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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMPD3_chr11_10450264_10512579 | 10469902 | TAGTGGCG others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02818.hp1 others(8): Show |
a0001a0004 | a0001c0003a0004c0015 | a0001c0003t0004a0001c0003t0007a0001c0003t0010others(2): Show | a0001c0003t0004g0003a0001c0003t0004g0023a0001c0003t0004g0170others(6): Show | 11 | 390 | 0.0282 | -12 | c.221 others(29): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10470751 | CAAGGGAT others(5): Show |
C | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 | 1 | 390 | 0.0026 | -12 | c.222 others(29): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10504115 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(183): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0012a0001c0001t0001g0058a0001c0001t0001g0059others(168): Show | 186 | 390 | 0.4769 | -12 | c.201 others(29): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMPH_chr7_38378704_38636373 | 38390961 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01255.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0001a0001c0007t0005a0002c0004t0005 | a0001c0001t0001g0048a0001c0001t0001g0055a0001c0001t0001g0177others(5): Show | 8 | 288 | 0.0278 | -12 | c.187 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38406731 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 288 | 0.0035 | -12 | c.139 others(33): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407076 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 288 | 0.0035 | -12 | c.139 others(33): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38422554 | GTATCTAT others(5): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01255.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0014 | a0001c0001t0001a0001c0002t0002a0006c0014t0005 | a0001c0001t0001g0149a0001c0002t0002g0035a0001c0002t0002g0078others(6): Show | 9 | 288 | 0.0313 | -12 | c.121 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 15/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38432587 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG02615.hp2 HG02647.hp2 others(3): Show |
a0001a0003 | a0001c0002a0003c0006a0003c0010 | a0001c0002t0002a0003c0006t0003a0003c0006t0004others(1): Show | a0001c0002t0002g0108a0003c0006t0003g0245a0003c0006t0004g0084others(3): Show | 6 | 288 | 0.0208 | -12 | c.113 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38473710 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 288 | 0.0035 | -12 | c.590 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38501766 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0180 | 1 | 288 | 0.0035 | -12 | c.205 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 3/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525269 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 288 | 0.0035 | -12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525271 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG04115.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0285a0001c0001t0004g0006 | 2 | 288 | 0.0069 | -12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525273 | TATATAGA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0012a0001c0001t0006g0277 | 2 | 288 | 0.0069 | -12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525277 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0001t0004a0001c0009t0006 | a0001c0001t0003g0039a0001c0001t0004g0045a0001c0001t0004g0054others(2): Show | 5 | 288 | 0.0174 | -12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38527114 | AATCTACA others(5): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0107 | 1 | 288 | 0.0035 | -12 | c.150 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38541017 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01358.hp2 HG01496.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0005a0001c0007t0008 | a0001c0001t0003g0030a0001c0007t0005g0076a0001c0007t0005g0105others(2): Show | 5 | 288 | 0.0174 | -12 | c.70- others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38610299 | AAGAAAAG others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01192.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0001g0068a0001c0001t0001g0073a0001c0001t0001g0144others(10): Show | 13 | 288 | 0.0451 | -12 | c.69+ others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38620548 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 HG02280.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0124a0001c0001t0001g0125others(12): Show | 15 | 288 | 0.0521 | -12 | c.69+ others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38631409 | CGGAGGAG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02896.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0003c0006t0004 | a0001c0001t0001g0087a0001c0001t0004g0086a0003c0006t0004g0084others(2): Show | 5 | 288 | 0.0174 | -12 | c.-70 others(19): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 37 | chr7 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70516314 | ATATATAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp2 NA19088.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0010a0002c0003t0001g0004 | 2 | 458 | 0.0044 | -12 | c.-23 others(23): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2254 | chr4 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70516361 | TGTATATA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02109.hp1 HG02486.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0046a0001c0001t0001g0100a0001c0001t0001g0101others(1): Show | 5 | 458 | 0.0109 | -12 | c.-23 others(23): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2207 | chr4 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70535061 | AAAATAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01109.hp1 others(34): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0030others(18): Show | 37 | 458 | 0.0808 | -12 | c.*25 others(23): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2319 | chr4 | TogoVar | ||||||
AMY2B_chr1_103566589_103584534 | 103575060 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp2 NA20129.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0027 | 2 | 408 | 0.0049 | -12 | c.879 others(27): Show |
AMY2B | ENSG00000240038.8 | transcript | ENST00000684275.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ANAPC10_chr4_144989576_145103196 | 145026987 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 336 | 0.0030 | -12 | c.328 others(31): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145036995 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01943.hp2 HG02300.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0267a0001c0001t0001g0269a0001c0001t0001g0273others(7): Show | 10 | 336 | 0.0298 | -12 | c.327 others(31): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145037028 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 336 | 0.0030 | -12 | c.327 others(31): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145039010 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01358.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0215a0001c0001t0001g0216others(16): Show | 19 | 336 | 0.0566 | -12 | c.327 others(31): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145054604 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0025others(8): Show | 11 | 336 | 0.0327 | -12 | c.327 others(29): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145054630 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02273.hp1 HG02559.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0118a0001c0001t0001g0119others(4): Show | 7 | 336 | 0.0208 | -12 | c.327 others(29): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145054632 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 336 | 0.0030 | -12 | c.327 others(29): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145054636 | TGTGTGCG others(5): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 336 | 0.0030 | -12 | c.327 others(29): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145054672 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0026 | 2 | 336 | 0.0060 | -12 | c.327 others(29): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC16_chr10_72211012_72240860 | 72218159 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02698.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0109a0001c0001t0001g0183a0001c0001t0026g0182 | 3 | 352 | 0.0085 | -12 | c.-28 others(29): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72218161 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG02572.hp2 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0002g0294others(1): Show | 4 | 352 | 0.0114 | -12 | c.-28 others(29): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72218163 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 352 | 0.0028 | -12 | c.-28 others(29): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72218165 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03041.hp1 HG03942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0260a0001c0001t0001g0265a0001c0001t0002g0197others(2): Show | 5 | 352 | 0.0142 | -12 | c.-28 others(29): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC1_chr2_111762640_111889193 | 111788674 | AATGTATA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0004a0001c0008t0008g0145a0001c0008t0008g0146others(2): Show | 6 | 370 | 0.0162 | -12 | c.471 others(29): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 38/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111846549 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0144 | 1 | 370 | 0.0027 | -12 | c.185 others(29): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111846551 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp1 NA19056.hp2 |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0305a0001c0005t0006g0320 | 2 | 370 | 0.0054 | -12 | c.185 others(29): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111885035 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0005t0006others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0067a0001c0003t0004g0289others(3): Show | 6 | 370 | 0.0162 | -12 | c.-11 others(23): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 843 | chr2 | TogoVar | ||||||
ANAPC2_chr9_137169784_137193560 | 137174912 | TGGCGGGC others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0118 | 1 | 416 | 0.0024 | -12 | c.*18 others(19): Show |
ANAPC2 | ENSG00000176248.9 | transcript | ENST00000323927.3 | protein_coding | 13/13 | 18 | chr9 | TogoVar | |||||
ANAPC2_chr9_137169784_137193560 | 137182469 | ACTGCACT others(5): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 416 | 0.0024 | -12 | c.128 others(29): Show |
ANAPC2 | ENSG00000176248.9 | transcript | ENST00000323927.3 | protein_coding | 6/12 | chr9 | TogoVar | ||||||
ANAPC5_chr12_121303245_121357411 | 121354497 | ATGCATTA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 278 | 0.0036 | -12 | c.-21 others(23): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 2087 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110381771 | ACAAGGTG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG02280.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0228 | 1 | 298 | 0.0034 | -12 | c.110 others(21): Show |
p.Leu others(13): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 8/11 | 1193/3023 | 1101/1698 | 367/565 | chr12 | TogoVar | ||
ANAPC7_chr12_110367900_110408708 | 110382457 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 298 | 0.0034 | -12 | c.935 others(27): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110382459 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG03041.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0006 | 3 | 298 | 0.0101 | -12 | c.935 others(27): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110383887 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02965.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0004others(2): Show | 5 | 298 | 0.0168 | -12 | c.818 others(27): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110387247 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0241a0001c0001t0001g0246a0001c0001t0001g0264others(4): Show | 7 | 298 | 0.0235 | -12 | c.674 others(27): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110387255 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 298 | 0.0034 | -12 | c.674 others(27): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110389081 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 298 | 0.0034 | -12 | c.409 others(27): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 3/10 | chr12 | TogoVar |