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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH4A1_chr1_18866430_18907555 | 18878163 | AGCT | A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02486.hp1 others(6): Show |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0002a0001c0001t0005a0007c0014t0005 | a0001c0001t0002g0039a0001c0001t0002g0287a0001c0001t0005g0015others(3): Show | 9 | 406 | 0.0222 | -3 | c.941 others(18): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 9/14 | chr1 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24492505 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(181): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0012a0001c0001t0001g0135a0001c0001t0001g0141others(175): Show | 184 | 368 | 0.5000 | -3 | c.-24 others(14): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 2463 | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24499665 | TTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG01496.hp1 others(3): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0012 | a0002c0002t0003a0002c0002t0012a0003c0003t0001others(1): Show | a0002c0002t0003g0342a0002c0002t0003g0345a0002c0002t0003g0346others(3): Show | 6 | 368 | 0.0163 | -3 | c.355 others(20): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24500647 | AAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG02257.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0007a0002c0002t0012a0004c0006t0002others(1): Show | a0001c0001t0007g0314a0002c0002t0012g0022a0004c0006t0002g0327others(1): Show | 4 | 368 | 0.0109 | -3 | c.355 others(20): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24501600 | CAGT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(107): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0015a0003c0003others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(19): Show | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0080others(105): Show | 110 | 368 | 0.2989 | -3 | c.355 others(18): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24505933 | ACTC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(61): Show |
a0002a0005a0009others(2): Show | a0002c0002a0002c0015a0005c0007others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(13): Show | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0080others(59): Show | 64 | 368 | 0.1739 | -3 | c.726 others(18): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24506243 | CTTT | C | intron_variant | MODIFIER | HG01943.hp2 HG02258.hp2 HG02622.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0015others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0186a0002c0002t0002g0061a0002c0002t0003g0344others(6): Show | 9 | 368 | 0.0245 | -3 | c.726 others(20): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24506925 | TTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(189): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0012a0001c0001t0001g0126a0001c0001t0001g0134others(182): Show | 192 | 368 | 0.5217 | -3 | c.726 others(20): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24508388 | AGAT | A | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp2 HG02451.hp2 others(16): Show |
a0001a0004a0007 | a0001c0001a0004c0006a0007c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0168a0001c0001t0001g0173a0001c0001t0001g0186others(16): Show | 19 | 368 | 0.0516 | -3 | c.726 others(20): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24526961 | TATA | T | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0323a0001c0001t0003g0326a0001c0001t0003g0354 | 3 | 368 | 0.0082 | -3 | c.117 others(22): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126538155 | CAAA | C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01975.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0012a0001c0001t0036others(4): Show | a0001c0001t0004g0147a0001c0001t0012g0095a0001c0001t0036g0307others(5): Show | 8 | 380 | 0.0211 | -3 | c.*68 others(14): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3685 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126548894 | TAAA | T | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0230a0001c0001t0001g0274a0001c0001t0002g0156others(26): Show | 29 | 380 | 0.0763 | -3 | c.148 others(22): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 16/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126549073 | CAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0032a0001c0001t0001g0121a0001c0001t0001g0230others(33): Show | 36 | 380 | 0.0947 | -3 | c.148 others(20): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 16/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126558166 | CAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp2 others(87): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0012others(87): Show | 90 | 380 | 0.2368 | -3 | c.100 others(22): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 11/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126565394 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0037a0001c0001t0001g0064a0001c0001t0001g0066others(116): Show | 120 | 380 | 0.3158 | -3 | c.871 others(20): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 9/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126574770 | TCTA | T | intron_variant | MODIFIER | HG02027.hp2 HG02074.hp2 HG02129.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(9): Show | a0001c0001t0001g0361a0001c0004t0001g0114a0001c0004t0001g0154others(16): Show | 19 | 380 | 0.0500 | -3 | c.695 others(18): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 7/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126578638 | CAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01433.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0372a0001c0001t0002g0369a0001c0001t0003g0375others(5): Show | 8 | 380 | 0.0211 | -3 | c.518 others(20): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 5/17 | chr5 | TogoVar | ||||||
ALDH8A1_chr6_134912393_134955101 | 134920747 | GGGA | G | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01884.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0013a0001c0001t0002g0053a0001c0001t0002g0054others(16): Show | 23 | 370 | 0.0622 | -3 | c.101 others(22): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 6/6 | chr6 | TogoVar | ||||||
ALDH8A1_chr6_134912393_134955101 | 134927307 | AAAG | A | intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0010a0002c0003 | a0001c0010t0002a0002c0003t0002a0002c0003t0005 | a0001c0010t0002g0174a0002c0003t0002g0043a0002c0003t0002g0202others(2): Show | 6 | 370 | 0.0162 | -3 | c.101 others(22): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 6/6 | chr6 | TogoVar | ||||||
ALDH8A1_chr6_134912393_134955101 | 134929731 | AGAG | A | intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG02970.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0005 | a0002c0003t0002g0043a0002c0003t0002g0202a0002c0003t0005g0199 | 4 | 370 | 0.0108 | -3 | c.850 others(18): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
ALDH8A1_chr6_134912393_134955101 | 134938623 | TTTA | T | intron_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0006 | a0001c0001t0001g0007a0001c0001t0001g0040a0001c0001t0001g0177others(6): Show | 15 | 370 | 0.0405 | -3 | c.592 others(18): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
ALDH8A1_chr6_134912393_134955101 | 134939500 | CCTT | C | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0004t0004g0188others(2): Show | 5 | 370 | 0.0135 | -3 | c.443 others(16): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
ALDH9A1_chr1_165657216_165703562 | 165677857 | CAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG01934.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001a0002c0005t0010 | a0001c0001t0001g0063a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 13 | 332 | 0.0392 | -3 | c.930 others(20): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
ALDH9A1_chr1_165657216_165703562 | 165694504 | CTCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(102): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(84): Show | 105 | 332 | 0.3163 | -3 | c.327 others(18): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
ALDH9A1_chr1_165657216_165703562 | 165695508 | TTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(39): Show | 48 | 332 | 0.1446 | -3 | c.182 others(18): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
ALDOC_chr17_28568120_28581895 | 28576093 | TCTC | T | intron_variant | MODIFIER | HG01069.hp2 HG01361.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 352 | 0.0085 | -3 | c.-12 others(18): Show |
ALDOC | ENSG00000109107.14 | transcript | ENST00000226253.9 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38322527 | CATT | C | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02055.hp1 HG02109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0029 | a0001c0001t0006g0006a0001c0001t0006g0010a0001c0001t0029g0016 | 18 | 452 | 0.0398 | -3 | c.*13 others(14): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 1317 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ALG10B_chr12_38311774_38334721 | 38325513 | TGAA | T | 3_prime_UTR_variant | MODIFIER | HG02970.hp2 HG03041.hp1 HG03139.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0014a0001c0001t0079a0005c0008t0014 | a0001c0001t0014g0012a0001c0001t0079g0012a0005c0008t0014g0009 | 7 | 452 | 0.0155 | -3 | c.*43 others(14): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 4304 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ALG10B_chr12_38311774_38334721 | 38328536 | GTGT | G | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02145.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0007a0001c0001t0012g0014 | 9 | 452 | 0.0199 | -3 | c.*73 others(14): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 7327 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ALG10_chr12_34017496_34033302 | 34031870 | TATG | T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 10 | 332 | 0.0301 | -3 | c.*49 others(14): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 3569 | chr12 | TogoVar | ||||||
ALG11_chr13_52007398_52038600 | 52015934 | CAGA | C | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022a0001c0001t0007g0041 | 3 | 362 | 0.0083 | -3 | c.45- others(18): Show |
ALG11 | ENSG00000253710.5 | transcript | ENST00000521508.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALG11_chr13_52007398_52038600 | 52021179 | TAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0011others(41): Show | 153 | 362 | 0.4227 | -3 | c.275 others(20): Show |
ALG11 | ENSG00000253710.5 | transcript | ENST00000521508.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALG12_chr22_49895229_49923438 | 49897663 | CTTT | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0073a0002c0003t0004a0002c0003t0014others(6): Show | a0001c0001t0073g0159a0002c0003t0004g0007a0002c0003t0004g0012others(14): Show | 28 | 348 | 0.0805 | -3 | c.*61 others(14): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 2565 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49922840 | TGGG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0014a0001c0001t0011g0143 | 5 | 348 | 0.0144 | -3 | c.-46 others(14): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 4403 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49922858 | GGCT | G | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03139.hp2 HG03710.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0007others(3): Show | a0001c0001t0002g0002a0001c0002t0003g0071a0001c0002t0007g0077others(3): Show | 6 | 348 | 0.0172 | -3 | c.-46 others(14): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 4421 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49922867 | TGTG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0006others(34): Show | a0001c0001t0002g0002a0001c0002t0003g0009a0001c0002t0003g0021others(73): Show | 112 | 348 | 0.3218 | -3 | c.-46 others(14): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 4430 | chr22 | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111696982 | CTTT | C | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0047 | 1 | 191 | 0.0052 | -3 | c.384 others(22): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ALG13_chrX_111676170_111765649 | 111721754 | CAGG | C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 191 | 0.0052 | -3 | c.143 others(18): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ALG13_chrX_111676170_111765649 | 111744725 | TACC | T | disruptive_inframe_deletion | MODERATE | HG00558.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0095 | 1 | 191 | 0.0052 | -3 | c.279 others(12): Show |
p.Pro others(6): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 24/27 | 2845/4113 | 2796/3414 | 932/1137 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ALG13_chrX_111676170_111765649 | 111744768 | ACCT | A | conservative_inframe_deletion | MODERATE | HG00558.hp2 HG02965.hp1 HG02976.hp1 others(2): Show |
a0001a0003 | a0001c0007a0003c0004 | a0001c0007t0001a0003c0004t0001 | a0001c0007t0001g0101a0003c0004t0001g0010a0003c0004t0001g0067others(2): Show | 5 | 191 | 0.0262 | -3 | c.283 others(12): Show |
p.Pro others(6): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 24/27 | 2882/4113 | 2833/3414 | 945/1137 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ALG13_chrX_111676170_111765649 | 111759179 | CATT | C | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0047 | 1 | 191 | 0.0052 | -3 | c.314 others(20): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ALG14_chr1_94969405_95077951 | 95036419 | CTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0020others(10): Show | a0001c0001t0002g0230a0001c0001t0018g0121a0001c0001t0020g0077others(10): Show | 13 | 388 | 0.0335 | -3 | c.289 others(20): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95055828 | TAAA | T | intron_variant | MODIFIER | HG02602.hp2 HG02717.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0013others(3): Show | a0001c0001t0006g0043a0001c0001t0008g0098a0001c0001t0013g0053others(3): Show | 6 | 388 | 0.0155 | -3 | c.288 others(20): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95073832 | TTAA | T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01243.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0014others(33): Show | a0001c0001t0006g0001a0001c0001t0006g0035a0001c0001t0006g0038others(62): Show | 66 | 388 | 0.1701 | -3 | c.-93 others(12): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 882 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95076434 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(48): Show | a0001c0001t0001g0282a0001c0001t0001g0293a0001c0001t0001g0295others(92): Show | 95 | 388 | 0.2449 | -3 | c.-35 others(14): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3484 | chr1 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | CTTT | C | upstream_gene_variant | MODIFIER | HG03041.hp1 HG03098.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0134a0001c0001t0001g0136a0001c0003t0001g0032others(3): Show | 6 | 261 | 0.0230 | -3 | c.-17 others(14): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130095409 | TTTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(79): Show |
a0001a0002a0007 | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(44): Show | 82 | 261 | 0.3142 | -3 | c.425 others(18): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALG1L2_chr3_130076831_130103390 | 130098414 | GCTT | G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02976.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0018a0001c0006t0002g0074 | 3 | 261 | 0.0115 | -3 | c.*16 others(12): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 25 | chr3 | TogoVar | ||||||
ALG1_chr16_5066843_5092379 | 5080048 | TTTG | T | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0018a0001c0001t0014g0106 | 5 | 444 | 0.0113 | -3 | c.961 others(18): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ALG1_chr16_5066843_5092379 | 5086334 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG01981.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0030a0001c0002t0007 | a0001c0001t0007g0001a0001c0001t0007g0009a0001c0001t0007g0026others(3): Show | 11 | 444 | 0.0248 | -3 | c.*14 others(14): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 13/13 | 1469 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |