | chr10 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894631 | T | TATATATA others(280): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0049 | 1 | 101 | 0.0099 | 287 | c.-38 others(306): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97329640 | C | CACACACA others(280): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0116 a0001c0001t0001g0130 a0001c0001t0001g0183 others(9): Show |
12 | 13 | 0.9231 | 287 | c.175 others(304): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113011630 | T | TGGACGGT others(280): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01361.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0094 a0001c0003t0001g0086 a0001c0005t0001g0079 others(2): Show |
5 | 104 | 0.0481 | 287 | c.80- others(302): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94332683 | A | AGAAATTT others(280): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 | 1 | 269 | 0.0037 | 287 | c.638 others(304): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090298 | A | ACACACAC others(280): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0251 | 1 | 255 | 0.0039 | 287 | c.557 others(304): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237545053 | G | GTGAGTGG others(280): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18906.hp1 |
a0028a0034 | a0028c0041a0034c0040 | a0028c0041t0002a0034c0040t0001 | a0028c0041t0002g0265 a0034c0040t0001g0266 |
2 | 191 | 0.0105 | 287 | c.154 others(306): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767778 | G | GGTCGCGT others(280): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0004 | a0004c0016 | a0004c0016t0001 | a0004c0016t0001g0258 | 1 | 380 | 0.0026 | 287 | c.159 others(304): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195784541 | T | TGGATACT others(280): Show |
frameshift_variant | HIGH | NA18988.hp1 | a0113 | a0113c0080 | a0113c0080t0001 | a0113c0080t0001g0103 | 1 | 140 | 0.0071 | 287 | c.703 others(296): Show |
p.Thr others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7150/16756 | 7038/16239 | 2346/5412 | chr3 | TogoVar | |||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGATGGT others(280): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 4 | 0.2500 | 287 | c.160 others(304): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGC others(280): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0068 | a0002c0002t0068g0273 | 1 | 4 | 0.2500 | 287 | c.160 others(304): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(280): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0296 | 1 | 4 | 0.2500 | 287 | c.160 others(304): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 109023374 | A | ATATATTA others(280): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19240.hp1 |
a0002a0024 | a0002c0001a0024c0036 | a0002c0001t0001a0024c0036t0001 | a0002c0001t0001g0139 a0024c0036t0001g0140 |
2 | 117 | 0.0171 | 287 | c.279 others(306): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136023108 | G | GGAGGGAG others(280): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0145 | 1 | 7 | 0.1429 | 287 | c.887 others(304): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504186 | C | CCCCCCCC others(280): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 378 | 0.0026 | 287 | c.-41 others(298): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4037 | chr22 | TogoVar | |||||||
NDST4_chr4_114822763_115118620 | 114976961 | T | TGGGAGGC others(280): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0095 | 1 | 183 | 0.0055 | 287 | c.106 others(304): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
NEK7_chr1_198151998_198327420 | 198274158 | T | TTCTAGTT others(280): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0338 | 1 | 253 | 0.0040 | 287 | c.373 others(304): Show |
NEK7 | ENSG00000151414.15 | transcript | ENST00000367385.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241806841 | C | CCCTCCCC others(280): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0103 | 1 | 314 | 0.0032 | 287 | c.-24 others(298): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2351 | chr2 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532183 | A | ACCCCTCG others(280): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0036 | 1 | 302 | 0.0033 | 287 | c.*46 others(298): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2861 | chr18 | TogoVar |