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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LAMA2_chr6_128878138_129521566 | 129507083 | T | TAGAAATT others(311): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0035 | a0002c0035t0006 | a0002c0035t0006g0028 | 1 | 88 | 0.0114 | 318 | c.870 others(335): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 61/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349805 | T | TGGTGGGG others(311): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03017.hp2 HG03491.hp1 others(1): Show |
a0001a0036a0040 | a0001c0010a0036c0086a0040c0089 | a0001c0010t0001a0001c0010t0002a0036c0086t0001others(1): Show | a0001c0010t0001g0119 a0001c0010t0002g0117 a0036c0086t0001g0143 others(1): Show |
4 | 186 | 0.0215 | 318 | c.956 others(335): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349826 | T | TGGCGGTG others(311): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 186 | 0.0054 | 318 | c.956 others(335): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LARS2_chr3_45383576_45554407 | 45501160 | A | ATGGAATT others(311): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 242 | 0.0041 | 318 | c.176 others(335): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45501160 | A | ATGGAATT others(311): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18966.hp1 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0017 | a0001c0001t0001g0098 a0001c0001t0007g0095 a0001c0001t0007g0103 others(1): Show |
4 | 242 | 0.0165 | 318 | c.176 others(335): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45501160 | A | ATGGAATT others(311): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(65): Show |
a0001a0005a0006 | a0001c0001a0001c0005a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(65): Show |
68 | 242 | 0.2810 | 318 | c.176 others(335): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45501160 | A | ATGGAATT others(311): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18945.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0144 a0001c0001t0003g0161 a0001c0001t0014g0148 |
3 | 242 | 0.0124 | 318 | c.176 others(335): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LEPR_chr1_65415668_65646559 | 65590243 | T | TAAAATTA others(311): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG01934.hp1 others(13): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0025a0003c0004others(4): Show | a0002c0002t0001a0002c0002t0005a0002c0025t0025others(9): Show | a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0070 others(13): Show |
16 | 216 | 0.0741 | 318 | c.495 others(335): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202204756 | C | CACACCTA others(311): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0173 | 1 | 262 | 0.0038 | 318 | c.212 others(337): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471560 | A | ATATATTT others(311): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00639.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0130 others(5): Show |
8 | 260 | 0.0308 | 318 | c.125 others(335): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507611 | C | CAGGATTT others(311): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 260 | 0.0039 | 318 | c.624 others(335): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610929 | A | AGGGTGAG others(311): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 260 | 0.0039 | 318 | c.717 others(335): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIN7A_chr12_80787520_80942934 | 80921440 | G | GAGTGCCA others(311): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0163 a0001c0001t0001g0197 a0001c0001t0003g0194 |
3 | 292 | 0.0103 | 318 | c.82+ others(335): Show |
LIN7A | ENSG00000111052.8 | transcript | ENST00000552864.6 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
LIPH_chr3_185501262_185557588 | 185544949 | T | TTCTGTTG others(311): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02273.hp1 NA18956.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0034 | a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0010g0016 others(2): Show |
5 | 358 | 0.0140 | 318 | c.49+ others(333): Show |
LIPH | ENSG00000163898.10 | transcript | ENST00000296252.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
LOC122526780_chr17_6631780_6645316 | 6635337 | T | TAAAAGCA others(311): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01496.hp1 others(15): Show |
a0001a0002a0015others(1): Show | a0001c0001a0002c0002a0002c0013others(2): Show | a0001c0001t0000a0002c0002t0000a0002c0013t0000others(2): Show | a0001c0001t0000g0000 a0002c0002t0000g0000 a0002c0013t0000g0000 others(2): Show |
18 | 428 | 0.0421 | 318 | c.*14 others(329): Show |
LOC122526780 | ENSG00000282936.3 | transcript | ENST00000713584.1 | protein_coding | 1442 | chr17 | TogoVar | |||||||
LRGUK_chr7_134122340_134269595 | 134227045 | T | TAAAAAAA others(311): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0002 | 1 | 220 | 0.0046 | 318 | c.198 others(337): Show |
LRGUK | ENSG00000155530.4 | transcript | ENST00000285928.3 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(311): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0248 | 1 | 296 | 0.0034 | 318 | c.368 others(335): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC4C_chr11_40109209_41464652 | 41145484 | A | ACTGACCA others(311): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp2 NA18989.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0009 a0001c0001t0002g0034 a0001c0002t0001g0011 |
3 | 48 | 0.0625 | 318 | c.-49 others(341): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69627862 | T | TAAGATAA others(311): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0074 | 1 | 108 | 0.0093 | 318 | c.3-5 others(333): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69946661 | T | TTATTTTG others(311): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02735.hp2 HG03710.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0021a0001c0001t0030others(6): Show | a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0021g0003 others(7): Show |
10 | 108 | 0.0926 | 318 | c.711 others(337): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69946661 | T | TTATTTTG others(311): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01515.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0028a0001c0003t0084 | a0001c0001t0006g0081 a0001c0003t0028g0014 a0001c0003t0084g0037 |
3 | 108 | 0.0278 | 318 | c.711 others(337): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRK1_chr15_100914357_101083257 | 101029463 | T | TAAAAGAA others(311): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0011 | a0001c0011t0090 | a0001c0011t0090g0117 | 1 | 338 | 0.0030 | 318 | c.296 others(335): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 20/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
LRRK2_chr12_40219997_40374285 | 40279207 | T | TGCCAATA others(311): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0088 | 1 | 382 | 0.0026 | 318 | c.224 others(335): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 18/50 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39211990 | T | TAATAGTG others(311): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01167.hp2 others(16): Show |
a0002a0027a0029others(3): Show | a0002c0003a0002c0015a0027c0063others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0015t0002others(5): Show | a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0002g0113 others(16): Show |
19 | 246 | 0.0772 | 318 | c.109 others(335): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 1/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39211990 | T | TAATAGTG others(311): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0023 | a0023c0074 | a0023c0074t0001 | a0023c0074t0001g0206 | 1 | 246 | 0.0041 | 318 | c.109 others(335): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 1/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAP3K21_chr1_233322724_233390148 | 233383384 | T | TAAAAGCT others(311): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp1 HG03710.hp2 NA19081.hp1 |
a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0059 a0002c0002t0024g0137 a0002c0002t0024g0160 |
3 | 372 | 0.0081 | 318 | c.*68 others(327): Show |
MAP3K21 | ENSG00000143674.11 | transcript | ENST00000366624.8 | protein_coding | 10/10 | 688 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MARCHF6_chr5_10348695_10445388 | 10422715 | T | TAAAGAAA others(311): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0276 | 1 | 284 | 0.0035 | 318 | c.228 others(337): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MIDEAS_chr14_73710122_73765303 | 73719828 | G | GCTCATGC others(311): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(54): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0030 others(121): Show |
128 | 352 | 0.3636 | 318 | c.293 others(335): Show |
MIDEAS | ENSG00000156030.14 | transcript | ENST00000423556.7 | protein_coding | 11/12 | chr14 | TogoVar | |||||||
MIDEAS_chr14_73710122_73765303 | 73719828 | G | GCTCATGC others(311): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 352 | 0.0028 | 318 | c.293 others(335): Show |
MIDEAS | ENSG00000156030.14 | transcript | ENST00000423556.7 | protein_coding | 11/12 | chr14 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543891 | G | GGGGACAG others(311): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0011 | a0011c0012 | a0011c0012t0002 | a0011c0012t0002g0101 | 1 | 286 | 0.0035 | 318 | c.153 others(337): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MMS19_chr10_97453324_97503422 | 97457425 | C | CAAGACCT others(311): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 |
2 | 372 | 0.0054 | 318 | c.*12 others(329): Show |
MMS19 | ENSG00000155229.21 | transcript | ENST00000438925.7 | protein_coding | 898 | chr10 | TogoVar | |||||||
MON1A_chr3_49903873_49934811 | 49913640 | T | TTAGTGTA others(311): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 262 | 0.0038 | 318 | c.-13 others(333): Show |
MON1A | ENSG00000164077.15 | transcript | ENST00000296473.8 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
MOSPD2_chrX_14868421_14927327 | 14899114 | T | TGAACTAG others(311): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 268 | 0.0037 | 318 | c.478 others(335): Show |
MOSPD2 | ENSG00000130150.12 | transcript | ENST00000380492.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43497757 | A | ATCTGCTC others(311): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03209.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002a0001c0003t0008 | a0001c0001t0002g0008 a0001c0003t0002g0168 a0001c0003t0008g0194 |
3 | 250 | 0.0120 | 318 | c.633 others(333): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPZL1_chr1_167716982_167796919 | 167743625 | G | GGTTAGGT others(311): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01074.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(1): Show | a0001c0001t0001g0031 a0001c0001t0007g0019 a0001c0001t0007g0021 others(16): Show |
19 | 378 | 0.0503 | 318 | c.91+ others(335): Show |
MPZL1 | ENSG00000197965.12 | transcript | ENST00000359523.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MROH7_chr1_54636786_54715266 | 54698799 | T | TTTTTTTT others(311): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0328 | 1 | 380 | 0.0026 | 318 | c.296 others(337): Show |
MROH7 | ENSG00000184313.20 | transcript | ENST00000421030.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68892196 | T | TGGGGTCA others(311): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0099 | 1 | 395 | 0.0025 | 318 | c.553 others(333): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
MRPS35_chr12_27705832_27761295 | 27711862 | A | AATAATTG others(311): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03688.hp1 NA18963.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 others(4): Show |
7 | 358 | 0.0196 | 318 | c.112 others(333): Show |
MRPS35 | ENSG00000061794.13 | transcript | ENST00000081029.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MTA1_chr14_105414827_105475729 | 105442778 | G | GCTGTGTG others(311): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 304 | 0.0033 | 318 | c.97- others(333): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTA1_chr14_105414827_105475729 | 105442796 | A | ACACAACA others(311): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG02155.hp2 others(1): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0061 a0002c0002t0001g0175 a0002c0002t0001g0241 others(1): Show |
4 | 304 | 0.0132 | 318 | c.97- others(333): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTA1_chr14_105414827_105475729 | 105442796 | A | ACACAACA others(311): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 304 | 0.0033 | 318 | c.97- others(333): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTMR12_chr5_32222007_32317939 | 32313934 | G | GCTAATTT others(311): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02809.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0042a0001c0001t0043others(1): Show | a0001c0001t0041g0015 a0001c0001t0042g0013 a0001c0001t0043g0010 others(1): Show |
4 | 364 | 0.0110 | 318 | c.-10 others(329): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 996 | chr5 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 28964738 | G | GCTTTTTT others(311): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0035 | 1 | 92 | 0.0109 | 318 | c.-24 others(339): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110251010 | T | TTTTTTTT others(311): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18953.hp1 NA19090.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0194 a0001c0001t0002g0300 a0001c0003t0002g0207 |
3 | 372 | 0.0081 | 318 | c.437 others(335): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 3/5 | chr10 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40200117 | T | TTACATTT others(311): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 170 | 0.0059 | 318 | c.166 others(337): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158668325 | C | CGCCCGCC others(311): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 378 | 0.0027 | 318 | c.147 others(337): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668342 | A | AACTGGGT others(311): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 378 | 0.0027 | 318 | c.147 others(337): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCK2_chr2_105739912_105899272 | 105836110 | T | TGGATTTC others(311): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 334 | 0.0030 | 318 | c.-16 others(337): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NDST3_chr4_118029486_118263634 | 118197683 | T | TTCCATGT others(311): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0207 | 1 | 216 | 0.0046 | 318 | c.154 others(339): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NDUFB4_chr3_120591336_120607507 | 120600109 | G | GTTTTTTT others(311): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 424 | 0.0024 | 318 | c.181 others(333): Show |
NDUFB4 | ENSG00000065518.8 | transcript | ENST00000184266.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |