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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIB1_chr15_90224975_90238941 | 90238927 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008a0001c0001t0001g0023a0001c0001t0001g0039others(1): Show | 11 | 460 | 0.0239 | 5 | c.-50 others(16): Show |
CIB1 | ENSG00000185043.13 | transcript | ENST00000328649.11 | protein_coding | 4987 | chr15 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78109807 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01243.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0240a0001c0001t0001g0247a0001c0001t0001g0285others(9): Show | 13 | 390 | 0.0333 | 5 | c.199 others(20): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 3/5 | chr15 | TogoVar | ||||||
CIB3_chr19_16156368_16178525 | 16159387 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0046others(5): Show | 9 | 378 | 0.0238 | 5 | c.*20 others(16): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 1980 | chr19 | TogoVar | ||||||
CIB3_chr19_16156368_16178525 | 16175472 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00621.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(13): Show | 20 | 378 | 0.0529 | 5 | c.-19 others(16): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 1948 | chr19 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26587304 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0019a0001c0001t0001g0021others(129): Show | 132 | 344 | 0.3837 | 5 | c.329 others(22): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601217 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0304a0001c0001t0001g0324a0002c0002t0002g0002others(1): Show | 6 | 344 | 0.0174 | 5 | c.187 others(22): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIBAR1_chr8_93695550_93736527 | 93695813 | G | GAAAAA | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(16): Show | 29 | 374 | 0.0775 | 5 | c.-48 others(16): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 4736 | chr8 | TogoVar | ||||||
CIBAR1_chr8_93695550_93736527 | 93695813 | G | GCAAAA | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(5): Show | 11 | 374 | 0.0294 | 5 | c.-48 others(16): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 4736 | chr8 | TogoVar | ||||||
CIBAR1_chr8_93695550_93736527 | 93696959 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(39): Show | 63 | 374 | 0.1685 | 5 | c.-36 others(16): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 3590 | chr8 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12250533 | T | TAATAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00733.hp2 others(78): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0018others(68): Show | 81 | 448 | 0.1808 | 5 | c.-38 others(16): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3827 | chr18 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12270688 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG01106.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0031a0001c0001t0001g0032others(20): Show | 24 | 448 | 0.0536 | 5 | c.331 others(22): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CIITA_chr16_10872202_10941394 | 10893804 | T | TAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02622.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0012a0001c0001t0038a0001c0003t0070others(3): Show | a0001c0001t0012g0147a0001c0001t0038g0014a0001c0003t0070g0363others(4): Show | 8 | 392 | 0.0204 | 5 | c.53- others(20): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CILK1_chr6_52996303_53066824 | 53001989 | C | CTTATT | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 HG03130.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0017a0001c0004t0004 | a0001c0002t0017g0151a0001c0004t0004g0012a0001c0004t0004g0034 | 4 | 244 | 0.0164 | 5 | c.*31 others(16): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 14/14 | 3159 | chr6 | TogoVar | |||||
CILP_chr15_65189760_65216473 | 65200453 | C | CGTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(324): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0001c0013others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(143): Show | 327 | 332 | 0.9849 | 5 | c.118 others(24): Show |
CILP | ENSG00000138615.6 | transcript | ENST00000261883.6 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
CINP_chr14_102343282_102367890 | 102361641 | A | AAAAAC | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0065a0001c0001t0002g0036others(8): Show | 20 | 420 | 0.0476 | 5 | c.7+1 others(18): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAA | intron_variant | MODIFIER | HG01070.hp1 HG04184.hp1 NA19000.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0341a0002c0002t0001g0031a0002c0002t0001g0032others(1): Show | 4 | 372 | 0.0108 | 5 | c.232 others(22): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174356526 | A | AGGAAG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(77): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0019a0001c0001t0001g0047a0001c0001t0001g0048others(75): Show | 80 | 348 | 0.2299 | 5 | c.485 others(22): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174362366 | A | ATAACT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(92): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0042others(87): Show | 95 | 348 | 0.2730 | 5 | c.485 others(24): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174377824 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp1 others(40): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(40): Show | 43 | 348 | 0.1236 | 5 | c.484 others(22): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIROP_chr14_23094062_23109989 | 23103567 | T | TAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(205): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0016a0001c0023others(10): Show | a0001c0001t0001a0001c0016t0001a0001c0023t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(27): Show | 208 | 450 | 0.4622 | 5 | c.604 others(18): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 4/15 | chr14 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102868072 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00597.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0048a0001c0001t0003g0050a0001c0001t0004g0007others(13): Show | 32 | 354 | 0.0904 | 5 | c.-10 others(16): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 919 | chr4 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102893281 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG01515.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0002g0005a0001c0001t0002g0011a0001c0001t0002g0016others(6): Show | 13 | 354 | 0.0367 | 5 | c.*58 others(16): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 475 | chr4 | TogoVar | ||||||
CISD3_chr17_38725341_38740605 | 38733213 | G | GCCTGC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(66): Show | 264 | 411 | 0.6423 | 5 | c.205 others(18): Show |
CISD3 | ENSG00000277972.2 | transcript | ENST00000613478.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CITED2_chr6_139366807_139379648 | 139371371 | A | AAAGAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(127): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0018others(18): Show | 130 | 322 | 0.4037 | 5 | c.*17 others(16): Show |
CITED2 | ENSG00000164442.11 | transcript | ENST00000367651.4 | protein_coding | 435 | chr6 | TogoVar | ||||||
CITED4_chr1_40856054_40867363 | 40863241 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(151): Show |
a0002a0005a0007 | a0002c0002a0002c0010a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0008others(5): Show | a0002c0002t0002g0000a0002c0002t0005g0000a0002c0002t0008g0000others(5): Show | 154 | 440 | 0.3500 | 5 | c.-11 others(16): Show |
CITED4 | ENSG00000179862.7 | transcript | ENST00000372638.4 | protein_coding | 879 | chr1 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119716378 | C | CAAAAA | intron_variant | MODIFIER | HG02717.hp1 HG03130.hp1 HG03130.hp2 others(3): Show |
a0001a0003 | a0001c0003a0001c0013a0001c0017others(1): Show | a0001c0003t0003a0001c0013t0003a0001c0017t0003others(1): Show | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025others(3): Show | 6 | 236 | 0.0254 | 5 | c.416 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119745374 | C | CAAAAA | intron_variant | MODIFIER | HG02630.hp1 HG03130.hp1 HG03453.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0005a0001c0006t0027a0001c0009t0009others(1): Show | a0001c0001t0005g0020a0001c0006t0027g0234a0001c0009t0009g0039others(2): Show | 5 | 236 | 0.0212 | 5 | c.290 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119787730 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(65): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(65): Show | 68 | 236 | 0.2881 | 5 | c.129 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119829344 | A | AAGAAG | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01109.hp2 others(17): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(13): Show | a0001c0001t0001g0010a0001c0001t0005g0020a0001c0002t0001g0058others(17): Show | 20 | 236 | 0.0848 | 5 | c.753 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119862808 | T | TAAAAA | intron_variant | MODIFIER | HG02056.hp2 HG02451.hp2 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0017a0001c0005t0008others(2): Show | a0001c0001t0001g0226a0001c0003t0017g0060a0001c0005t0008g0215others(2): Show | 5 | 236 | 0.0212 | 5 | c.239 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | TogoVar | ||||||
CIZ1_chr9_128161065_128196572 | 128161087 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00741.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0026a0001c0001t0001g0027others(36): Show | 44 | 380 | 0.1158 | 5 | c.*51 others(16): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 4977 | chr9 | TogoVar | ||||||
CKAP4_chr12_106232881_106253020 | 106234547 | G | GCCTTT | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG02280.hp1 others(8): Show |
a0003a0011 | a0003c0003a0011c0019 | a0003c0003t0014a0003c0003t0024a0003c0003t0025others(4): Show | a0003c0003t0014g0023a0003c0003t0024g0106a0003c0003t0024g0107others(5): Show | 11 | 418 | 0.0263 | 5 | c.*44 others(16): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 3333 | chr12 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46776840 | T | TATTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(283): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(279): Show | 286 | 294 | 0.9728 | 5 | c.286 others(22): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 23/43 | chr11 | TogoVar | ||||||
CKLF_chr16_66547576_66571068 | 66551189 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02027.hp1 HG02071.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0018others(4): Show | 14 | 392 | 0.0357 | 5 | c.-15 others(16): Show |
CKLF | ENSG00000217555.13 | transcript | ENST00000264001.9 | protein_coding | 1386 | chr16 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121339131 | C | CACACA | 3_prime_UTR_variant | MODIFIER | HG01346.hp1 HG01884.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0072a0001c0009t0076 | a0001c0002t0072g0213a0001c0009t0076g0012 | 2 | 214 | 0.0094 | 5 | c.*17 others(16): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 41/41 | 1729 | chr2 | TogoVar | |||||
CLASP1_chr2_121332776_121654462 | 121479007 | A | ACACCC | intron_variant | MODIFIER | HG02896.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0098a0001c0001t0027g0099 | 2 | 214 | 0.0094 | 5 | c.713 others(22): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121479024 | A | ACACAC | intron_variant | MODIFIER | HG02723.hp2 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0017a0001c0002t0029 | a0001c0002t0017g0202a0001c0002t0029g0201 | 2 | 214 | 0.0094 | 5 | c.713 others(22): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121479037 | A | ACACAC | intron_variant | MODIFIER | HG02040.hp2 NA18975.hp1 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0105a0001c0001t0002g0110a0001c0001t0002g0126others(1): Show | 4 | 214 | 0.0187 | 5 | c.713 others(22): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121517858 | C | CTTTTT | intron_variant | MODIFIER | HG01175.hp2 HG02451.hp1 HG02559.hp2 others(6): Show |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0005a0001c0002t0011a0001c0002t0014others(4): Show | a0001c0002t0005g0146a0001c0002t0011g0176a0001c0002t0014g0020others(6): Show | 9 | 214 | 0.0421 | 5 | c.547 others(22): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 6/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121554454 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG02109.hp1 HG02897.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0002t0015a0001c0002t0021others(2): Show | a0001c0001t0002g0105a0001c0001t0002g0106a0001c0002t0015g0144others(4): Show | 7 | 214 | 0.0327 | 5 | c.196 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121555988 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG01243.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0037a0001c0002t0008a0001c0002t0009others(10): Show | a0001c0001t0037g0002a0001c0002t0008g0199a0001c0002t0008g0200others(19): Show | 22 | 214 | 0.1028 | 5 | c.196 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121581260 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02109.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0001c0002t0011a0001c0002t0030others(2): Show | a0001c0002t0005g0148a0001c0002t0011g0137a0001c0002t0011g0138others(3): Show | 6 | 214 | 0.0280 | 5 | c.195 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121593626 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02572.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0008a0001c0002t0009others(6): Show | a0001c0002t0006g0169a0001c0002t0008g0200a0001c0002t0009g0188others(9): Show | 12 | 214 | 0.0561 | 5 | c.195 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33685342 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp1 others(41): Show |
a0001a0003a0005 | a0001c0001a0001c0012a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0072others(41): Show | 44 | 278 | 0.1583 | 5 | c.547 others(20): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 5/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33695220 | A | ATTTTT | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp2 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0058a0001c0001t0003g0149a0001c0001t0003g0215others(5): Show | 8 | 278 | 0.0288 | 5 | c.274 others(22): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 2/38 | chr3 | TogoVar | ||||||
CLCA2_chr1_86419171_86461553 | 86419191 | T | TAAAAC | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00735.hp1 others(43): Show |
a0001a0011 | a0001c0001a0011c0022 | a0001c0001t0001a0011c0022t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0044others(16): Show | 46 | 414 | 0.1111 | 5 | c.-50 others(16): Show |
CLCA2 | ENSG00000137975.8 | transcript | ENST00000370565.5 | protein_coding | 4979 | chr1 | TogoVar | ||||||
CLCC1_chr1_108924505_108968484 | 108961284 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00639.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(7): Show | a0001c0001t0001g0029a0001c0001t0001g0045a0001c0001t0001g0149others(17): Show | 26 | 394 | 0.0660 | 5 | c.-12 others(22): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
CLCF1_chr11_67359168_67378598 | 67370506 | G | GAGCTA | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp2 HG06807.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023a0001c0001t0002g0074a0001c0001t0002g0075others(2): Show | 6 | 308 | 0.0195 | 5 | c.17- others(20): Show |
CLCF1 | ENSG00000175505.11 | transcript | ENST00000312438.8 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
CLCN1_chr7_143311111_143357083 | 143345823 | T | TCTGGG | intron_variant | MODIFIER | HG01074.hp1 NA20300.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0210a0001c0004t0001g0040a0001c0004t0001g0346 | 3 | 414 | 0.0073 | 5 | c.217 others(20): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169636735 | G | GTTGTT | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02451.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0043others(1): Show | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0006g0197others(13): Show | 16 | 288 | 0.0556 | 5 | c.160 others(20): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |