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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAT2A_chr2_85534168_85550281 | 85542658 | A | ACCAGTCA others(10): Show |
frameshift_variant | HIGH | NA18987.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0019 | 1 | 416 | 0.0024 | 17 | c.865 others(24): Show |
p.Lys others(5): Show |
MAT2A | ENSG00000168906.13 | transcript | ENST00000306434.8 | protein_coding | 7/9 | 986/2817 | 866/1188 | 289/395 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
MATCAP2_chr7_36319152_36372240 | 36337098 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00639.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0066 others(21): Show |
26 | 45 | 0.5778 | 17 | c.715 others(32): Show |
MATCAP2 | ENSG00000164542.13 | transcript | ENST00000440378.6 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
MATK_chr19_3772973_3791381 | 3788142 | A | ATTATATT others(10): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 432 | 0.0023 | 17 | c.-21 others(28): Show |
MATK | ENSG00000007264.15 | transcript | ENST00000310132.11 | protein_coding | 1762 | chr19 | TogoVar | |||||||
MATN2_chr8_97864064_98041724 | 97945717 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0065 | a0001c0065t0007 | a0001c0065t0007g0301 | 1 | 61 | 0.0164 | 17 | c.835 others(34): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97945717 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03139.hp1 |
a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0122 a0001c0020t0002g0140 |
2 | 62 | 0.0323 | 17 | c.835 others(34): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97988171 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0288 | 1 | 126 | 0.0079 | 17 | c.108 others(36): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97988171 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0082 | 1 | 126 | 0.0079 | 17 | c.108 others(36): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97988171 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0027 | a0027c0044 | a0027c0044t0003 | a0027c0044t0003g0065 | 1 | 126 | 0.0079 | 17 | c.108 others(36): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97988171 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0015 | 1 | 126 | 0.0079 | 17 | c.108 others(36): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97992745 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001a0001c0021a0001c0025 | a0001c0001t0002a0001c0021t0006a0001c0021t0011others(1): Show | a0001c0001t0002g0255 a0001c0021t0006g0286 a0001c0021t0011g0238 others(1): Show |
4 | 165 | 0.0242 | 17 | c.108 others(36): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 98000596 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00609.hp2 others(26): Show |
a0001 | a0001c0001a0001c0027a0001c0059others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0027t0002others(2): Show | a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0002g0080 others(26): Show |
29 | 280 | 0.1036 | 17 | c.120 others(36): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN3_chr2_19987052_20017668 | 20010067 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001 | a0001c0002t0001g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 others(2): Show |
7 | 10 | 0.7000 | 17 | c.223 others(34): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
MATN4_chr20_45288450_45313299 | 45305805 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02257.hp1 HG02896.hp1 |
a0003a0004 | a0003c0002a0004c0005 | a0003c0002t0001a0004c0005t0002 | a0003c0002t0001g0230 a0004c0005t0002g0052 |
3 | 10 | 0.3000 | 17 | c.-34 others(32): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
MATR3_chr5_139288740_139336677 | 139290438 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 4 | 0.2500 | 17 | c.-35 others(28): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 3301 | chr5 | TogoVar | |||||||
MB21D2_chr3_192791815_192922856 | 192859906 | G | GCACCAAC others(10): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 296 | 0.0034 | 17 | c.211 others(36): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBD2_chr18_54146606_54229669 | 54168612 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0128 | 1 | 292 | 0.0034 | 17 | c.841 others(34): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
MBD2_chr18_54146606_54229669 | 54180890 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0030 a0001c0001t0019g0031 |
2 | 295 | 0.0068 | 17 | c.840 others(34): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
MBD2_chr18_54146606_54229669 | 54211449 | T | TAAGTCAG others(10): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 298 | 0.0034 | 17 | c.543 others(34): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
MBD3L1_chr19_8827377_8848319 | 8838252 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03942.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0124 |
7 | 110 | 0.0636 | 17 | c.-10 others(36): Show |
MBD3L1 | ENSG00000170948.4 | transcript | ENST00000595891.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MBD3L2_chr19_7044321_7056735 | 7054760 | A | ATATTTAT others(10): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 256 | 0.0039 | 17 | c.*31 others(28): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 3026 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061722 | T | TATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 285 | 0.0070 | 17 | c.-31 others(28): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3047 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7062436 | T | TAATTATA others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(117): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 120 | 279 | 0.4301 | 17 | c.-38 others(28): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3761 | chr19 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148288399 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01175.hp2 HG01243.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0095 a0001c0001t0002g0125 a0001c0001t0003g0017 others(6): Show |
9 | 92 | 0.0978 | 17 | c.-67 others(38): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148294501 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18972.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0064 a0001c0001t0001g0090 a0001c0001t0010g0086 |
3 | 37 | 0.0811 | 17 | c.-67 others(38): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148294501 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0002 | 1 | 35 | 0.0286 | 17 | c.-67 others(38): 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(10): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02602.hp2 NA19006.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0117 a0001c0001t0002g0042 a0001c0001t0016g0139 others(1): Show |
4 | 21 | 0.1905 | 17 | c.-67 others(38): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBLAC2_chr5_90453209_90479771 | 90478569 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG02257.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0005g0025 others(2): Show |
6 | 101 | 0.0594 | 17 | c.-42 others(28): Show |
MBLAC2 | ENSG00000176055.10 | transcript | ENST00000316610.7 | protein_coding | 3799 | chr5 | TogoVar | |||||||
MBNL1_chr3_152263929_152470780 | 152325087 | G | GCCCCCCC others(10): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0265 a0001c0001t0002g0318 |
2 | 80 | 0.0250 | 17 | c.174 others(36): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97287918 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 166 | 0.0060 | 17 | c.174 others(36): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97291900 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0177 a0001c0001t0005g0238 a0001c0001t0005g0239 |
3 | 18 | 0.1667 | 17 | c.174 others(36): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBOAT1_chr6_20094684_20217469 | 20192995 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0267 | 1 | 76 | 0.0132 | 17 | c.99+ others(34): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20208445 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0055 others(75): Show |
78 | 140 | 0.5571 | 17 | c.99+ others(32): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBOAT2_chr2_8847690_9008684 | 8984539 | G | GTGAAAGC others(10): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0129 | 1 | 160 | 0.0063 | 17 | c.75+ others(34): Show |
MBOAT2 | ENSG00000143797.12 | transcript | ENST00000305997.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54184114 | C | CCAAAAAT others(10): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0260 | 1 | 372 | 0.0027 | 17 | c.334 others(32): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77025705 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0016 a0001c0001t0003g0110 a0001c0002t0001g0003 |
3 | 120 | 0.0250 | 17 | c.140 others(34): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77057824 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 NA19006.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0035a0001c0002t0007 | a0001c0001t0001g0163 a0001c0001t0035g0215 a0001c0002t0007g0357 |
3 | 299 | 0.0100 | 17 | c.139 others(34): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77084431 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 104 | 0.0096 | 17 | c.52- others(34): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77098168 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01257.hp1 HG01258.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0002g0301 others(12): Show |
15 | 96 | 0.1563 | 17 | c.51+ others(32): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176397 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0331 | 1 | 297 | 0.0034 | 17 | c.*41 others(28): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1027 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0186 | 1 | 137 | 0.0073 | 17 | c.*41 others(28): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0212 | 1 | 137 | 0.0073 | 17 | c.*41 others(28): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51179488 | A | ATATATAT others(10): Show |
3_prime_UTR_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 324 | 0.0031 | 17 | c.*10 others(28): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1087 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51190750 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0176 | 1 | 72 | 0.0139 | 17 | c.176 others(36): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 16/16 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51194566 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02129.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0324 others(2): Show |
5 | 88 | 0.0568 | 17 | c.137 others(34): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 13/16 | chr17 | TogoVar | |||||||
MBTPS2_chrX_21834617_21890423 | 21879949 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0039 others(11): Show |
16 | 157 | 0.1019 | 17 | c.126 others(34): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MC1R_chr16_89913862_89925972 | 89916992 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01175.hp2 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0000 | 2 | 219 | 0.0091 | 17 | c.-22 others(28): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 1869 | chr16 | TogoVar | |||||||
MC1R_chr16_89913862_89925972 | 89916992 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG02080.hp2 HG02165.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0000 | 5 | 222 | 0.0225 | 17 | c.-22 others(28): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 1869 | chr16 | TogoVar | |||||||
MC1R_chr16_89913862_89925972 | 89916992 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0000 | 1 | 218 | 0.0046 | 17 | c.-22 others(28): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 1869 | chr16 | TogoVar | |||||||
MC1R_chr16_89913862_89925972 | 89916992 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02135.hp1 HG02523.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0000 | 6 | 223 | 0.0269 | 17 | c.-22 others(28): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 1869 | chr16 | TogoVar | |||||||
MC1R_chr16_89913862_89925972 | 89916993 | T | TATATATA others(10): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0000 | 1 | 375 | 0.0027 | 17 | c.-22 others(28): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 1868 | chr16 | TogoVar |