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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB11FIP3_chr16_420649_528011 | 504279 | C | CTCCCATC others(950): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0167 | 1 | 147 | 0.0068 | 957 | c.139 others(976): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(950): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 10 | 0.1000 | 957 | c.-48 others(968): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(950): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02976.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 12 | 0.2500 | 957 | c.-48 others(968): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(950): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 957 | c.-48 others(968): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(950): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 10 | 0.1000 | 957 | c.-48 others(968): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668881 | T | TCCCCTCA others(950): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0055 | 1 | 249 | 0.0040 | 957 | c.249 others(976): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248627 | G | GGTGCATC others(950): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0024a0001c0003t0057a0001c0003t0082 | a0001c0003t0024g0029 a0001c0003t0024g0030 a0001c0003t0057g0151 others(1): Show |
4 | 207 | 0.0193 | 957 | c.*12 others(970): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2577 | chr11 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1168035 | G | GGCAGAAC others(950): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG03453.hp1 others(1): Show |
a0003 | a0003c0007 | a0003c0007t0001a0003c0007t0002 | a0003c0007t0001g0007 a0003c0007t0001g0104 a0003c0007t0002g0075 others(1): Show |
4 | 183 | 0.0219 | 957 | c.499 others(974): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1168035 | G | GGCAGAAC others(950): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0153 | 1 | 180 | 0.0056 | 957 | c.499 others(974): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(950): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 3 | 0.3333 | 957 | c.597 others(974): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 62058768 | C | CGGGGGGC others(950): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 237 | 0.0042 | 957 | c.136 others(976): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
TLCD5_chr11_120320299_120338686 | 120328679 | G | GTGTGTGT others(950): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 4 | 425 | 0.0094 | 957 | c.199 others(974): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(950): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 262 | 0.0038 | 957 | c.199 others(974): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(950): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18977.hp2 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 4 | 265 | 0.0151 | 957 | c.199 others(974): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028882 | A | AAAGACCC others(950): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 | 1 | 78 | 0.0128 | 957 | c.225 others(976): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46293658 | A | ACAGCCAC others(950): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 314 | 0.0032 | 957 | c.339 others(974): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(951): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0010 | 1 | 12 | 0.0833 | 958 | c.387 others(977): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(951): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0117 | 1 | 200 | 0.0050 | 958 | c.535 others(975): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(951): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0110 | 1 | 112 | 0.0089 | 958 | c.48- others(975): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888308 | C | CCCTGCCT others(951): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01891.hp1 HG02895.hp1 others(3): Show |
a0015a0020a0053 | a0015c0022a0015c0061a0020c0024others(1): Show | a0015c0022t0001a0015c0061t0001a0020c0024t0001others(1): Show | a0015c0022t0001g0211 a0015c0022t0001g0212 a0015c0061t0001g0210 others(3): Show |
6 | 243 | 0.0247 | 958 | c.330 others(977): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(951): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0221 | 1 | 83 | 0.0120 | 958 | c.724 others(977): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315520 | A | ATCACCAC others(951): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0203 | 1 | 246 | 0.0041 | 958 | c.259 others(977): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(951): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18947.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 a0002c0002t0001g0170 |
2 | 6 | 0.3333 | 958 | c.278 others(977): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806229 | C | CCCTCCCC others(951): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 278 | 0.0036 | 958 | c.*20 others(969): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1943 | chr2 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180300019 | C | CCGTGATA others(951): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 HG03471.hp1 HG03579.hp2 |
a0001a0005 | a0001c0004a0005c0010 | a0001c0004t0020a0005c0010t0001 | a0001c0004t0020g0359 a0005c0010t0001g0132 a0005c0010t0001g0133 |
3 | 390 | 0.0077 | 958 | c.*15 others(969): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 678 | chr5 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(951): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 309 | 0.0032 | 958 | c.94- others(971): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGLON5_chr19_51306644_51335891 | 51321034 | T | TATGTGTG others(951): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 416 | 0.0024 | 958 | c.80- others(971): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997332 | A | ATGGGGGG others(951): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 357 | 0.0028 | 958 | c.-21 others(969): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 338 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(951): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0016 | a0016c0035 | a0016c0035t0001 | a0016c0035t0001g0174 | 1 | 31 | 0.0323 | 958 | c.956 others(975): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507062 | A | AGGGGTAG others(951): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 132 | 0.0076 | 958 | c.624 others(975): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19477975 | G | GAGAGGGA others(951): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0014 | a0014c0019 | a0014c0019t0003 | a0014c0019t0003g0098 | 1 | 159 | 0.0063 | 958 | c.525 others(975): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(951): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0060 | 1 | 32 | 0.0313 | 958 | c.218 others(973): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(951): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0018 | a0001c0018t0004 | a0001c0018t0004g0191 | 1 | 8 | 0.1250 | 958 | c.115 others(975): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(951): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0215 | 1 | 64 | 0.0156 | 958 | c.225 others(975): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(951): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0219 | 1 | 215 | 0.0047 | 958 | c.241 others(977): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(951): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0137 | 1 | 210 | 0.0048 | 958 | c.-5+ others(973): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250615 | C | CTGAGGCA others(951): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 185 | 0.0054 | 958 | c.677 others(973): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806229 | C | CCCTCCCC others(951): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 286 | 0.0035 | 958 | c.-30 others(969): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2963 | chr2 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(951): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01496.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0003a0001c0008t0009 | a0001c0003t0003g0316 a0001c0008t0009g0315 |
2 | 284 | 0.0070 | 958 | c.141 others(975): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(951): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01168.hp2 |
a0001 | a0001c0003a0001c0035 | a0001c0003t0001a0001c0035t0001 | a0001c0003t0001g0199 a0001c0035t0001g0198 |
2 | 284 | 0.0070 | 958 | c.141 others(975): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 174 | 0.0057 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | NA18977.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0060 a0001c0001t0005g0061 |
2 | 175 | 0.0114 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00735.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 others(9): Show |
12 | 185 | 0.0649 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 174 | 0.0057 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 174 | 0.0057 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 174 | 0.0057 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 174 | 0.0057 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 174 | 0.0057 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0114 | 1 | 174 | 0.0057 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(951): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02074.hp2 NA18942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0287 others(3): Show |
6 | 179 | 0.0335 | 958 | c.66+ others(973): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |