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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRPS10_chr6_42201807_42222861 | 42216385 | A | AGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 404 | 0.0025 | 26 | c.48+ others(41): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
MRPS14_chr1_175007958_175028425 | 175027168 | A | AATATATA others(19): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 398 | 0.0050 | 26 | c.-37 others(37): Show |
MRPS14 | ENSG00000120333.4 | transcript | ENST00000476371.1 | protein_coding | 3744 | chr1 | TogoVar | ||||||
MRPS22_chr3_139339020_139362129 | 139361474 | T | TATACAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0058 | 2 | 310 | 0.0065 | 26 | c.*44 others(37): Show |
MRPS22 | ENSG00000175110.14 | transcript | ENST00000680020.1 | protein_coding | 4346 | chr3 | TogoVar | ||||||
MRPS23_chr17_57829781_57855044 | 57838289 | C | CAAAAAAA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0179 | 1 | 396 | 0.0025 | 26 | c.*14 others(37): Show |
MRPS23 | ENSG00000181610.13 | transcript | ENST00000313608.13 | protein_coding | 5/5 | 1493 | chr17 | TogoVar | |||||
MRPS28_chr8_79913717_80035259 | 80028648 | G | GCGGGGGG others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0275 | 1 | 300 | 0.0033 | 26 | c.213 others(43): Show |
MRPS28 | ENSG00000147586.10 | transcript | ENST00000276585.9 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
MRPS33_chr7_140997610_141019952 | 141000202 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 1 | 340 | 0.0029 | 26 | c.*62 others(37): Show |
MRPS33 | ENSG00000090263.16 | transcript | ENST00000324787.10 | protein_coding | 2407 | chr7 | TogoVar | ||||||
MRPS35_chr12_27705832_27761295 | 27751125 | A | AAAAGAAA others(19): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 358 | 0.0028 | 26 | c.703 others(43): Show |
MRPS35 | ENSG00000061794.13 | transcript | ENST00000081029.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MRPS36_chr5_69212760_69235158 | 69218470 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 409 | 0.0024 | 26 | c.42+ others(39): Show |
MRPS36 | ENSG00000134056.12 | transcript | ENST00000256441.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MRPS9_chr2_105033069_105104960 | 105084247 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02258.hp2 HG02523.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0150a0001c0001t0001g0180a0001c0001t0001g0184others(6): Show | 9 | 394 | 0.0228 | 26 | c.489 others(43): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRRF_chr9_122259882_122336337 | 122304062 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0239 | 1 | 264 | 0.0038 | 26 | c.552 others(43): Show |
MRRF | ENSG00000148187.18 | transcript | ENST00000344641.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40409938 | C | CCCCACCA others(19): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206 | 1 | 256 | 0.0039 | 26 | c.*14 others(37): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 350 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40431037 | T | TATTTTAA others(19): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 256 | 0.0039 | 26 | c.439 others(41): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 6/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40459824 | T | TACATATA others(19): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0118 | 1 | 256 | 0.0039 | 26 | c.307 others(43): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 4/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40459862 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03239.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0021a0001c0002t0001g0152 | 2 | 256 | 0.0078 | 26 | c.307 others(43): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 4/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40470231 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0123 | 1 | 256 | 0.0039 | 26 | c.242 others(43): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40498273 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0254 | 1 | 256 | 0.0039 | 26 | c.242 others(45): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFB_chr16_14066319_14271773 | 14168217 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 240 | 0.0042 | 26 | c.154 others(45): Show |
MRTFB | ENSG00000186260.17 | transcript | ENST00000571589.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MS4A13_chr11_60510392_60547721 | 60522239 | G | GATAGATG others(19): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02717.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0197a0001c0001t0001g0199a0001c0001t0001g0202others(3): Show | 6 | 422 | 0.0142 | 26 | c.130 others(43): Show |
MS4A13 | ENSG00000204979.8 | transcript | ENST00000378186.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MS4A13_chr11_60510392_60547721 | 60522239 | G | GATGTATA others(19): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0045 | 1 | 422 | 0.0024 | 26 | c.130 others(43): Show |
MS4A13 | ENSG00000204979.8 | transcript | ENST00000378186.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MS4A4E_chr11_60195270_60248137 | 60232284 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0102 | 1 | 410 | 0.0024 | 26 | c.-16 others(43): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693051 | A | AGATAAAT others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01069.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0004a0004c0005others(1): Show | a0001c0002t0001a0003c0004t0004a0003c0004t0025others(2): Show | a0001c0002t0001g0045a0001c0002t0001g0048a0001c0002t0001g0097others(15): Show | 19 | 362 | 0.0525 | 26 | c.134 others(47): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693085 | A | AGATAAAT others(19): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03239.hp1 HG03490.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0007a0004c0005t0007 | a0001c0001t0007g0223a0004c0005t0007g0275a0004c0005t0007g0276 | 3 | 362 | 0.0083 | 26 | c.134 others(47): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693151 | A | AGATAAAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0354 | 1 | 362 | 0.0028 | 26 | c.134 others(47): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693185 | A | AGATAAAT others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19043.hp2 NA20129.hp2 |
a0001a0005a0007 | a0001c0001a0005c0006a0007c0008 | a0001c0001t0005a0005c0006t0003a0007c0008t0005 | a0001c0001t0005g0025a0005c0006t0003g0357a0007c0008t0005g0016 | 3 | 362 | 0.0083 | 26 | c.134 others(47): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693219 | A | AGATAAAT others(19): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026a0001c0001t0005g0027 | 2 | 362 | 0.0055 | 26 | c.134 others(47): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693253 | A | AGATAAAT others(19): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 HG02886.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0185a0002c0003t0003g0187a0002c0003t0003g0188others(4): Show | 7 | 362 | 0.0193 | 26 | c.134 others(47): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693321 | A | AGATAAAT others(19): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0003 | a0002c0003t0031 | a0002c0003t0031g0210 | 1 | 362 | 0.0028 | 26 | c.134 others(47): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693347 | A | ATGTTTAT others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0032 | a0032c0031 | a0032c0031t0005 | a0032c0031t0005g0022 | 1 | 362 | 0.0028 | 26 | c.134 others(47): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80693460 | C | CATGCACA others(19): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01993.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0022a0001c0002t0001a0002c0003t0003others(4): Show | a0001c0001t0022g0304a0001c0002t0001g0144a0002c0003t0003g0196others(14): Show | 17 | 362 | 0.0470 | 26 | c.134 others(47): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80750078 | A | AGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0007 | 1 | 362 | 0.0028 | 26 | c.176 others(45): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80784212 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18952.hp1 NA18998.hp2 others(1): Show |
a0001a0006 | a0001c0002a0006c0042 | a0001c0002t0001a0006c0042t0005 | a0001c0002t0001g0103a0001c0002t0001g0136a0001c0002t0001g0146others(1): Show | 4 | 362 | 0.0111 | 26 | c.243 others(45): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80808858 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02723.hp2 |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0024 | a0003c0004t0004g0231a0003c0004t0024g0245 | 2 | 362 | 0.0055 | 26 | c.265 others(45): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80808861 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01099.hp1 others(25): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0005others(1): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0026others(3): Show | a0001c0001t0006g0325a0001c0001t0006g0326a0001c0001t0006g0327others(25): Show | 28 | 362 | 0.0774 | 26 | c.265 others(45): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80808873 | A | ATCTATAT others(19): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01981.hp2 HG02027.hp2 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0002a0002c0003a0004c0005others(3): Show | a0001c0002t0016a0002c0003t0012a0004c0005t0007others(3): Show | a0001c0002t0016g0130a0002c0003t0012g0194a0004c0005t0007g0002others(13): Show | 17 | 362 | 0.0470 | 26 | c.265 others(45): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80810172 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02647.hp1 HG03486.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0184a0002c0003t0003g0190a0002c0003t0003g0191others(1): Show | 4 | 362 | 0.0111 | 26 | c.265 others(45): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75854011 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG01981.hp2 others(8): Show |
a0001a0002a0007 | a0001c0002a0002c0003a0007c0013 | a0001c0002t0001a0002c0003t0001a0007c0013t0001 | a0001c0002t0001g0002a0002c0003t0001g0017a0002c0003t0001g0090others(8): Show | 11 | 332 | 0.0331 | 26 | c.123 others(45): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75854013 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0210a0001c0001t0001g0218others(4): Show | 7 | 332 | 0.0211 | 26 | c.123 others(45): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75885059 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0178 | 1 | 332 | 0.0030 | 26 | c.210 others(45): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75907684 | C | CTCTCTAT others(19): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0083 | 1 | 332 | 0.0030 | 26 | c.262 others(45): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75907684 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0329 | 1 | 332 | 0.0030 | 26 | c.262 others(45): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH5_chr6_31735005_31767676 | 31746080 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01361.hp1 HG02027.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0006 | a0001c0002t0001a0002c0003t0001a0003c0006t0001 | a0001c0002t0001g0124a0001c0002t0001g0125a0001c0002t0001g0137others(3): Show | 6 | 397 | 0.0151 | 26 | c.766 others(41): Show |
MSH5 | ENSG00000204410.16 | transcript | ENST00000375750.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MSH5_chr6_31735005_31767676 | 31746113 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0312 | 1 | 397 | 0.0025 | 26 | c.766 others(41): Show |
MSH5 | ENSG00000204410.16 | transcript | ENST00000375750.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MSI2_chr17_57251523_57689689 | 57502636 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013a0001c0001t0021others(2): Show | a0001c0001t0009g0132a0001c0001t0013g0131a0001c0001t0021g0078others(2): Show | 5 | 168 | 0.0298 | 26 | c.406 others(45): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MSI2_chr17_57251523_57689689 | 57583488 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02083.hp1 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0039others(1): Show | a0001c0001t0002g0099a0001c0001t0005g0043a0001c0001t0039g0012others(1): Show | 4 | 168 | 0.0238 | 26 | c.455 others(45): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MSL1_chr17_40116971_40141917 | 40140317 | A | AACACACA others(19): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 356 | 0.0028 | 26 | c.*59 others(37): Show |
MSL1 | ENSG00000188895.12 | transcript | ENST00000398532.9 | protein_coding | 3401 | chr17 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767752 | G | GCGCGTGG others(19): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0213 | 1 | 388 | 0.0026 | 26 | c.159 others(43): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767752 | G | GCGCGTGG others(19): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01192.hp2 others(30): Show |
a0000a0001a0002others(7): Show | a0000c0039a0001c0001a0001c0022others(9): Show | a0000c0039t0008a0001c0001t0001a0001c0022t0001others(10): Show | a0000c0039t0008g0146a0001c0001t0001g0110a0001c0001t0001g0116others(30): Show | 33 | 388 | 0.0851 | 26 | c.159 others(43): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767755 | C | CGTGGAGG others(19): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0345 | 1 | 388 | 0.0026 | 26 | c.159 others(43): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767786 | T | TGGGGGTG others(19): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 388 | 0.0026 | 26 | c.159 others(43): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767881 | G | GGGGGGGG others(19): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0260 | 1 | 388 | 0.0026 | 26 | c.159 others(43): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar |