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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE5_chr6_36735775_36844444 | 36834254 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01975.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 others(7): Show |
10 | 90 | 0.1111 | 9 | c.95+ others(24): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38710268 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01358.hp2 HG01496.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0180 others(8): Show |
11 | 13 | 0.8462 | 9 | c.915 others(26): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38736234 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(52): Show |
55 | 166 | 0.3313 | 9 | c.723 others(26): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38756039 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0019 others(66): Show |
69 | 187 | 0.3690 | 9 | c.722 others(26): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38902381 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02071.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(1): Show | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(5): Show |
8 | 254 | 0.0315 | 9 | c.98+ others(24): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12740084 | A | AAAGGAAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02258.hp2 HG02280.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0165 others(16): Show |
19 | 283 | 0.0671 | 9 | c.290 others(28): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96787525 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01255.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0057 others(9): Show |
12 | 41 | 0.2927 | 9 | c.433 others(26): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01978.hp1 HG02886.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0079 a0001c0002t0001g0056 a0001c0002t0001g0060 others(3): Show |
6 | 23 | 0.2609 | 9 | c.850 others(28): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97023033 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19030.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0107 a0001c0004t0001g0114 |
2 | 124 | 0.0161 | 9 | c.962 others(26): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97122903 | A | AAAATAAA others(2): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03579.hp2 |
a0001a0004 | a0001c0007a0004c0006 | a0001c0007t0001a0004c0006t0001 | a0001c0007t0001g0038 a0004c0006t0001g0075 |
2 | 124 | 0.0161 | 9 | c.125 others(30): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97123134 | A | AAAATAAA others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19030.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 |
3 | 124 | 0.0242 | 9 | c.125 others(30): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPS1_chr2_210551599_210684107 | 210683081 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(12): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0028a0002c0002others(3): Show | a0001c0001t0010a0001c0001t0011a0001c0001t0023others(7): Show | a0001c0001t0010g0051 a0001c0001t0010g0052 a0001c0001t0010g0054 others(12): Show |
15 | 199 | 0.0754 | 9 | c.*50 others(20): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3975 | chr2 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92165854 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0116a0001c0001t0117others(2): Show | a0001c0001t0042g0244 a0001c0001t0042g0250 a0001c0001t0116g0024 others(3): Show |
6 | 80 | 0.0750 | 9 | c.*41 others(20): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 4136 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92168248 | C | CAAAAAAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01517.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019a0001c0001t0029others(16): Show | a0001c0001t0018g0010 a0001c0001t0018g0060 a0001c0001t0018g0072 others(27): Show |
30 | 108 | 0.2778 | 9 | c.*65 others(20): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 6523 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF3_chr2_9418654_9478101 | 9436774 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03239.hp1 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0019 others(1): Show |
5 | 124 | 0.0403 | 9 | c.760 others(24): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440675 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03453.hp1 NA18999.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0002 | a0001c0001t0002g0044 a0001c0001t0003g0118 a0001c0003t0002g0092 |
3 | 335 | 0.0090 | 9 | c.103 others(26): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68838572 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01496.hp1 HG02015.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(4): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 others(10): Show |
13 | 17 | 0.7647 | 9 | c.-14 others(26): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68846840 | A | ACCAGCCT others(2): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02976.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0018a0001c0001t0040a0001c0004t0041 | a0001c0001t0018g0230 a0001c0001t0018g0232 a0001c0001t0040g0231 others(1): Show |
4 | 234 | 0.0171 | 9 | c.-50 others(20): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 4925 | chr11 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29075956 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01123.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0069 others(11): Show |
14 | 25 | 0.5600 | 9 | c.610 others(26): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123744970 | T | TTTTCTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0090 others(30): Show |
33 | 286 | 0.1154 | 9 | c.*17 others(20): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 668 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123808359 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0001c0017a0002c0006others(1): Show | a0001c0001t0002a0001c0017t0001a0002c0006t0004others(2): Show | a0001c0001t0002g0036 a0001c0001t0002g0269 a0001c0017t0001g0080 others(3): Show |
6 | 177 | 0.0339 | 9 | c.654 others(26): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 4/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123822724 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02258.hp1 HG02280.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0009 | a0001c0001t0002a0001c0004t0001a0003c0009t0001 | a0001c0001t0002g0232 a0001c0004t0001g0273 a0003c0009t0001g0117 others(2): Show |
5 | 23 | 0.2174 | 9 | c.653 others(28): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 4/13 | chr10 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8599328 | A | AGATGGAG others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01346.hp1 HG02965.hp1 others(2): Show |
a0003a0005a0020others(1): Show | a0003c0003a0005c0032a0020c0063others(1): Show | a0003c0003t0003a0005c0032t0007a0020c0063t0003others(1): Show | a0003c0003t0003g0103 a0005c0032t0007g0271 a0005c0032t0007g0272 others(2): Show |
5 | 440 | 0.0114 | 9 | c.89- others(22): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207498877 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(112): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0053others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0246 a0001c0001t0001g0288 a0001c0001t0001g0289 others(111): Show |
115 | 142 | 0.8099 | 9 | c.121 others(26): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207593084 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02559.hp1 others(8): Show |
a0005a0026 | a0005c0006a0005c0008a0026c0047 | a0005c0006t0001a0005c0006t0002a0005c0008t0002others(1): Show | a0005c0006t0001g0030 a0005c0006t0001g0157 a0005c0006t0001g0186 others(8): Show |
11 | 152 | 0.0724 | 9 | c.581 others(28): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 35/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR2_chr1_207449328_207494892 | 207486230 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0001g0126 others(4): Show |
7 | 163 | 0.0429 | 9 | c.*18 others(24): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98795077 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01081.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0074 others(20): Show |
23 | 73 | 0.3151 | 9 | c.275 others(26): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
CRACDL_chr2_98788846_98941225 | 98918539 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 NA18941.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 others(8): Show |
11 | 84 | 0.1310 | 9 | c.-11 others(28): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CRACD_chr4_56044098_56335609 | 56284292 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02055.hp2 HG02056.hp2 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0005a0003c0003others(4): Show | a0001c0001t0003a0001c0001t0005a0002c0005t0022others(5): Show | a0001c0001t0003g0196 a0001c0001t0005g0180 a0002c0005t0022g0059 others(7): Show |
10 | 29 | 0.3448 | 9 | c.-17 others(28): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56314410 | C | CGGAGCGG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp2 HG02055.hp2 HG02258.hp2 others(5): Show |
a0009a0010a0012 | a0009c0015a0009c0032a0010c0017others(2): Show | a0009c0015t0006a0009c0032t0006a0010c0017t0006others(2): Show | a0009c0015t0006g0058 a0009c0015t0006g0116 a0009c0032t0006g0175 others(5): Show |
8 | 185 | 0.0432 | 9 | c.915 others(16): Show |
p.Arg others(22): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 8/11 | 1461/7044 | 924/3702 | 308/1233 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
CRACR2A_chr12_3610328_3758109 | 3733973 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00673.hp2 others(50): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(8): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(50): Show |
53 | 143 | 0.3706 | 9 | c.-38 others(26): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CRACR2A_chr12_3610328_3758109 | 3745825 | T | TAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01168.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0068 a0001c0001t0001g0069 others(5): Show |
8 | 13 | 0.6154 | 9 | c.-38 others(28): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CRACR2A_chr12_3610328_3758109 | 3745825 | T | TAAAATAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01074.hp1 others(37): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0005c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0077 a0001c0001t0001g0144 a0001c0001t0001g0147 others(37): Show |
40 | 45 | 0.8889 | 9 | c.-38 others(28): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CRB1_chr1_197263252_197483455 | 197319259 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0164 others(3): Show |
6 | 51 | 0.1176 | 9 | c.71- others(24): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB2_chr9_123351197_123383753 | 123352024 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp2 others(90): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0005a0001c0007others(16): Show | a0001c0004t0001a0001c0004t0003a0001c0004t0004others(23): Show | a0001c0004t0001g0119 a0001c0004t0001g0141 a0001c0004t0003g0004 others(61): Show |
93 | 371 | 0.2507 | 9 | c.-42 others(20): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 4172 | chr9 | TogoVar | |||||||
CRB2_chr9_123351197_123383753 | 123367421 | A | ACCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01943.hp1 HG01981.hp1 others(28): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0004a0001c0007others(3): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0003others(7): Show | a0001c0002t0001g0189 a0001c0004t0001g0119 a0001c0004t0001g0141 others(20): Show |
31 | 408 | 0.0760 | 9 | c.940 others(22): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28551874 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00735.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0048 others(41): Show |
44 | 189 | 0.2328 | 9 | c.292 others(28): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12617643 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00621.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 others(18): Show |
33 | 63 | 0.5238 | 9 | c.15+ others(24): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12626204 | C | CTAAAGAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(117): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(9): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 others(90): Show |
120 | 370 | 0.3243 | 9 | c.16- others(24): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173139956 | A | ACACAGGT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(105): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0184 a0001c0001t0002g0185 others(104): Show |
108 | 290 | 0.3724 | 9 | c.*62 others(20): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 673 | chr5 | TogoVar | |||||||
CREBZF_chr11_85652990_85670129 | 85669001 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0001g0000 a0001c0001t0008g0000 a0001c0001t0012g0000 others(1): Show |
11 | 16 | 0.6875 | 9 | c.-41 others(20): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | |||||||
CREG1_chr1_167536013_167558762 | 167540386 | T | TAGCAGCA others(2): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG02015.hp2 HG02083.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0007g0020 others(1): Show |
9 | 38 | 0.2368 | 9 | c.*19 others(20): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 626 | chr1 | TogoVar | |||||||
CREG1_chr1_167536013_167558762 | 167556733 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02055.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0119 a0001c0001t0002g0068 others(6): Show |
25 | 268 | 0.0933 | 9 | c.-29 others(20): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 2972 | chr1 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49917705 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01361.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0005a0002c0014others(2): Show | a0001c0003t0002a0002c0005t0002a0002c0014t0002others(2): Show | a0001c0003t0002g0008 a0001c0003t0002g0036 a0001c0003t0002g0153 others(11): Show |
17 | 222 | 0.0766 | 9 | c.-10 others(20): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 928 | chr22 | TogoVar | |||||||
CRIM1_chr2_36350778_36556135 | 36416209 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00741.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0003g0092 others(13): Show |
16 | 233 | 0.0687 | 9 | c.505 others(28): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20927111 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 others(30): Show |
35 | 176 | 0.1989 | 9 | c.312 others(26): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20941588 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02922.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0153 others(2): Show |
7 | 119 | 0.0588 | 9 | c.777 others(26): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1189208 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01175.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0064 others(18): Show |
21 | 41 | 0.5122 | 9 | c.*16 others(20): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1281 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1199928 | A | ACGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(20): Show | a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0057 others(91): Show |
94 | 165 | 0.5697 | 9 | c.484 others(26): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/7 | chrX | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30827140 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0291 others(6): Show |
9 | 161 | 0.0559 | 9 | c.-24 others(20): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 2449 | chr17 | TogoVar |