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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAST2_chr1_45798612_46041122 | 45888663 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 288 | 0.0035 | 34 | c.500 others(51): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAST3_chr19_18092778_18156687 | 18093344 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 NA20300.hp1 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0002a0001c0017t0022 | a0001c0003t0002g0176a0001c0017t0022g0062 | 2 | 296 | 0.0068 | 34 | c.-44 others(45): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 4433 | chr19 | TogoVar | ||||||
MAST3_chr19_18092778_18156687 | 18149704 | T | TCGGGGGG others(27): Show |
frameshift_variant | HIGH | HG01496.hp1 | a0000 | a0000c0024 | a0000c0024t0001 | a0000c0024t0001g0016 | 1 | 296 | 0.0034 | 34 | c.402 others(43): Show |
p.Pro others(6): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 28/28 | 4042/6020 | 4027/4044 | 1343/1347 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
MAST4_chr5_66591393_67174593 | 66687467 | C | CATGTATA others(27): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0015 | a0015c0024 | a0015c0024t0001 | a0015c0024t0001g0089 | 1 | 108 | 0.0093 | 34 | c.364 others(53): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 66837023 | C | CGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0019a0001c0002t0020 | a0001c0001t0008g0076a0001c0002t0019g0068a0001c0002t0020g0032 | 3 | 108 | 0.0278 | 34 | c.642 others(53): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 67069287 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0049 | 1 | 108 | 0.0093 | 34 | c.763 others(53): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 67081085 | T | TATATAAT others(27): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02027.hp2 HG02280.hp1 others(3): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0011 | a0001c0002t0001a0001c0002t0005a0001c0002t0020others(3): Show | a0001c0002t0001g0070a0001c0002t0005g0055a0001c0002t0020g0032others(3): Show | 6 | 108 | 0.0556 | 34 | c.764 others(51): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MATN2_chr8_97864064_98041724 | 97988189 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0238 | 1 | 318 | 0.0031 | 34 | c.108 others(53): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MATN2_chr8_97864064_98041724 | 98037386 | G | GTGTGTGT others(27): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0013 | a0013c0036 | a0013c0036t0002 | a0013c0036t0002g0111 | 1 | 318 | 0.0031 | 34 | c.*16 others(45): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 663 | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 98037392 | G | GTATATAT others(27): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 318 | 0.0031 | 34 | c.*16 others(45): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 669 | chr8 | TogoVar | ||||||
MBD2_chr18_54146606_54229669 | 54226998 | A | AATATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01074.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005a0001c0001t0008g0033 | 3 | 300 | 0.0100 | 34 | c.-24 others(45): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 2330 | chr18 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7035804 | A | ATATATAA others(27): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0013 | 1 | 262 | 0.0038 | 34 | c.*20 others(45): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1944 | chr19 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7035842 | A | ATATATAA others(27): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01256.hp1 HG01978.hp1 others(3): Show |
a0001a0004 | a0001c0012a0004c0004 | a0001c0012t0002a0004c0004t0002 | a0001c0012t0002g0023a0004c0004t0002g0007a0004c0004t0002g0033 | 6 | 262 | 0.0229 | 34 | c.*20 others(45): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1906 | chr19 | TogoVar | ||||||
MBD3L5_chr19_7025578_7038011 | 7035804 | A | ATATATAA others(27): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 HG02257.hp2 NA18522.hp2 |
a0004a0012 | a0004c0004a0012c0016 | a0004c0004t0001a0012c0016t0001 | a0004c0004t0001g0005a0012c0016t0001g0031 | 3 | 249 | 0.0121 | 34 | c.*29 others(45): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2794 | chr19 | TogoVar | ||||||
MBD3L5_chr19_7025578_7038011 | 7035842 | A | ATATATAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG01256.hp1 HG01978.hp1 others(6): Show |
a0004a0006 | a0004c0004a0006c0005 | a0004c0004t0001a0006c0005t0001 | a0004c0004t0001g0005a0006c0005t0001g0005a0006c0005t0001g0033 | 9 | 249 | 0.0361 | 34 | c.*29 others(45): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2832 | chr19 | TogoVar | ||||||
MBIP_chr14_36293564_36325637 | 36294279 | T | TAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0023 | 1 | 312 | 0.0032 | 34 | c.*48 others(45): Show |
MBIP | ENSG00000151332.20 | transcript | ENST00000416007.9 | protein_coding | 4284 | chr14 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97291900 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02717.hp1 NA18944.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0164a0001c0001t0001g0183a0001c0001t0002g0161others(1): Show | 4 | 254 | 0.0158 | 34 | c.174 others(53): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MBNL3_chrX_132364320_132494038 | 132396797 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01358.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0004g0016a0001c0001t0005g0085a0001c0001t0005g0086others(14): Show | 17 | 191 | 0.0890 | 34 | c.343 others(51): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396921 | T | TATTCATA others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0043 | a0001c0001t0041g0023a0001c0001t0043g0002 | 2 | 191 | 0.0105 | 34 | c.343 others(51): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
MBOAT7_chr19_54168415_54194580 | 54171050 | C | CATATATA others(27): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01928.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0306a0001c0002t0001g0061a0001c0002t0001g0069others(6): Show | 9 | 373 | 0.0241 | 34 | c.*29 others(45): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 2364 | chr19 | TogoVar | ||||||
MBOAT7_chr19_54168415_54194580 | 54171116 | C | CATATATG others(27): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0096 | 1 | 373 | 0.0027 | 34 | c.*29 others(45): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 2298 | chr19 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0043 | a0001c0001t0014g0209a0001c0001t0043g0257 | 2 | 340 | 0.0059 | 34 | c.*41 others(45): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51179482 | T | TTATATAT others(27): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp1 HG01943.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0290a0001c0001t0037g0292a0001c0001t0037g0301 | 3 | 340 | 0.0088 | 34 | c.*10 others(45): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1093 | chr17 | TogoVar | |||||
MBTD1_chr17_51172425_51265049 | 51179488 | A | ATATATAT others(27): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0254 | 1 | 340 | 0.0029 | 34 | c.*10 others(45): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1087 | chr17 | TogoVar | |||||
MBTPS2_chrX_21834617_21890423 | 21862933 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 308 | 0.0033 | 34 | c.671 others(51): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 428 | 0.0023 | 34 | c.-25 others(45): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | ||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 428 | 0.0023 | 34 | c.-25 others(45): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | ||||||
MCEE_chr2_71104687_71135229 | 71125211 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0055 | 2 | 418 | 0.0048 | 34 | c.41- others(47): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183269230 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0167 | 1 | 176 | 0.0057 | 34 | c.186 others(53): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 15/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(27): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0004 | a0004c0004t0016 | a0004c0004t0016g0133 | 1 | 176 | 0.0057 | 34 | c.130 others(53): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(27): Show |
intron_variant | MODIFIER | HG04115.hp1 HG04184.hp1 NA19240.hp2 |
a0001a0009a0018 | a0001c0001a0009c0032a0018c0019 | a0001c0001t0001a0009c0032t0011a0018c0019t0001 | a0001c0001t0001g0076a0009c0032t0011g0152a0018c0019t0001g0032 | 3 | 176 | 0.0171 | 34 | c.130 others(53): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(27): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0127 | 1 | 176 | 0.0057 | 34 | c.130 others(53): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(27): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0088 | 1 | 176 | 0.0057 | 34 | c.130 others(53): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 112980628 | G | GCCGCCTT others(27): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01109.hp1 others(32): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(32): Show | 35 | 116 | 0.3017 | 34 | c.79+ others(51): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 112980636 | C | CCCCTTTC others(27): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0020 | 1 | 116 | 0.0086 | 34 | c.79+ others(51): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113040412 | C | CTGTGTGT others(27): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 116 | 0.0086 | 34 | c.279 others(51): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113047876 | G | GCCTCCGC others(27): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 116 | 0.0086 | 34 | c.369 others(51): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113047881 | C | CGCTGACG others(27): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(56): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0022a0001c0001t0001g0032others(56): Show | 59 | 116 | 0.5086 | 34 | c.369 others(51): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAAA others(27): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 414 | 0.0024 | 34 | c.-41 others(45): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | ||||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAGA others(27): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 414 | 0.0048 | 34 | c.-41 others(45): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | ||||||
MCOLN1_chr19_7517624_7539009 | 7528364 | T | TCCGCTGA others(27): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 414 | 0.0024 | 34 | c.877 others(49): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MCOLN2_chr1_84920583_85002113 | 84922438 | G | GTGTGTAT others(27): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG03225.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0154a0004c0004t0001g0040 | 2 | 350 | 0.0057 | 34 | c.*42 others(45): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3144 | chr1 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6505275 | T | TACATATA others(27): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02451.hp1 HG02818.hp2 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(4): Show | a0001c0001t0001g0154a0001c0001t0005g0008a0002c0002t0001g0195others(4): Show | 7 | 262 | 0.0267 | 34 | c.221 others(53): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCTP1_chr5_94698690_95290094 | 94796615 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0032a0001c0003t0002g0022 | 2 | 98 | 0.0204 | 34 | c.255 others(53): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 18/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94947555 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0007 | 1 | 98 | 0.0102 | 34 | c.982 others(51): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94947577 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0005 | a0002c0005t0028 | a0002c0005t0028g0056 | 1 | 98 | 0.0102 | 34 | c.982 others(51): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94243733 | G | GTATATAC others(27): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 276 | 0.0036 | 34 | c.-66 others(53): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94244977 | T | TACATATG others(27): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03209.hp1 |
a0001a0004 | a0001c0013a0004c0008 | a0001c0013t0037a0004c0008t0022 | a0001c0013t0037g0224a0004c0008t0022g0053 | 2 | 276 | 0.0073 | 34 | c.-66 others(53): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94303064 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 276 | 0.0036 | 34 | c.465 others(51): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94464240 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0002 | a0002c0007 | a0002c0007t0016 | a0002c0007t0016g0059a0002c0007t0016g0121 | 2 | 276 | 0.0073 | 34 | c.236 others(53): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |