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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM242_chr6_157284025_157328519 | 157311890 | G | GTGTGCAG others(1012): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 311 | 0.0064 | 1019 | c.327 others(1036): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1012): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 51 | 0.0392 | 1019 | c.*24 others(1030): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1012): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 50 | 0.0200 | 1019 | c.*24 others(1030): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1013): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0150 | 1 | 201 | 0.0050 | 1020 | c.130 others(1039): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975324 | T | TATAAATA others(1013): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0287 | 1 | 271 | 0.0037 | 1020 | c.130 others(1039): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581470 | A | ATATATAT others(1013): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0162 | 1 | 167 | 0.0060 | 1020 | c.48- others(1037): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1013): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 3 | 0.3333 | 1020 | c.787 others(1035): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687370 | C | CCCCGTGA others(1013): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 227 | 0.0044 | 1020 | c.-17 others(1031): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1525 | chr8 | TogoVar | |||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1013): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282 | 1 | 8 | 0.1250 | 1020 | c.285 others(1039): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1013): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 8 | 0.1250 | 1020 | c.285 others(1039): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1013): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18957.hp2 NA18986.hp2 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0061 a0006c0007t0001g0020 a0006c0007t0001g0051 |
3 | 10 | 0.3000 | 1020 | c.285 others(1039): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1013): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 8 | 0.1250 | 1020 | c.285 others(1039): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1013): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 8 | 0.1250 | 1020 | c.285 others(1039): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1013): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 8 | 0.1250 | 1020 | c.285 others(1039): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1013): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19091.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0236 a0002c0003t0001g0310 |
2 | 9 | 0.2222 | 1020 | c.285 others(1039): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1633953 | A | AGTAGAGA others(1013): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 214 | 0.0047 | 1020 | c.787 others(1035): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1633953 | A | AGTAGAGA others(1013): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 214 | 0.0047 | 1020 | c.787 others(1035): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105238020 | G | GCAGCCCT others(1013): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 59 | 0.0169 | 1020 | c.694 others(1037): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105238185 | G | GTCCGCGT others(1013): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 69 | 0.0145 | 1020 | c.694 others(1037): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105238593 | G | GTCCGCGT others(1013): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 68 | 0.0147 | 1020 | c.694 others(1037): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531250 | C | CGAGCAGC others(1013): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 345 | 0.0029 | 1020 | c.-23 others(1031): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2140 | chr8 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539323 | G | GGACTTAA others(1013): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02040.hp1 HG02273.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0002a0001c0003t0008others(2): Show | a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0003t0002g0020 others(3): Show |
6 | 104 | 0.0577 | 1020 | c.139 others(1041): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(1013): Show |
intron_variant | MODIFIER | HG01074.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0071 | a0001c0001t0001g0133 a0001c0001t0071g0121 |
2 | 10 | 0.2000 | 1020 | c.565 others(1037): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(1013): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0037 | 1 | 243 | 0.0041 | 1020 | c.666 others(1035): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(1013): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 218 | 0.0046 | 1020 | c.666 others(1035): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1013): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 1 | 2 | 0.5000 | 1020 | c.-52 others(1041): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932745 | G | GAGAGGAA others(1013): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0028 | 1 | 342 | 0.0029 | 1020 | c.198 others(1037): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933405 | G | GAGAGGAG others(1013): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0010 | a0002c0001t0010g0158 | 1 | 340 | 0.0029 | 1020 | c.198 others(1035): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933425 | G | GAGAGGAA others(1013): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0001 | a0002c0001t0133 | a0002c0001t0133g0319 | 1 | 331 | 0.0030 | 1020 | c.198 others(1035): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89635051 | T | TCCTTTCC others(1013): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 213 | 0.0047 | 1020 | c.105 others(1035): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1013): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18946.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0206 |
3 | 75 | 0.0400 | 1020 | c.162 others(1039): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2377547 | C | CGCGAGCT others(1013): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 382 | 0.0026 | 1020 | c.215 others(1037): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1013): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 137 | 0.0073 | 1020 | c.-14 others(1039): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1013): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 137 | 0.0073 | 1020 | c.-14 others(1039): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1013): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01978.hp2 HG02055.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0002 | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0002g0128 others(2): Show |
5 | 141 | 0.0355 | 1020 | c.-14 others(1039): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252938 | C | CCACCACC others(1013): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 2 | 328 | 0.0061 | 1020 | c.666 others(1037): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(1013): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0293 | 1 | 286 | 0.0035 | 1020 | c.666 others(1037): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 310598 | C | CTGTCCTT others(1013): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18993.hp2 NA19055.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0027 a0003c0004t0002g0081 a0003c0004t0002g0082 others(1): Show |
4 | 77 | 0.0519 | 1020 | c.112 others(1037): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1013): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0083 | 1 | 46 | 0.0217 | 1020 | c.487 others(1035): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1013): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 63 | 0.0159 | 1020 | c.105 others(1037): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1013): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0025 | a0025c0060 | a0025c0060t0001 | a0025c0060t0001g0049 | 1 | 31 | 0.0323 | 1020 | c.956 others(1037): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531250 | C | CGAGCAGC others(1013): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 349 | 0.0029 | 1020 | c.-43 others(1031): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4218 | chr8 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(1013): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 10 | 0.1000 | 1020 | c.180 others(1039): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(1013): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 47 | 0.0213 | 1020 | c.483 others(1035): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CGCTCCCC others(1013): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0176 | 1 | 3 | 0.3333 | 1020 | c.-12 others(1039): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
NCEH1_chr3_172625249_172716067 | 172691440 | T | TGACTTTC others(1013): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 50 | 0.0200 | 1020 | c.138 others(1039): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(1013): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0018 | a0001c0018t0008 | a0001c0018t0008g0027 | 1 | 283 | 0.0035 | 1020 | c.141 others(1037): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(1013): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0018 | a0001c0001t0004a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0004g0127 a0001c0003t0001g0244 a0001c0003t0001g0253 others(9): Show |
12 | 294 | 0.0408 | 1020 | c.141 others(1037): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(1013): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0003a0001c0031a0001c0037 | a0001c0003t0001a0001c0003t0008a0001c0003t0030others(2): Show | a0001c0003t0001g0268 a0001c0003t0008g0014 a0001c0003t0030g0259 others(2): Show |
5 | 287 | 0.0174 | 1020 | c.141 others(1037): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
OR2T6_chr1_248370746_248396811 | 248383299 | T | TGTGTTTC others(1013): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03831.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004 | 2 | 301 | 0.0066 | 1020 | c.-15 others(1039): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |