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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(525): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0092 | 3 | 402 | 0.0075 | 532 | c.80- others(547): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(525): Show |
intron_variant | MODIFIER | NA18969.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134a0001c0001t0001g0135 | 2 | 402 | 0.0050 | 532 | c.80- others(547): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(525): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 402 | 0.0025 | 532 | c.80- others(547): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(525): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 402 | 0.0025 | 532 | c.80- others(547): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(525): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 402 | 0.0025 | 532 | c.80- others(547): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(525): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 402 | 0.0025 | 532 | c.80- others(547): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CXorf51A_chrX_146809106_146819744 | 146812300 | C | CATATATA others(525): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 264 | 0.0076 | 532 | c.*19 others(543): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1805 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812300 | C | CATATATA others(525): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 272 | 0.0074 | 532 | c.*19 others(543): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1890 | chrX | TogoVar | ||||||
DAP3_chr1_155684091_155744010 | 155700906 | T | TCTGGGAG others(525): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 288 | 0.0035 | 532 | c.-7- others(547): Show |
DAP3 | ENSG00000132676.16 | transcript | ENST00000368336.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 478180 | A | AGAAGAGG others(525): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0081 | 1 | 88 | 0.0114 | 532 | c.158 others(549): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127396892 | A | ACTCCTAT others(525): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG02886.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0002a0001c0004t0002a0001c0007t0001others(4): Show | a0001c0001t0002g0128a0001c0004t0002g0135a0001c0007t0001g0074others(4): Show | 7 | 136 | 0.0515 | 532 | c.392 others(551): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127396892 | A | ACTCCTAT others(525): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02735.hp1 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0006a0001c0033a0001c0065others(1): Show | a0001c0006t0001a0001c0033t0007a0001c0065t0001others(1): Show | a0001c0006t0001g0064a0001c0033t0007g0087a0001c0065t0001g0046others(1): Show | 4 | 136 | 0.0294 | 532 | c.392 others(551): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127396892 | A | ACTCCTAT others(525): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02280.hp2 others(4): Show |
a0001a0003a0004 | a0001c0025a0003c0003a0003c0019others(1): Show | a0001c0025t0002a0003c0003t0003a0003c0003t0004others(2): Show | a0001c0025t0002g0025a0003c0003t0003g0014a0003c0003t0003g0037others(4): Show | 7 | 136 | 0.0515 | 532 | c.392 others(551): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127396892 | A | ACTCCTAT others(525): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01175.hp2 HG01884.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0007t0001others(5): Show | a0001c0001t0002g0013a0001c0001t0002g0077a0001c0002t0001g0047others(6): Show | 9 | 136 | 0.0662 | 532 | c.392 others(551): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127396892 | A | ACTCCTAT others(525): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02717.hp1 HG03486.hp1 |
a0001a0003a0005 | a0001c0004a0003c0003a0005c0014 | a0001c0004t0002a0003c0003t0004a0005c0014t0004 | a0001c0004t0002g0120a0003c0003t0004g0108a0005c0014t0004g0057 | 3 | 136 | 0.0221 | 532 | c.392 others(551): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127396892 | A | ACTCCTAT others(525): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0052 | 1 | 136 | 0.0074 | 532 | c.392 others(551): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127396892 | A | ACTCCTAT others(525): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03704.hp2 |
a0001a0002 | a0001c0005a0002c0018 | a0001c0005t0001a0002c0018t0001 | a0001c0005t0001g0045a0002c0018t0001g0070 | 2 | 136 | 0.0147 | 532 | c.392 others(551): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127396921 | C | CGGGCAGC others(525): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 136 | 0.0074 | 532 | c.392 others(551): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127396921 | C | CGGGCAGC others(525): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG03579.hp2 |
a0001a0002 | a0001c0054a0002c0055a0002c0059 | a0001c0054t0011a0002c0055t0001a0002c0059t0001 | a0001c0054t0011g0024a0002c0055t0001g0098a0002c0059t0001g0104 | 3 | 136 | 0.0221 | 532 | c.392 others(551): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(525): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG00738.hp2 others(18): Show |
a0001 | a0001c0003a0001c0005a0001c0007others(5): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0009others(12): Show | a0001c0003t0002g0154a0001c0003t0005g0047a0001c0003t0009g0145others(18): Show | 21 | 250 | 0.0840 | 532 | c.188 others(551): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(525): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01071.hp2 others(15): Show |
a0001 | a0001c0003a0001c0004a0001c0010others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0004t0001others(9): Show | a0001c0003t0001g0100a0001c0003t0002g0061a0001c0004t0001g0032others(15): Show | 18 | 250 | 0.0720 | 532 | c.188 others(551): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(525): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0004 | a0001c0004t0045 | a0001c0004t0045g0160 | 1 | 250 | 0.0040 | 532 | c.188 others(551): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(525): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03540.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0055a0001c0004t0003 | a0001c0001t0001g0170a0001c0001t0055g0165a0001c0004t0003g0195 | 3 | 250 | 0.0120 | 532 | c.188 others(551): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(525): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02895.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0050 | a0002c0002t0001g0197a0002c0002t0001g0202a0002c0002t0050g0199 | 3 | 250 | 0.0120 | 532 | c.188 others(551): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(525): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp2 others(45): Show |
a0001a0002a0003 | a0001c0024a0002c0002a0002c0006others(5): Show | a0001c0024t0001a0002c0002t0001a0002c0002t0004others(22): Show | a0001c0024t0001g0083a0002c0002t0001g0033a0002c0002t0001g0036others(45): Show | 48 | 250 | 0.1920 | 532 | c.188 others(551): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(525): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0158 | 1 | 250 | 0.0040 | 532 | c.188 others(551): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167542 | G | GTGGTGGT others(525): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG03453.hp2 |
a0001 | a0001c0003a0001c0004a0001c0020 | a0001c0003t0023a0001c0004t0003a0001c0020t0004 | a0001c0003t0023g0245a0001c0004t0003g0078a0001c0020t0004g0183 | 3 | 250 | 0.0120 | 532 | c.188 others(551): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GTGGGGGA others(525): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 | 1 | 308 | 0.0033 | 532 | c.157 others(547): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586376 | A | AGACCACA others(525): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0092 | 1 | 308 | 0.0033 | 532 | c.157 others(549): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113815986 | G | GGAGGTGC others(525): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 143 | 0.0070 | 532 | c.*48 others(543): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4562 | chr13 | TogoVar | ||||||
GNG4_chr1_235542685_235654784 | 235587634 | A | ATGTGTGT others(525): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0162 | 1 | 330 | 0.0030 | 532 | c.-10 others(549): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(525): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048 | 1 | 208 | 0.0048 | 532 | c.-97 others(549): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GRAMD4_chr22_46615386_46684785 | 46643155 | C | CCATCCAT others(525): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 328 | 0.0031 | 532 | c.283 others(549): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(525): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01168.hp2 HG02735.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0050 | a0001c0001t0005g0142a0001c0001t0005g0143a0001c0001t0005g0144others(4): Show | 7 | 328 | 0.0213 | 532 | c.283 others(549): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GRAMD4_chr22_46615386_46684785 | 46643163 | C | CCATCCAT others(525): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0213 | 1 | 328 | 0.0031 | 532 | c.283 others(549): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GUCY1A2_chr11_106669019_107023476 | 106709734 | G | GTTATATA others(525): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0248 | 1 | 256 | 0.0039 | 532 | c.183 others(551): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077361 | G | GATATATA others(525): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0174 | 1 | 344 | 0.0029 | 532 | c.25- others(547): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32323070 | T | TTATATAC others(525): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0070 | 1 | 242 | 0.0041 | 532 | c.174 others(551): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(525): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0012 | 1 | 260 | 0.0039 | 532 | c.125 others(549): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMF1_chr16_848634_975984 | 953411 | C | CCAGCCTC others(525): Show |
intron_variant | MODIFIER | HG03453.hp2 HG06807.hp2 |
a0011 | a0011c0038a0011c0039 | a0011c0038t0001a0011c0039t0002 | a0011c0038t0001g0245a0011c0039t0002g0264 | 2 | 294 | 0.0068 | 532 | c.503 others(547): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953545 | A | ACACCCAC others(525): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 294 | 0.0034 | 532 | c.503 others(547): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364818 | C | CCACACTT others(525): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03130.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0095a0001c0003t0006g0097 | 2 | 290 | 0.0069 | 532 | c.129 others(549): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LUC7L_chr16_183990_234449 | 187190 | G | GGAGGAAC others(525): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 350 | 0.0029 | 532 | c.*20 others(543): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1799 | chr16 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248742530 | C | CCGGGGAG others(525): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0080 | 1 | 374 | 0.0027 | 532 | c.475 others(549): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(525): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0027 | 1 | 288 | 0.0035 | 532 | c.-32 others(543): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77118010 | T | TGGGATGG others(525): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 396 | 0.0025 | 532 | c.-25 others(551): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
MCM4_chr8_47955941_47983160 | 47981073 | C | CGGCCTCC others(525): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 314 | 0.0032 | 532 | c.*42 others(543): Show |
MCM4 | ENSG00000104738.19 | transcript | ENST00000649973.1 | protein_coding | 2914 | chr8 | TogoVar | ||||||
MCM4_chr8_47955941_47983160 | 47981073 | C | CGGCCTCC others(525): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 314 | 0.0032 | 532 | c.*42 others(543): Show |
MCM4 | ENSG00000104738.19 | transcript | ENST00000649973.1 | protein_coding | 2914 | chr8 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237545067 | T | TGGTGAGT others(525): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0116 | 1 | 286 | 0.0035 | 532 | c.154 others(551): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(525): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 364 | 0.0028 | 532 | c.394 others(547): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |