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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM2A_chr16_20446521_20492669 | 20458905 | C | CATATAT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG01106.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0027a0008c0008t0001 | a0001c0001t0001g0039a0001c0001t0001g0091a0001c0001t0027g0153others(1): Show | 4 | 436 | 0.0092 | 6 | c.-8- others(21): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2A_chr16_20446521_20492669 | 20483569 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0002a0005c0005t0001others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0039a0001c0001t0001g0088others(10): Show | 16 | 436 | 0.0367 | 6 | c.162 others(23): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2A_chr16_20446521_20492669 | 20488494 | C | CAGAGAG | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(17): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0003c0010others(7): Show | a0001c0001t0006a0003c0003t0007a0003c0010t0006others(7): Show | a0001c0001t0006g0090a0003c0003t0007g0271a0003c0010t0006g0164others(15): Show | 20 | 436 | 0.0459 | 6 | c.*18 others(17): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 826 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG00735.hp1 others(30): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0001g0165a0001c0002t0002g0111a0001c0002t0002g0222others(29): Show | 33 | 388 | 0.0851 | 6 | c.*17 others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTATATA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp1 others(22): Show |
a0001a0005a0009 | a0001c0002a0001c0006a0005c0011others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0002t0002g0007a0001c0002t0002g0025a0001c0002t0002g0247others(18): Show | 25 | 388 | 0.0644 | 6 | c.-8- others(21): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTTTATA | intron_variant | MODIFIER | HG01891.hp2 HG01975.hp2 HG02976.hp2 others(2): Show |
a0002 | a0002c0003a0002c0018 | a0002c0003t0005a0002c0018t0005 | a0002c0003t0005g0043a0002c0003t0005g0046a0002c0003t0005g0055others(2): Show | 5 | 388 | 0.0129 | 6 | c.-8- others(21): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20418259 | C | CATGCGG | disruptive_inframe_insertion others(1): Show |
MODERATE | NA18978.hp1 NA18978.hp2 NA19090.hp2 |
a0014a0021 | a0014c0019a0021c0042 | a0014c0019t0001a0014c0019t0021a0021c0042t0003 | a0014c0019t0001g0252a0014c0019t0021g0106a0021c0042t0003g0118 | 3 | 434 | 0.0069 | 6 | c.407 others(13): Show |
p.Met others(13): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 3/14 | 560/2796 | 413/1740 | 138/579 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
ACSM5_chr16_20404534_20446336 | 20431948 | A | AAATAAT | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02818.hp2 others(3): Show |
a0001a0009 | a0001c0001a0001c0037a0009c0010 | a0001c0001t0013a0001c0037t0010a0009c0010t0007 | a0001c0001t0013g0295a0001c0037t0010g0285a0009c0010t0007g0304others(3): Show | 6 | 434 | 0.0138 | 6 | c.130 others(23): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20432847 | C | CTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02280.hp2 others(19): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0004a0007c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(18): Show | 22 | 434 | 0.0507 | 6 | c.130 others(25): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20433840 | A | ATTTTTT | intron_variant | MODIFIER | HG02015.hp1 HG02080.hp1 HG02129.hp1 others(10): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0003a0005c0005t0003 | a0003c0003t0003g0103a0003c0003t0003g0112a0003c0003t0003g0140others(10): Show | 13 | 434 | 0.0300 | 6 | c.130 others(25): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20436025 | T | TTCTTTC | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02809.hp1 others(2): Show |
a0005a0012 | a0005c0005a0012c0013 | a0005c0005t0012a0012c0013t0008 | a0005c0005t0012g0039a0012c0013t0008g0033a0012c0013t0008g0311 | 5 | 434 | 0.0115 | 6 | c.130 others(25): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20444428 | A | AATAAAG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(269): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(237): Show | 272 | 434 | 0.6267 | 6 | c.*40 others(17): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 3093 | chr16 | TogoVar | ||||||
ACSM6_chr10_95189238_95233929 | 95200558 | A | AGAAGAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(106): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0005others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(6): Show | a0001c0001t0001g0042a0001c0001t0001g0051a0002c0002t0001g0006others(81): Show | 109 | 314 | 0.3471 | 6 | c.193 others(23): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSM6_chr10_95189238_95233929 | 95200597 | A | AAGAAGG | intron_variant | MODIFIER | HG01109.hp1 HG03453.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 3 | 314 | 0.0096 | 6 | c.193 others(23): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSM6_chr10_95189238_95233929 | 95208933 | T | TAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01109.hp2 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006a0002c0002t0001g0039a0002c0002t0001g0180others(11): Show | 19 | 314 | 0.0605 | 6 | c.611 others(23): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34879496 | G | GACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(68): Show |
a0001a0004a0005others(2): Show | a0001c0002a0001c0003a0001c0013others(4): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(5): Show | a0001c0002t0001g0003a0001c0002t0001g0010a0001c0002t0001g0019others(67): Show | 71 | 312 | 0.2276 | 6 | c.178 others(23): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34899420 | T | TTCTTTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0154others(44): Show | 47 | 312 | 0.1506 | 6 | c.375 others(25): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81073680 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0035a0001c0001t0001g0045a0001c0001t0001g0046others(55): Show | 58 | 290 | 0.2000 | 6 | c.-44 others(17): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4398 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81094180 | C | CTGTGTG | intron_variant | MODIFIER | HG01074.hp2 HG02970.hp2 HG06807.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0004a0002c0003t0005a0002c0004t0001others(4): Show | a0001c0001t0004g0232a0002c0003t0005g0271a0002c0003t0005g0272others(17): Show | 20 | 290 | 0.0690 | 6 | c.312 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81098151 | A | AGAGTGT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0042others(54): Show | 57 | 290 | 0.1966 | 6 | c.312 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107503 | A | AATATAT | intron_variant | MODIFIER | HG01106.hp1 HG01257.hp1 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020a0001c0001t0003g0263a0001c0001t0003g0265others(1): Show | 4 | 290 | 0.0138 | 6 | c.312 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CACACAT | intron_variant | MODIFIER | HG03704.hp1 HG03710.hp2 NA18981.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0207a0001c0001t0003g0212a0001c0001t0003g0214others(1): Show | 4 | 290 | 0.0138 | 6 | c.312 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CATATAT | intron_variant | MODIFIER | HG01257.hp2 HG01496.hp2 HG02698.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0042a0001c0001t0001g0067a0001c0001t0001g0097others(3): Show | 6 | 290 | 0.0207 | 6 | c.312 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81121915 | A | ATATTAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG02559.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0005t0005others(8): Show | a0001c0001t0003g0210a0001c0001t0003g0211a0001c0001t0003g0212others(24): Show | 27 | 290 | 0.0931 | 6 | c.456 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81137321 | T | TCACACA | intron_variant | MODIFIER | HG02451.hp1 NA18949.hp2 NA18955.hp1 others(4): Show |
a0001a0002a0003 | a0001c0013a0002c0003a0002c0004others(1): Show | a0001c0013t0018a0002c0003t0005a0002c0004t0003others(1): Show | a0001c0013t0018g0290a0002c0003t0005g0272a0002c0003t0005g0273others(4): Show | 7 | 290 | 0.0241 | 6 | c.646 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81147866 | T | TACACAC | intron_variant | MODIFIER | HG02976.hp1 HG03041.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0002a0001c0005t0007 | a0001c0001t0004g0192a0001c0002t0002g0009a0001c0005t0007g0003others(2): Show | 5 | 290 | 0.0172 | 6 | c.922 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81157931 | T | TACACAC | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01169.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0094others(24): Show | 27 | 290 | 0.0931 | 6 | c.109 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTTTCTT | intron_variant | MODIFIER | HG03209.hp2 HG03516.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020 | a0001c0001t0001g0119a0001c0001t0003g0200a0001c0001t0020g0061 | 3 | 290 | 0.0103 | 6 | c.135 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81227398 | T | TACACAC | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01257.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0029others(7): Show | a0001c0001t0001g0205a0001c0001t0003g0261a0001c0001t0003g0262others(27): Show | 30 | 290 | 0.1035 | 6 | c.151 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTA1_chr1_229426245_229439094 | 229430777 | A | AAAAAAC | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01516.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0023 | 11 | 450 | 0.0244 | 6 | c.*71 others(15): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 467 | chr1 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229432496 | C | CGGCGGG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(43): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0024others(1): Show | 46 | 450 | 0.1022 | 6 | c.454 others(19): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229435461 | C | CCTCTCT | upstream_gene_variant | MODIFIER | HG03831.hp1 HG04228.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 450 | 0.0067 | 6 | c.-14 others(17): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88932032 | G | GATTATT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01109.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0016others(8): Show | 19 | 402 | 0.0473 | 6 | c.*31 others(17): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3041 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934612 | T | TACACAC | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02074.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(5): Show | 11 | 402 | 0.0274 | 6 | c.*60 others(15): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | ||||||
ACTB_chr7_5522148_5535601 | 5532355 | C | CGCTACA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(128): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0072others(29): Show | 131 | 370 | 0.3541 | 6 | c.-18 others(17): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 1755 | chr7 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34791307 | T | TCACACA | intron_variant | MODIFIER | HG00642.hp1 HG01516.hp2 HG02056.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0028a0001c0001t0001g0097 | 12 | 496 | 0.0242 | 6 | c.809 others(19): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 5/6 | chr15 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73901532 | A | ATGTGTG | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0002g0117a0001c0002t0002g0024a0001c0002t0002g0077others(20): Show | 23 | 416 | 0.0553 | 6 | c.126 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904775 | G | GTATATA | intron_variant | MODIFIER | HG00408.hp1 NA18944.hp1 NA18969.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0160a0001c0002t0002g0163a0001c0002t0004g0283 | 3 | 416 | 0.0072 | 6 | c.255 others(23): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTATATA | intron_variant | MODIFIER | HG00544.hp2 HG03139.hp2 HG04228.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0357a0001c0002t0001g0263a0001c0002t0002g0011others(3): Show | 7 | 416 | 0.0168 | 6 | c.255 others(23): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73913170 | C | CAAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG01515.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0129a0001c0001t0001g0150a0001c0001t0001g0210others(11): Show | 14 | 416 | 0.0337 | 6 | c.452 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73924580 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02602.hp1 HG02698.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0005g0013a0001c0001t0005g0178a0001c0001t0005g0358others(5): Show | 8 | 416 | 0.0192 | 6 | c.*50 others(17): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4716 | chr2 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TACACAC | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01167.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0022others(16): Show | 33 | 380 | 0.0868 | 6 | c.769 others(23): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TATACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(92): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0004 | a0001c0001t0001a0001c0003t0001a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0015others(39): Show | 95 | 380 | 0.2500 | 6 | c.769 others(23): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTL6B_chr7_100638097_100661448 | 100654432 | C | CATAATA | intron_variant | MODIFIER | HG02818.hp1 NA18983.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238a0001c0001t0001g0239a0001c0001t0001g0240 | 3 | 360 | 0.0083 | 6 | c.369 others(21): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17785085 | C | CATGGTA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(13): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0045others(76): Show | 79 | 366 | 0.2159 | 6 | c.-25 others(25): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17789838 | G | GTGTCAT | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0008t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0358others(3): Show | 6 | 366 | 0.0164 | 6 | c.-24 others(25): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17796306 | C | CTGTGTG | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0006a0001c0005t0001others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0001t0001g0100others(7): Show | 10 | 366 | 0.0273 | 6 | c.-24 others(25): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AAGAGAG | downstream_gene_variant | MODIFIER | HG01433.hp1 HG01517.hp1 HG02559.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0001g0000others(2): Show | 19 | 356 | 0.0534 | 6 | c.*25 others(17): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68933131 | T | TTTATTA | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01243.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0138a0001c0001t0001g0169a0001c0001t0001g0206others(8): Show | 11 | 284 | 0.0387 | 6 | c.106 others(23): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236693177 | G | GCACACA | intron_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG01361.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0205a0001c0001t0003g0173a0001c0001t0004g0204others(4): Show | 7 | 344 | 0.0204 | 6 | c.126 others(23): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |