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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABR_chr17_998519_1184981 | 1048795 | G | GGTCAAGA others(42): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0085 | a0001c0002t0001g0110 a0001c0002t0085g0328 |
2 | 337 | 0.0059 | 49 | c.179 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1054495 | A | AGGGGATG others(42): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0085 | a0001c0002t0001g0110 a0001c0002t0085g0328 |
2 | 337 | 0.0059 | 49 | c.156 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 14/22 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390304 | T | TTTTATAT others(42): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0147 | 1 | 299 | 0.0033 | 49 | c.38+ others(66): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44074753 | T | TTTCTTTC others(42): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0112 | 1 | 438 | 0.0023 | 49 | c.489 others(62): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44074773 | T | TTTCTTTC others(42): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0126 | 1 | 438 | 0.0023 | 49 | c.489 others(62): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44074775 | T | TCTTTCTT others(42): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0214 | 1 | 438 | 0.0023 | 49 | c.489 others(62): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | chr11 | TogoVar | |||||||
ACHE_chr7_100884994_100900888 | 100893725 | C | CCAAGAAG others(42): Show |
frameshift_variant | HIGH | HG02738.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0062 | 1 | 414 | 0.0024 | 49 | c.459 others(56): Show |
p.Val others(5): Show |
ACHE | ENSG00000087085.16 | transcript | ENST00000241069.11 | protein_coding | 2/5 | 614/2172 | 507/1845 | 169/614 | chr7 | TogoVar | |||
ACMSD_chr2_134833616_134907034 | 134885309 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 |
3 | 382 | 0.0079 | 49 | c.849 others(68): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561917 | C | CCCCCCCC others(42): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02145.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0023a0002c0002others(3): Show | a0001c0001t0002a0001c0023t0006a0002c0002t0003others(5): Show | a0001c0001t0002g0386 a0001c0023t0006g0081 a0002c0002t0003g0162 others(13): Show |
16 | 388 | 0.0412 | 49 | c.33+ others(66): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112381918 | T | TTAAAAAA others(42): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18983.hp1 NA19062.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 others(3): Show |
6 | 364 | 0.0165 | 49 | c.-30 others(66): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112423221 | A | AAATATAT others(42): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 364 | 0.0028 | 49 | c.159 others(66): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236755708 | G | GTTAGAAC others(42): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0088 a0001c0001t0018g0303 |
2 | 344 | 0.0058 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236755757 | G | GTTAGAAC others(42): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0029 | a0001c0029t0005 | a0001c0029t0005g0107 | 1 | 344 | 0.0029 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236755967 | A | AATAGAGT others(42): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0088 a0001c0001t0018g0303 |
2 | 344 | 0.0058 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756233 | T | TGCCCGCT others(42): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01496.hp2 others(24): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0016others(2): Show | a0001c0001t0003a0001c0003t0021a0001c0016t0003others(2): Show | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 others(24): Show |
27 | 344 | 0.0785 | 49 | c.215 others(68): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756335 | C | CGCTGCCA others(42): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01496.hp2 others(21): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0016others(2): Show | a0001c0001t0003a0001c0003t0021a0001c0016t0003others(2): Show | a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0026 others(21): Show |
24 | 344 | 0.0698 | 49 | c.215 others(68): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756344 | T | TGTTAGAA others(42): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0083 | 1 | 344 | 0.0029 | 49 | c.215 others(68): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756369 | A | ATACTGCA others(42): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0004 | a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0078 others(1): Show |
4 | 344 | 0.0116 | 49 | c.215 others(68): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756457 | A | AATAGAGT others(42): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(36): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0021others(3): Show | a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(36): Show |
39 | 344 | 0.1134 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756483 | G | GCTGCCAC others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0067 a0001c0001t0011g0090 |
2 | 344 | 0.0058 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756541 | G | GTTAGAAC others(42): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0170 | 1 | 344 | 0.0029 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756696 | C | CCTGGTAA others(42): Show |
intron_variant | MODIFIER | NA19068.hp1 NA19072.hp1 |
a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0013 a0001c0009t0003g0038 |
2 | 344 | 0.0058 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756825 | C | CGCTGCCA others(42): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 344 | 0.0029 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756826 | G | GCTGCCAC others(42): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0151 | 1 | 344 | 0.0029 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756898 | A | AATAGAGT others(42): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0029 | a0001c0029t0005 | a0001c0029t0005g0107 | 1 | 344 | 0.0029 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 230 | 0.0044 | 49 | c.324 others(68): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24304738 | T | TACCTCTA others(42): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0045 | a0002c0003t0045g0273 | 1 | 348 | 0.0029 | 49 | c.150 others(66): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33626521 | A | AATGGTGG others(42): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 224 | 0.0045 | 49 | c.202 others(68): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 13/23 | chr5 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 306 | 0.0033 | 49 | c.161 others(68): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72382239 | A | AAATTATA others(42): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02622.hp2 others(5): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0001c0012others(2): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0015others(4): Show | a0001c0003t0003g0022 a0001c0003t0004g0159 a0001c0003t0015g0006 others(5): Show |
8 | 182 | 0.0440 | 49 | c.661 others(68): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72529976 | T | TATATAAT others(42): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 182 | 0.0055 | 49 | c.504 others(68): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1178261 | A | AGGAGGAG others(42): Show |
3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0011 | a0011c0011 | a0011c0011t0034 | a0011c0011t0034g0076 | 1 | 106 | 0.0094 | 49 | c.*49 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 10/10 | 4931 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1178290 | C | CGAAGAGG others(42): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02257.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0017a0001c0001t0022a0001c0001t0023others(3): Show | a0001c0001t0017g0030 a0001c0001t0022g0015 a0001c0001t0023g0023 others(3): Show |
6 | 106 | 0.0566 | 49 | c.*49 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 10/10 | 4902 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1239817 | T | TCTGTCTC others(42): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 | 1 | 106 | 0.0094 | 49 | c.136 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1240174 | T | TCCCCTCT others(42): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 106 | 0.0094 | 49 | c.136 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1240275 | T | TCTCCCTC others(42): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0001 | 1 | 106 | 0.0094 | 49 | c.136 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(42): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 348 | 0.0029 | 49 | c.-17 others(60): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146691500 | A | ATAAATAT others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0009 | a0009c0038 | a0009c0038t0001 | a0009c0038t0001g0128 | 1 | 276 | 0.0036 | 49 | c.148 others(66): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61448875 | A | AAGGGAGG others(42): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01169.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0033others(7): Show | a0001c0001t0002g0013 a0001c0001t0005g0034 a0001c0002t0033g0058 others(8): Show |
11 | 58 | 0.1897 | 49 | c.-17 others(70): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADGRL4_chr1_78884764_79011730 | 79001244 | A | AGGAAGGA others(42): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0013 | a0013c0015 | a0013c0015t0006 | a0013c0015t0006g0044 | 1 | 390 | 0.0026 | 49 | c.172 others(66): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 2/14 | chr1 | TogoVar | |||||||
ADI1_chr2_3492366_3524531 | 3520522 | G | GAATCTAA others(42): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 392 | 0.0026 | 49 | c.-10 others(60): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 992 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235592278 | A | AGAAGGAG others(42): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03471.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0012a0001c0001t0048a0001c0019t0007 | a0001c0001t0012g0071 a0001c0001t0048g0054 a0001c0019t0007g0056 |
3 | 98 | 0.0306 | 49 | c.163 others(68): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235999603 | T | TGGTGGTG others(42): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG03098.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0003a0001c0002t0001a0001c0005t0004others(5): Show | a0001c0001t0003g0036 a0001c0002t0001g0004 a0001c0002t0001g0068 others(6): Show |
9 | 98 | 0.0918 | 49 | c.164 others(70): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGBL3_chr7_134981508_135140778 | 135026244 | A | ATTATTTT others(42): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 320 | 0.0031 | 49 | c.419 others(66): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77043463 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG02622.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0255 |
2 | 438 | 0.0046 | 49 | c.871 others(66): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77043482 | A | AGGGCTGA others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00621.hp1 others(53): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0276 others(45): Show |
56 | 438 | 0.1279 | 49 | c.871 others(66): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77043482 | A | AGGGCTGA others(42): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0120 a0001c0001t0012g0191 |
2 | 438 | 0.0046 | 49 | c.871 others(66): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77043507 | C | CGGACGGG others(42): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00642.hp1 others(74): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0006others(1): Show | a0001c0002t0003g0010 a0001c0002t0003g0023 a0001c0002t0003g0026 others(67): Show |
77 | 438 | 0.1758 | 49 | c.871 others(66): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77043511 | C | CGGGGCGG others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(85): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0002a0002c0003t0014a0002c0003t0015others(4): Show | a0002c0003t0002g0001 a0002c0003t0002g0003 a0002c0003t0002g0005 others(66): Show |
88 | 438 | 0.2009 | 49 | c.871 others(66): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77043511 | C | CGGGGCGG others(42): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0203 | 1 | 438 | 0.0023 | 49 | c.871 others(66): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |