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 | 20458909 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG03831.hp1 NA19064.hp2 |
a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0171a0003c0003t0012g0172 | 2 | 436 | 0.0046 | 10 | c.-8- others(25): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2A_chr16_20446521_20492669 | 20488494 | C | CAGAGAGA others(3): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG02738.hp1 HG02965.hp1 others(6): Show |
a0003a0004 | a0003c0003a0003c0010a0004c0004 | a0003c0003t0007a0003c0003t0012a0003c0010t0006others(1): Show | a0003c0003t0007g0011a0003c0003t0007g0249a0003c0003t0012g0171others(4): Show | 9 | 436 | 0.0206 | 10 | c.*18 others(21): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 826 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTCTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01261.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0238a0001c0002t0002g0315 | 2 | 388 | 0.0052 | 10 | c.*17 others(21): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG01167.hp2 others(10): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0004t0002others(3): Show | a0001c0002t0002g0248a0001c0002t0002g0250a0001c0002t0004g0266others(8): Show | 13 | 388 | 0.0335 | 10 | c.*17 others(21): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20561979 | C | CTTGCCAT others(3): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03927.hp2 |
a0009 | a0009c0015 | a0009c0015t0008 | a0009c0015t0008g0032a0009c0015t0008g0329 | 3 | 388 | 0.0077 | 10 | c.178 others(27): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTTTATAT others(3): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01943.hp1 HG02040.hp1 others(13): Show |
a0002 | a0002c0003a0002c0009a0002c0019 | a0002c0003t0005a0002c0003t0013a0002c0009t0009others(1): Show | a0002c0003t0005g0042a0002c0003t0005g0052a0002c0003t0005g0064others(12): Show | 16 | 388 | 0.0412 | 10 | c.-8- others(25): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566700 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 388 | 0.0026 | 10 | c.-8- others(25): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20432847 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00738.hp2 others(33): Show |
a0001a0004a0008others(4): Show | a0001c0001a0001c0007a0001c0037others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0007others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0054a0001c0001t0001g0092others(32): Show | 36 | 434 | 0.0830 | 10 | c.130 others(29): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20436112 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(64): Show |
a0003a0005a0008others(3): Show | a0003c0003a0005c0005a0008c0008others(3): Show | a0003c0003t0001a0003c0003t0003a0005c0005t0003others(6): Show | a0003c0003t0001g0098a0003c0003t0001g0234a0003c0003t0003g0008others(57): Show | 67 | 434 | 0.1544 | 10 | c.130 others(27): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSS1_chr20_25001237_25063139 | 25028918 | C | CAAAAAGA others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0025 | a0001c0025t0003 | a0001c0025t0003g0207 | 1 | 244 | 0.0041 | 10 | c.631 others(27): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 3/13 | chr20 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25033147 | C | CACAGCAG others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0025 | a0001c0025t0003 | a0001c0025t0003g0207 | 1 | 244 | 0.0041 | 10 | c.432 others(27): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25033147 | C | CATAGCAG others(3): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp1 others(87): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0007a0001c0010others(17): Show | a0001c0003t0003a0001c0007t0001a0001c0007t0006others(20): Show | a0001c0003t0003g0005a0001c0003t0003g0008a0001c0003t0003g0013others(79): Show | 90 | 244 | 0.3689 | 10 | c.432 others(27): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34879496 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02273.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0045a0001c0003t0001g0132a0001c0003t0001g0133others(1): Show | 4 | 312 | 0.0128 | 10 | c.178 others(27): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34899416 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(36): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0159others(34): Show | 39 | 312 | 0.1250 | 10 | c.375 others(29): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81073209 | C | CTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0035a0001c0001t0001g0055a0001c0001t0001g0062others(54): Show | 57 | 290 | 0.1966 | 10 | c.-49 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4869 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81098151 | A | AGAGTGTG others(3): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 290 | 0.0035 | 10 | c.312 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107503 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0257a0001c0001t0004g0021 | 2 | 290 | 0.0069 | 10 | c.312 others(27): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CACACATA others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19003.hp1 NA19077.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0003g0206others(1): Show | 4 | 290 | 0.0138 | 10 | c.312 others(27): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81157931 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107a0001c0001t0004g0197 | 2 | 290 | 0.0069 | 10 | c.109 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81172259 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01070.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(9): Show | a0001c0001t0001g0055a0001c0001t0001g0063a0001c0001t0001g0129others(25): Show | 28 | 290 | 0.0966 | 10 | c.109 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213558 | C | CCTCCTCT others(3): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp1 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0011a0001c0005t0007g0012 | 2 | 290 | 0.0069 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213580 | T | TCCTCCCC others(3): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0118 | 3 | 290 | 0.0103 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213702 | T | TCTCCCCT others(3): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0242 | 1 | 290 | 0.0035 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213702 | T | TCTCCCCT others(3): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02630.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0032 | a0001c0002t0002g0244a0001c0002t0032g0109 | 2 | 290 | 0.0069 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213793 | T | TTTCTCTT others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01496.hp2 HG01928.hp2 others(24): Show |
a0001 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0026others(24): Show | 27 | 290 | 0.0931 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213840 | T | TCTCTTCT others(3): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02683.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0022a0001c0002t0002 | a0001c0001t0003g0214a0001c0001t0022g0242a0001c0002t0002g0141 | 3 | 290 | 0.0103 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213851 | C | CTCTCCTC others(3): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01496.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0119a0001c0001t0003g0250a0001c0001t0004g0021others(19): Show | 22 | 290 | 0.0759 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213938 | T | TTCCTTCC others(3): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 | 1 | 290 | 0.0035 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTCTTT others(3): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 290 | 0.0035 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 290 | 0.0035 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81227398 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01167.hp1 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071a0001c0002t0002g0213 | 2 | 290 | 0.0069 | 10 | c.151 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTA1_chr1_229426245_229439094 | 229435461 | C | CCTCTCTC others(3): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 450 | 0.0044 | 10 | c.-14 others(21): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934612 | T | TACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG01255.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0063others(4): Show | 11 | 402 | 0.0274 | 10 | c.*60 others(19): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73901532 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02165.hp2 NA18949.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0311a0001c0002t0002g0055a0001c0002t0002g0169others(2): Show | 5 | 416 | 0.0120 | 10 | c.126 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73902035 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0007 | a0001c0003t0002g0262a0001c0003t0004g0048a0001c0003t0004g0049others(1): Show | 4 | 416 | 0.0096 | 10 | c.127 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73902037 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18522.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0001 | a0001c0001t0004g0003a0001c0003t0001g0396 | 3 | 416 | 0.0072 | 10 | c.127 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73902039 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(153): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(145): Show | 156 | 416 | 0.3750 | 10 | c.127 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73902047 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0031 | 1 | 416 | 0.0024 | 10 | c.127 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904775 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18973.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0234a0001c0002t0003g0019 | 2 | 416 | 0.0048 | 10 | c.255 others(27): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03516.hp1 NA18994.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0009 | a0001c0002t0003g0037a0001c0002t0004g0170a0001c0002t0004g0306others(1): Show | 4 | 416 | 0.0096 | 10 | c.255 others(27): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02683.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0126a0001c0002t0002g0264a0001c0002t0002g0270 | 3 | 416 | 0.0072 | 10 | c.255 others(27): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73919942 | G | GAGAGAGG others(3): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0387 | 1 | 416 | 0.0024 | 10 | c.*36 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 78 | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73923641 | C | CAAGAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0016others(58): Show | 62 | 416 | 0.1490 | 10 | c.*40 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179579453 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 380 | 0.0026 | 10 | c.769 others(27): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG02145.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0179others(8): Show | 15 | 380 | 0.0395 | 10 | c.769 others(27): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17796306 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01891.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0118others(18): Show | 22 | 366 | 0.0601 | 10 | c.-24 others(29): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17802424 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19010.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0037a0002c0004t0001g0320a0002c0004t0001g0336 | 3 | 366 | 0.0082 | 10 | c.-24 others(29): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17816200 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03195.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0006 | a0001c0005t0001g0176a0001c0005t0001g0304a0001c0005t0001g0305others(2): Show | 5 | 366 | 0.0137 | 10 | c.-24 others(27): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AAGAGAGA others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0001g0000others(2): Show | 27 | 356 | 0.0758 | 10 | c.*25 others(21): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40753386 | T | TTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0037 | 2 | 426 | 0.0047 | 10 | c.-35 others(21): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2910 | chr19 | TogoVar |