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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRCH3_chr3_197786254_197893436 | 197876806 | A | ACAGTGAT others(389): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0148 | 1 | 261 | 0.0038 | 396 | c.220 others(415): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877223 | C | CTCACCGC others(389): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0016 | 1 | 277 | 0.0036 | 396 | c.220 others(415): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877562 | A | ACAGTGAT others(389): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0004 | a0004c0009 | a0004c0009t0068 | a0004c0009t0068g0163 | 1 | 258 | 0.0039 | 396 | c.220 others(415): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24602247 | T | TATATGTA others(389): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0002 | 1 | 85 | 0.0118 | 396 | c.62+ others(415): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24602247 | T | TATATGTA others(389): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 85 | 0.0118 | 396 | c.62+ others(415): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238523 | T | TATTATAT others(389): Show |
intron_variant | MODIFIER | HG03491.hp1 NA20905.hp2 |
a0002a0083 | a0002c0004a0083c0033 | a0002c0004t0001a0083c0033t0001 | a0002c0004t0001g0054 a0083c0033t0001g0103 |
2 | 141 | 0.0142 | 396 | c.299 others(417): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579289 | T | TCACCACC others(389): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 266 | 0.0038 | 396 | c.391 others(411): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583340 | G | GCGCAGCC others(389): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0041 | a0041c0023 | a0041c0023t0001 | a0041c0023t0001g0169 | 1 | 235 | 0.0043 | 396 | c.377 others(413): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583576 | G | GCAGCCAC others(389): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02040.hp2 |
a0004a0014 | a0004c0004a0014c0012 | a0004c0004t0002a0014c0012t0002 | a0004c0004t0002g0023 a0014c0012t0002g0092 |
2 | 254 | 0.0079 | 396 | c.377 others(413): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3596552 | G | GTCTCCAC others(389): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0072 | a0072c0073 | a0072c0073t0031 | a0072c0073t0031g0290 | 1 | 290 | 0.0034 | 396 | c.267 others(413): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 2/36 | chr1 | TogoVar | |||||||
MFSD1_chr3_158797054_158834716 | 158829106 | C | CCAAATAT others(389): Show |
3_prime_UTR_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0084 | 1 | 400 | 0.0025 | 396 | c.*14 others(405): Show |
MFSD1 | ENSG00000118855.21 | transcript | ENST00000415822.8 | protein_coding | 16/16 | 141 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876824 | G | GGTTATGG others(389): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0013 | 1 | 252 | 0.0040 | 396 | c.224 others(415): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876836 | T | TAGAGAAG others(389): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0008 | a0008c0009 | a0008c0009t0003 | a0008c0009t0003g0187 | 1 | 267 | 0.0037 | 396 | c.224 others(415): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876851 | G | GCTTATGG others(389): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0037 | a0001c0037t0003 | a0001c0037t0003g0188 | 1 | 260 | 0.0038 | 396 | c.224 others(415): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877036 | G | GGGAAGTT others(389): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 212 | 0.0047 | 396 | c.224 others(415): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877439 | G | GAGGGAGG others(389): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0030 | a0030c0043 | a0030c0043t0001 | a0030c0043t0001g0097 | 1 | 216 | 0.0046 | 396 | c.224 others(415): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MRPS9_chr2_105033069_105104960 | 105054579 | A | ACCCCTTT others(389): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18949.hp1 NA18967.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(1): Show |
4 | 193 | 0.0207 | 396 | c.315 others(413): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105054579 | A | ACCCCTTT others(389): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 190 | 0.0053 | 396 | c.315 others(413): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105054579 | A | ACCCCTTT others(389): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 190 | 0.0053 | 396 | c.315 others(413): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(389): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 a0001c0001t0001g0183 |
2 | 148 | 0.0135 | 396 | c.315 others(413): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(389): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0039 | 1 | 147 | 0.0068 | 396 | c.315 others(413): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(389): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 147 | 0.0068 | 396 | c.315 others(413): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(389): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 218 | 0.0046 | 396 | c.159 others(413): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99589009 | A | ATATATGT others(389): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0092 | 1 | 347 | 0.0029 | 396 | c.394 others(411): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
MYL2_chr12_110905845_110925579 | 110905917 | A | ATATATAA others(389): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 117 | 0.0085 | 396 | c.*51 others(407): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4927 | chr12 | TogoVar | |||||||
MYL2_chr12_110905845_110925579 | 110905991 | T | TATATAAT others(389): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 NA18984.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 355 | 0.0085 | 396 | c.*50 others(407): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4853 | chr12 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(389): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 196 | 0.0051 | 396 | c.-28 others(407): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
NELFB_chr9_137250327_137278542 | 137273768 | A | AATAATTT others(389): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01167.hp2 NA20805.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0056 a0001c0002t0002g0059 |
3 | 8 | 0.3750 | 396 | c.*84 others(405): Show |
NELFB | ENSG00000188986.9 | transcript | ENST00000343053.6 | protein_coding | 227 | chr9 | TogoVar | |||||||
NELFB_chr9_137250327_137278542 | 137273768 | A | AATAATTT others(389): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 NA18955.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0013 a0001c0002t0002g0088 others(1): Show |
5 | 10 | 0.5000 | 396 | c.*84 others(405): Show |
NELFB | ENSG00000188986.9 | transcript | ENST00000343053.6 | protein_coding | 227 | chr9 | TogoVar | |||||||
NELFB_chr9_137250327_137278542 | 137273768 | A | AATAATTT others(389): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 6 | 0.1667 | 396 | c.*84 others(405): Show |
NELFB | ENSG00000188986.9 | transcript | ENST00000343053.6 | protein_coding | 227 | chr9 | TogoVar | |||||||
NELFB_chr9_137250327_137278542 | 137273768 | A | AATAATTT others(389): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(128): Show |
206 | 211 | 0.9763 | 396 | c.*84 others(405): Show |
NELFB | ENSG00000188986.9 | transcript | ENST00000343053.6 | protein_coding | 227 | chr9 | TogoVar | |||||||
NELFB_chr9_137250327_137278542 | 137273768 | A | AATAATTT others(389): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 6 | 0.1667 | 396 | c.*84 others(405): Show |
NELFB | ENSG00000188986.9 | transcript | ENST00000343053.6 | protein_coding | 227 | chr9 | TogoVar | |||||||
NEXN_chr1_77883624_77948895 | 77887932 | T | TCCTCTTC others(389): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 126 | 0.0079 | 396 | c.-88 others(405): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 691 | chr1 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232900772 | T | TGTCACTC others(389): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02647.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0013 | a0001c0001t0015a0001c0001t0025a0001c0005t0001others(1): Show | a0001c0001t0015g0182 a0001c0001t0015g0192 a0001c0001t0015g0193 others(6): Show |
9 | 346 | 0.0260 | 396 | c.829 others(413): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(389): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 118 | 0.0085 | 396 | c.-75 others(415): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993533 | C | CCCCCTCC others(389): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0032 | a0032c0038 | a0032c0038t0027 | a0032c0038t0027g0153 | 1 | 311 | 0.0032 | 396 | c.*56 others(407): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4905 | chr19 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(389): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 157 | 0.0064 | 396 | c.91+ others(409): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(389): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 157 | 0.0064 | 396 | c.91+ others(409): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149094 | T | TACCACAC others(389): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 176 | 0.0057 | 396 | c.901 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149256 | C | CGCCGCCT others(389): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0004 | a0004c0041 | a0004c0041t0001 | a0004c0041t0001g0002 | 1 | 275 | 0.0036 | 396 | c.901 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149446 | C | CACCACAC others(389): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0129 | 1 | 233 | 0.0043 | 396 | c.901 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149705 | A | ACTCCTAC others(389): Show |
intron_variant | MODIFIER | NA19065.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 179 | 0.0112 | 396 | c.901 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149749 | G | GCTCATAC others(389): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 243 | 0.0041 | 396 | c.901 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150365 | C | CACCACAC others(389): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 241 | 0.0041 | 396 | c.902 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150584 | A | ACACCACA others(389): Show |
intron_variant | MODIFIER | NA19065.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 250 | 0.0080 | 396 | c.902 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150672 | A | ACACCACA others(389): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0008 | a0008c0025 | a0008c0025t0001 | a0008c0025t0001g0106 | 1 | 236 | 0.0042 | 396 | c.902 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(389): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 190 | 0.0053 | 396 | c.902 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(389): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 190 | 0.0053 | 396 | c.902 others(411): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOS3_chr7_150986017_151019588 | 150995593 | C | CCCCCATC others(389): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 4 | 0.2500 | 396 | c.270 others(411): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528378 | A | ATGGGCAG others(389): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02965.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0016a0001c0058 | a0001c0016t0012a0001c0016t0020a0001c0058t0021 | a0001c0016t0012g0017 a0001c0016t0012g0021 a0001c0016t0020g0019 others(1): Show |
4 | 273 | 0.0147 | 396 | c.141 others(413): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar |