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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLF11_chr2_10038550_10059836 | 10044118 | CTTGGGGG others(36): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(289): Show |
a0001a0003a0007 | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(130): Show |
292 | 412 | 0.7087 | -43 | c.42+ others(56): Show |
KLF11 | ENSG00000172059.11 | transcript | ENST00000305883.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL15_chrX_23978720_24032186 | 23979563 | AAAAAAAA others(36): Show |
A | downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 283 | 0.0035 | -43 | c.*83 others(54): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4156 | chrX | TogoVar | |||||||
KLHL30_chr2_238133668_238157947 | 238137276 | GCTGGGCT others(36): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(8): Show |
a0003a0010 | a0003c0003a0003c0006a0003c0033others(1): Show | a0003c0003t0001a0003c0006t0001a0003c0006t0004others(6): Show | a0003c0003t0001g0255 a0003c0006t0001g0029 a0003c0006t0004g0061 others(7): Show |
11 | 404 | 0.0272 | -43 | c.-15 others(54): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 1391 | chr2 | TogoVar | |||||||
KLHL30_chr2_238133668_238157947 | 238137299 | CTGGGCAA others(36): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0231 | 1 | 105 | 0.0095 | -43 | c.-15 others(54): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 1368 | chr2 | TogoVar | |||||||
KLHL30_chr2_238133668_238157947 | 238137362 | ACTGGGCT others(36): Show |
A | upstream_gene_variant | MODIFIER | NA18981.hp1 NA18999.hp2 NA19004.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0010 a0003c0003t0001g0251 |
3 | 448 | 0.0067 | -43 | c.-14 others(54): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 1305 | chr2 | TogoVar | |||||||
KLHL6_chr3_183482551_183560706 | 183507908 | TCTGGAAC others(36): Show |
T | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0171 | 1 | 296 | 0.0034 | -43 | c.909 others(58): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9606648 | TTATATAT others(36): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 a0001c0001t0004g0328 a0001c0001t0004g0329 |
6 | 238 | 0.0252 | -43 | c.85+ others(58): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KNG1_chr3_186712359_186749410 | 186718312 | ACCACCAC others(36): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00639.hp1 others(94): Show |
a0001a0002a0004others(4): Show | a0001c0004a0002c0011a0002c0016others(6): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(25): Show | a0001c0004t0001g0003 a0001c0004t0001g0014 a0001c0004t0001g0030 others(77): Show |
97 | 428 | 0.2266 | -43 | c.195 others(58): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117772547 | ACCAAAGA others(36): Show |
A | intron_variant | MODIFIER | NA18962.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0079 a0001c0001t0040g0019 |
2 | 194 | 0.0103 | -43 | c.473 others(62): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62371723 | CGAAAGTC others(36): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0014 | a0014c0009 | a0014c0009t0001 | a0014c0009t0001g0108 | 1 | 184 | 0.0054 | -43 | c.-45 others(54): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 4412 | chr20 | TogoVar | |||||||
LARP6_chr15_70824130_70859157 | 70858633 | AAGGACCA others(36): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 390 | 0.0026 | -43 | c.-45 others(54): Show |
LARP6 | ENSG00000166173.11 | transcript | ENST00000299213.10 | protein_coding | 4477 | chr15 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969694 | AAAAATAT others(36): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0050 | 1 | 307 | 0.0033 | -43 | c.*51 others(54): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3341 | chr13 | TogoVar | |||||||
LBHD1_chr11_62657817_62677267 | 62674272 | CGTGCCTG others(36): Show |
C | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 358 | 0.0028 | -43 | c.-27 others(54): Show |
LBHD1 | ENSG00000162194.13 | transcript | ENST00000354588.8 | protein_coding | 2006 | chr11 | TogoVar | |||||||
LCN12_chr9_136947273_136960497 | 136953341 | TCACACCT others(36): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(277): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(24): Show |
280 | 380 | 0.7368 | -43 | c.252 others(58): Show |
LCN12 | ENSG00000184925.12 | transcript | ENST00000371633.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LCN12_chr9_136947273_136960497 | 136954499 | TCCTCCCG others(36): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 380 | 0.0026 | -43 | c.550 others(58): Show |
LCN12 | ENSG00000184925.12 | transcript | ENST00000371633.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LHX5_chr12_113457033_113476871 | 113475070 | GCCCCAGT others(36): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 394 | 0.0025 | -43 | c.-36 others(54): Show |
LHX5 | ENSG00000089116.4 | transcript | ENST00000261731.4 | protein_coding | 3200 | chr12 | TogoVar | |||||||
LIMK2_chr22_31207298_31285080 | 31229968 | ATATGGCT others(36): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 356 | 0.0028 | -43 | c.116 others(60): Show |
LIMK2 | ENSG00000182541.18 | transcript | ENST00000331728.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49579018 | GAGGGAGA others(36): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0006 | a0004c0006t0087 | a0004c0006t0087g0167 | 1 | 381 | 0.0026 | -43 | c.794 others(60): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
LIPI_chr21_14103813_14215955 | 14106193 | AAAAAAAA others(36): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0032 | 1 | 327 | 0.0031 | -43 | c.*27 others(54): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 2619 | chr21 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326845 | GAAAGAAA others(36): Show |
G | downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 316 | 0.0032 | -43 | c.*51 others(54): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4721 | chr5 | TogoVar | |||||||
LOC128125818_chr4_6059977_6075162 | 6072518 | GCCCTCGC others(36): Show |
G | upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | -43 | c.-23 others(54): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 2357 | chr4 | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188755809 | CAAAAAAA others(36): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0003 | a0002c0003t0024 | a0002c0003t0024g0041 | 1 | 31 | 0.0323 | -43 | c.124 others(62): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRC15_chr3_194350249_194374743 | 194370114 | ATTCAGGG others(36): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0033 | 1 | 355 | 0.0028 | -43 | c.-50 others(52): Show |
LRRC15 | ENSG00000172061.9 | transcript | ENST00000347624.4 | protein_coding | 372 | chr3 | TogoVar | |||||||
LRRC4C_chr11_40109209_41464652 | 40665321 | AAAAAATA others(36): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0017 | 1 | 42 | 0.0238 | -43 | c.-40 others(64): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
LRRC4_chr7_128022071_128036437 | 128028356 | TTGTTGTT others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0040 | 1 | 376 | 0.0027 | -43 | c.*28 others(52): Show |
LRRC4 | ENSG00000128594.8 | transcript | ENST00000249363.4 | protein_coding | 2/2 | 280 | chr7 | TogoVar | ||||||
LRRC69_chr8_91097619_91224257 | 91221855 | GTCTTCTG others(36): Show |
G | downstream_gene_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123 | 1 | 316 | 0.0032 | -43 | c.*28 others(54): Show |
LRRC69 | ENSG00000214954.9 | transcript | ENST00000448384.3 | protein_coding | 2599 | chr8 | TogoVar | |||||||
LRRTM4_chr2_76742685_77527376 | 76804724 | GATATATC others(36): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 128 | 0.0078 | -43 | c.155 others(64): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
LRTM1_chr3_54913231_54933059 | 54931967 | GTCCAGGA others(36): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0015 | a0003c0015t0010 | a0003c0015t0010g0090 | 1 | 346 | 0.0029 | -43 | c.-40 others(54): Show |
LRTM1 | ENSG00000144771.8 | transcript | ENST00000273286.6 | protein_coding | 3909 | chr3 | TogoVar | |||||||
LSM6_chr4_146170718_146196535 | 146172141 | CTTTCTTC others(36): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp2 HG03471.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019 | a0001c0001t0001g0032 a0001c0001t0004g0038 a0001c0001t0019g0040 |
3 | 373 | 0.0080 | -43 | c.-36 others(54): Show |
LSM6 | ENSG00000164167.12 | transcript | ENST00000296581.11 | protein_coding | 3576 | chr4 | TogoVar | |||||||
LUC7L2_chr7_139354894_139428454 | 139381352 | ATATTTTA others(36): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0112 a0001c0001t0004g0093 a0001c0001t0004g0105 others(2): Show |
5 | 201 | 0.0249 | -43 | c.156 others(60): Show |
LUC7L2 | ENSG00000146963.18 | transcript | ENST00000354926.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MAB21L4_chr2_240881048_240901156 | 240888173 | GGCCTCAG others(36): Show |
G | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 | 1 | 444 | 0.0023 | -43 | c.125 others(59): Show |
MAB21L4 | ENSG00000172478.18 | transcript | ENST00000388934.5 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
MACROH2A2_chr10_70047846_70117282 | 70050131 | TAGGCTGT others(36): Show |
T | upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 370 | 0.0027 | -43 | c.-29 others(54): Show |
MACROH2A2 | ENSG00000099284.15 | transcript | ENST00000373255.9 | protein_coding | 2714 | chr10 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2059154 | CAGAGGAG others(36): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 others(32): Show |
35 | 262 | 0.1336 | -43 | c.121 others(63): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2077028 | GAGACAGA others(36): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147 others(1): Show |
4 | 262 | 0.0153 | -43 | c.107 others(62): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 11/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1333896 | ACCCCCAT others(36): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0336 |
2 | 359 | 0.0056 | -43 | c.765 others(60): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1334086 | GCACCCAT others(36): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0140 a0001c0001t0001g0210 a0001c0001t0001g0313 others(20): Show |
23 | 382 | 0.0602 | -43 | c.765 others(60): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
MAP4K3_chr2_39244266_39442285 | 39320169 | AGTTAAAT others(36): Show |
A | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0229 | 1 | 230 | 0.0043 | -43 | c.919 others(60): Show |
MAP4K3 | ENSG00000011566.15 | transcript | ENST00000263881.8 | protein_coding | 12/33 | chr2 | TogoVar | |||||||
MAP7D2_chrX_20001713_20121907 | 20114454 | GCAGATTG others(36): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 208 | 0.0048 | -43 | c.130 others(60): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 1/16 | chrX | TogoVar | |||||||
MAP7_chr6_136337734_136555422 | 136456806 | AGAAGAAG others(36): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 245 | 0.0041 | -43 | c.68- others(60): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
MAPK8IP1_chr11_45880651_45911465 | 45894391 | ACCCACCC others(36): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 390 | 0.0026 | -43 | c.102 others(60): Show |
MAPK8IP1 | ENSG00000121653.11 | transcript | ENST00000241014.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MARS1_chr12_57483068_57521652 | 57493888 | ATATATTT others(36): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0240 others(6): Show |
11 | 286 | 0.0385 | -43 | c.770 others(60): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MASP1_chr3_187212282_187296737 | 187292472 | AAGGGCCC others(36): Show |
A | upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 382 | 0.0026 | -43 | c.-88 others(52): Show |
MASP1 | ENSG00000127241.18 | transcript | ENST00000337774.10 | protein_coding | 736 | chr3 | TogoVar | |||||||
MASP1_chr3_187229082_187296737 | 187292472 | AAGGGCCC others(36): Show |
A | upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 398 | 0.0025 | -43 | c.-88 others(52): Show |
MASP1 | ENSG00000127241.18 | transcript | ENST00000296280.11 | protein_coding | 736 | chr3 | TogoVar | |||||||
MAX_chr14_65070127_65107517 | 65081270 | AGGCCCAA others(36): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 380 | 0.0026 | -43 | c.172 others(60): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148102664 | TACACACA others(36): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0151 | 1 | 108 | 0.0093 | -43 | c.-92 others(64): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MCM9_chr6_118808455_118940159 | 118916605 | CACGCCAC others(36): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0012 | a0012c0020 | a0012c0020t0016 | a0012c0020t0016g0158 | 1 | 346 | 0.0029 | -43 | c.904 others(58): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6406837 | CCTCCCCC others(36): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(192): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0007a0001c0021others(72): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(133): Show | a0001c0001t0001g0074 a0001c0001t0001g0153 a0001c0001t0001g0154 others(192): Show |
195 | 260 | 0.7500 | -43 | c.22+ others(56): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6505296 | TATATATG others(36): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(2): Show |
a0001a0002a0033 | a0001c0001a0001c0033a0002c0002others(1): Show | a0001c0001t0030a0001c0033t0004a0002c0002t0011others(2): Show | a0001c0001t0030g0123 a0001c0033t0004g0037 a0002c0002t0011g0036 others(2): Show |
5 | 260 | 0.0192 | -43 | c.221 others(62): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169114625 | TTTGTAAT others(36): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0096 | 1 | 160 | 0.0063 | -43 | c.248 others(60): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 8/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169378503 | AAGAAAGA others(36): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0146 | 1 | 109 | 0.0092 | -43 | c.375 others(60): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar |