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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AFF3_chr2_99540419_100147590 | 99626308 | GCCTCCCT others(40): Show |
G | intron_variant | MODIFIER | HG02055.hp1 NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0015 | a0001c0001t0005g0075a0001c0001t0010g0057a0001c0001t0015g0002 | 3 | 100 | 0.0300 | -47 | c.118 others(68): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235573007 | TTCTTCTT others(40): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0012a0001c0019t0007 | a0001c0001t0012g0071a0001c0019t0007g0056 | 2 | 98 | 0.0204 | -47 | c.163 others(66): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86633833 | GTATATAT others(40): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00735.hp2 others(33): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(31): Show | a0001c0001t0003g0097a0001c0001t0003g0113a0001c0001t0005g0106others(33): Show | 36 | 132 | 0.2727 | -47 | c.299 others(68): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGGF1_chr5_77025404_77070234 | 77042767 | CCCCCCCA others(40): Show |
C | intron_variant | MODIFIER | NA18992.hp2 NA19065.hp2 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0016 | a0002c0003t0002g0043a0002c0003t0016g0086 | 2 | 438 | 0.0046 | -47 | c.870 others(64): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AGR2_chr7_16786811_16809999 | 16789677 | GGGGGCTG others(40): Show |
G | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 460 | 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 | a0001c0002t0001g0006 | 1 | 460 | 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 | a0001c0001t0003g0024a0001c0001t0003g0030a0001c0001t0003g0053others(25): Show | 35 | 460 | 0.0761 | -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(153): Show |
a0001a0002a0006others(19): Show | a0001c0001a0001c0004a0001c0006others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(148): Show | 156 | 210 | 0.7429 | -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 | a0008 | a0008c0040 | a0008c0040t0001 | a0008c0040t0001g0160 | 1 | 426 | 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 | a0001c0001t0009 | a0001c0001t0009g0057a0001c0001t0009g0058 | 2 | 278 | 0.0072 | -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 | a0001c0006t0028 | a0001c0006t0028g0056 | 1 | 278 | 0.0036 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0052a0001c0001t0002g0010a0001c0001t0002g0011others(40): Show | 43 | 278 | 0.1547 | -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(5): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(58): Show | 69 | 151 | 0.4570 | -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 | 452 | 0.0044 | -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 | a0001c0001t0001g0133a0001c0001t0001g0229 | 2 | 470 | 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 | a0001c0002t0002g0009a0001c0002t0003g0366 | 2 | 422 | 0.0047 | -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 | a0001c0001t0003g0158a0001c0005t0004g0162 | 2 | 288 | 0.0069 | -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 | 370 | 0.0027 | -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 | a0001c0001t0003g0040 | 1 | 392 | 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 | 310 | 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 | a0001c0002t0001g0199 | 1 | 356 | 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 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 334 | 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 |
a0002a0007a0008others(1): Show | a0002c0002a0002c0022a0007c0007others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0022t0001others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0070a0002c0002t0001g0074others(17): Show | 21 | 334 | 0.0629 | -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 |
a0002a0008a0011 | a0002c0002a0008c0008a0011c0011 | a0002c0002t0001a0002c0002t0008a0008c0008t0001others(1): Show | a0002c0002t0001g0042a0002c0002t0001g0043a0002c0002t0001g0044others(16): Show | 19 | 334 | 0.0569 | -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 |
a0002a0019a0028 | a0002c0002a0019c0023a0028c0020 | a0002c0002t0001a0019c0023t0009a0028c0020t0001 | a0002c0002t0001g0045a0002c0002t0001g0046a0002c0002t0001g0080others(2): Show | 5 | 334 | 0.0150 | -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 | a0001c0001t0001g0158a0001c0001t0005g0001a0001c0001t0005g0141others(1): Show | 7 | 342 | 0.0205 | -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 | a0001c0001t0001g0278 | 1 | 284 | 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 | a0001c0001t0001g0155 | 1 | 330 | 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 | a0001c0001t0003g0138 | 1 | 312 | 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 | a0001c0003t0001g0185a0002c0001t0001g0078a0002c0001t0001g0125others(1): Show | 4 | 192 | 0.0208 | -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 | a0002c0003t0002g0045 | 1 | 190 | 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 | a0002c0003t0002a0002c0003t0053a0002c0041t0002 | a0002c0003t0002g0042a0002c0003t0002g0046a0002c0003t0002g0052others(4): Show | 7 | 190 | 0.0368 | -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 | a0001c0005t0002g0117a0001c0005t0007g0092a0002c0003t0002g0030others(7): Show | 10 | 190 | 0.0526 | -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 |
a0006a0037 | a0006c0030a0037c0052 | a0006c0030t0001a0037c0052t0001 | a0006c0030t0001g0024a0037c0052t0001g0025 | 2 | 188 | 0.0106 | -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 | a0001c0014a0006c0005 | a0001c0014t0001a0006c0005t0005 | a0001c0014t0001g0120a0006c0005t0005g0119 | 2 | 144 | 0.0139 | -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 | a0001c0001t0001g0144a0001c0001t0002g0011a0001c0001t0008g0017others(1): Show | 4 | 274 | 0.0146 | -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 | a0001c0001t0002g0129a0001c0001t0002g0132 | 2 | 350 | 0.0057 | -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 | 308 | 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 | a0002c0002t0005g0105a0002c0002t0005g0106 | 2 | 362 | 0.0055 | -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(124): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0013others(25): Show | a0001c0001t0001a0001c0008t0001a0001c0013t0001others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0022others(123): Show | 127 | 185 | 0.6865 | -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 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0011others(3): Show | 6 | 224 | 0.0268 | -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 | a0001c0001t0001g0039a0001c0001t0001g0192a0001c0014t0001g0069others(20): Show | 23 | 300 | 0.0767 | -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 | a0001c0009t0004a0001c0009t0049 | a0001c0009t0004g0140a0001c0009t0049g0141 | 2 | 254 | 0.0079 | -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 | 254 | 0.0039 | -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 | 254 | 0.0039 | -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 | a0001c0001t0001g0005 | 1 | 420 | 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 | a0001c0001t0019 | a0001c0001t0019g0000 | 1 | 374 | 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 | a0001c0001t0004g0113 | 1 | 360 | 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 | a0001c0001t0002g0263 | 1 | 286 | 0.0035 | -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 | a0001c0004t0002g0049a0001c0004t0002g0080a0001c0004t0003g0007others(11): Show | 14 | 122 | 0.1148 | -47 | c.420 others(62): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | chr13 | TogoVar |