view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQCJ_chr3_159064319_159268747 | 159229754 | C | CCCTCCCC others(229): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0030a0001c0001t0001g0038a0001c0001t0001g0079others(11): Show | 14 | 252 | 0.0556 | 236 | c.10- others(253): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229783 | C | CCCCCTCC others(229): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 252 | 0.0040 | 236 | c.10- others(253): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159229783 | C | CCCCCTCC others(229): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0111 | 1 | 252 | 0.0040 | 236 | c.10- others(253): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159229783 | C | CCCCCTCC others(229): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 252 | 0.0040 | 236 | c.10- others(253): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25106528 | T | TCAGACTC others(229): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 344 | 0.0058 | 236 | c.114 others(253): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | chr12 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25106550 | G | GTACAGTA others(229): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(67): Show |
a0001a0002a0009 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0008t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(64): Show | 70 | 344 | 0.2035 | 236 | c.114 others(253): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224728 | C | CCATCCAT others(229): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0122 | 1 | 292 | 0.0034 | 236 | c.121 others(255): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224731 | T | TCCATCCA others(229): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG02738.hp1 others(1): Show |
a0001a0008 | a0001c0001a0001c0016a0008c0011others(1): Show | a0001c0001t0001a0001c0016t0004a0008c0011t0004others(1): Show | a0001c0001t0001g0238a0001c0016t0004g0237a0008c0011t0004g0153others(1): Show | 4 | 292 | 0.0137 | 236 | c.121 others(255): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224732 | C | CCATCCAT others(229): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 292 | 0.0034 | 236 | c.121 others(255): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IZUMO3_chr9_24537952_24550897 | 24546511 | T | TCTTTTCT others(229): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0023 | 2 | 426 | 0.0047 | 236 | c.-86 others(245): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 615 | chr9 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132159769 | T | TGGGGGGC others(229): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0052 | 1 | 158 | 0.0063 | 236 | c.222 others(255): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160341 | T | TGGGGGAC others(229): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0135 | 1 | 158 | 0.0063 | 236 | c.222 others(255): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33403354 | C | CACACACA others(229): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02895.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0005a0001c0010a0001c0024others(1): Show | a0001c0005t0006a0001c0010t0030a0001c0024t0019others(1): Show | a0001c0005t0006g0110a0001c0010t0030g0109a0001c0024t0019g0108others(1): Show | 4 | 226 | 0.0177 | 236 | c.238 others(255): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168035461 | C | CGGGGGGG others(229): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0005 | a0004c0005t0015 | a0004c0005t0015g0163 | 1 | 375 | 0.0027 | 236 | c.317 others(253): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168035461 | C | CGGGGGGG others(229): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0122 | 1 | 375 | 0.0027 | 236 | c.317 others(253): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(229): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 338 | 0.0030 | 236 | c.130 others(253): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360517 | G | GGTGGGTG others(229): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 |
a0062a0063 | a0062c0037a0063c0038 | a0062c0037t0001a0063c0038t0001 | a0062c0037t0001g0172a0063c0038t0001g0171 | 2 | 186 | 0.0108 | 236 | c.450 others(253): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360602 | G | GTGGGTGG others(229): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0047 | a0047c0124 | a0047c0124t0001 | a0047c0124t0001g0083 | 1 | 186 | 0.0054 | 236 | c.450 others(253): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857744 | C | CGGGTGTG others(229): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0008 | a0008c0045 | a0008c0045t0003 | a0008c0045t0003g0072 | 1 | 294 | 0.0034 | 236 | c.153 others(255): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 896052 | C | CCCACACG others(229): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 294 | 0.0034 | 236 | c.664 others(253): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(229): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 414 | 0.0024 | 236 | c.171 others(253): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(229): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01175.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0230others(3): Show | 8 | 414 | 0.0193 | 236 | c.171 others(253): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(229): Show |
intron_variant | MODIFIER | HG02698.hp2 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105a0001c0002t0001g0303 | 2 | 414 | 0.0048 | 236 | c.171 others(253): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(229): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0299 | 1 | 414 | 0.0024 | 236 | c.171 others(253): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(229): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01978.hp1 HG02602.hp1 others(7): Show |
a0001 | a0001c0002a0001c0007a0001c0012others(1): Show | a0001c0002t0001a0001c0007t0001a0001c0012t0001others(1): Show | a0001c0002t0001g0278a0001c0002t0001g0289a0001c0002t0001g0290others(7): Show | 10 | 414 | 0.0242 | 236 | c.171 others(253): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(229): Show |
intron_variant | MODIFIER | HG03017.hp1 NA19012.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0283a0001c0005t0001g0122 | 2 | 414 | 0.0048 | 236 | c.171 others(253): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283422 | C | CACTTACT others(229): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0006 | a0001c0006t0056 | a0001c0006t0056g0160 | 1 | 296 | 0.0034 | 236 | c.368 others(253): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909119 | A | ATTATATA others(229): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0174 | 1 | 316 | 0.0032 | 236 | c.622 others(251): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(229): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 398 | 0.0025 | 236 | c.-42 others(247): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(229): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 236 | c.-42 others(247): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531545 | G | GGAGCAGC others(229): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 398 | 0.0050 | 236 | c.-46 others(247): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4513 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531840 | C | CGAGCAGC others(229): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 236 | c.-49 others(247): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4808 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531859 | G | GGGCTAGA others(229): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 236 | c.-49 others(247): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4827 | chr8 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186407 | G | GGGAGGAA others(229): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 350 | 0.0029 | 236 | c.*27 others(247): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2582 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 187190 | G | GGGAACAG others(229): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 350 | 0.0029 | 236 | c.*20 others(247): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1799 | chr16 | TogoVar | |||||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(229): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 364 | 0.0028 | 236 | c.52+ others(249): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(229): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0036 | a0001c0036t0002 | a0001c0036t0002g0174 | 1 | 364 | 0.0028 | 236 | c.52+ others(249): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(229): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(94): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0012a0002c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0040a0001c0001t0001g0180others(77): Show | 97 | 364 | 0.2665 | 236 | c.52+ others(249): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(229): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0240 | 1 | 364 | 0.0028 | 236 | c.52+ others(249): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(229): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(109): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0016a0001c0024others(17): Show | a0001c0001t0001a0001c0016t0001a0001c0024t0001others(20): Show | a0001c0001t0001g0081a0001c0016t0001g0028a0001c0016t0001g0086others(76): Show | 112 | 364 | 0.3077 | 236 | c.52+ others(249): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(229): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG02056.hp1 others(18): Show |
a0003a0005a0008others(1): Show | a0003c0041a0005c0007a0005c0015others(2): Show | a0003c0041t0001a0005c0007t0001a0005c0015t0001others(2): Show | a0003c0041t0001g0104a0005c0007t0001g0032a0005c0007t0001g0168others(14): Show | 21 | 364 | 0.0577 | 236 | c.52+ others(249): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAFG_chr17_81913270_81932735 | 81929905 | C | CCCTCCCG others(229): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0108 | 1 | 356 | 0.0028 | 236 | c.-24 others(247): Show |
MAFG | ENSG00000197063.11 | transcript | ENST00000357736.9 | protein_coding | 2171 | chr17 | TogoVar | |||||||
MAN2B2_chr4_6570189_6628362 | 6579132 | C | CCACCATC others(229): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 362 | 0.0028 | 236 | c.391 others(251): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MBOAT7_chr19_54168415_54194580 | 54181993 | G | GGGAGGGA others(229): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0288a0001c0006t0001g0307 | 2 | 373 | 0.0054 | 236 | c.494 others(251): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113333838 | T | TATATGTA others(229): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0077 | 1 | 160 | 0.0063 | 236 | c.627 others(253): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113333856 | T | TATATGTA others(229): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0016 | 1 | 160 | 0.0063 | 236 | c.627 others(253): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCOLN2_chr1_84920583_85002113 | 84987489 | C | CATATATG others(229): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0276 | 3 | 350 | 0.0086 | 236 | c.77+ others(251): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
MEIS2_chr15_36884204_37105549 | 36917487 | T | TTTCTCAT others(229): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 274 | 0.0037 | 236 | c.978 others(255): Show |
MEIS2 | ENSG00000134138.22 | transcript | ENST00000561208.6 | protein_coding | 9/11 | chr15 | TogoVar | |||||||
MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(229): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 181 | 0.0055 | 236 | c.107 others(255): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(229): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 181 | 0.0055 | 236 | c.107 others(255): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar |