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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL9A2_chr1_40295489_40322286 | 40321123 | TTATATAT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | -24 | c.-39 others(35): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3838 | chr1 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825064 | AGGCTGGG others(17): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(8): Show |
a0002a0006a0027 | a0002c0008a0002c0049a0002c0050others(5): Show | a0002c0008t0001a0002c0008t0006a0002c0049t0002others(6): Show | a0002c0008t0001g0144a0002c0008t0006g0146a0002c0049t0002g0145others(7): Show | 11 | 412 | 0.0267 | -24 | c.630 others(39): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069619 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02897.hp1 NA19005.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057a0001c0001t0003g0058a0001c0001t0003g0069 | 3 | 388 | 0.0077 | -24 | c.148 others(41): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069621 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0003g0039a0001c0001t0003g0041a0001c0001t0003g0042others(13): Show | 16 | 388 | 0.0412 | -24 | c.148 others(41): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119078990 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01361.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0362a0001c0001t0006g0170a0001c0001t0006g0171others(2): Show | 5 | 388 | 0.0129 | -24 | c.149 others(43): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 315232 | TCACACAC others(17): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 NA19240.hp2 |
a0001a0004 | a0001c0005a0004c0006 | a0001c0005t0197a0004c0006t0185 | a0001c0005t0197g0009a0004c0006t0185g0313 | 2 | 366 | 0.0055 | -24 | c.*47 others(35): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1504 | chr18 | TogoVar | ||||||
COLQ_chr3_15445133_15526706 | 15502167 | GTGCAATG others(17): Show |
G | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 382 | 0.0026 | -24 | c.107 others(43): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 61959289 | CAGGAAAG others(17): Show |
C | intron_variant | MODIFIER | HG03017.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194a0001c0001t0001g0195 | 2 | 286 | 0.0070 | -24 | c.181 others(43): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMT_chr22_19936772_19974975 | 19952953 | AAAATAAA others(17): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG03130.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0003a0001c0004t0004a0001c0004t0008others(1): Show | a0001c0003t0003g0215a0001c0004t0004g0015a0001c0004t0004g0277others(4): Show | 9 | 426 | 0.0211 | -24 | c.-91 others(41): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
COP1_chr1_175939831_176212286 | 176151333 | AAGAAGGA others(17): Show |
A | intron_variant | MODIFIER | HG01884.hp2 NA18962.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022a0001c0002t0002g0029 | 2 | 300 | 0.0067 | -24 | c.763 others(41): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 176151337 | AGGAAGGA others(17): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 1 | 300 | 0.0033 | -24 | c.763 others(41): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 176151353 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 300 | 0.0033 | -24 | c.763 others(41): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
COPA_chr1_160283594_160348250 | 160318468 | TAAAAAAA others(17): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0001 | a0001c0002t0002g0165a0001c0005t0001g0012a0001c0005t0001g0058others(2): Show | 6 | 366 | 0.0164 | -24 | c.707 others(41): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 8/32 | chr1 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130513351 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01168.hp1 HG01255.hp1 others(44): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0200a0001c0001t0001g0213a0001c0001t0002g0025others(44): Show | 47 | 326 | 0.1442 | -24 | c.215 others(43): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130647003 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 326 | 0.0031 | -24 | c.323 others(41): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
COPS4_chr4_83030183_83080818 | 83071283 | TTGAATAA others(17): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 372 | 0.0027 | -24 | c.108 others(43): Show |
COPS4 | ENSG00000138663.9 | transcript | ENST00000264389.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
COPS5_chr8_67038079_67067133 | 67056650 | AAAATATA others(17): Show |
A | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 292 | 0.0034 | -24 | c.574 others(37): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67056652 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0099a0001c0001t0001g0101others(14): Show | 18 | 292 | 0.0616 | -24 | c.574 others(37): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67059622 | GTCATAGT others(17): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 292 | 0.0034 | -24 | c.144 others(39): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54326961 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0109 | 2 | 368 | 0.0054 | -24 | c.18+ others(39): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COQ3_chr6_99364401_99399195 | 99378137 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(51): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0029others(35): Show | 54 | 434 | 0.1244 | -24 | c.387 others(39): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226944726 | AGAGAGAG others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01070.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0194a0001c0001t0001g0238a0001c0001t0001g0248others(17): Show | 20 | 412 | 0.0485 | -24 | c.-10 others(41): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COQ8A_chr1_226935294_226992544 | 226978604 | TACACACC others(17): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255a0001c0001t0002g0258 | 2 | 412 | 0.0049 | -24 | c.730 others(41): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COQ8A_chr1_226935294_226992544 | 226978933 | ACCACACA others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0077 | 1 | 412 | 0.0024 | -24 | c.730 others(41): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CORO2A_chr9_98115975_98197637 | 98196783 | CTGGCCTC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0009a0001c0001t0003g0011a0001c0001t0003g0013others(7): Show | 10 | 342 | 0.0292 | -24 | c.-42 others(35): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 4147 | chr9 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68602407 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 256 | 0.0039 | -24 | c.15+ others(41): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CORO2B_chr15_68573993_68732806 | 68650355 | CTAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03490.hp1 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0043a0001c0001t0001g0066a0001c0001t0001g0125others(3): Show | 6 | 256 | 0.0234 | -24 | c.216 others(41): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68650356 | TAAAAAAA others(17): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA18960.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0006 | a0001c0001t0002g0147a0001c0003t0006g0118 | 2 | 256 | 0.0078 | -24 | c.216 others(41): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
COTL1_chr16_84560596_84623078 | 84591823 | CAAATAAA others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00621.hp2 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0026a0001c0001t0001g0057a0001c0001t0001g0058others(100): Show | 105 | 440 | 0.2386 | -24 | c.161 others(41): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
COX10_chr17_14064504_14213677 | 14182259 | AAAATAAA others(17): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0315 | 1 | 322 | 0.0031 | -24 | c.696 others(41): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COX10_chr17_14064504_14213677 | 14210395 | CTTTTTTT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01071.hp1 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0003a0001c0003t0002a0001c0004t0002others(6): Show | a0001c0001t0003g0125a0001c0001t0003g0134a0001c0001t0003g0170others(14): Show | 17 | 322 | 0.0528 | -24 | c.*31 others(35): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 1719 | chr17 | TogoVar | ||||||
COX11_chr17_54955422_54973654 | 54967034 | GCGCGCGC others(17): Show |
G | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 436 | 0.0023 | -24 | c.366 others(41): Show |
COX11 | ENSG00000166260.13 | transcript | ENST00000299335.8 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
COX6B2_chr19_55344704_55359719 | 55358511 | GGCTCCTT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(335): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(54): Show | 338 | 390 | 0.8667 | -24 | c.-39 others(35): Show |
COX6B2 | ENSG00000160471.13 | transcript | ENST00000326529.9 | protein_coding | 3793 | chr19 | TogoVar | ||||||
COX7A1_chr19_36145922_36157447 | 36151595 | AGCGCGCC others(17): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 466 | 0.0022 | -24 | c.102 others(37): Show |
COX7A1 | ENSG00000161281.11 | transcript | ENST00000292907.8 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
CPA3_chr3_148860296_148902203 | 148899547 | CAAAAAAA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0174 | 2 | 400 | 0.0050 | -24 | c.*28 others(35): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | ||||||
CPA4_chr7_130288161_130329180 | 130323895 | TTGTGTGT others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0118 | 1 | 402 | 0.0025 | -24 | c.*12 others(35): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 11/11 | 1237 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CPA6_chr8_67417038_67751360 | 67475862 | TCTTTCTT others(17): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 144 | 0.0069 | -24 | c.838 others(41): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67475875 | CTTTCTCC others(17): Show |
C | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 144 | 0.0069 | -24 | c.838 others(41): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67607169 | CTCTTCTT others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01069.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0053a0001c0001t0001g0085a0001c0001t0001g0136others(4): Show | 7 | 144 | 0.0486 | -24 | c.192 others(43): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67616501 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 144 | 0.0069 | -24 | c.192 others(41): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16905545 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01975.hp1 HG02683.hp2 |
a0027a0039a0083 | a0027c0035a0039c0076a0083c0112 | a0027c0035t0001a0039c0076t0001a0083c0112t0001 | a0027c0035t0001g0045a0039c0076t0001g0126a0083c0112t0001g0096 | 3 | 278 | 0.0108 | -24 | c.402 others(42): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16906337 | CCTTTCTT others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(10): Show |
a0006a0009a0011others(6): Show | a0006c0006a0006c0015a0009c0010others(8): Show | a0006c0006t0001a0006c0015t0002a0009c0010t0002others(8): Show | a0006c0006t0001g0220a0006c0015t0002g0263a0009c0010t0002g0208others(10): Show | 13 | 278 | 0.0468 | -24 | c.402 others(41): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16906387 | TTTCTTTC others(17): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG04199.hp1 |
a0010a0025 | a0010c0004a0025c0020 | a0010c0004t0001a0025c0020t0001 | a0010c0004t0001g0201a0025c0020t0001g0153 | 2 | 278 | 0.0072 | -24 | c.402 others(41): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16939171 | TTATTTAT others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01070.hp1 others(6): Show |
a0001a0008a0010others(4): Show | a0001c0001a0008c0009a0010c0004others(4): Show | a0001c0001t0002a0008c0009t0001a0010c0004t0001others(5): Show | a0001c0001t0002g0248a0008c0009t0001g0247a0010c0004t0001g0088others(6): Show | 9 | 278 | 0.0324 | -24 | c.279 others(41): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 22/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16944720 | TGACCTGT others(17): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01070.hp2 others(76): Show |
a0001a0002a0003others(50): Show | a0001c0001a0001c0013a0002c0017others(63): Show | a0001c0001t0002a0001c0013t0001a0002c0017t0001others(63): Show | a0001c0001t0002g0277a0001c0013t0001g0138a0002c0017t0001g0112others(76): Show | 79 | 278 | 0.2842 | -24 | c.279 others(41): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 22/41 | chr19 | TogoVar | ||||||
CPD_chr17_30373927_30474989 | 30470252 | CATACGTG others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 296 | 0.0034 | -24 | c.*54 others(35): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 264 | chr17 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92048550 | CGTGACAT others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0194 | 1 | 278 | 0.0036 | -24 | c.*36 others(35): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 10/10 | 3638 | chr10 | TogoVar | |||||
CPEB3_chr10_92041692_92296078 | 92190665 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0156 | 1 | 278 | 0.0036 | -24 | c.116 others(43): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92258625 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 278 | 0.0036 | -24 | c.-11 others(43): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121129289 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp1 others(38): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0004g0041a0002c0002t0001g0036a0002c0002t0001g0055others(38): Show | 41 | 140 | 0.2929 | -24 | c.140 others(41): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |