view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBD3L2_chr19_7044321_7056735 | 7054014 | A | AATAATTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00642.hp2 others(73): Show |
a0001 | a0001c0001a0001c0008a0001c0011 | a0001c0001t0002a0001c0001t0006a0001c0008t0002others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0021 others(7): Show |
76 | 258 | 0.2946 | 9 | c.*23 others(20): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 2280 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7054014 | A | AATAATTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(88): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0015a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0035 others(8): Show |
91 | 288 | 0.3160 | 9 | c.*23 others(20): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2192 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7062161 | A | ATATATAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01099.hp2 others(18): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0015t0001 | a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0015t0001g0029 |
21 | 288 | 0.0729 | 9 | c.-35 others(20): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3486 | chr19 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148264316 | A | AGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01175.hp2 HG01243.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0006 a0001c0001t0002g0095 a0001c0001t0002g0120 others(10): Show |
13 | 188 | 0.0692 | 9 | c.-68 others(30): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148296864 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01106.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 others(25): Show |
28 | 188 | 0.1489 | 9 | c.-67 others(30): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBLAC1_chr7_100121967_100133495 | 100127158 | C | CGGGGGCC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01081.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 18 | 390 | 0.0462 | 9 | c.-29 others(23): Show |
MBLAC1 | ENSG00000214309.5 | transcript | ENST00000398075.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MBNL1_chr3_152263929_152470780 | 152325087 | G | GCCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00735.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0115 a0001c0001t0001g0145 others(21): Show |
24 | 338 | 0.0710 | 9 | c.174 others(28): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97218440 | C | CAAAACAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01175.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 others(10): Show |
13 | 254 | 0.0512 | 9 | c.-46 others(20): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3892 | chr13 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97218440 | C | CAAACAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01123.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 others(9): Show |
12 | 254 | 0.0472 | 9 | c.-46 others(20): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3892 | chr13 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97374063 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01243.hp1 HG01256.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0079 others(12): Show |
15 | 254 | 0.0591 | 9 | c.104 others(28): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132438197 | C | CAGGCTAT others(2): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0188 | 1 | 191 | 0.0052 | 9 | c.177 others(26): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 2/8 | chrX | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20168501 | G | GGAGAGGA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00639.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0014 a0001c0001t0001g0096 a0001c0001t0001g0116 others(37): Show |
40 | 336 | 0.1191 | 9 | c.100 others(28): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54193005 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01516.hp1 HG01884.hp2 others(30): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 others(29): Show |
33 | 373 | 0.0885 | 9 | c.-36 others(20): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 3426 | chr19 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77025705 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0064 others(76): Show |
80 | 396 | 0.2020 | 9 | c.140 others(26): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77084431 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02280.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0145 a0001c0001t0002g0260 a0001c0002t0001g0162 others(3): Show |
6 | 396 | 0.0152 | 9 | c.52- others(26): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77098168 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01123.hp1 others(14): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0262 a0001c0001t0003g0074 a0001c0001t0003g0186 others(14): Show |
17 | 396 | 0.0429 | 9 | c.51+ others(24): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
MC2R_chr18_13877044_13920536 | 13908706 | T | TTTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(33): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0028others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0018 others(21): Show |
36 | 416 | 0.0865 | 9 | c.-12 others(28): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
MC2R_chr18_13877044_13920536 | 13919733 | T | TGGCGTGC others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0032a0001c0001t0091others(2): Show | a0001c0001t0018g0231 a0001c0001t0032g0014 a0001c0001t0091g0084 others(2): Show |
7 | 416 | 0.0168 | 9 | c.-43 others(20): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 4198 | chr18 | TogoVar | |||||||
MC5R_chr18_13819149_13832323 | 13822490 | T | TGCTTGCA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(74): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0005 | a0002c0003t0003g0004 a0002c0003t0003g0012 a0002c0003t0003g0017 others(3): Show |
77 | 432 | 0.1782 | 9 | c.-18 others(20): Show |
MC5R | ENSG00000176136.6 | transcript | ENST00000589410.2 | protein_coding | 1658 | chr18 | TogoVar | |||||||
MC5R_chr18_13819149_13832323 | 13823328 | A | ACCCAACG others(2): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG01169.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0010t0004others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(6): Show |
37 | 432 | 0.0857 | 9 | c.-98 others(18): Show |
MC5R | ENSG00000176136.6 | transcript | ENST00000589410.2 | protein_coding | 820 | chr18 | TogoVar | |||||||
MCCC1_chr3_183010218_183104496 | 183033890 | A | AATGTAAC others(2): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02922.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 |
3 | 344 | 0.0087 | 9 | c.168 others(25): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 14/18 | chr3 | TogoVar | |||||||
MCCC1_chr3_183010218_183104496 | 183044906 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02895.hp1 HG02965.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0007 | a0001c0001t0001a0003c0005t0001a0003c0007t0001 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0003c0005t0001g0033 others(3): Show |
6 | 344 | 0.0174 | 9 | c.108 others(26): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 10/18 | chr3 | TogoVar | |||||||
MCCC2_chr5_71582340_71663706 | 71633127 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02922.hp1 NA18959.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0110 others(5): Show |
8 | 350 | 0.0229 | 9 | c.803 others(24): Show |
MCCC2 | ENSG00000131844.17 | transcript | ENST00000340941.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113176240 | A | AACAATAA others(2): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03209.hp1 |
a0001 | a0001c0010 | a0001c0010t0005a0001c0010t0028 | a0001c0010t0005g0036 a0001c0010t0028g0035 |
2 | 160 | 0.0125 | 9 | c.628 others(28): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113210407 | T | TGGAATAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(147): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0004a0001c0007others(54): Show | a0001c0003t0001a0001c0003t0009a0001c0003t0012others(98): Show | a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 others(147): Show |
150 | 160 | 0.9375 | 9 | c.628 others(28): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113220057 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04199.hp2 NA18947.hp1 others(2): Show |
a0002a0003a0004 | a0002c0002a0002c0057a0003c0006others(2): Show | a0002c0002t0001a0002c0057t0029a0003c0006t0002others(2): Show | a0002c0002t0001g0147 a0002c0057t0029g0118 a0003c0006t0002g0013 others(2): Show |
5 | 160 | 0.0313 | 9 | c.628 others(28): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113352687 | C | CCCCCTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(76): Show |
a0001a0002a0003others(4): Show | a0001c0007a0001c0008a0001c0010others(36): Show | a0001c0007t0006a0001c0007t0020a0001c0008t0004others(59): Show | a0001c0007t0006g0102 a0001c0007t0020g0103 a0001c0008t0004g0066 others(76): Show |
79 | 160 | 0.4938 | 9 | c.416 others(28): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 2/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113439350 | T | TGAGACAC others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01243.hp1 others(20): Show |
a0001a0003a0005 | a0001c0011a0003c0005a0003c0006others(10): Show | a0001c0011t0004a0003c0005t0001a0003c0005t0012others(17): Show | a0001c0011t0004g0054 a0003c0005t0001g0019 a0003c0005t0001g0020 others(20): Show |
23 | 160 | 0.1438 | 9 | c.170 others(28): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113456623 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01884.hp1 others(10): Show |
a0001a0003a0005 | a0001c0008a0001c0009a0001c0010others(8): Show | a0001c0008t0004a0001c0008t0044a0001c0009t0008others(10): Show | a0001c0008t0004g0066 a0001c0008t0044g0046 a0001c0009t0008g0110 others(10): Show |
13 | 160 | 0.0813 | 9 | c.170 others(28): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113462480 | A | AACAGTAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00733.hp2 others(40): Show |
a0001a0002a0008 | a0001c0008a0001c0009a0001c0010others(17): Show | a0001c0008t0004a0001c0008t0017a0001c0008t0031others(30): Show | a0001c0008t0004g0066 a0001c0008t0017g0050 a0001c0008t0031g0034 others(40): Show |
43 | 160 | 0.2688 | 9 | c.170 others(28): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
MCEMP1_chr19_7672090_7684829 | 7674859 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(10): Show |
24 | 448 | 0.0536 | 9 | c.-22 others(20): Show |
MCEMP1 | ENSG00000183019.8 | transcript | ENST00000333598.8 | protein_coding | 2230 | chr19 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183257958 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 HG02647.hp2 others(4): Show |
a0001a0002a0011others(4): Show | a0001c0001a0002c0002a0011c0011others(4): Show | a0001c0001t0005a0002c0002t0001a0011c0011t0001others(4): Show | a0001c0001t0005g0172 a0002c0002t0001g0056 a0011c0011t0001g0088 others(4): Show |
7 | 176 | 0.0398 | 9 | c.186 others(30): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 15/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183277353 | A | AAAAGCAG others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG02647.hp1 others(5): Show |
a0012a0013a0023others(1): Show | a0012c0013a0013c0012a0023c0027others(1): Show | a0012c0013t0002a0012c0013t0026a0013c0012t0001others(3): Show | a0012c0013t0002g0121 a0012c0013t0002g0155 a0012c0013t0026g0174 others(5): Show |
8 | 176 | 0.0455 | 9 | c.177 others(26): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 14/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183301793 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01109.hp1 others(17): Show |
a0004a0009a0010others(4): Show | a0004c0004a0009c0010a0009c0032others(5): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(11): Show | a0004c0004t0001g0060 a0004c0004t0001g0072 a0004c0004t0001g0135 others(17): Show |
20 | 176 | 0.1136 | 9 | c.111 others(28): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 10/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183332373 | A | AATTAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02615.hp1 others(8): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0004c0004others(7): Show | a0001c0001t0002a0002c0002t0001a0004c0004t0002others(8): Show | a0001c0001t0002g0146 a0002c0002t0001g0020 a0004c0004t0002g0013 others(8): Show |
11 | 176 | 0.0625 | 9 | c.486 others(26): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183382051 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18522.hp2 NA21309.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0002c0002t0001a0004c0004t0005 | a0001c0001t0002g0146 a0002c0002t0001g0009 a0004c0004t0005g0168 |
3 | 176 | 0.0171 | 9 | c.161 others(26): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183402451 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01257.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0023a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(7): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0095 others(15): Show |
18 | 176 | 0.1023 | 9 | c.77- others(26): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
MCF2_chrX_139576770_139713167 | 139658667 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 249 | 0.0040 | 9 | c.-44 others(26): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 1/28 | chrX | TogoVar | |||||||
MCF2_chrX_139576770_139713167 | 139709451 | T | TATACATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0016 others(115): Show |
118 | 249 | 0.4739 | 9 | c.-13 others(20): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 1285 | chrX | TogoVar | |||||||
MCM3_chr6_52259015_52289742 | 52267096 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0005 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(23): Show |
53 | 430 | 0.1233 | 9 | c.207 others(26): Show |
MCM3 | ENSG00000112118.20 | transcript | ENST00000596288.7 | protein_coding | 14/16 | chr6 | TogoVar | |||||||
MCM5_chr22_35395140_35430431 | 35395239 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01081.hp1 others(19): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0003a0001c0004t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 others(19): Show |
22 | 404 | 0.0545 | 9 | c.-49 others(20): Show |
MCM5 | ENSG00000100297.16 | transcript | ENST00000216122.9 | protein_coding | 4900 | chr22 | TogoVar | |||||||
MCM8_chr20_5945652_6003977 | 5989120 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00621.hp2 others(73): Show |
a0002a0003a0007others(3): Show | a0002c0002a0003c0003a0007c0013others(3): Show | a0002c0002t0005a0002c0002t0006a0002c0002t0008others(43): Show | a0002c0002t0005g0016 a0002c0002t0005g0203 a0002c0002t0005g0218 others(69): Show |
76 | 366 | 0.2077 | 9 | c.224 others(28): Show |
MCM8 | ENSG00000125885.13 | transcript | ENST00000610722.4 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MCM9_chr6_118808455_118940159 | 118933964 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(101): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0018a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(95): Show |
104 | 348 | 0.2989 | 9 | c.-15 others(26): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
MCMDC2_chr8_66865771_66927048 | 66867551 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG03453.hp2 HG03516.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0022 a0001c0001t0002g0025 others(7): Show |
11 | 202 | 0.0545 | 9 | c.-33 others(20): Show |
MCMDC2 | ENSG00000178460.18 | transcript | ENST00000422365.7 | protein_coding | 3219 | chr8 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6415295 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02486.hp2 others(7): Show |
a0008a0009a0010others(3): Show | a0008c0052a0008c0055a0009c0070others(5): Show | a0008c0052t0064a0008c0055t0042a0009c0070t0051others(7): Show | a0008c0052t0064g0231 a0008c0055t0042g0233 a0009c0070t0051g0238 others(7): Show |
10 | 262 | 0.0382 | 9 | c.233 others(24): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCRIP1_chr17_81817361_81838291 | 81831173 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01891.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(7): Show |
13 | 366 | 0.0355 | 9 | c.-49 others(26): Show |
MCRIP1 | ENSG00000225663.8 | transcript | ENST00000455127.7 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
MCRIP2_chr16_636828_653474 | 637257 | T | TGCGGCAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(187): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(42): Show |
190 | 420 | 0.4524 | 9 | c.-47 others(20): Show |
MCRIP2 | ENSG00000172366.20 | transcript | ENST00000307650.9 | protein_coding | 4570 | chr16 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95142054 | A | ATTTCAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG02071.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0010a0001c0002t0001others(8): Show | a0001c0001t0003g0078 a0001c0001t0010g0057 a0001c0002t0001g0042 others(8): Show |
11 | 98 | 0.1122 | 9 | c.721 others(30): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94257569 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG01175.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0002g0207 a0001c0001t0006g0200 a0001c0002t0001g0125 others(3): Show |
6 | 276 | 0.0217 | 9 | c.-66 others(28): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94267869 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0037 a0001c0001t0001g0086 a0001c0001t0001g0099 others(81): Show |
84 | 276 | 0.3044 | 9 | c.-65 others(28): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |