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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGR2_chr7_16786811_16809999 | 16789677 | GGGGGCTG others(40): Show |
G | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 458 | 0.0022 | -47 | c.*31 others(58): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 2133 | chr7 | TogoVar | |||||||
AGR2_chr7_16786811_16809999 | 16789685 | AGCCCCCC others(40): Show |
A | downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 458 | 0.0022 | -47 | c.*31 others(58): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 2125 | chr7 | TogoVar | |||||||
AGR2_chr7_16786811_16809999 | 16789686 | GCCCCCCA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00733.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0042 others(22): Show |
35 | 458 | 0.0764 | -47 | c.*31 others(58): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 2124 | chr7 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1041776 | CCGGCCAG others(40): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(152): Show |
a0001a0002a0006others(19): Show | a0001c0001a0001c0004a0001c0006others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(42): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(144): Show |
155 | 208 | 0.7452 | -47 | c.117 others(63): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 6/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44293804 | GCGCGTTG others(40): Show |
G | frameshift_variant | HIGH | HG01256.hp1 | a0005 | a0005c0040 | a0005c0040t0001 | a0005c0040t0001g0157 | 1 | 424 | 0.0024 | -47 | c.129 others(56): Show |
p.Arg others(5): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 11/14 | 1427/2690 | 1296/1638 | 432/545 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
AKAP10_chr17_19899302_19982828 | 19951143 | GCAGCCCC others(40): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0056 a0001c0001t0010g0057 |
2 | 266 | 0.0075 | -47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19951169 | ATCTGGGA others(40): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0006 | a0001c0006t0022 | a0001c0006t0022g0055 | 1 | 165 | 0.0061 | -47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19951172 | TGGGAGGG others(40): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01070.hp1 others(40): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0051 a0001c0001t0002g0006 a0001c0001t0002g0009 others(40): Show |
43 | 263 | 0.1635 | -47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1596431 | CTCCTCCT others(40): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(50): Show |
69 | 141 | 0.4894 | -47 | c.911 others(62): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38330369 | GCCCCCCA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG03927.hp2 NA18976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 446 | 0.0045 | -47 | c.*91 others(58): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 649 | chr12 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8044762 | GTGTCCCC others(40): Show |
G | splice_acceptor_variant others(2): Show |
HIGH | HG02738.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0195 |
2 | 468 | 0.0043 | -47 | c.677 others(59): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107918 | AAAGAAAG others(40): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0030 a0001c0002t0003g0349 |
2 | 420 | 0.0048 | -47 | c.168 others(64): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38610335 | AAAGAAAA others(40): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0004 | a0001c0001t0003g0158 a0001c0005t0004g0162 |
2 | 230 | 0.0087 | -47 | c.69+ others(64): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111858482 | CGGGCGCG others(40): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0255 | 1 | 336 | 0.0030 | -47 | c.126 others(63): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 10/47 | chr2 | TogoVar | |||||||
ANKRA2_chr5_73547190_73570639 | 73561588 | AAACCCCA others(40): Show |
A | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 390 | 0.0026 | -47 | c.290 others(62): Show |
ANKRA2 | ENSG00000164331.10 | transcript | ENST00000296785.8 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89389703 | AGGGAGCA others(40): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 308 | 0.0032 | -47 | c.-60 others(66): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANKRD24_chr19_4177689_4229814 | 4213244 | TCCTTCCT others(40): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 354 | 0.0028 | -47 | c.119 others(64): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANKRD31_chr5_75063297_75241878 | 75206227 | AAAAAAAA others(40): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 331 | 0.0030 | -47 | c.403 others(62): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75206231 | AAAAAAAA others(40): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
a0001a0004a0005 | a0001c0002a0001c0018a0001c0022others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0018t0001others(3): Show | a0001c0002t0001g0005 a0001c0002t0001g0072 a0001c0002t0001g0073 others(17): Show |
21 | 274 | 0.0766 | -47 | c.403 others(62): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75206233 | AAAAAAAA others(40): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01071.hp2 others(16): Show |
a0001a0005 | a0001c0002a0001c0011a0005c0008 | a0001c0002t0001a0001c0002t0008a0001c0011t0001others(1): Show | a0001c0002t0001g0029 a0001c0002t0001g0038 a0001c0002t0001g0040 others(16): Show |
19 | 322 | 0.0590 | -47 | c.403 others(62): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75206235 | AAAAAAAA others(40): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG02486.hp1 others(2): Show |
a0001a0011 | a0001c0002a0001c0020a0011c0023 | a0001c0002t0001a0001c0020t0001a0011c0023t0009 | a0001c0002t0001g0003 a0001c0002t0001g0041 a0001c0002t0001g0075 others(2): Show |
5 | 315 | 0.0159 | -47 | c.403 others(62): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANKRD45_chr1_173603336_173674851 | 173613580 | CGCCCCGT others(40): Show |
C | intron_variant | MODIFIER | HG03669.hp2 NA18939.hp1 NA18943.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0157 a0001c0001t0005g0001 a0001c0001t0005g0142 others(1): Show |
7 | 340 | 0.0206 | -47 | c.731 others(64): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 5/5 | chr1 | TogoVar | |||||||
ANXA10_chr4_168087537_168192736 | 168155863 | ATATATCA others(40): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 282 | 0.0035 | -47 | c.196 others(64): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA3_chr4_78546770_78615447 | 78548182 | GCAGCCAC others(40): Show |
G | upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 328 | 0.0030 | -47 | c.-37 others(58): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 3587 | chr4 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89856762 | ACTCAGGA others(40): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 310 | 0.0032 | -47 | c.345 others(66): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40982194 | GGAAAGAA others(40): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02258.hp1 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001a0002c0001t0025 | a0001c0003t0001g0185 a0002c0001t0001g0078 a0002c0001t0001g0125 others(1): Show |
4 | 128 | 0.0313 | -47 | c.835 others(66): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
ARFGEF3_chr6_138156939_138349663 | 138345433 | AAAAAAAA others(40): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0046 | 1 | 188 | 0.0053 | -47 | c.*89 others(58): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 771 | chr6 | TogoVar | |||||||
ARFGEF3_chr6_138156939_138349663 | 138345435 | AAAAAAAA others(40): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 NA18957.hp1 NA18968.hp2 others(4): Show |
a0002 | a0002c0003a0002c0041 | a0002c0003t0002a0002c0003t0052a0002c0041t0002 | a0002c0003t0002g0040 a0002c0003t0002g0047 a0002c0003t0002g0056 others(4): Show |
7 | 188 | 0.0372 | -47 | c.*89 others(58): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 773 | chr6 | TogoVar | |||||||
ARFGEF3_chr6_138156939_138349663 | 138345437 | AAAAAAAA others(40): Show |
A | downstream_gene_variant | MODIFIER | HG02027.hp1 HG02257.hp1 HG02976.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0003a0003c0018others(1): Show | a0001c0005t0002a0001c0005t0007a0002c0003t0002others(3): Show | a0001c0005t0002g0117 a0001c0005t0007g0092 a0002c0003t0002g0030 others(7): Show |
10 | 187 | 0.0535 | -47 | c.*89 others(58): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 775 | chr6 | TogoVar | |||||||
ARHGEF28_chr5_73621196_73946990 | 73671710 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG00735.hp1 NA20300.hp1 |
a0006a0040 | a0006c0030a0040c0052 | a0006c0030t0001a0040c0052t0001 | a0006c0030t0001g0027 a0040c0052t0001g0026 |
2 | 157 | 0.0127 | -47 | c.-11 others(66): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF4_chr2_130831914_131052253 | 130833375 | GAAGGAAA others(40): Show |
G | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02818.hp1 |
a0001a0006 | a0001c0012a0006c0005 | a0001c0012t0001a0006c0005t0005 | a0001c0012t0001g0120 a0006c0005t0005g0119 |
2 | 137 | 0.0146 | -47 | c.-35 others(58): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 3538 | chr2 | TogoVar | |||||||
ARHGEF7_chr13_111110310_111310732 | 111169988 | CAGGCCCC others(40): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0138 a0001c0001t0002g0061 a0001c0001t0008g0067 others(1): Show |
4 | 272 | 0.0147 | -47 | c.252 others(66): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113947574 | AGAAGGGA others(40): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 a0001c0001t0002g0132 |
2 | 131 | 0.0153 | -47 | c.398 others(66): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130056450 | TAGTGGCA others(40): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 306 | 0.0033 | -47 | c.331 others(66): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 29/29 | chr8 | TogoVar | |||||||
ASB16_chr17_44165704_44184084 | 44181152 | GGGGGGTC others(40): Show |
G | downstream_gene_variant | MODIFIER | HG03098.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0099 a0002c0002t0005g0100 |
2 | 359 | 0.0056 | -47 | c.*27 others(58): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 2069 | chr17 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1424981 | TCCATCTA others(40): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0012others(22): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(121): Show |
126 | 183 | 0.6885 | -47 | c.106 others(64): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175108448 | GTCCGGGA others(40): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG03041.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 others(3): Show |
6 | 221 | 0.0271 | -47 | c.828 others(64): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 10/13 | chr2 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25804425 | GTGTATGT others(40): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG01891.hp1 others(20): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0014a0002c0002others(17): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(17): Show | a0001c0001t0001g0039 a0001c0001t0001g0192 a0001c0014t0001g0069 others(20): Show |
23 | 298 | 0.0772 | -47 | c.450 others(66): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112787074 | CGTAGACC others(40): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03516.hp1 |
a0001 | a0001c0009 | a0001c0009t0004a0001c0009t0051 | a0001c0009t0004g0140 a0001c0009t0051g0141 |
2 | 250 | 0.0080 | -47 | c.162 others(64): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112787357 | GATGCGTA others(40): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0240 | 1 | 252 | 0.0040 | -47 | c.162 others(64): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112789356 | GTGTAGAC others(40): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 232 | 0.0043 | -47 | c.162 others(64): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP5F1C_chr10_7783177_7812801 | 7812105 | ATCCCAGC others(40): Show |
A | downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 418 | 0.0024 | -47 | c.*44 others(58): Show |
ATP5F1C | ENSG00000165629.20 | transcript | ENST00000356708.12 | protein_coding | 4305 | chr10 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42640334 | GACCCTGC others(40): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0000 | 1 | 372 | 0.0027 | -47 | c.-10 others(55): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 61 | chr22 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86098211 | TATCATTA others(40): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 358 | 0.0028 | -47 | c.-76 others(56): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 698 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755710 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 250 | 0.0040 | -47 | c.127 others(64): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25531280 | GTTATATA others(40): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(11): Show |
a0001 | a0001c0004a0001c0006a0001c0010others(1): Show | a0001c0004t0002a0001c0004t0003a0001c0004t0004others(10): Show | a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 others(11): Show |
14 | 106 | 0.1321 | -47 | c.420 others(62): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | chr13 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79246221 | AGGAGGGC others(40): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
a0001 | a0001c0001a0001c0037 | a0001c0001t0001a0001c0037t0003 | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0059 others(6): Show |
9 | 250 | 0.0360 | -47 | c.110 others(66): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678953 | GTGTGTGT others(40): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 426 | 0.0023 | -47 | c.287 others(62): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83022848 | GCCCACCT others(40): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0017g0176 |
3 | 265 | 0.0113 | -47 | c.298 others(64): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28315072 | GAGGGAAG others(40): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001 a0001c0001t0003g0148 |
2 | 156 | 0.0128 | -47 | c.108 others(68): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |