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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INF2_chr14_104684618_104727535 | 104720513 | CTCGTGTG others(60): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG02257.hp2 HG02818.hp2 others(3): Show |
a0001a0020a0023 | a0001c0005a0020c0030a0023c0040 | a0001c0005t0023a0001c0005t0062a0020c0030t0078others(1): Show | a0001c0005t0023g0112a0001c0005t0023g0113a0001c0005t0023g0164others(3): Show | 6 | 380 | 0.0158 | -67 | c.*17 others(78): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 23/23 | 5175 | chr14 | TogoVar | |||||
IQSEC1_chr3_12892043_13078429 | 13031651 | CAGAGTCT others(60): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0010 | a0010c0028 | a0010c0028t0033 | a0010c0028t0033g0117 | 1 | 250 | 0.0040 | -67 | c.23+ others(84): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 1/13 | chr3 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6037134 | TCAGAGGT others(60): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0152 | 1 | 233 | 0.0043 | -67 | c.217 others(86): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 18/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6037683 | CGGTAGCC others(60): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 233 | 0.0043 | -67 | c.217 others(86): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 18/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6038199 | TCACCGAG others(60): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 233 | 0.0043 | -67 | c.217 others(86): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 18/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6038416 | CTAACCCA others(60): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 233 | 0.0043 | -67 | c.217 others(86): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 18/20 | chr4 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15048726 | GGTCATGG others(60): Show |
G | intron_variant | MODIFIER | HG03492.hp2 HG03834.hp2 |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0024 | a0002c0004t0001g0089a0002c0004t0024g0059 | 2 | 146 | 0.0137 | -67 | c.726 others(84): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | chr1 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79795515 | GGGATCAC others(60): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0216a0001c0001t0001g0218a0001c0001t0001g0219others(7): Show | 10 | 312 | 0.0321 | -67 | c.-26 others(78): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2422 | chr18 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215093805 | ATATATTA others(60): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 260 | 0.0039 | -67 | c.357 others(84): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63404352 | GGGGGGAG others(60): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0017 | a0001c0017t0051 | a0001c0017t0051g0160 | 1 | 330 | 0.0030 | -67 | c.*22 others(78): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 17/17 | 2225 | chr20 | TogoVar | |||||
KCNQ3_chr8_132115861_132486095 | 132160621 | ACTTTCAA others(60): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0041a0001c0001t0047others(1): Show | a0001c0001t0027g0082a0001c0001t0027g0083a0001c0001t0041g0017others(2): Show | 5 | 176 | 0.0284 | -67 | c.126 others(86): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 9/14 | chr8 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135779186 | GTGGGACC others(60): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0008a0001c0001t0027a0001c0002t0005others(10): Show | a0001c0001t0008g0008a0001c0001t0027g0157a0001c0002t0005g0081others(11): Show | 14 | 272 | 0.0515 | -67 | c.273 others(83): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KHDRBS3_chr8_135452456_135652610 | 135511060 | TGTAATAA others(60): Show |
T | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 342 | 0.0029 | -67 | c.89- others(84): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168001580 | CGTGGCCT others(60): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(110): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0018others(12): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(107): Show | 113 | 375 | 0.3013 | -67 | c.-36 others(84): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245695735 | CACTCTCC others(60): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0074 | 1 | 160 | 0.0063 | -67 | c.582 others(86): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KLHL15_chrX_23978720_24032186 | 23979580 | AAAAAAAA others(60): Show |
A | downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0146 | 1 | 286 | 0.0035 | -67 | c.*82 others(78): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4139 | chrX | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 70018674 | ATCCAAAG others(60): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0081 | 1 | 182 | 0.0055 | -67 | c.498 others(86): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
KLK4_chr19_50901351_50916395 | 50906590 | CCCTGGGT others(60): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(88): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0003a0001c0002t0003a0001c0006t0003others(4): Show | a0001c0001t0003g0021a0001c0001t0003g0025a0001c0001t0003g0027others(25): Show | 91 | 414 | 0.2198 | -67 | c.*27 others(76): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 6/6 | 277 | chr19 | TogoVar | |||||
KRBOX4_chrX_46442297_46479639 | 46476761 | CTCTTTTT others(60): Show |
C | downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0100 | 1 | 318 | 0.0031 | -67 | c.*37 others(78): Show |
KRBOX4 | ENSG00000147121.16 | transcript | ENST00000344302.9 | protein_coding | 2123 | chrX | TogoVar | ||||||
KRT18_chr12_52944118_52957906 | 52954190 | TAAAAATT others(60): Show |
T | downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 406 | 0.0025 | -67 | c.*13 others(78): Show |
KRT18 | ENSG00000111057.11 | transcript | ENST00000388835.4 | protein_coding | 1285 | chr12 | TogoVar | ||||||
KRTAP16-1_chr17_41302700_41314309 | 41310330 | GAAGAAAG others(60): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0009 | a0009c0020 | a0009c0020t0001 | a0009c0020t0001g0000 | 1 | 421 | 0.0024 | -67 | c.-11 others(78): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1022 | chr17 | TogoVar | ||||||
KRTAP17-1_chr17_41309912_41320710 | 41310330 | GAAGAAAG others(60): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 413 | 0.0024 | -67 | c.*49 others(78): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4581 | chr17 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769432 | TCCCCCCC others(60): Show |
T | upstream_gene_variant | MODIFIER | HG02015.hp2 HG03491.hp2 HG03669.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 4 | 356 | 0.0112 | -67 | c.-50 others(78): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4915 | chr9 | TogoVar | ||||||
LHFPL6_chr13_39337892_39608193 | 39507490 | CAAATTGC others(60): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0003 | 1 | 242 | 0.0041 | -67 | c.385 others(86): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 2/3 | chr13 | TogoVar | ||||||
LIN54_chr4_82919603_83015823 | 82924052 | CTGAGGTC others(60): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02897.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0024 | a0001c0001t0002g0200a0001c0001t0002g0204a0001c0001t0002g0205others(6): Show | 9 | 304 | 0.0296 | -67 | c.*39 others(78): Show |
LIN54 | ENSG00000189308.11 | transcript | ENST00000340417.8 | protein_coding | 550 | chr4 | TogoVar | ||||||
LMAN2_chr5_177326567_177356668 | 177326869 | GAGAAAGA others(60): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 376 | 0.0027 | -67 | c.*51 others(78): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4697 | chr5 | TogoVar | ||||||
LMNB2_chr19_2423166_2461959 | 2446086 | GCCCCCAC others(60): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0187a0001c0002t0004g0188 | 2 | 356 | 0.0056 | -67 | c.265 others(84): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
LMTK2_chr7_98101862_98214638 | 98140130 | CTTTCTTT others(60): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00673.hp1 others(62): Show |
a0001a0014 | a0001c0001a0001c0010a0001c0029others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0060a0001c0001t0001g0111others(60): Show | 65 | 390 | 0.1667 | -67 | c.232 others(84): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LOC400499_chr16_11367015_11532247 | 11499122 | GGGGGGAA others(60): Show |
G | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0062 | a0001c0062t0004 | a0001c0062t0004g0255 | 1 | 310 | 0.0032 | -67 | c.124 others(86): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 10/66 | chr16 | TogoVar | ||||||
LOC400499_chr16_11367015_11532247 | 11499145 | GGGGGGAA others(60): Show |
G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247 | 1 | 310 | 0.0032 | -67 | c.124 others(86): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 10/66 | chr16 | TogoVar | ||||||
LPA_chr6_160526482_160669275 | 160653983 | TATATAAT others(60): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp1 HG03486.hp2 |
a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0006a0006c0005t0002g0007a0006c0005t0002g0008 | 3 | 148 | 0.0203 | -67 | c.50- others(82): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 1/38 | chr6 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188785468 | TTCCATCA others(60): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0003 | a0002c0003t0056 | a0002c0003t0056g0016 | 1 | 76 | 0.0132 | -67 | c.141 others(88): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
LTB4R_chr14_24306502_24323036 | 24314936 | GACAGATC others(60): Show |
G | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0025 | 1 | 428 | 0.0023 | -67 | c.-15 others(82): Show |
LTB4R | ENSG00000213903.9 | transcript | ENST00000345363.8 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248752610 | CACACATC others(60): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 374 | 0.0027 | -67 | c.-49 others(84): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1859035 | TGGAGCAG others(60): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0090a0001c0001t0001g0209a0001c0001t0001g0217others(60): Show | 63 | 264 | 0.2386 | -67 | c.199 others(88): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1916844 | CAGGCACG others(60): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 264 | 0.0038 | -67 | c.180 others(88): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1333995 | TCCCATGC others(60): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG03688.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026a0001c0002t0001g0033 | 2 | 388 | 0.0052 | -67 | c.765 others(84): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MALRD1_chr10_19043801_19739478 | 19171954 | TATATATC others(60): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01256.hp1 HG01884.hp1 others(42): Show |
a0001a0002a0004others(33): Show | a0001c0001a0001c0076a0001c0120others(38): Show | a0001c0001t0001a0001c0076t0002a0001c0120t0001others(38): Show | a0001c0001t0001g0005a0001c0076t0002g0075a0001c0120t0001g0142others(42): Show | 45 | 152 | 0.2961 | -67 | c.183 others(86): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MAP3K15_chrX_19355059_19520508 | 19421639 | AAGCTACC others(60): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02015.hp1 others(28): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0003others(11): Show | a0001c0001t0002g0042a0001c0001t0002g0071a0001c0001t0002g0085others(28): Show | 31 | 163 | 0.1902 | -67 | c.143 others(86): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 9/28 | chrX | TogoVar | ||||||
MAPK11_chr22_50258713_50275380 | 50273801 | ATGTTCCA others(60): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 428 | 0.0023 | -67 | c.-35 others(78): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 3422 | chr22 | TogoVar | ||||||
MARCO_chr2_118937194_118999660 | 118986581 | GGAAAGAA others(60): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02622.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120a0002c0002t0001g0125a0002c0002t0001g0132others(3): Show | 6 | 394 | 0.0152 | -67 | c.106 others(86): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119348676 | TGTATTTT others(60): Show |
T | upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 318 | 0.0031 | -67 | c.-22 others(78): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 1972 | chr11 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237542769 | GGGGACAG others(60): Show |
G | intron_variant | MODIFIER | HG02074.hp2 HG02451.hp1 HG02622.hp1 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0003 | a0003c0003t0001g0106a0003c0003t0001g0107a0003c0003t0001g0108others(9): Show | 12 | 286 | 0.0420 | -67 | c.153 others(84): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543232 | GGGCACAG others(60): Show |
G | intron_variant | MODIFIER | HG01071.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0201 | 2 | 286 | 0.0070 | -67 | c.153 others(84): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543613 | GGGGGACA others(60): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0031 | a0031c0028 | a0031c0028t0001 | a0031c0028t0001g0128 | 1 | 286 | 0.0035 | -67 | c.153 others(85): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543938 | TGGGGGGA others(60): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 286 | 0.0035 | -67 | c.153 others(86): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544720 | GGCACGGT others(60): Show |
G | intron_variant | MODIFIER | NA18941.hp1 NA18980.hp1 |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0010a0005c0004t0001g0012 | 2 | 286 | 0.0070 | -67 | c.154 others(86): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MPPED2_chr11_30405224_30591353 | 30449500 | AGGGTGTG others(60): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0162a0001c0001t0004g0009others(4): Show | 8 | 262 | 0.0305 | -67 | c.537 others(86): Show |
MPPED2 | ENSG00000066382.17 | transcript | ENST00000358117.10 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
MROH2A_chr2_233773330_233838418 | 233790584 | CCCTCCCC others(60): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA18522.hp1 |
a0010a0043 | a0010c0022a0043c0127 | a0010c0022t0001a0043c0127t0001 | a0010c0022t0001g0002a0043c0127t0001g0035 | 3 | 378 | 0.0079 | -67 | c.571 others(82): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRPL45_chr17_38292168_38328211 | 38313308 | AAAAATAT others(60): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0256 | 1 | 287 | 0.0035 | -67 | c.462 others(84): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |