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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MATN2_chr8_97864064_98041724 | 97980332 | ATAGCAGC others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(34): Show |
a0001 | a0001c0001a0001c0027 | a0001c0001t0002a0001c0001t0004a0001c0027t0002 | a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0051 others(34): Show |
37 | 318 | 0.1164 | -9 | c.108 others(28): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | chr8 | TogoVar | |||||||
MATR3_chr5_139288740_139336677 | 139311750 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01243.hp1 HG01993.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 others(14): Show |
19 | 282 | 0.0674 | -9 | c.913 others(26): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MATR3_chr5_139288740_139336677 | 139319860 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01993.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0016 | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0161 others(3): Show |
6 | 282 | 0.0213 | -9 | c.160 others(26): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAVS_chr20_3841834_3881118 | 3852002 | TTTTTTCC others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(241): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0027others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(116): Show | a0001c0001t0001g0058 a0001c0001t0001g0241 a0001c0001t0001g0242 others(234): Show |
244 | 420 | 0.5810 | -9 | c.-67 others(26): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
MAX_chr14_65070127_65107517 | 65089756 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG01496.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0050 a0001c0001t0002g0017 a0001c0001t0002g0033 others(6): Show |
20 | 382 | 0.0524 | -9 | c.171 others(26): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
MAZ_chr16_29801529_29816164 | 29810105 | GGCAGCGG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG02165.hp2 HG02602.hp1 HG02683.hp2 others(2): Show |
a0002a0003 | a0002c0009a0003c0005 | a0002c0009t0001a0003c0005t0001a0003c0005t0004others(1): Show | a0002c0009t0001g0014 a0003c0005t0001g0001 a0003c0005t0004g0001 others(1): Show |
5 | 282 | 0.0177 | -9 | c.131 others(18): Show |
p.Ala others(13): Show |
MAZ | ENSG00000103495.15 | transcript | ENST00000322945.11 | protein_coding | 5/5 | 1484/2540 | 1311/1434 | 437/477 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01192.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0003 | a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0035 others(8): Show |
12 | 298 | 0.0403 | -9 | c.212 others(28): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MB21D2_chr3_192791815_192922856 | 192908399 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01934.hp1 HG01943.hp1 others(18): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(18): Show |
21 | 298 | 0.0705 | -9 | c.211 others(26): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7053915 | TTATATAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 2 | 258 | 0.0078 | -9 | c.*22 others(20): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 2181 | chr19 | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7054051 | ATATAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(75): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0007t0001others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0014 others(21): Show |
78 | 258 | 0.3023 | -9 | c.*24 others(20): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 2317 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7054051 | ATATAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(88): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0004a0003c0003others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(6): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0011 others(17): Show |
91 | 288 | 0.3160 | -9 | c.*22 others(20): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2155 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7054496 | ACATATAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 NA18944.hp1 NA18980.hp1 |
a0005 | a0005c0000 | a0005c0000t0000 | a0005c0000t0000g0000 | 3 | 288 | 0.0104 | -9 | c.*18 others(20): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1710 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7062155 | TATTATAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(94): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0002a0009c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0035 others(10): Show |
97 | 288 | 0.3368 | -9 | c.-35 others(20): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3480 | chr19 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7035661 | ATTACATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01081.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0014a0005c0009 | a0001c0001t0002a0001c0014t0002a0005c0009t0001 | a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0014t0002g0023 others(1): Show |
11 | 262 | 0.0420 | -9 | c.*21 others(20): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2087 | chr19 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148079857 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01261.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0002g0008 a0001c0001t0002g0107 a0001c0001t0002g0108 others(8): Show |
11 | 188 | 0.0585 | -9 | c.-92 others(30): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148389248 | AAACATAT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00673.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0155 others(10): Show |
13 | 188 | 0.0692 | -9 | c.-55 others(30): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97287716 | CTTTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG01975.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0176 others(12): Show |
15 | 254 | 0.0591 | -9 | c.174 others(28): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132408092 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0153 others(2): Show |
5 | 191 | 0.0262 | -9 | c.178 others(26): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 2/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132492535 | TAAGAAGA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG03688.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0092 a0001c0001t0018g0099 |
2 | 191 | 0.0105 | -9 | c.-43 others(20): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3498 | chrX | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54168950 | TCCTTCCT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp2 NA18963.hp1 NA19066.hp1 |
a0001a0002a0014 | a0001c0002a0002c0004a0014c0025 | a0001c0002t0001a0002c0004t0001a0014c0025t0001 | a0001c0002t0001g0065 a0002c0004t0001g0060 a0014c0025t0001g0243 |
3 | 373 | 0.0080 | -9 | c.*50 others(20): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 4464 | chr19 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54169004 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00621.hp2 others(57): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0026a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0337 a0001c0001t0002g0088 a0001c0001t0002g0236 others(56): Show |
60 | 373 | 0.1609 | -9 | c.*50 others(20): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 4410 | chr19 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54169030 | TTTTCTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG01346.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0006t0001others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0130 a0001c0001t0001g0177 others(13): Show |
16 | 373 | 0.0429 | -9 | c.*50 others(20): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 4384 | chr19 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77093981 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02293.hp2 HG02717.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0002g0330 a0001c0001t0006g0329 a0001c0001t0011g0148 others(3): Show |
6 | 396 | 0.0152 | -9 | c.51+ others(26): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51179483 | TTTATATA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01123.hp2 HG03491.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 a0001c0001t0006g0070 a0001c0001t0006g0072 others(1): Show |
5 | 340 | 0.0147 | -9 | c.*10 others(20): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1084 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51210757 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00741.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0024 others(54): Show |
57 | 340 | 0.1677 | -9 | c.487 others(26): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 6/16 | chr17 | TogoVar | |||||||
MBTPS2_chrX_21834617_21890423 | 21836801 | TCATGTAC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG03041.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 others(1): Show |
4 | 308 | 0.0130 | -9 | c.-29 others(20): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 2815 | chrX | TogoVar | |||||||
MC2R_chr18_13877044_13920536 | 13908707 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0043a0001c0001t0078others(3): Show | a0001c0001t0008g0021 a0001c0001t0008g0063 a0001c0001t0008g0064 others(8): Show |
14 | 416 | 0.0337 | -9 | c.-12 others(28): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
MCAT_chr22_43127209_43148398 | 43130417 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(74): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0003a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0010 others(24): Show |
77 | 418 | 0.1842 | -9 | c.*26 others(20): Show |
MCAT | ENSG00000100294.13 | transcript | ENST00000290429.11 | protein_coding | 1791 | chr22 | TogoVar | |||||||
MCCC1_chr3_183010218_183104496 | 183102758 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01993.hp2 HG02055.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 others(16): Show |
20 | 344 | 0.0581 | -9 | c.-33 others(20): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 3263 | chr3 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113236133 | TGCAGAAT others(2): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03209.hp1 HG03453.hp2 others(2): Show |
a0001a0003 | a0001c0008a0001c0010a0003c0014 | a0001c0008t0031a0001c0010t0005a0001c0010t0028others(1): Show | a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0005g0036 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 | |||||||
MCF2L2_chr3_183173041_183433619 | 183238995 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00735.hp1 others(69): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0023a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 others(69): Show |
72 | 176 | 0.4091 | -9 | c.186 others(28): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 15/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183301014 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01109.hp1 others(24): Show |
a0003a0004a0009others(6): Show | a0003c0003a0004c0004a0009c0010others(7): Show | a0003c0003t0022a0004c0004t0001a0004c0004t0002others(16): Show | a0003c0003t0022g0157 a0004c0004t0001g0060 a0004c0004t0001g0072 others(24): Show |
27 | 176 | 0.1534 | -9 | c.111 others(26): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 10/29 | chr3 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113055385 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 NA18946.hp2 |
a0001a0007 | a0001c0001a0007c0020 | a0001c0001t0001a0007c0020t0002 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0007c0020t0002g0111 |
3 | 116 | 0.0259 | -9 | c.370 others(26): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | chr13 | TogoVar | |||||||
MCF2_chrX_139576770_139713167 | 139600169 | GGGGAAAA others(2): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 249 | 0.0040 | -9 | c.206 others(28): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 20/28 | chrX | TogoVar | |||||||
MCFD2_chr2_46896874_46920806 | 46915811 | GCCCCCCC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp2 others(119): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(38): Show |
122 | 412 | 0.2961 | -9 | c.-10 others(17): Show |
MCFD2 | ENSG00000180398.13 | transcript | ENST00000319466.9 | protein_coding | 6 | chr2 | TogoVar | |||||||
MCHR1_chr22_40674484_40687812 | 40687678 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00741.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0001 others(11): Show |
60 | 406 | 0.1478 | -9 | c.*57 others(20): Show |
MCHR1 | ENSG00000128285.5 | transcript | ENST00000249016.5 | protein_coding | 4867 | chr22 | TogoVar | |||||||
MCM10_chr10_13156558_13216110 | 13177508 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(99): Show |
a0001a0006a0008others(4): Show | a0001c0001a0001c0002a0006c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0056 others(93): Show |
102 | 432 | 0.2361 | -9 | c.764 others(26): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCM10_chr10_13156558_13216110 | 13190783 | ATATTGTT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0101 a0001c0001t0001g0219 a0001c0001t0001g0317 others(8): Show |
13 | 432 | 0.0301 | -9 | c.141 others(26): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCM3AP_chr21_46230133_46290611 | 46244395 | AGCACTGA others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01361.hp2 HG01928.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 a0001c0002t0002g0248 a0001c0002t0002g0280 others(2): Show |
7 | 360 | 0.0194 | -9 | c.503 others(26): Show |
MCM3AP | ENSG00000160294.11 | transcript | ENST00000291688.6 | protein_coding | 23/27 | chr21 | TogoVar | |||||||
MCM3AP_chr21_46230133_46290611 | 46259904 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01074.hp2 others(13): Show |
a0002a0013 | a0002c0003a0013c0043 | a0002c0003t0001a0013c0043t0001 | a0002c0003t0001g0015 a0002c0003t0001g0179 a0002c0003t0001g0181 others(12): Show |
16 | 360 | 0.0444 | -9 | c.358 others(26): Show |
MCM3AP | ENSG00000160294.11 | transcript | ENST00000291688.6 | protein_coding | 15/27 | chr21 | TogoVar | |||||||
MCM6_chr2_135834626_135881443 | 135873664 | ACAGAGGT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(119): Show |
a0001a0004a0009 | a0001c0001a0001c0014a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0020others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(57): Show |
122 | 394 | 0.3096 | -9 | c.108 others(24): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MCM8_chr20_5945652_6003977 | 5999397 | ATATATAG others(2): Show |
A | downstream_gene_variant | MODIFIER | NA18941.hp2 NA18987.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0041 | a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0041g0024 |
3 | 366 | 0.0082 | -9 | c.*50 others(20): Show |
MCM8 | ENSG00000125885.13 | transcript | ENST00000610722.4 | protein_coding | 421 | chr20 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118824035 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01884.hp2 HG02572.hp2 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0010 | a0001c0001t0007a0002c0003t0002a0007c0010t0008 | a0001c0001t0007g0104 a0001c0001t0007g0106 a0001c0001t0007g0107 others(3): Show |
6 | 348 | 0.0172 | -9 | c.196 others(28): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 13/13 | chr6 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118894980 | AGCGACCC others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02683.hp1 others(3): Show |
a0005 | a0005c0007 | a0005c0007t0005 | a0005c0007t0005g0057 a0005c0007t0005g0058 a0005c0007t0005g0059 others(3): Show |
6 | 348 | 0.0172 | -9 | c.115 others(30): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 8/13 | chr6 | TogoVar | |||||||
MCMBP_chr10_119824440_119877843 | 119836757 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01109.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0025 | a0001c0001t0002g0113 a0001c0001t0002g0179 a0001c0002t0004g0009 others(14): Show |
18 | 400 | 0.0450 | -9 | c.154 others(26): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 13/15 | chr10 | TogoVar | |||||||
MCOLN2_chr1_84920583_85002113 | 85001906 | AGGTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02155.hp1 NA18974.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0006g0184 |
3 | 350 | 0.0086 | -9 | c.-50 others(20): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 4794 | chr1 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6419181 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02135.hp1 HG03669.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0007t0001 | a0001c0001t0001g0205 a0001c0001t0005g0008 a0001c0007t0001g0138 |
3 | 262 | 0.0115 | -9 | c.233 others(26): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6590429 | AGCAGGCC others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(128): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0007a0001c0021others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(95): Show | a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0205 others(128): Show |
131 | 262 | 0.5000 | -9 | c.221 others(30): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6623688 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02451.hp1 HG02486.hp1 others(8): Show |
a0002a0003a0006others(7): Show | a0002c0034a0003c0003a0006c0027others(7): Show | a0002c0034t0073a0003c0003t0003a0006c0027t0023others(7): Show | a0002c0034t0073g0160 a0003c0003t0003g0186 a0006c0027t0023g0227 others(8): Show |
11 | 262 | 0.0420 | -9 | c.245 others(28): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94796596 | CATATATA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03927.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0005 | a0001c0002t0001g0031 a0002c0005t0005g0060 |
2 | 98 | 0.0204 | -9 | c.255 others(28): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 18/22 | chr5 | TogoVar |