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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANGPT1_chr8_107244482_107502918 | 107361510 | CTATAGAA others(53): Show |
C | intron_variant | MODIFIER | HG00280.hp2 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0047 a0001c0001t0002g0116 |
2 | 292 | 0.0069 | -60 | c.298 others(79): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6505916 | ATGTATAT others(53): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp2 NA20300.hp2 others(1): Show |
a0001 | a0001c0012a0001c0030 | a0001c0012t0029a0001c0012t0069a0001c0030t0051 | a0001c0012t0029g0272 a0001c0012t0029g0287 a0001c0012t0069g0273 others(1): Show |
4 | 336 | 0.0119 | -60 | c.132 others(79): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
ANG_chr14_20683764_20699183 | 20698246 | ATGCTGCA others(53): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 472 | 0.0021 | -60 | c.*42 others(71): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 4064 | chr14 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4189829 | TAGGTACT others(53): Show |
T | intron_variant | MODIFIER | HG02717.hp1 NA20129.hp1 |
a0001 | a0001c0004 | a0001c0004t0029a0001c0004t0032 | a0001c0004t0029g0132 a0001c0004t0032g0213 |
2 | 300 | 0.0067 | -60 | c.137 others(77): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 10/24 | chr17 | TogoVar | |||||||
ANKHD1_chr5_140396833_140544849 | 140458945 | CATATATA others(53): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0101 | 1 | 322 | 0.0031 | -60 | c.148 others(77): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89323524 | GAGGGCAG others(53): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0008 | a0008c0021 | a0008c0021t0002 | a0008c0021t0002g0267 | 1 | 310 | 0.0032 | -60 | c.-59 others(77): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95963957 | AAATATAT others(53): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG06807.hp2 |
a0020 | a0020c0059a0020c0060 | a0020c0059t0001a0020c0060t0001 | a0020c0059t0001g0286 a0020c0060t0001g0142 |
2 | 298 | 0.0067 | -60 | c.800 others(77): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 6/87 | chr2 | TogoVar | |||||||
ANO5_chr11_22188085_22288357 | 22269471 | AAAGAAAA others(53): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02922.hp1 HG03209.hp1 others(2): Show |
a0001a0008a0013 | a0001c0010a0008c0012a0013c0021 | a0001c0010t0014a0001c0010t0022a0008c0012t0052others(1): Show | a0001c0010t0014g0294 a0001c0010t0022g0297 a0001c0010t0022g0298 others(2): Show |
5 | 364 | 0.0137 | -60 | c.189 others(77): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANTXR1_chr2_69008179_69254327 | 69096286 | AAGGGAGG others(53): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03471.hp1 HG03490.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0093 a0001c0001t0001g0196 others(5): Show |
8 | 206 | 0.0388 | -60 | c.703 others(77): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
APMAP_chr20_24957925_24997751 | 24961582 | GGGAATTA others(53): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02965.hp1 HG03098.hp1 |
a0001a0010 | a0001c0009a0010c0013 | a0001c0009t0006a0010c0013t0013 | a0001c0009t0006g0022 a0010c0013t0013g0100 |
3 | 290 | 0.0103 | -60 | c.*21 others(71): Show |
APMAP | ENSG00000101474.12 | transcript | ENST00000217456.3 | protein_coding | 1342 | chr20 | TogoVar | |||||||
APOBEC1_chr12_7644400_7670908 | 7670671 | TTGAACCT others(53): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0092 | 1 | 432 | 0.0023 | -60 | c.-48 others(71): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 4764 | chr12 | TogoVar | |||||||
APOB_chr2_20996429_21049073 | 21000846 | GTAATTAT others(53): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG03041.hp2 HG03225.hp1 others(1): Show |
a0021a0040a0078 | a0021c0021a0040c0066a0078c0045 | a0021c0021t0001a0040c0066t0001a0078c0045t0001 | a0021c0021t0001g0100 a0021c0021t0001g0101 a0040c0066t0001g0124 others(1): Show |
4 | 350 | 0.0114 | -60 | c.*82 others(69): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 582 | chr2 | TogoVar | |||||||
APOB_chr2_20996429_21049073 | 21000951 | GTAATTAT others(53): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01123.hp2 others(5): Show |
a0002a0007a0042others(2): Show | a0002c0007a0007c0034a0042c0074others(2): Show | a0002c0007t0001a0002c0007t0006a0007c0034t0001others(3): Show | a0002c0007t0001g0048 a0002c0007t0001g0109 a0002c0007t0006g0110 others(4): Show |
8 | 350 | 0.0229 | -60 | c.*71 others(69): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 477 | chr2 | TogoVar | |||||||
APOB_chr2_20996429_21049073 | 21001084 | TTTTAATT others(53): Show |
T | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0023 | a0023c0035 | a0023c0035t0001 | a0023c0035t0001g0038 | 1 | 350 | 0.0029 | -60 | c.*58 others(69): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 344 | chr2 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25216136 | CTTTTCTT others(53): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02647.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0067 a0001c0001t0001g0197 a0001c0001t0003g0209 others(2): Show |
6 | 420 | 0.0143 | -60 | c.-90 others(69): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 810 | chr16 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25216155 | CTTTCTTT others(53): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 420 | 0.0024 | -60 | c.-89 others(69): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 791 | chr16 | TogoVar | |||||||
ARFGEF3_chr6_138156939_138349663 | 138303676 | GCTGTAGT others(53): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0007 | a0002c0007t0040 | a0002c0007t0040g0073 | 1 | 190 | 0.0053 | -60 | c.382 others(79): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARHGAP10_chr4_147727088_148077776 | 147783753 | AACACATT others(53): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0002t0001g0005 others(1): Show |
4 | 106 | 0.0377 | -60 | c.155 others(79): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143169703 | TGTGGGCC others(53): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01081.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 others(22): Show |
25 | 162 | 0.1543 | -60 | c.165 others(79): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP20_chr11_110572043_110717437 | 110648194 | TATATATA others(53): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00621.hp1 others(68): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0025 others(67): Show |
71 | 226 | 0.3142 | -60 | c.189 others(79): Show |
ARHGAP20 | ENSG00000137727.13 | transcript | ENST00000683387.1 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1888129 | GTTTGCGA others(53): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02109.hp1 others(21): Show |
a0001a0003a0004others(3): Show | a0001c0002a0001c0003a0001c0005others(16): Show | a0001c0002t0001a0001c0003t0003a0001c0003t0035others(19): Show | a0001c0002t0001g0327 a0001c0003t0003g0362 a0001c0003t0035g0180 others(21): Show |
24 | 363 | 0.0661 | -60 | c.118 others(79): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1890067 | CACCGAGT others(53): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 |
a0010 | a0010c0097a0010c0098 | a0010c0097t0014a0010c0098t0003 | a0010c0097t0014g0205 a0010c0098t0003g0203 |
2 | 363 | 0.0055 | -60 | c.118 others(79): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3475052 | AGCGCTGA others(53): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01261.hp1 others(19): Show |
a0002a0012a0013 | a0002c0003a0002c0022a0012c0031others(1): Show | a0002c0003t0002a0002c0022t0002a0012c0031t0002others(1): Show | a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0005 others(10): Show |
22 | 334 | 0.0659 | -60 | c.138 others(77): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3475352 | GGCGCTGA others(53): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01515.hp1 HG02004.hp2 others(4): Show |
a0003a0004 | a0003c0004a0003c0015a0004c0010 | a0003c0004t0002a0003c0015t0002a0004c0010t0002 | a0003c0004t0002g0072 a0003c0004t0002g0080 a0003c0015t0002g0069 others(4): Show |
7 | 334 | 0.0210 | -60 | c.138 others(77): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3475702 | GGCCTTTC others(53): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02486.hp2 others(9): Show |
a0001a0011 | a0001c0001a0011c0027 | a0001c0001t0001a0001c0001t0004a0011c0027t0001 | a0001c0001t0001g0003 a0001c0001t0001g0086 a0001c0001t0001g0109 others(7): Show |
12 | 334 | 0.0359 | -60 | c.138 others(77): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7362011 | AAGAAGGA others(53): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG03491.hp1 NA19057.hp1 |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0002a0001c0001t0031a0010c0017t0001 | a0001c0001t0002g0032 a0001c0001t0031g0089 a0010c0017t0001g0147 |
3 | 298 | 0.0101 | -60 | c.-11 others(77): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7362113 | GAGAAGGA others(53): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01928.hp1 HG01952.hp2 others(7): Show |
a0001a0004a0018others(1): Show | a0001c0001a0001c0002a0004c0011others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0003others(3): Show | a0001c0001t0002g0043 a0001c0001t0002g0125 a0001c0001t0002g0144 others(7): Show |
10 | 298 | 0.0336 | -60 | c.-11 others(77): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73741367 | GTGTGTGT others(53): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0040 | 1 | 188 | 0.0053 | -60 | c.34- others(75): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73806535 | CTATATAT others(53): Show |
C | intron_variant | MODIFIER | NA18949.hp1 | a0022 | a0022c0044 | a0022c0044t0001 | a0022c0044t0001g0123 | 1 | 188 | 0.0053 | -60 | c.102 others(81): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 9/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF38_chr4_105547620_105685914 | 105561400 | TAATAGAA others(53): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0025 | 1 | 186 | 0.0054 | -60 | c.196 others(77): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARMC3_chr10_22923053_23043523 | 23010431 | CTTCCCTC others(53): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0164 | 1 | 302 | 0.0033 | -60 | c.204 others(79): Show |
ARMC3 | ENSG00000165309.14 | transcript | ENST00000298032.10 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406083 | GTGTTTGT others(53): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 HG03453.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0097 a0002c0001t0001g0042 |
2 | 210 | 0.0095 | -60 | c.*27 others(71): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 406 | chr2 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33269672 | TTCCCTCC others(53): Show |
T | intron_variant | MODIFIER | NA19000.hp1 NA19057.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0002a0002c0003t0001 | a0001c0004t0002g0163 a0002c0003t0001g0195 |
2 | 240 | 0.0083 | -60 | c.708 others(79): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308199 | CATATATA others(53): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 HG02523.hp2 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0013 a0004c0006t0013g0331 a0004c0006t0013g0332 others(1): Show |
5 | 356 | 0.0140 | -60 | c.430 others(79): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758053 | CCTAACTC others(53): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0250 | 1 | 300 | 0.0033 | -60 | c.655 others(79): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758081 | CCTAACTC others(53): Show |
C | intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 300 | 0.0033 | -60 | c.655 others(79): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758109 | CCTAACTC others(53): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0113 | 1 | 300 | 0.0033 | -60 | c.655 others(79): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758333 | CCTAACTC others(53): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0250 | 1 | 300 | 0.0033 | -60 | c.655 others(79): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758417 | CCTAACTC others(53): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0113 | 1 | 300 | 0.0033 | -60 | c.655 others(79): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804020 | GCCATCCC others(53): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03516.hp1 NA18995.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0010a0001c0009t0004a0001c0009t0049 | a0001c0001t0010g0004 a0001c0009t0004g0140 a0001c0009t0049g0141 |
3 | 254 | 0.0118 | -60 | c.163 others(75): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804269 | CCCCCCAT others(53): Show |
C | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0176 | 1 | 254 | 0.0039 | -60 | c.163 others(75): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804305 | TCCTCCTT others(53): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0066 | 1 | 254 | 0.0039 | -60 | c.163 others(75): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546459 | TATATATA others(53): Show |
T | upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 410 | 0.0024 | -60 | c.-46 others(71): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3883 | chr2 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79341595 | GACACACC others(53): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02897.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 others(1): Show |
4 | 298 | 0.0134 | -60 | c.228 others(77): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79380976 | TGCAGATG others(53): Show |
T | downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0055 | 1 | 298 | 0.0034 | -60 | c.*35 others(71): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 2694 | chr18 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(53): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01106.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0242 a0001c0004t0001g0197 a0002c0002t0001g0307 others(5): Show |
9 | 446 | 0.0202 | -60 | c.287 others(75): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82976382 | TATGGAGA others(53): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0002a0001c0001t0032a0001c0002t0002others(5): Show | a0001c0001t0002g0058 a0001c0001t0032g0162 a0001c0002t0002g0086 others(7): Show |
10 | 266 | 0.0376 | -60 | c.460 others(79): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81119647 | AGTCACGG others(53): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(67): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0018 others(67): Show |
70 | 376 | 0.1862 | -60 | c.*38 others(71): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2214 | chr17 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159325057 | ATATTATA others(53): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0068 a0001c0001t0001g0107 others(2): Show |
5 | 216 | 0.0232 | -60 | c.621 others(77): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467768 | GTGGAGAT others(53): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01975.hp1 NA18957.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0163 a0001c0001t0006g0246 a0001c0001t0008g0134 others(2): Show |
5 | 262 | 0.0191 | -60 | c.487 others(75): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar |