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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LY86_chr6_6583720_6659982 | 6624374 | A | AATGGGAT others(8): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 424 | 0.0024 | 15 | c.137 others(30): Show |
LY86 | ENSG00000112799.9 | transcript | ENST00000230568.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LY96_chr8_73986392_74034079 | 73996372 | C | CCTTCCTT others(8): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 314 | 0.0032 | 15 | c.112 others(32): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LY96_chr8_73986392_74034079 | 74002093 | T | TTCTTTCT others(8): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 314 | 0.0032 | 15 | c.113 others(32): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LY9_chr1_160791174_160833255 | 160821151 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00735.hp2 others(48): Show |
a0001a0002a0006 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0012t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0018 others(35): Show |
51 | 394 | 0.1294 | 15 | c.149 others(34): Show |
LY9 | ENSG00000122224.18 | transcript | ENST00000263285.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LY9_chr1_160791174_160833255 | 160821163 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 394 | 0.0025 | 15 | c.149 others(34): Show |
LY9 | ENSG00000122224.18 | transcript | ENST00000263285.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LY9_chr1_160791174_160833255 | 160828904 | G | GAAAAAGA others(8): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 HG02258.hp1 HG04115.hp2 others(3): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0145 others(3): Show |
6 | 394 | 0.0152 | 15 | c.*10 others(26): Show |
LY9 | ENSG00000122224.18 | transcript | ENST00000263285.11 | protein_coding | 650 | chr1 | TogoVar | |||||||
LYG2_chr2_99237246_99260666 | 99249426 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0098 |
4 | 426 | 0.0094 | 15 | c.44- others(30): Show |
LYG2 | ENSG00000185674.10 | transcript | ENST00000333017.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
LYN_chr8_55874835_56019169 | 56002604 | A | AAAATTAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0027 | a0001c0002t0011g0231 a0001c0002t0027g0070 |
2 | 288 | 0.0069 | 15 | c.133 others(34): Show |
LYN | ENSG00000254087.8 | transcript | ENST00000519728.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LYN_chr8_55874835_56019169 | 56008124 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0017a0001c0002t0022 | a0001c0002t0017g0061 a0001c0002t0017g0062 a0001c0002t0022g0280 |
3 | 288 | 0.0104 | 15 | c.133 others(34): Show |
LYN | ENSG00000254087.8 | transcript | ENST00000519728.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LYN_chr8_55874835_56019169 | 56008124 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0006 | 1 | 288 | 0.0035 | 15 | c.133 others(34): Show |
LYN | ENSG00000254087.8 | transcript | ENST00000519728.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LYPD1_chr2_132638286_132675205 | 132655514 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0047 | 1 | 354 | 0.0028 | 15 | c.191 others(32): Show |
LYPD1 | ENSG00000150551.11 | transcript | ENST00000397463.3 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
LYPD4_chr19_41832074_41849683 | 41836287 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG01358.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0059 a0001c0002t0002g0002 a0001c0002t0002g0005 others(5): Show |
9 | 428 | 0.0210 | 15 | c.*85 others(24): Show |
LYPD4 | ENSG00000273111.6 | transcript | ENST00000609812.6 | protein_coding | 786 | chr19 | TogoVar | |||||||
LYPD4_chr19_41832074_41849683 | 41839680 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00673.hp1 others(32): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0002t0002others(4): Show | a0001c0001t0004g0137 a0001c0001t0005g0017 a0001c0001t0005g0064 others(16): Show |
35 | 428 | 0.0818 | 15 | c.-12 others(32): Show |
LYPD4 | ENSG00000273111.6 | transcript | ENST00000609812.6 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
LYPD6B_chr2_149033699_149220262 | 149072482 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0042 others(20): Show |
23 | 264 | 0.0871 | 15 | c.-67 others(34): Show |
LYPD6B | ENSG00000150556.17 | transcript | ENST00000409642.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LYPD6B_chr2_149033699_149220262 | 149072521 | T | TATTTTAT others(8): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02109.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0171 a0001c0001t0001g0258 |
3 | 264 | 0.0114 | 15 | c.-67 others(34): Show |
LYPD6B | ENSG00000150556.17 | transcript | ENST00000409642.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LYPD6B_chr2_149033699_149220262 | 149098643 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01346.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0047 others(9): Show |
12 | 264 | 0.0455 | 15 | c.-66 others(34): Show |
LYPD6B | ENSG00000150556.17 | transcript | ENST00000409642.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LYPD6B_chr2_149033699_149220262 | 149120383 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 264 | 0.0038 | 15 | c.-66 others(34): Show |
LYPD6B | ENSG00000150556.17 | transcript | ENST00000409642.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LYPD6B_chr2_149033699_149220262 | 149120383 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 264 | 0.0038 | 15 | c.-66 others(34): Show |
LYPD6B | ENSG00000150556.17 | transcript | ENST00000409642.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LYPD6B_chr2_149033699_149220262 | 149212380 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 264 | 0.0038 | 15 | c.329 others(30): Show |
LYPD6B | ENSG00000150556.17 | transcript | ENST00000409642.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LYPLA1_chr8_54041367_54106947 | 54084133 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0154 |
2 | 306 | 0.0065 | 15 | c.101 others(34): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
LYPLA1_chr8_54041367_54106947 | 54084133 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 306 | 0.0033 | 15 | c.101 others(34): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
LYRM1_chr16_20895771_20930006 | 20904726 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 382 | 0.0026 | 15 | c.-1+ others(30): Show |
LYRM1 | ENSG00000102897.10 | transcript | ENST00000567954.6 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
LYRM1_chr16_20895771_20930006 | 20927049 | C | CTATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 382 | 0.0026 | 15 | c.*29 others(26): Show |
LYRM1 | ENSG00000102897.10 | transcript | ENST00000567954.6 | protein_coding | 2044 | chr16 | TogoVar | |||||||
LYRM1_chr16_20895771_20930006 | 20927068 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 382 | 0.0026 | 15 | c.*29 others(26): Show |
LYRM1 | ENSG00000102897.10 | transcript | ENST00000567954.6 | protein_coding | 2063 | chr16 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5118094 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0072 a0001c0001t0004g0178 |
2 | 286 | 0.0070 | 15 | c.208 others(32): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5118094 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01884.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0040 a0001c0001t0002g0034 a0001c0001t0002g0045 others(17): Show |
20 | 286 | 0.0699 | 15 | c.208 others(32): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5118094 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02630.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0008a0002c0002t0009 | a0002c0002t0005g0242 a0002c0002t0005g0244 a0002c0002t0005g0265 others(4): Show |
7 | 286 | 0.0245 | 15 | c.208 others(32): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5118094 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18993.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0005 | a0001c0001t0002g0075 a0002c0002t0005g0210 |
2 | 286 | 0.0070 | 15 | c.208 others(32): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
LYRM7_chr5_131165944_131210428 | 131175749 | G | GGTTTGGT others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01261.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0021a0001c0001t0063others(1): Show | a0001c0001t0007g0017 a0001c0001t0021g0049 a0001c0001t0021g0050 others(2): Show |
5 | 300 | 0.0167 | 15 | c.19- others(30): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LYRM7_chr5_131165944_131210428 | 131181300 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 300 | 0.0033 | 15 | c.92- others(28): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
LYRM7_chr5_131165944_131210428 | 131181302 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0220 | 1 | 300 | 0.0033 | 15 | c.92- others(28): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LYRM7_chr5_131165944_131210428 | 131181302 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0197 a0001c0001t0002g0133 |
2 | 300 | 0.0067 | 15 | c.92- others(28): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LYRM7_chr5_131165944_131210428 | 131181302 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0209 a0001c0001t0017g0154 |
2 | 300 | 0.0067 | 15 | c.92- others(28): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
LYSMD1_chr1_151154748_151170902 | 151160238 | C | CAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0001t0026a0001c0001t0038others(3): Show | a0001c0001t0020g0096 a0001c0001t0020g0134 a0001c0001t0026g0023 others(7): Show |
13 | 344 | 0.0378 | 15 | c.*62 others(24): Show |
LYSMD1 | ENSG00000163155.12 | transcript | ENST00000368908.10 | protein_coding | 3/3 | 643 | chr1 | TogoVar | ||||||
LYST_chr1_235656041_235871906 | 235689026 | T | TAATAATA others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0107 | 1 | 236 | 0.0042 | 15 | c.107 others(36): Show |
LYST | ENSG00000143669.16 | transcript | ENST00000389793.7 | protein_coding | 47/52 | chr1 | TogoVar | |||||||
LYZL1_chr10_29284070_29316232 | 29306549 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 HG02922.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0004a0003c0004t0005 | a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0280 others(2): Show |
5 | 442 | 0.0113 | 15 | c.299 others(32): Show |
LYZL1 | ENSG00000120563.10 | transcript | ENST00000649382.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LYZ_chr12_69343381_69359234 | 69346451 | T | TTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0026 | 2 | 450 | 0.0044 | 15 | c.-19 others(26): Show |
LYZ | ENSG00000090382.7 | transcript | ENST00000261267.7 | protein_coding | 1929 | chr12 | TogoVar | |||||||
LYZ_chr12_69343381_69359234 | 69353497 | C | CTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp1 HG03927.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017 | a0001c0001t0016g0037 a0001c0001t0016g0038 a0001c0001t0017g0001 others(1): Show |
4 | 450 | 0.0089 | 15 | c.*28 others(24): Show |
LYZ | ENSG00000090382.7 | transcript | ENST00000261267.7 | protein_coding | 4/4 | 290 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LZTS3_chr20_3157617_3178549 | 3167430 | T | TGCTCAGC others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02523.hp1 HG02602.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0002g0005 a0001c0001t0002g0206 a0001c0001t0002g0220 others(9): Show |
18 | 446 | 0.0404 | 15 | c.-18 others(30): Show |
LZTS3 | ENSG00000088899.16 | transcript | ENST00000337576.7 | protein_coding | 2/4 | chr20 | TogoVar | |||||||
M1AP_chr2_74552883_74653330 | 74561091 | A | AAGGAGAA others(8): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19055.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0076 |
3 | 248 | 0.0121 | 15 | c.128 others(32): Show |
M1AP | ENSG00000159374.18 | transcript | ENST00000421985.2 | protein_coding | 8/10 | chr2 | TogoVar | |||||||
M1AP_chr2_74552883_74653330 | 74561142 | A | AAGGAGGA others(8): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 248 | 0.0040 | 15 | c.128 others(32): Show |
M1AP | ENSG00000159374.18 | transcript | ENST00000421985.2 | protein_coding | 8/10 | chr2 | TogoVar | |||||||
MAB21L1_chr13_35468789_35481689 | 35476296 | C | CCTGCTGC others(8): Show |
5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01168.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0028a0001c0001t0049 | a0001c0001t0017g0000 a0001c0001t0028g0000 a0001c0001t0049g0000 |
11 | 466 | 0.0236 | 15 | c.-17 others(24): Show |
MAB21L1 | ENSG00000180660.9 | transcript | ENST00000379919.6 | protein_coding | 1/1 | 159 | chr13 | TogoVar | ||||||
MAB21L3_chr1_116106399_116143149 | 116125859 | G | GGGCAGGG others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00733.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0007a0001c0002t0017others(2): Show | a0001c0002t0005g0009 a0001c0002t0005g0128 a0001c0002t0005g0131 others(8): Show |
18 | 412 | 0.0437 | 15 | c.481 others(32): Show |
MAB21L3 | ENSG00000173212.5 | transcript | ENST00000369500.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39217240 | C | CTATTTTA others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0025 | a0025c0057 | a0025c0057t0001 | a0025c0057t0001g0168 | 1 | 246 | 0.0041 | 15 | c.109 others(34): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 1/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39289693 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0124 | 1 | 246 | 0.0041 | 15 | c.178 others(34): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 15/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39307901 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0210 | 1 | 246 | 0.0041 | 15 | c.279 others(34): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 23/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39406756 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02145.hp2 others(5): Show |
a0002a0038 | a0002c0004a0002c0024a0002c0025others(1): Show | a0002c0004t0001a0002c0024t0001a0002c0025t0001others(1): Show | a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0223 others(5): Show |
8 | 246 | 0.0325 | 15 | c.158 others(38): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 58/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39440111 | C | CTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02922.hp2 NA20129.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0009 a0002c0004t0001g0011 a0002c0004t0001g0012 |
3 | 246 | 0.0122 | 15 | c.184 others(34): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 72/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14577794 | A | AAAGAGAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01168.hp2 HG03041.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0002c0002t0007a0003c0003t0006 | a0001c0001t0004g0008 a0002c0002t0007g0013 a0003c0003t0006g0019 |
3 | 24 | 0.1250 | 15 | c.301 others(34): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14857810 | G | GTTTGTTT others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0012 a0002c0002t0002g0022 |
2 | 24 | 0.0833 | 15 | c.418 others(36): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |