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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLPTM1_chr19_44950380_44998341 | 44979689 | TTCTGAGT others(18): Show |
T | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 372 | 0.0027 | -25 | c.586 others(42): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140427183 | AAATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02809.hp2 |
a0001a0002 | a0001c0015a0002c0002 | a0001c0015t0001a0002c0002t0011a0002c0002t0044 | a0001c0015t0001g0021 a0002c0002t0011g0039 a0002c0002t0044g0096 |
3 | 98 | 0.0306 | -25 | c.787 others(42): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529644 | TATATATT others(18): Show |
T | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 380 | 0.0026 | -25 | c.929 others(40): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | chr16 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 645803 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0278 a0001c0001t0002g0108 |
2 | 412 | 0.0049 | -25 | c.139 others(42): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLU_chr8_27591917_27619700 | 27593372 | AGTTACGT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG02040.hp2 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 a0001c0001t0003g0189 |
2 | 49 | 0.0408 | -25 | c.*48 others(36): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3544 | chr8 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99606717 | AGGGCGGC others(18): Show |
A | frameshift_variant | HIGH | HG02572.hp1 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0109 | 1 | 216 | 0.0046 | -25 | c.25_ others(30): Show |
p.Ala others(3): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/9 | 31/1181 | 25/1023 | 9/340 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
CMC2_chr16_80961448_81011885 | 80965195 | AAAAAAAC others(18): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0069 | 1 | 340 | 0.0029 | -25 | c.*10 others(38): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1252 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965199 | AAACATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 296 | 0.0034 | -25 | c.*10 others(38): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1248 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965221 | ATATATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0129 | a0002c0002t0129g0285 | 1 | 397 | 0.0025 | -25 | c.*10 others(38): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1226 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965227 | ATATATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0096 | 1 | 404 | 0.0025 | -25 | c.*10 others(38): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1220 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965233 | ATATATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0085 | a0002c0002t0085g0292 | 1 | 400 | 0.0025 | -25 | c.*10 others(38): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1214 | chr16 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81669018 | ACTCCTCC others(18): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0198 | 1 | 266 | 0.0038 | -25 | c.826 others(42): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172736 | AGGGAGAG others(18): Show |
A | downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 309 | 0.0032 | -25 | c.*34 others(36): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2579 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206173107 | CGGGAGAG others(18): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01981.hp2 HG01993.hp1 others(1): Show |
a0002a0007 | a0002c0003a0007c0009 | a0002c0003t0003a0007c0009t0003 | a0002c0003t0003g0001 a0002c0003t0003g0238 a0002c0003t0003g0239 others(1): Show |
4 | 318 | 0.0126 | -25 | c.*30 others(36): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2208 | chr2 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87255997 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 152 | 0.0066 | -25 | c.771 others(44): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74579181 | CTCCCTTT others(18): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG02015.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0152 a0001c0001t0002g0325 a0001c0001t0003g0119 others(5): Show |
8 | 375 | 0.0213 | -25 | c.116 others(42): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32721422 | CTTTCATC others(18): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 352 | 0.0028 | -25 | c.862 others(42): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT11_chr2_101247886_101275316 | 101252203 | AGCTCATA others(18): Show |
A | upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 376 | 0.0027 | -25 | c.-76 others(34): Show |
CNOT11 | ENSG00000158435.8 | transcript | ENST00000289382.8 | protein_coding | 682 | chr2 | TogoVar | |||||||
CNOT2_chr12_70238433_70359993 | 70265273 | TTCTTCTC others(18): Show |
T | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 84 | 0.0119 | -25 | c.-95 others(44): Show |
CNOT2 | ENSG00000111596.14 | transcript | ENST00000229195.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135472505 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 349 | 0.0029 | -25 | c.-92 others(44): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135472507 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 334 | 0.0030 | -25 | c.-92 others(44): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135472515 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 359 | 0.0028 | -25 | c.-92 others(44): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135495685 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | NA18940.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 a0001c0001t0001g0282 |
2 | 348 | 0.0057 | -25 | c.-93 others(44): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135495689 | AAAAAGAA others(18): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0310 |
2 | 345 | 0.0058 | -25 | c.-93 others(44): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT6L_chr4_77708387_77824368 | 77760860 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 6 | 0.1667 | -25 | c.401 others(42): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
CNOT6L_chr4_77708387_77824368 | 77778660 | CTCCCAAA others(18): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0092 a0001c0001t0014g0223 a0001c0001t0014g0269 |
3 | 325 | 0.0092 | -25 | c.6-2 others(38): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
CNOT6_chr5_180489379_180583358 | 180539551 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01071.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0245 a0001c0001t0001g0266 a0001c0001t0001g0279 others(30): Show |
33 | 43 | 0.7674 | -25 | c.112 others(44): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNOT7_chr8_17219966_17251857 | 17222730 | TGATCACC others(18): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0023 others(205): Show |
387 | 406 | 0.9532 | -25 | c.*79 others(36): Show |
CNOT7 | ENSG00000198791.12 | transcript | ENST00000361272.9 | protein_coding | 2235 | chr8 | TogoVar | |||||||
CNR1_chr6_88134864_88171347 | 88164569 | CGGGGGAG others(18): Show |
C | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0238 | 1 | 396 | 0.0025 | -25 | c.-64 others(42): Show |
CNR1 | ENSG00000118432.13 | transcript | ENST00000369501.3 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23905086 | TCTGGTGA others(18): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02886.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0006a0001c0001t0018a0001c0001t0037others(2): Show | a0001c0001t0006g0266 a0001c0001t0018g0268 a0001c0001t0037g0267 others(2): Show |
5 | 266 | 0.0188 | -25 | c.-46 others(42): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNRIP1_chr2_68288010_68324949 | 68297567 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01243.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0179 a0001c0001t0001g0184 others(31): Show |
38 | 96 | 0.3958 | -25 | c.331 others(42): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246585661 | AAATATAC others(18): Show |
A | intron_variant | MODIFIER | HG03688.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0125 a0002c0002t0001g0115 |
2 | 287 | 0.0070 | -25 | c.-51 others(42): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17325202 | ATATGACT others(18): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp2 others(50): Show |
a0001a0002a0004others(8): Show | a0001c0014a0001c0030a0002c0006others(14): Show | a0001c0014t0001a0001c0030t0002a0002c0006t0001others(23): Show | a0001c0014t0001g0038 a0001c0030t0002g0048 a0002c0006t0001g0029 others(50): Show |
53 | 216 | 0.2454 | -25 | c.134 others(44): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40690769 | ATTATTTT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01346.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0187 a0001c0001t0001g0218 a0001c0001t0002g0141 others(8): Show |
11 | 28 | 0.3929 | -25 | c.-18 others(36): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1669 | chr12 | TogoVar | |||||||
CNTN1_chr12_40687439_41077415 | 40983855 | ATATGCTA others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(138): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0001g0038 others(138): Show |
141 | 230 | 0.6130 | -25 | c.196 others(44): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74344396 | GGTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0108 others(80): Show |
83 | 134 | 0.6194 | -25 | c.136 others(44): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 11/22 | chr3 | TogoVar | |||||||
CNTN5_chr11_99015949_100363885 | 99187406 | AATTAATA others(18): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01169.hp1 HG01243.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0003g0060 a0001c0001t0005g0012 a0001c0001t0009g0043 others(5): Show |
8 | 66 | 0.1212 | -25 | c.-20 others(48): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245270 | TATATACA others(18): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG03239.hp1 HG03710.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0141 others(3): Show |
6 | 222 | 0.0270 | -25 | c.358 others(44): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147882767 | ACAGACAG others(18): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0001g0003 a0001c0001t0006g0009 a0001c0001t0007g0018 others(20): Show |
23 | 40 | 0.5750 | -25 | c.209 others(46): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148310907 | AGCAACCT others(18): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0030 | 1 | 40 | 0.0250 | -25 | c.347 others(46): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76408351 | CTTAACAA others(18): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02723.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0012a0002c0042others(6): Show | a0001c0001t0007a0002c0012t0002a0002c0012t0008others(7): Show | a0001c0001t0007g0003 a0002c0012t0002g0048 a0002c0012t0008g0242 others(7): Show |
10 | 249 | 0.0402 | -25 | c.391 others(44): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522687 | CTTTCTTT others(18): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG03098.hp1 others(3): Show |
a0001a0003a0009 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0005a0001c0004t0001a0003c0003t0005others(2): Show | a0001c0001t0005g0046 a0001c0001t0005g0202 a0001c0004t0001g0107 others(3): Show |
6 | 169 | 0.0355 | -25 | c.275 others(42): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124702346 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005 | a0001c0001t0005g0041 a0001c0002t0005g0045 |
2 | 4 | 0.5000 | -25 | c.207 others(46): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644696 | TATAGATA others(18): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 | 1 | 377 | 0.0027 | -25 | c.264 others(40): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164818429 | ATGTATAC others(18): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0020 | a0020c0028 | a0020c0028t0016 | a0020c0028t0016g0205 | 1 | 210 | 0.0048 | -25 | c.41+ others(42): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51263570 | CCCCACTT others(18): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0017 | a0017c0054 | a0017c0054t0004 | a0017c0054t0004g0179 | 1 | 228 | 0.0044 | -25 | c.42- others(42): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COG4_chr16_70475571_70528554 | 70483311 | TCCCTTCC others(18): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0125 | 1 | 341 | 0.0029 | -25 | c.182 others(42): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 14/18 | chr16 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69936153 | GAAGGAAG others(18): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(26): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0112 others(26): Show |
29 | 322 | 0.0901 | -25 | c.177 others(42): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98941620 | TGCACTCC others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 | a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0087 | 1 | 191 | 0.0052 | -25 | c.-24 others(36): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2286 | chr9 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45484217 | ATCTCCAG others(18): Show |
A | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 290 | 0.0034 | -25 | c.170 others(44): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |