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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOXL_chr2_110727573_111123548 | 110963565 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG01081.hp1 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0017others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0055a0001c0001t0001g0067a0001c0001t0001g0082others(31): Show | 34 | 150 | 0.2267 | -6 | c.106 others(27): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110972649 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(45): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(14): Show | a0001c0001t0001g0029a0001c0001t0001g0044a0001c0001t0001g0055others(45): Show | 48 | 150 | 0.3200 | -6 | c.106 others(27): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110988857 | TTGTGTG | T | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01257.hp2 others(17): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0038a0001c0001t0001g0039others(17): Show | 20 | 150 | 0.1333 | -6 | c.116 others(25): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 111084258 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01167.hp1 others(29): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0017a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0017t0002others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0024a0001c0001t0001g0025others(29): Show | 32 | 150 | 0.2133 | -6 | c.144 others(25): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACP4_chr19_50785415_50800219 | 50786851 | TACACAC | T | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02080.hp1 HG02572.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(7): Show | 16 | 380 | 0.0421 | -6 | c.-35 others(17): Show |
ACP4 | ENSG00000142513.6 | transcript | ENST00000270593.2 | protein_coding | 3563 | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39103441 | GTTTTTT | G | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0028a0001c0005t0010 | a0001c0001t0028g0226a0001c0005t0010g0140a0001c0005t0010g0143others(3): Show | 6 | 402 | 0.0149 | -6 | c.111 others(25): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACR_chr22_50733204_50750339 | 50745023 | TACCCCC | T | disruptive_inframe_deletion | MODERATE | HG00544.hp2 HG00558.hp2 NA18943.hp1 others(1): Show |
a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0001a0006c0004t0001g0005a0006c0004t0001g0012others(1): Show | 4 | 464 | 0.0086 | -6 | c.110 others(15): Show |
p.Pro others(13): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 1136/1430 | 1104/1266 | 368/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
ACSBG1_chr15_78162468_78239565 | 78173344 | CAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01243.hp1 others(4): Show |
a0002 | a0002c0002a0002c0003a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(2): Show | a0002c0002t0001g0062a0002c0002t0002g0023a0002c0002t0002g0025others(4): Show | 7 | 350 | 0.0200 | -6 | c.208 others(23): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 13/13 | chr15 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78185052 | GGAGAGA | G | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02717.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0003 | a0001c0001t0001g0315a0001c0001t0001g0316a0003c0004t0003g0190others(3): Show | 6 | 350 | 0.0171 | -6 | c.664 others(23): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 5/13 | chr15 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78218272 | GGTGGGA | G | intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 HG02027.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0016a0001c0006t0001others(3): Show | a0001c0001t0001g0171a0001c0001t0001g0198a0001c0001t0001g0209others(20): Show | 24 | 350 | 0.0686 | -6 | c.132 others(25): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6143385 | AAAAAAC | A | intron_variant | MODIFIER | HG01934.hp1 HG02615.hp1 HG02647.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0003a0002c0002t0001a0005c0006t0001 | a0001c0001t0003g0146a0002c0002t0001g0019a0002c0002t0001g0020others(12): Show | 15 | 262 | 0.0573 | -6 | c.67+ others(21): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6149504 | CTTTTTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03669.hp1 others(4): Show |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0001a0004c0003t0001 | a0002c0002t0001g0042a0004c0003t0001g0043a0004c0003t0001g0044others(4): Show | 7 | 262 | 0.0267 | -6 | c.297 others(23): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6163121 | AAATAAT | A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01884.hp1 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0017a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0017t0001others(7): Show | a0001c0001t0001g0159a0001c0001t0001g0174a0001c0001t0001g0196others(26): Show | 29 | 262 | 0.1107 | -6 | c.588 others(23): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6166280 | TTGTGTG | T | intron_variant | MODIFIER | HG00558.hp1 HG02451.hp1 HG03130.hp2 others(2): Show |
a0001a0004a0009 | a0001c0001a0001c0020a0004c0019others(1): Show | a0001c0001t0001a0001c0020t0001a0004c0019t0002others(1): Show | a0001c0001t0001g0200a0001c0001t0001g0224a0001c0020t0001g0051others(2): Show | 5 | 262 | 0.0191 | -6 | c.738 others(21): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6177875 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0024a0002c0002others(2): Show | a0001c0001t0001a0001c0024t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0037others(75): Show | 78 | 262 | 0.2977 | -6 | c.906 others(21): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6190812 | TACACAC | T | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02965.hp1 others(4): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0016 | a0001c0001t0003a0002c0002t0001a0013c0016t0001 | a0001c0001t0003g0141a0001c0001t0003g0142a0001c0001t0003g0143others(4): Show | 7 | 262 | 0.0267 | -6 | c.*35 others(21): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6197508 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001a0005a0014 | a0001c0001a0005c0006a0014c0023 | a0001c0001t0003a0005c0006t0001a0014c0023t0001 | a0001c0001t0003g0141a0001c0001t0003g0142a0001c0001t0003g0146others(4): Show | 7 | 262 | 0.0267 | -6 | c.*48 others(17): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4418 | chr19 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50436097 | TTTGTTG | T | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp2 HG01169.hp1 others(13): Show |
a0001a0002a0004 | a0001c0002a0002c0004a0004c0006 | a0001c0002t0001a0001c0002t0002a0002c0004t0002others(1): Show | a0001c0002t0001g0039a0001c0002t0001g0130a0001c0002t0001g0131others(12): Show | 16 | 320 | 0.0500 | -6 | c.128 others(23): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ACSF2_chr17_50421218_50479837 | 50456743 | GATAAAA | G | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02559.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0027a0001c0002t0001g0039a0001c0002t0001g0239others(12): Show | 16 | 320 | 0.0500 | -6 | c.129 others(23): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ACSF2_chr17_50421218_50479837 | 50461927 | GGTGTGT | G | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp2 HG01169.hp1 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0012a0002c0004t0002g0040a0002c0004t0002g0041others(6): Show | 10 | 320 | 0.0313 | -6 | c.508 others(21): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89109245 | AAAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp2 others(64): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0004others(2): Show | a0001c0001t0016a0002c0003t0005a0002c0003t0046others(13): Show | a0001c0001t0016g0241a0001c0001t0016g0242a0002c0003t0005g0015others(63): Show | 67 | 368 | 0.1821 | -6 | c.823 others(23): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89147522 | AGCGGGG | A | intron_variant | MODIFIER | HG02109.hp2 HG03490.hp2 HG03491.hp2 others(11): Show |
a0004a0005 | a0004c0004a0005c0017 | a0004c0004t0003a0004c0004t0022a0004c0004t0037others(2): Show | a0004c0004t0003g0014a0004c0004t0003g0215a0004c0004t0003g0223others(11): Show | 14 | 368 | 0.0380 | -6 | c.161 others(25): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSL1_chr4_184750595_184830968 | 184769070 | AATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00642.hp1 others(49): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(2): Show | a0001c0001t0001g0173a0001c0001t0001g0214a0001c0001t0001g0354others(46): Show | 52 | 392 | 0.1327 | -6 | c.994 others(21): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 11/20 | chr4 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184784271 | CCTCTTT | C | intron_variant | MODIFIER | HG00544.hp1 NA18947.hp1 NA18965.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003a0001c0003t0003g0022a0001c0003t0003g0080others(2): Show | 6 | 392 | 0.0153 | -6 | c.311 others(21): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184785596 | TGGGCGG | T | intron_variant | MODIFIER | HG01261.hp2 HG02622.hp2 NA18953.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0001 | a0001c0001t0001g0104a0001c0001t0001g0359a0001c0002t0002g0112others(5): Show | 8 | 392 | 0.0204 | -6 | c.311 others(23): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184786418 | GCACACA | G | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01069.hp1 others(8): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0004 | a0001c0001t0004g0344a0001c0001t0004g0346a0001c0001t0004g0347others(8): Show | 11 | 392 | 0.0281 | -6 | c.310 others(23): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184797160 | CCGCTCA | C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01081.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0173a0001c0001t0001g0214others(36): Show | 40 | 392 | 0.1020 | -6 | c.195 others(23): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 2/20 | chr4 | TogoVar | ||||||
ACSL3_chr2_222856036_222949639 | 222866753 | GCCCCCC | G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00639.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0084a0001c0001t0001g0188others(26): Show | 29 | 252 | 0.1151 | -6 | c.-20 others(25): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACSL3_chr2_222856036_222949639 | 222914234 | CGTGTGT | C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01074.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0016others(21): Show | 25 | 252 | 0.0992 | -6 | c.379 others(23): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACSL3_chr2_222856036_222949639 | 222937228 | AGTTATT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0002g0129a0001c0001t0002g0132a0001c0001t0002g0142others(87): Show | 90 | 252 | 0.3571 | -6 | c.200 others(25): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACSL4_chrX_109636335_109738257 | 109685088 | CTTTTTT | C | intron_variant | MODIFIER | HG02135.hp1 NA18959.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0117a0001c0001t0001g0124 | 3 | 222 | 0.0135 | -6 | c.-12 others(23): Show |
ACSL4 | ENSG00000068366.21 | transcript | ENST00000672401.1 | protein_coding | 2/15 | chrX | TogoVar | ||||||
ACSL4_chrX_109636335_109738257 | 109717827 | TCGTGAA | T | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0096 | 1 | 222 | 0.0045 | -6 | c.-66 others(25): Show |
ACSL4 | ENSG00000068366.21 | transcript | ENST00000672401.1 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACSL4_chrX_109636335_109738257 | 109727657 | TTGTGTG | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00621.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0081a0001c0001t0001g0082others(21): Show | 25 | 222 | 0.1126 | -6 | c.-66 others(23): Show |
ACSL4 | ENSG00000068366.21 | transcript | ENST00000672401.1 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112381665 | CAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01192.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(10): Show | 13 | 364 | 0.0357 | -6 | c.-30 others(23): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112423187 | CAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01081.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0003 | a0001c0001t0003g0312a0001c0001t0003g0314a0001c0001t0003g0319others(17): Show | 20 | 364 | 0.0550 | -6 | c.159 others(23): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL6_chr5_131944973_132016658 | 131967668 | TTAATAA | T | intron_variant | MODIFIER | HG00673.hp1 HG03927.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0044a0001c0001t0001g0067a0001c0001t0001g0069others(3): Show | 6 | 326 | 0.0184 | -6 | c.159 others(23): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 16/20 | chr5 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20622192 | GGTGGGT | G | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02027.hp2 HG02055.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0002a0001c0003t0001a0001c0003t0005others(1): Show | a0001c0001t0002g0094a0001c0001t0002g0235a0001c0001t0002g0261others(10): Show | 13 | 318 | 0.0409 | -6 | c.*12 others(17): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1042 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627869 | CATATAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG02027.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0002a0001c0003t0001a0003c0006t0001 | a0001c0001t0002g0025a0001c0001t0002g0261a0001c0001t0002g0265others(12): Show | 15 | 318 | 0.0472 | -6 | c.130 others(23): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20644538 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01099.hp1 others(83): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0027others(82): Show | 86 | 318 | 0.2704 | -6 | c.993 others(23): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20669441 | AACACAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0002g0018a0001c0001t0002g0038a0001c0001t0002g0041others(32): Show | 35 | 318 | 0.1101 | -6 | c.912 others(21): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20671440 | GACACAC | G | intron_variant | MODIFIER | HG02257.hp2 HG03139.hp1 HG03710.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0074a0001c0001t0002g0094a0001c0001t0002g0294others(1): Show | 4 | 318 | 0.0126 | -6 | c.752 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20685830 | AACAAAC | A | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0002t0001a0001c0007t0001 | a0001c0001t0002g0074a0001c0001t0002g0094a0001c0001t0002g0098others(6): Show | 9 | 318 | 0.0283 | -6 | c.193 others(21): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20691751 | ATGTGTG | A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00673.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0002g0025a0001c0001t0002g0215a0001c0001t0002g0216others(21): Show | 24 | 318 | 0.0755 | -6 | c.-51 others(21): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20697556 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(72): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0002g0002a0001c0001t0002g0098a0001c0001t0002g0100others(70): Show | 75 | 318 | 0.2359 | -6 | c.-52 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | CTGTGTG | C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02630.hp2 others(1): Show |
a0001a0003a0010 | a0001c0004a0003c0007a0003c0008others(1): Show | a0001c0004t0007a0003c0007t0007a0003c0008t0011others(1): Show | a0001c0004t0007g0016a0003c0007t0007g0322a0003c0008t0011g0316others(1): Show | 4 | 388 | 0.0103 | -6 | c.*17 others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | TTATATA | T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01346.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0002others(5): Show | a0001c0001t0001g0165a0001c0002t0002g0233a0001c0002t0002g0234others(13): Show | 18 | 388 | 0.0464 | -6 | c.-8- others(21): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20421615 | CTATATA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp2 others(68): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0007others(16): Show | a0001c0001t0001g0026a0001c0001t0001g0043a0001c0001t0001g0180others(53): Show | 71 | 434 | 0.1636 | -6 | c.767 others(21): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20430200 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02109.hp1 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0001c0037others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0007t0007others(6): Show | a0001c0001t0001g0134a0001c0001t0001g0174a0001c0001t0001g0186others(14): Show | 17 | 434 | 0.0392 | -6 | c.112 others(23): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34911685 | CTATTTA | C | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0204 | 3 | 312 | 0.0096 | -6 | c.375 others(23): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34919576 | AGTGTGT | A | intron_variant | MODIFIER | HG01346.hp1 HG02015.hp2 HG02717.hp2 others(11): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0276a0001c0001t0001g0282a0001c0001t0001g0287others(11): Show | 14 | 312 | 0.0449 | -6 | c.972 others(19): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |