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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EOGT_chr3_68970225_69018684 | 69009912 | AAACAAC | A | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0016a0001c0004t0012a0001c0004t0013 | a0001c0001t0016g0086a0001c0001t0016g0087a0001c0004t0012g0101others(1): Show | 4 | 444 | 0.0090 | -6 | c.-14 others(19): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
EOMES_chr3_27710953_27727323 | 27711284 | TTATATA | T | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02717.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0006 | a0002c0002t0001g0006a0002c0002t0004g0015a0002c0002t0006g0029 | 9 | 400 | 0.0225 | -6 | c.*57 others(17): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4668 | chr3 | TogoVar | ||||||
EOMES_chr3_27710953_27727323 | 27722866 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG01891.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0034others(6): Show | 23 | 400 | 0.0575 | -6 | c.-57 others(15): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 544 | chr3 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41110282 | ATTTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01496.hp1 others(10): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0011a0001c0002t0003a0001c0002t0014others(7): Show | a0001c0001t0011g0271a0001c0002t0003g0115a0001c0002t0014g0167others(10): Show | 13 | 300 | 0.0433 | -6 | c.95- others(21): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41126729 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(61): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0016a0001c0018others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(34): Show | a0001c0002t0001g0103a0001c0002t0003g0115a0001c0002t0004g0087others(61): Show | 64 | 300 | 0.2133 | -6 | c.906 others(21): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41167584 | GTATATA | G | intron_variant | MODIFIER | HG00558.hp2 HG02129.hp1 HG02165.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0021a0001c0023others(2): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0019others(4): Show | a0001c0001t0002g0211a0001c0001t0002g0215a0001c0001t0002g0219others(9): Show | 12 | 300 | 0.0400 | -6 | c.387 others(23): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41167820 | TTTTTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(37): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0006a0001c0002t0009a0001c0002t0010others(22): Show | a0001c0002t0006g0063a0001c0002t0006g0082a0001c0002t0006g0084others(37): Show | 40 | 300 | 0.1333 | -6 | c.387 others(23): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41179876 | CCACTCA | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG02056.hp1 HG03239.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0020a0001c0002t0029a0001c0002t0053others(3): Show | a0001c0002t0020g0054a0001c0002t0020g0099a0001c0002t0020g0117others(6): Show | 9 | 300 | 0.0300 | -6 | c.*92 others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 924 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
EP300_chr22_41087592_41185077 | 41179880 | TCACACA | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01070.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0008a0001c0001t0040a0001c0002t0032others(2): Show | a0001c0001t0008g0218a0001c0001t0008g0238a0001c0001t0008g0241others(12): Show | 15 | 300 | 0.0500 | -6 | c.*96 others(15): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 962 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
EP400_chr12_131944942_132085460 | 131948409 | CTTTCTT | C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
a0004a0006a0017 | a0004c0009a0004c0023a0006c0010others(2): Show | a0004c0009t0004a0004c0023t0001a0006c0010t0004others(2): Show | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | 208 | 0.0481 | -6 | c.-16 others(17): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1532 | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131966562 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(27): Show |
a0001a0003a0004others(5): Show | a0001c0006a0001c0046a0001c0057others(10): Show | a0001c0006t0001a0001c0006t0005a0001c0046t0001others(12): Show | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(27): Show | 30 | 208 | 0.1442 | -6 | c.133 others(25): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EPAS1_chr2_46292407_46391697 | 46302118 | CTGTGTG | C | intron_variant | MODIFIER | HG02647.hp1 HG03491.hp1 HG03942.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(4): Show | 7 | 326 | 0.0215 | -6 | c.26+ others(21): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPAS1_chr2_46292407_46391697 | 46332772 | TCCTCTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(150): Show | 156 | 326 | 0.4785 | -6 | c.27- others(23): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPAS1_chr2_46292407_46391697 | 46362971 | GGTGGTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00642.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0015a0001c0001t0001g0075a0001c0001t0001g0076others(43): Show | 46 | 326 | 0.1411 | -6 | c.779 others(23): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36188581 | AACACAC | A | intron_variant | MODIFIER | HG01081.hp1 HG01169.hp2 HG01346.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0172a0001c0001t0002g0007others(4): Show | 12 | 236 | 0.0509 | -6 | c.102 others(23): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36188637 | CACACAG | C | intron_variant | MODIFIER | HG01256.hp1 HG02723.hp2 HG04199.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0080a0001c0001t0002g0196a0001c0001t0005g0037others(1): Show | 4 | 236 | 0.0170 | -6 | c.102 others(23): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36222906 | ATATTTT | A | intron_variant | MODIFIER | HG02809.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0090 | 2 | 236 | 0.0085 | -6 | c.263 others(23): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36232816 | CCTCTCT | C | downstream_gene_variant | MODIFIER | HG02630.hp2 HG03225.hp1 NA18522.hp1 |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0025a0001c0006t0007g0026a0001c0006t0007g0027 | 3 | 236 | 0.0127 | -6 | c.*34 others(17): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 18 | chr20 | TogoVar | ||||||
EPB41L1_chr20_36149740_36237799 | 36237750 | GTATTAT | G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01361.hp2 HG01515.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0079a0001c0001t0001g0080others(23): Show | 27 | 236 | 0.1144 | -6 | c.*84 others(17): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4952 | chr20 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130848197 | TCTCACA | T | intron_variant | MODIFIER | HG02683.hp1 HG03041.hp2 HG04184.hp1 others(1): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0018 | a0001c0001t0001a0001c0002t0002a0012c0018t0001 | a0001c0001t0001g0352a0001c0002t0002g0081a0001c0002t0002g0090others(1): Show | 4 | 356 | 0.0112 | -6 | c.*6- others(21): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 19/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130848199 | TCACACA | T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0006a0001c0003t0014 | a0001c0001t0008g0102a0001c0001t0008g0103a0001c0003t0006g0020others(1): Show | 4 | 356 | 0.0112 | -6 | c.*6- others(21): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 19/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130860520 | ATTTTAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00609.hp1 others(42): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0007t0003 | a0001c0001t0002g0328a0001c0001t0003g0005a0001c0001t0003g0108others(42): Show | 45 | 356 | 0.1264 | -6 | c.291 others(25): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 18/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130867937 | GACACAC | G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337a0001c0001t0001g0338a0001c0001t0001g0339 | 3 | 356 | 0.0084 | -6 | c.260 others(23): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 15/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130867968 | ACACACT | A | intron_variant | MODIFIER | HG00621.hp2 NA18993.hp2 NA19007.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124a0001c0001t0002g0125a0001c0001t0002g0126others(1): Show | 4 | 356 | 0.0112 | -6 | c.260 others(23): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 15/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130892403 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00741.hp1 others(46): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0011a0003c0004t0001 | a0001c0001t0001g0033a0001c0001t0001g0086a0001c0001t0001g0250others(46): Show | 49 | 356 | 0.1376 | -6 | c.148 others(25): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 10/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130929892 | CACACAT | C | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01515.hp1 others(39): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0033a0001c0001t0001g0052a0001c0001t0001g0086others(39): Show | 42 | 356 | 0.1180 | -6 | c.706 others(23): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130944166 | CACACAT | C | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01071.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0009a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0009g0001a0001c0002t0001g0247a0001c0002t0002g0248others(16): Show | 19 | 356 | 0.0534 | -6 | c.705 others(25): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130954040 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG00738.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0023others(34): Show | 37 | 356 | 0.1039 | -6 | c.705 others(23): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 131016477 | AACACAC | A | intron_variant | MODIFIER | HG00597.hp2 HG02074.hp2 HG02257.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0109others(10): Show | 13 | 356 | 0.0365 | -6 | c.-15 others(25): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5452782 | TTGTGTG | T | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(88): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(88): Show | 91 | 222 | 0.4099 | -6 | c.382 others(23): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5485935 | GTAAATT | G | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
a0001a0003a0004 | a0001c0002a0003c0010a0004c0006 | a0001c0002t0001a0001c0002t0002a0003c0010t0007others(2): Show | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | 222 | 0.0405 | -6 | c.183 others(23): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5529928 | ATGTGTG | A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG02622.hp2 others(3): Show |
a0001a0007a0010 | a0001c0001a0001c0002a0007c0011others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0010others(2): Show | a0001c0001t0001g0051a0001c0002t0002g0035a0001c0002t0002g0049others(3): Show | 6 | 222 | 0.0270 | -6 | c.-12 others(25): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5539245 | GCTTTCT | G | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(4): Show | 7 | 222 | 0.0315 | -6 | c.-12 others(23): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5545873 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG00735.hp2 others(49): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0038others(49): Show | 52 | 222 | 0.2342 | -6 | c.-19 others(17): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1877 | chr18 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112296990 | TACACAC | T | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02723.hp1 others(1): Show |
a0004 | a0004c0010a0004c0014 | a0004c0010t0011a0004c0014t0011 | a0004c0010t0011g0071a0004c0010t0011g0072a0004c0014t0011g0069others(1): Show | 4 | 228 | 0.0175 | -6 | c.204 others(25): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 2/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112314505 | TAAAAAA | T | intron_variant | MODIFIER | HG01358.hp2 HG02055.hp2 HG02630.hp2 others(3): Show |
a0002a0003a0008 | a0002c0008a0003c0005a0008c0009 | a0002c0008t0001a0002c0008t0021a0003c0005t0009others(2): Show | a0002c0008t0001g0214a0002c0008t0021g0078a0003c0005t0009g0026others(3): Show | 6 | 228 | 0.0263 | -6 | c.100 others(23): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112343705 | TGAGTAG | T | intron_variant | MODIFIER | HG02055.hp1 HG02922.hp2 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0018a0001c0001t0040a0002c0007t0002others(1): Show | a0001c0001t0018g0021a0001c0001t0018g0051a0001c0001t0040g0137others(2): Show | 5 | 228 | 0.0219 | -6 | c.100 others(25): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112345778 | TATACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01175.hp1 others(8): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0002a0005c0006others(3): Show | a0001c0001t0022a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0022g0209a0001c0002t0001g0110a0001c0002t0001g0143others(8): Show | 11 | 228 | 0.0483 | -6 | c.100 others(25): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112345780 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01993.hp1 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0021a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0002g0001a0001c0001t0002g0041a0001c0001t0005g0199others(9): Show | 13 | 228 | 0.0570 | -6 | c.100 others(25): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112380792 | TACACAC | T | intron_variant | MODIFIER | NA18995.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0038a0001c0002t0003 | a0001c0001t0038g0169a0001c0002t0003g0175 | 2 | 228 | 0.0088 | -6 | c.99+ others(23): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112408713 | AAAAAAG | A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00738.hp1 others(26): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0003c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0158a0001c0001t0001g0164a0001c0001t0002g0001others(25): Show | 29 | 228 | 0.1272 | -6 | c.99+ others(23): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109175468 | AACACAC | A | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp1 HG01099.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0010others(4): Show | a0001c0002t0012a0001c0002t0022a0001c0004t0001others(14): Show | a0001c0002t0012g0135a0001c0002t0012g0208a0001c0002t0012g0209others(26): Show | 29 | 318 | 0.0912 | -6 | c.263 others(23): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109175508 | CACACAG | C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02055.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0028a0001c0002t0028a0001c0002t0050others(1): Show | a0001c0001t0028g0035a0001c0002t0028g0081a0001c0002t0050g0134others(1): Show | 4 | 318 | 0.0126 | -6 | c.263 others(23): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109176044 | ACACACG | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00621.hp1 others(43): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0040a0001c0001t0001g0084a0001c0001t0001g0085others(43): Show | 46 | 318 | 0.1447 | -6 | c.263 others(23): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109181163 | TTTATTA | T | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0012t0020 | a0001c0001t0001g0070a0001c0001t0002g0141a0001c0001t0002g0157others(3): Show | 6 | 318 | 0.0189 | -6 | c.248 others(25): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 24/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109218126 | CTTTTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG02280.hp1 HG02572.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(7): Show | a0001c0001t0001g0121a0001c0001t0002g0149a0001c0001t0002g0171others(8): Show | 11 | 318 | 0.0346 | -6 | c.141 others(23): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 15/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109220792 | CGTGTGT | C | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01891.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(6): Show | a0001c0001t0001g0121a0001c0001t0002g0141a0001c0001t0002g0171others(11): Show | 14 | 318 | 0.0440 | -6 | c.141 others(25): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 15/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109244434 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(181): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0042others(179): Show | 184 | 318 | 0.5786 | -6 | c.134 others(23): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 14/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109276154 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp2 HG03710.hp1 HG04115.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0066a0001c0002t0004a0002c0003t0048 | a0001c0001t0066g0250a0001c0002t0004g0049a0001c0002t0004g0067others(1): Show | 4 | 318 | 0.0126 | -6 | c.411 others(23): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109294672 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(155): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0043others(155): Show | 158 | 318 | 0.4969 | -6 | c.307 others(25): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 1/25 | chr9 | TogoVar |