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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSS2_chr20_34871612_34932959 | 34921691 | CAT | C | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02723.hp2 others(7): Show |
a0002a0006 | a0002c0004a0006c0012 | a0002c0004t0001a0006c0012t0001 | a0002c0004t0001g0009a0002c0004t0001g0013a0002c0004t0001g0014others(7): Show | 10 | 312 | 0.0321 | -2 | c.146 others(17): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 12/17 | chr20 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81074174 | CAG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(127): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(127): Show | 130 | 290 | 0.4483 | -2 | c.-39 others(13): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 3904 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81074423 | TTC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(264): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(264): Show | 267 | 290 | 0.9207 | -2 | c.-36 others(13): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 3655 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81098179 | TGA | T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02965.hp1 others(19): Show |
a0002a0003 | a0002c0003a0002c0004a0002c0009others(2): Show | a0002c0003t0005a0002c0004t0001a0002c0004t0003others(4): Show | a0002c0003t0005g0271a0002c0003t0005g0272a0002c0003t0005g0273others(19): Show | 22 | 290 | 0.0759 | -2 | c.312 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81102045 | GCA | G | intron_variant | MODIFIER | HG02486.hp1 HG03516.hp2 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0028a0002c0009t0002 | a0001c0001t0001g0119a0001c0001t0028g0038a0002c0009t0002g0270 | 3 | 290 | 0.0103 | -2 | c.312 others(19): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81105230 | CAT | C | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0002a0001c0005t0007 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0002t0002g0009others(3): Show | 6 | 290 | 0.0207 | -2 | c.312 others(19): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81107509 | TAC | T | intron_variant | MODIFIER | HG01255.hp1 HG03579.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0007 | a0001c0001t0001g0026a0001c0001t0003g0243a0001c0005t0007g0006 | 3 | 290 | 0.0103 | -2 | c.312 others(19): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107511 | CAT | C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01069.hp2 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0035a0001c0001t0001g0037others(50): Show | 53 | 290 | 0.1828 | -2 | c.312 others(19): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81120076 | AGT | A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00738.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(6): Show | a0001c0001t0001g0235a0001c0001t0001g0239a0001c0001t0001g0241others(33): Show | 36 | 290 | 0.1241 | -2 | c.456 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81133117 | GTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00738.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0235a0001c0001t0001g0239others(34): Show | 37 | 290 | 0.1276 | -2 | c.457 others(19): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81135371 | TTA | T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02257.hp2 others(29): Show |
a0002a0003 | a0002c0003a0002c0004a0002c0009others(3): Show | a0002c0003t0005a0002c0004t0001a0002c0004t0003others(6): Show | a0002c0003t0005g0152a0002c0003t0005g0153a0002c0003t0005g0154others(29): Show | 32 | 290 | 0.1103 | -2 | c.645 others(17): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81137321 | TCA | T | intron_variant | MODIFIER | HG01074.hp2 HG02809.hp1 HG02895.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0145a0001c0001t0001g0148a0001c0001t0004g0232others(2): Show | 5 | 290 | 0.0172 | -2 | c.646 others(19): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81145067 | ATT | A | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 HG02630.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(20): Show | 23 | 290 | 0.0793 | -2 | c.921 others(19): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81156185 | AAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0033a0001c0001t0001g0037a0001c0001t0001g0055others(88): Show | 91 | 290 | 0.3138 | -2 | c.109 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81157931 | TAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00597.hp2 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0020others(9): Show | a0001c0001t0003g0181a0001c0001t0003g0206a0001c0001t0003g0207others(47): Show | 50 | 290 | 0.1724 | -2 | c.109 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81163251 | CAT | C | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0224a0001c0001t0001g0225others(1): Show | 4 | 290 | 0.0138 | -2 | c.109 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81164219 | ACC | A | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 NA18906.hp1 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0150a0001c0005t0007g0151a0001c0005t0007g0289 | 3 | 290 | 0.0103 | -2 | c.109 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81173523 | AAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01261.hp2 others(34): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(5): Show | a0001c0001t0001g0160a0001c0001t0013g0173a0001c0002t0002g0009others(34): Show | 37 | 290 | 0.1276 | -2 | c.109 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81173942 | GAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(202): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0033a0001c0001t0001g0037a0001c0001t0001g0055others(202): Show | 205 | 290 | 0.7069 | -2 | c.109 others(19): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81208469 | GCC | G | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0003a0001c0005t0007g0011a0001c0005t0007g0012others(3): Show | 6 | 290 | 0.0207 | -2 | c.135 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81209388 | TAA | T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0003g0181a0001c0001t0003g0206a0001c0001t0003g0207others(61): Show | 64 | 290 | 0.2207 | -2 | c.135 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81224561 | TAC | T | intron_variant | MODIFIER | HG02135.hp1 HG02976.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0007 | a0001c0001t0001g0055a0001c0005t0007g0003a0001c0005t0007g0011others(1): Show | 4 | 290 | 0.0138 | -2 | c.151 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81224573 | CAT | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00738.hp1 others(81): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0086a0001c0001t0001g0131a0001c0001t0001g0205others(81): Show | 84 | 290 | 0.2897 | -2 | c.151 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81224574 | ATG | A | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0018 | a0001c0001t0001g0148a0001c0001t0001g0160a0001c0001t0001g0247others(1): Show | 4 | 290 | 0.0138 | -2 | c.151 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81226964 | TAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(134): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0119a0001c0001t0001g0205a0001c0001t0003g0094others(134): Show | 137 | 290 | 0.4724 | -2 | c.151 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81244905 | CTG | C | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01167.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0054a0001c0001t0004g0021others(31): Show | 34 | 290 | 0.1172 | -2 | c.172 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTA1_chr1_229426245_229439094 | 229435461 | CCT | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0001a0001c0001t0002g0004others(3): Show | 48 | 450 | 0.1067 | -2 | c.-14 others(13): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88931820 | CCT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01123.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0063a0001c0001t0001g0092others(2): Show | 10 | 402 | 0.0249 | -2 | c.*34 others(13): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3253 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934363 | TCA | T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01884.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0023others(14): Show | 30 | 402 | 0.0746 | -2 | c.*85 others(11): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 710 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934612 | TAC | T | downstream_gene_variant | MODIFIER | HG03492.hp1 HG04115.hp1 NA18747.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0058 | 10 | 402 | 0.0249 | -2 | c.*60 others(11): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934714 | CGT | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01884.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0023others(14): Show | 30 | 402 | 0.0746 | -2 | c.*50 others(11): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 359 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88955032 | AAG | A | upstream_gene_variant | MODIFIER | NA18939.hp2 NA18969.hp2 NA18988.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0061 | 7 | 402 | 0.0174 | -2 | c.-23 others(13): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 2260 | chr10 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34791307 | TCA | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0031others(12): Show | 30 | 496 | 0.0605 | -2 | c.809 others(15): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 5/6 | chr15 | TogoVar | ||||||
ACTG1_chr17_81504971_81517799 | 81505794 | ATT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0002t0002a0001c0003t0001 | a0001c0001t0009g0019a0001c0002t0002g0003a0001c0003t0001g0002 | 25 | 370 | 0.0676 | -2 | c.*48 others(13): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4176 | chr17 | TogoVar | ||||||
ACTG1_chr17_81504971_81517799 | 81507400 | TTG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(38): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0012a0001c0003t0001a0001c0003t0016others(3): Show | a0001c0001t0012g0022a0001c0003t0001g0002a0001c0003t0001g0031others(5): Show | 41 | 370 | 0.1108 | -2 | c.*32 others(13): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2570 | chr17 | TogoVar | ||||||
ACTG1_chr17_81504971_81517799 | 81507896 | TTC | T | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG03486.hp2 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0018 | 3 | 370 | 0.0081 | -2 | c.*27 others(13): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2074 | chr17 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73896347 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(188): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(179): Show | 191 | 416 | 0.4591 | -2 | c.-37 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73901532 | ATG | A | intron_variant | MODIFIER | HG00642.hp1 HG01891.hp2 HG02080.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0002g0030a0001c0002t0002g0092a0001c0002t0002g0108others(11): Show | 14 | 416 | 0.0337 | -2 | c.126 others(17): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73901587 | CGT | C | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02486.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0008g0038a0001c0002t0002g0041a0001c0002t0002g0350others(9): Show | 13 | 416 | 0.0313 | -2 | c.126 others(17): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73902041 | CTG | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0027a0001c0001t0005g0025a0001c0001t0005g0026others(2): Show | 5 | 416 | 0.0120 | -2 | c.127 others(17): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73903939 | CAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG02071.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003 | a0001c0001t0001g0027a0001c0001t0005g0373a0001c0001t0005g0381others(11): Show | 14 | 416 | 0.0337 | -2 | c.255 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73903958 | AAC | A | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0090a0001c0001t0001g0363others(12): Show | 16 | 416 | 0.0385 | -2 | c.255 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904248 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(185): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(172): Show | 188 | 416 | 0.4519 | -2 | c.255 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904739 | TTG | T | intron_variant | MODIFIER | HG02015.hp1 HG02698.hp2 HG03490.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0154a0001c0002t0002g0172a0001c0002t0002g0220others(6): Show | 9 | 416 | 0.0216 | -2 | c.255 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904777 | GTA | G | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp2 HG03195.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0008g0066a0001c0002t0002g0221a0001c0002t0002g0299others(10): Show | 13 | 416 | 0.0313 | -2 | c.255 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73914558 | CAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02723.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0034a0001c0002t0004g0035a0001c0002t0004g0078others(3): Show | 6 | 416 | 0.0144 | -2 | c.614 others(17): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73916374 | GAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(179): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(169): Show | 182 | 416 | 0.4375 | -2 | c.806 others(17): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTL6A_chr3_179557926_179593407 | 179565423 | CAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0004 | a0001c0001t0001a0001c0003t0001a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(66): Show | 139 | 380 | 0.3658 | -2 | c.25+ others(17): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTL6A_chr3_179557926_179593407 | 179580795 | CCT | C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00673.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0014others(22): Show | 45 | 380 | 0.1184 | -2 | c.830 others(15): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 9/13 | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179585792 | GAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01070.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0012others(27): Show | 56 | 380 | 0.1474 | -2 | c.112 others(19): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |