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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB2_chr14_93929166_93981570 | 93948637 | CCAAGAAA others(89): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 a0001c0002t0002g0141 a0001c0002t0002g0154 |
3 | 372 | 0.0081 | -96 | c.881 others(113): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 6/9 | chr14 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33269655 | CTTCCTTC others(89): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01192.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0022 a0001c0001t0004g0039 a0001c0001t0007g0233 others(4): Show |
8 | 238 | 0.0336 | -96 | c.708 others(115): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362542 | AAATATAT others(89): Show |
A | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 367 | 0.0027 | -96 | c.491 others(113): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112790073 | CGTGTAGA others(89): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(74): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(45): Show | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(74): Show |
77 | 252 | 0.3056 | -96 | c.162 others(113): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112790377 | TAGACCTA others(89): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG02622.hp1 others(13): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0021a0001c0001t0069others(12): Show | a0001c0001t0001g0065 a0001c0001t0021g0094 a0001c0001t0069g0093 others(13): Show |
16 | 252 | 0.0635 | -96 | c.162 others(113): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112840107 | CTCCAGCC others(89): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0003a0001c0002t0013others(4): Show | a0001c0001t0001g0210 a0001c0002t0003g0198 a0001c0002t0013g0118 others(4): Show |
7 | 252 | 0.0278 | -96 | c.170 others(115): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624200 | GAGAAAGA others(89): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0017 | 1 | 295 | 0.0034 | -96 | c.-34 others(107): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2631 | chr1 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79145570 | GAGAGTGA others(89): Show |
G | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0061 | 1 | 262 | 0.0038 | -96 | c.726 others(113): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79145888 | GGGGGAGC others(89): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0154 | 1 | 296 | 0.0034 | -96 | c.726 others(113): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 381288 | ACTGACCA others(89): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0111 |
2 | 176 | 0.0114 | -96 | c.299 others(113): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 381382 | TTCCTGAC others(89): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 182 | 0.0055 | -96 | c.299 others(113): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81053801 | CGCCCGGG others(89): Show |
C | intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0120 | 1 | 316 | 0.0032 | -96 | c.130 others(111): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87998873 | CATGCACG others(89): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG03098.hp2 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0160 a0001c0012t0001g0161 |
2 | 350 | 0.0057 | -96 | c.363 others(113): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87998888 | GCGGCTGT others(89): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0007 a0001c0008t0001g0109 a0001c0008t0001g0110 others(3): Show |
7 | 350 | 0.0200 | -96 | c.363 others(113): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346542 | ATATATAT others(89): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03225.hp1 HG03486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0038others(3): Show | a0001c0001t0003g0246 a0001c0001t0007g0167 a0001c0001t0038g0096 others(5): Show |
8 | 288 | 0.0278 | -96 | c.276 others(115): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63231765 | CCACCGTG others(89): Show |
C | upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 298 | 0.0034 | -96 | c.-43 others(107): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 4139 | chr20 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67843105 | TATGTAGA others(89): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 272 | 0.0037 | -96 | c.614 others(115): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430539 | CGGTCTGG others(89): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01515.hp1 HG02155.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0134 a0002c0002t0002g0168 a0002c0002t0002g0169 |
3 | 349 | 0.0086 | -96 | c.92- others(111): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431673 | CGGTCTGG others(89): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0044 a0002c0002t0019g0045 |
2 | 351 | 0.0057 | -96 | c.92- others(111): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431816 | CGGTCTGG others(89): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0136 | 1 | 351 | 0.0028 | -96 | c.92- others(111): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431843 | TCAGCAGT others(89): Show |
T | intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0169 | 1 | 305 | 0.0033 | -96 | c.92- others(111): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1432147 | CGGTCTGG others(89): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02258.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0015 | a0002c0002t0002g0169 a0002c0002t0015g0327 |
2 | 353 | 0.0057 | -96 | c.92- others(111): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C11orf21_chr11_2290628_2306918 | 2300151 | TGGGCAGG others(89): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0057 | 1 | 424 | 0.0024 | -96 | c.147 others(111): Show |
C11orf21 | ENSG00000110665.12 | transcript | ENST00000381153.8 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
C13orf42_chr13_51077119_51116274 | 51078191 | GGGGGGGT others(89): Show |
G | downstream_gene_variant | MODIFIER | HG02155.hp1 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0003g0112 |
2 | 450 | 0.0044 | -96 | c.*58 others(107): Show |
C13orf42 | ENSG00000226792.8 | transcript | ENST00000563710.7 | protein_coding | 3927 | chr13 | TogoVar | |||||||
C13orf42_chr13_51077119_51116274 | 51078202 | CCCCCCGC others(89): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(94): Show |
191 | 450 | 0.4244 | -96 | c.*58 others(107): Show |
C13orf42 | ENSG00000226792.8 | transcript | ENST00000563710.7 | protein_coding | 3916 | chr13 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1080649 | ACCCCCAC others(89): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02080.hp2 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0140 a0001c0001t0001g0294 a0001c0001t0002g0026 others(10): Show |
13 | 175 | 0.0743 | -96 | c.*21 others(107): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1173 | chr1 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117048 | GTATATAT others(89): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(48): Show |
a0003a0007a0008others(2): Show | a0003c0002a0007c0026a0008c0007others(2): Show | a0003c0002t0001a0003c0002t0003a0007c0026t0001others(3): Show | a0003c0002t0001g0241 a0003c0002t0001g0243 a0003c0002t0001g0244 others(48): Show |
51 | 188 | 0.2713 | -96 | c.152 others(115): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117117 | TATATATA others(89): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0025 | a0025c0040 | a0025c0040t0001 | a0025c0040t0001g0301 | 1 | 305 | 0.0033 | -96 | c.152 others(115): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404316 | GGGGGGGA others(89): Show |
G | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | -96 | c.*26 others(107): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1128 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404325 | GGGGTCCT others(89): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0042 | 1 | 318 | 0.0031 | -96 | c.*26 others(107): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1119 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404347 | GGGGGGGG others(89): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02300.hp1 HG02602.hp1 others(4): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0009 | a0001c0001t0001a0001c0001t0021a0001c0001t0024others(2): Show | a0001c0001t0001g0001 a0001c0001t0021g0022 a0001c0001t0024g0017 others(2): Show |
7 | 307 | 0.0228 | -96 | c.*26 others(107): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1097 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404358 | GGGGTCCT others(89): Show |
G | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0087 | 1 | 320 | 0.0031 | -96 | c.*26 others(107): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1086 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404582 | GGGTCCTG others(89): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0132 | a0001c0002t0132g0141 | 1 | 320 | 0.0031 | -96 | c.*24 others(107): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 862 | chr19 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201563373 | CCCCCCAC others(89): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 268 | 0.0037 | -96 | c.977 others(113): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 9/15 | chr2 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6700357 | TATGTAAT others(89): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG02109.hp2 others(16): Show |
a0001 | a0001c0011a0001c0014a0001c0019others(5): Show | a0001c0011t0001a0001c0014t0001a0001c0019t0001others(5): Show | a0001c0011t0001g0011 a0001c0011t0001g0013 a0001c0011t0001g0016 others(14): Show |
19 | 368 | 0.0516 | -96 | c.244 others(115): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1107863 | AGGGCTGT others(89): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 324 | 0.0031 | -96 | c.129 others(115): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1128877 | CATCACCC others(89): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0208 | 1 | 319 | 0.0031 | -96 | c.-1- others(111): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1128905 | CATCTCGG others(89): Show |
C | intron_variant | MODIFIER | HG02735.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0002g0224 |
2 | 266 | 0.0075 | -96 | c.-1- others(111): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23218301 | CTCCCGCA others(89): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0211 | 1 | 276 | 0.0036 | -96 | c.108 others(115): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218372 | GCTCCCGC others(89): Show |
G | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0197 | 1 | 207 | 0.0048 | -96 | c.108 others(115): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218396 | GTTCCCGC others(89): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0006 | a0006c0013 | a0006c0013t0045 | a0006c0013t0045g0144 | 1 | 247 | 0.0040 | -96 | c.108 others(115): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | chr18 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23218444 | CCTCCCGC others(89): Show |
C | intron_variant | MODIFIER | HG02135.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0010 | a0001c0001t0006g0046 a0002c0002t0010g0113 |
2 | 257 | 0.0078 | -96 | c.108 others(115): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218564 | CCTCCCGC others(89): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 233 | 0.0043 | -96 | c.108 others(115): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199383 | GCCCACGG others(89): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0058 | a0058c0048 | a0058c0048t0016 | a0058c0048t0016g0031 | 1 | 335 | 0.0030 | -96 | c.803 others(111): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54736013 | ATATACAC others(89): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0074 | 1 | 114 | 0.0088 | -96 | c.116 others(117): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442918 | ATATATAT others(89): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 300 | 0.0033 | -96 | c.171 others(115): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNG8_chr19_53957937_53995215 | 53962674 | AGCGGTGG others(89): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01346.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0146 a0001c0001t0001g0241 a0001c0001t0002g0001 others(16): Show |
22 | 382 | 0.0576 | -96 | c.-46 others(105): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 262 | chr19 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004873 | GAGTTAAG others(89): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0195 | 1 | 346 | 0.0029 | -96 | c.-14 others(115): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10744344 | CGGCACCA others(89): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01981.hp2 HG02109.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0037 | a0001c0001t0006a0001c0002t0001a0003c0037t0061 | a0001c0001t0006g0233 a0001c0002t0001g0112 a0003c0037t0061g0174 |
3 | 109 | 0.0275 | -96 | c.-77 others(115): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CC2D1A_chr19_13901201_13935879 | 13925932 | AAATATAT others(89): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03225.hp1 |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0002 | a0004c0005t0001g0070 a0004c0005t0002g0075 |
2 | 360 | 0.0056 | -96 | c.194 others(113): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | chr19 | TogoVar |