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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP39_chr8_144524179_144690846 | 144592455 | GGGAAACC others(41): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0069a0001c0004t0006g0070a0001c0004t0006g0073others(2): Show | 5 | 246 | 0.0203 | -48 | c.81- others(65): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144635805 | TCTGAGGC others(41): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02004.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0030others(38): Show | 41 | 246 | 0.1667 | -48 | c.-81 others(67): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1839327 | ACTGTCTG others(41): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02647.hp2 HG02723.hp2 |
a0001a0010 | a0001c0020a0010c0097a0010c0098 | a0001c0020t0015a0010c0097t0014a0010c0098t0003 | a0001c0020t0015g0204a0010c0097t0014g0205a0010c0098t0003g0203 | 3 | 363 | 0.0083 | -48 | c.-47 others(65): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3476386 | CCTGTCAG others(41): Show |
C | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 334 | 0.0030 | -48 | c.147 others(65): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | chr1 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7362011 | AAGAAGGA others(41): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02258.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0008a0003c0003t0027 | a0001c0001t0002g0138a0001c0001t0008g0137a0003c0003t0027g0103 | 3 | 298 | 0.0101 | -48 | c.-11 others(65): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF18_chr19_7343937_7477478 | 7362125 | GAGAAGGA others(41): Show |
G | intron_variant | MODIFIER | HG02602.hp1 HG04115.hp2 HG04204.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0040 | a0001c0001t0001a0001c0002t0003a0004c0040t0002 | a0001c0001t0001g0056a0001c0002t0003g0039a0001c0002t0003g0119others(4): Show | 7 | 298 | 0.0235 | -48 | c.-11 others(65): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF38_chr4_105547620_105685914 | 105561401 | AATAGAAT others(41): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02451.hp2 NA19011.hp2 |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0005 | a0001c0002t0001a0002c0001t0016a0003c0005t0012 | a0001c0002t0001g0166a0002c0001t0016g0165a0003c0005t0012g0124 | 3 | 186 | 0.0161 | -48 | c.196 others(65): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 945397 | ACCCAGCC others(41): Show |
A | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0052 | a0001c0052t0192 | a0001c0052t0192g0251 | 1 | 364 | 0.0028 | -48 | c.693 others(67): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARL16_chr17_81676187_81688797 | 81679361 | ATGGGGAT others(41): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | -48 | c.*22 others(59): Show |
ARL16 | ENSG00000214087.9 | transcript | ENST00000622299.5 | protein_coding | 1825 | chr17 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110432116 | TATAGATC others(41): Show |
T | downstream_gene_variant | MODIFIER | HG02135.hp2 NA18999.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0142a0001c0001t0001g0156 | 3 | 334 | 0.0090 | -48 | c.*29 others(59): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 2706 | chr12 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3037112 | TATATATA others(41): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(125): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(123): Show | 128 | 193 | 0.6632 | -48 | c.-45 others(59): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4358 | chrX | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68331185 | CTTTCTTT others(41): Show |
C | intron_variant | MODIFIER | HG02145.hp2 NA20129.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0258a0004c0006t0001g0289 | 2 | 304 | 0.0066 | -48 | c.219 others(67): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3037112 | TATATATA others(41): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(166): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0002a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(155): Show | 169 | 248 | 0.6815 | -48 | c.*37 others(59): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 3002 | chrX | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663066 | ATCTCATC others(41): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0004t0002others(1): Show | a0001c0001t0002g0043a0002c0002t0002g0125a0002c0004t0002g0113others(7): Show | 11 | 394 | 0.0279 | -48 | c.887 others(64): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130070868 | AGAGAGAG others(41): Show |
A | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 308 | 0.0033 | -48 | c.270 others(67): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5648012 | CAAACACC others(41): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0025a0001c0001t0001g0035a0001c0001t0001g0264others(44): Show | 47 | 446 | 0.1054 | -48 | c.517 others(63): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5648504 | GGGTAAAC others(41): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0028 | 1 | 446 | 0.0022 | -48 | c.517 others(63): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5648742 | ACGGGCAA others(41): Show |
A | intron_variant | MODIFIER | HG01123.hp1 NA18960.hp1 NA18964.hp1 others(4): Show |
a0001a0008 | a0001c0001a0008c0014 | a0001c0001t0005a0008c0014t0005 | a0001c0001t0005g0005a0001c0001t0005g0050a0001c0001t0005g0171others(3): Show | 7 | 446 | 0.0157 | -48 | c.517 others(63): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ASB16_chr17_44165704_44184084 | 44181103 | GGGGGGGT others(41): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp2 HG03225.hp1 HG06807.hp1 |
a0002a0011 | a0002c0002a0011c0016 | a0002c0002t0001a0002c0002t0005a0011c0016t0001 | a0002c0002t0001g0112a0002c0002t0005g0130a0011c0016t0001g0111 | 3 | 362 | 0.0083 | -48 | c.*27 others(59): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 2020 | chr17 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219371 | TTGTATGA others(41): Show |
T | intron_variant | MODIFIER | HG02723.hp1 NA19030.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0040a0001c0002t0007g0035a0001c0002t0007g0065 | 3 | 410 | 0.0073 | -48 | c.670 others(65): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117160404 | AATCTCCC others(41): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01081.hp1 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0028a0001c0001t0001g0034a0001c0001t0001g0037others(44): Show | 47 | 102 | 0.4608 | -48 | c.101 others(69): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3908604 | TCCTTCCC others(41): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0362 | 1 | 384 | 0.0026 | -48 | c.647 others(63): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38325613 | CACACACC others(41): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0099 | 1 | 236 | 0.0042 | -48 | c.364 others(65): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(41): Show |
T | intron_variant | MODIFIER | HG01993.hp2 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0062a0001c0001t0011g0071 | 2 | 236 | 0.0085 | -48 | c.364 others(65): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATOSB_chr9_35099117_35120862 | 35112497 | AGACCCAG others(41): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0149 | 1 | 432 | 0.0023 | -48 | c.-22 others(67): Show |
ATOSB | ENSG00000005238.20 | transcript | ENST00000322813.10 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112743380 | CGGCATAG others(41): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02809.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0021a0001c0004t0003others(4): Show | a0001c0001t0002g0050a0001c0001t0021g0240a0001c0004t0003g0034others(9): Show | 12 | 254 | 0.0472 | -48 | c.40- others(65): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112786880 | TGTGTAGA others(41): Show |
T | intron_variant | MODIFIER | NA19085.hp2 | a0013 | a0013c0036 | a0013c0036t0062 | a0013c0036t0062g0204 | 1 | 254 | 0.0039 | -48 | c.162 others(65): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112789019 | ATGTAGAC others(41): Show |
A | intron_variant | MODIFIER | NA18950.hp2 NA19091.hp1 |
a0001 | a0001c0006 | a0001c0006t0056a0001c0006t0077 | a0001c0006t0056g0162a0001c0006t0077g0159 | 2 | 254 | 0.0079 | -48 | c.162 others(65): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112789234 | ACTTAATC others(41): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp1 HG03225.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0013a0001c0014t0003a0001c0014t0043 | a0001c0002t0013g0211a0001c0014t0003g0178a0001c0014t0043g0056 | 3 | 254 | 0.0118 | -48 | c.162 others(65): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112803919 | CCCATCCC others(41): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0031 | 1 | 254 | 0.0039 | -48 | c.163 others(64): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112803933 | GCCCTCCT others(41): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02970.hp2 |
a0001 | a0001c0002a0001c0045 | a0001c0002t0013a0001c0045t0014 | a0001c0002t0013g0117a0001c0045t0014g0254 | 2 | 254 | 0.0079 | -48 | c.163 others(64): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A4_chr3_193393967_193559895 | 193485271 | AAGCAGCA others(41): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 302 | 0.0033 | -48 | c.739 others(65): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
ATP5F1D_chr19_1236751_1249825 | 1246537 | ACACACGA others(41): Show |
A | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | -48 | c.*21 others(59): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 1713 | chr19 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546471 | TATGTGTA others(41): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(46): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0021a0001c0001t0001g0088a0001c0001t0001g0089others(37): Show | 49 | 410 | 0.1195 | -48 | c.-46 others(59): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3895 | chr2 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53819609 | TGTATATA others(41): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(113): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0130others(113): Show | 116 | 286 | 0.4056 | -48 | c.307 others(65): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79145317 | TGCTGGCG others(41): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 298 | 0.0034 | -48 | c.726 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79145570 | GAGAGTGA others(41): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG01243.hp1 others(30): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0003others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0089a0001c0001t0001g0090others(30): Show | 33 | 298 | 0.1107 | -48 | c.726 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79145706 | GCGGTGTG others(41): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01106.hp1 others(47): Show |
a0001a0012a0015others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(13): Show | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0140others(47): Show | 50 | 298 | 0.1678 | -48 | c.726 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79146020 | AAGCTGCA others(41): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01106.hp1 others(30): Show |
a0001a0015a0016 | a0001c0003a0001c0004a0001c0015others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(6): Show | a0001c0003t0001g0136a0001c0003t0001g0137a0001c0003t0002g0135others(30): Show | 33 | 298 | 0.1107 | -48 | c.726 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | chr18 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579533 | ATATTATA others(41): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0023a0003c0005t0062a0003c0005t0065others(1): Show | a0003c0005t0023g0143a0003c0005t0023g0321a0003c0005t0062g0322others(2): Show | 5 | 330 | 0.0152 | -48 | c.168 others(65): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(41): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01516.hp2 HG01928.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0257a0001c0001t0002g0057a0001c0001t0002g0060others(5): Show | 9 | 446 | 0.0202 | -48 | c.287 others(63): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82970514 | TCCTCCCC others(41): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0260 | 1 | 266 | 0.0038 | -48 | c.460 others(65): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82970600 | CGTGGCCG others(41): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0013 | a0001c0013t0012 | a0001c0013t0012g0001 | 2 | 266 | 0.0075 | -48 | c.460 others(65): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82982093 | ATGGTGAT others(41): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0027 | 1 | 266 | 0.0038 | -48 | c.460 others(67): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82982106 | AAGCGGGT others(41): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(210): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(76): Show | a0001c0001t0001g0051a0001c0001t0001g0061a0001c0001t0001g0179others(205): Show | 213 | 266 | 0.8008 | -48 | c.460 others(67): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49150247 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0307 | 1 | 380 | 0.0026 | -48 | c.354 others(65): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BACH2_chr6_89921528_90301843 | 90222819 | TCTGTCCT others(41): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0005 | a0001c0005t0107 | a0001c0005t0107g0099 | 1 | 194 | 0.0052 | -48 | c.-27 others(69): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81425182 | GGTGGGTG others(41): Show |
G | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0026 | a0001c0026t0003 | a0001c0026t0003g0246 | 1 | 332 | 0.0030 | -48 | c.179 others(65): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | chr17 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98405332 | GCTTGCTT others(41): Show |
G | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0085 | 1 | 298 | 0.0034 | -48 | c.-45 others(59): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4243 | chr7 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81053746 | GGAACTGC others(41): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 376 | 0.0027 | -48 | c.130 others(62): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |