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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD31_chr5_75063297_75241878 | 75206232 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG03688.hp1 HG03927.hp1 NA18948.hp2 others(2): Show |
a0001a0008 | a0001c0002a0008c0013 | a0001c0002t0001a0008c0013t0001 | a0001c0002t0001g0028 a0001c0002t0001g0034 a0008c0013t0001g0004 others(1): Show |
5 | 318 | 0.0157 | -46 | c.403 others(61): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75206236 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0065 a0001c0002t0003g0015 |
2 | 319 | 0.0063 | -46 | c.403 others(61): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95963971 | AAATATAT others(39): Show |
A | intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0238 | 1 | 296 | 0.0034 | -46 | c.800 others(63): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 6/87 | chr2 | TogoVar | |||||||
ANKRD40_chr17_50688198_50712914 | 50701107 | TCATATGC others(39): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(55): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0022 others(37): Show |
58 | 388 | 0.1495 | -46 | c.135 others(61): Show |
ANKRD40 | ENSG00000154945.7 | transcript | ENST00000285243.7 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
ANKRD7_chr7_118219704_118247732 | 118247450 | TTCTGTTT others(39): Show |
T | downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 404 | 0.0025 | -46 | c.*51 others(57): Show |
ANKRD7 | ENSG00000106013.15 | transcript | ENST00000265224.9 | protein_coding | 4719 | chr7 | TogoVar | |||||||
ANO8_chr19_17318223_17339855 | 17335812 | ACGCTTGT others(39): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 HG03491.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0005a0001c0003t0010 | a0001c0003t0003g0066 a0001c0003t0003g0069 a0001c0003t0005g0073 others(1): Show |
4 | 352 | 0.0114 | -46 | c.-11 others(57): Show |
ANO8 | ENSG00000074855.11 | transcript | ENST00000159087.7 | protein_coding | 958 | chr19 | TogoVar | |||||||
ANO8_chr19_17318223_17339855 | 17335813 | CGCTTGTT others(39): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00738.hp2 others(7): Show |
a0002 | a0002c0005a0002c0017 | a0002c0005t0005a0002c0005t0008a0002c0005t0010others(2): Show | a0002c0005t0005g0125 a0002c0005t0005g0126 a0002c0005t0008g0019 others(4): Show |
10 | 185 | 0.0541 | -46 | c.-11 others(57): Show |
ANO8 | ENSG00000074855.11 | transcript | ENST00000159087.7 | protein_coding | 959 | chr19 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36515020 | TCGGTCAT others(39): Show |
T | intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0174 | 1 | 304 | 0.0033 | -46 | c.160 others(65): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40888577 | CACAAGCT others(39): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0011a0002c0001t0003a0002c0001t0036others(1): Show | a0001c0003t0011g0015 a0001c0003t0011g0016 a0002c0001t0003g0027 others(3): Show |
6 | 190 | 0.0316 | -46 | c.152 others(65): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41049426 | GCCCCGCC others(39): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG03139.hp2 HG03516.hp1 |
a0002 | a0002c0001a0002c0005 | a0002c0001t0008a0002c0001t0040a0002c0005t0041 | a0002c0001t0008g0156 a0002c0001t0040g0145 a0002c0005t0041g0124 |
3 | 164 | 0.0183 | -46 | c.-51 others(65): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 4/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41049468 | GCAGCCCC others(39): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0063 | 1 | 190 | 0.0053 | -46 | c.-51 others(65): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 4/17 | chr4 | TogoVar | |||||||
ARFIP1_chr4_152774954_152917357 | 152866518 | CGGACGGG others(39): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 others(66): Show |
69 | 340 | 0.2029 | -46 | c.202 others(63): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152866537 | CGCGGGGG others(39): Show |
G | intron_variant | MODIFIER | NA18961.hp1 NA18991.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0040 |
3 | 340 | 0.0088 | -46 | c.202 others(63): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
ARHGAP17_chr16_24914389_25020369 | 25009953 | AGGCAGCC others(39): Show |
A | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 238 | 0.0042 | -46 | c.53+ others(61): Show |
ARHGAP17 | ENSG00000140750.17 | transcript | ENST00000289968.11 | protein_coding | 1/19 | chr16 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97218915 | GTGTGTGT others(39): Show |
G | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0242 | 1 | 234 | 0.0043 | -46 | c.*71 others(57): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 3263 | chr10 | TogoVar | |||||||
ARHGAP21_chr10_24578614_24728887 | 24656892 | GGGGGTCG others(39): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01261.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0258 others(1): Show |
4 | 350 | 0.0114 | -46 | c.268 others(65): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARHGDIG_chr16_275591_288010 | 285917 | CGCGGTTC others(39): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 1 | 440 | 0.0023 | -46 | c.*31 others(57): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2908 | chr16 | TogoVar | |||||||
ARHGEF7_chr13_111110310_111310732 | 111139549 | CGTGGAGC others(39): Show |
C | intron_variant | MODIFIER | NA18957.hp1 NA18966.hp1 NA18979.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0021a0001c0002t0031 | a0001c0002t0002g0249 a0001c0002t0021g0250 a0001c0002t0021g0251 others(1): Show |
4 | 272 | 0.0147 | -46 | c.166 others(65): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARL4C_chr2_234488041_234502081 | 234499849 | TAATTTAA others(39): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 466 | 0.0021 | -46 | c.-33 others(57): Show |
ARL4C | ENSG00000188042.8 | transcript | ENST00000339728.6 | protein_coding | 2769 | chr2 | TogoVar | |||||||
ARNT2_chr15_80399382_80602933 | 80456874 | CTGCCAGG others(39): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0102 | 1 | 266 | 0.0038 | -46 | c.147 others(63): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARNT2_chr15_80399382_80602933 | 80567283 | TCCTGGAT others(39): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG02040.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(13): Show | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0260 others(25): Show |
28 | 266 | 0.1053 | -46 | c.131 others(65): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070868 | AGAGAGAG others(39): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(9): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0003t0001others(1): Show | a0002c0002t0001g0160 a0002c0002t0002g0161 a0002c0003t0001g0017 others(9): Show |
12 | 273 | 0.0440 | -46 | c.270 others(65): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95515231 | TTTTCTTT others(39): Show |
T | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0028 | 1 | 323 | 0.0031 | -46 | c.488 others(65): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219202 | TTGTATGA others(39): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0065 | 1 | 408 | 0.0025 | -46 | c.670 others(63): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219533 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 367 | 0.0027 | -46 | c.670 others(63): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB7_chr15_100597589_100656701 | 100620534 | ATCTGTAC others(39): Show |
A | intron_variant | MODIFIER | HG03225.hp1 NA18940.hp1 NA18965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009 | a0001c0001t0001g0277 a0001c0001t0008g0164 a0001c0001t0009g0032 others(1): Show |
5 | 366 | 0.0137 | -46 | c.211 others(63): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29818403 | TACACACA others(39): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0071 | 1 | 22 | 0.0455 | -46 | c.542 others(63): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 82020999 | GAGTCCAG others(39): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 364 | 0.0027 | -46 | c.*36 others(57): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 3594 | chr17 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130454747 | GCCATCCA others(39): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02630.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0164 a0001c0001t0001g0342 others(9): Show |
14 | 372 | 0.0376 | -46 | c.174 others(61): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117060396 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 99 | 0.0101 | -46 | c.127 others(67): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325623 | TACATACA others(39): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG03041.hp2 HG03516.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 a0001c0003t0001g0151 a0001c0003t0001g0152 |
3 | 168 | 0.0179 | -46 | c.364 others(63): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(39): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 a0001c0001t0002g0100 |
2 | 135 | 0.0148 | -46 | c.364 others(63): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATP1B4_chrX_120357089_120388237 | 120374520 | CATATACC others(39): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 | 1 | 334 | 0.0030 | -46 | c.563 others(61): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP5F1E_chr20_59020475_59037335 | 59030162 | TAAATTAT others(39): Show |
T | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 402 | 0.0025 | -46 | c.*3+ others(58): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86145209 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp1 HG01884.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(27): Show |
31 | 358 | 0.0866 | -46 | c.639 others(63): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546473 | TGTGTATA others(39): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG01109.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0048 a0001c0001t0001g0077 others(21): Show |
29 | 408 | 0.0711 | -46 | c.-46 others(57): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3897 | chr2 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755700 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 277 | 0.0036 | -46 | c.127 others(63): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25528731 | TACATATG others(39): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp2 |
a0001 | a0001c0010 | a0001c0010t0012a0001c0010t0056 | a0001c0010t0012g0090 a0001c0010t0056g0002 |
2 | 108 | 0.0185 | -46 | c.222 others(63): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25528754 | TACATATG others(39): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0019 | a0001c0019t0007 | a0001c0019t0007g0028 | 1 | 79 | 0.0127 | -46 | c.222 others(63): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B2_chr1_154320525_154356304 | 154349880 | TGCTTCCT others(39): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0137 | 1 | 380 | 0.0026 | -46 | c.*76 others(55): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 28/28 | 763 | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357912 | CCTGGGTC others(39): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(125): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(25): Show | a0001c0001t0001g0044 a0001c0001t0001g0086 a0001c0001t0002g0079 others(125): Show |
128 | 296 | 0.4324 | -46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358500 | GTGTCCTG others(39): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01346.hp1 NA18612.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0005 | a0001c0001t0001a0001c0015t0001a0002c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show |
12 | 296 | 0.0405 | -46 | c.290 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358863 | CTGGGTCT others(39): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0033 | a0002c0033t0002 | a0002c0033t0002g0212 | 1 | 296 | 0.0034 | -46 | c.290 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79374257 | AAGGCGCT others(39): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0154 | 1 | 285 | 0.0035 | -46 | c.327 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79374357 | GAGCCCCG others(39): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(96): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(96): Show |
99 | 296 | 0.3345 | -46 | c.327 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79374403 | AAGCCCCG others(39): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(8): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0007a0002c0002t0001 | a0001c0006t0007g0287 a0001c0006t0007g0288 a0001c0006t0007g0290 others(8): Show |
11 | 129 | 0.0853 | -46 | c.327 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(39): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG02258.hp1 HG02280.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0009 a0002c0002t0001g0010 a0002c0002t0002g0001 others(1): Show |
4 | 174 | 0.0230 | -46 | c.287 others(61): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 283969 | ATTCTCCT others(39): Show |
A | downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 376 | 0.0027 | -46 | c.*41 others(57): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 3470 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 292876 | GAGGGCGC others(39): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0003a0001c0005t0004 | a0001c0002t0001g0151 a0001c0005t0003g0108 a0001c0005t0004g0112 others(4): Show |
7 | 376 | 0.0186 | -46 | c.218 others(63): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 8/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 292882 | GCAGTGAG others(39): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(11): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0003a0001c0003t0007others(5): Show | a0001c0002t0001g0126 a0001c0003t0003g0185 a0001c0003t0003g0224 others(11): Show |
14 | 370 | 0.0378 | -46 | c.218 others(63): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 8/10 | chr16 | TogoVar |