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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C3_chr19_6672704_6725650 | 6700658 | TGATATAT others(32): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0031 | a0001c0031t0002 | a0001c0031t0002g0001 | 2 | 368 | 0.0054 | -39 | c.244 others(58): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | |||||||
C3orf20_chr3_14670141_14778036 | 14733101 | CTTTTTCT others(32): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0244 | 1 | 378 | 0.0026 | -39 | c.194 others(58): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155770978 | GTGTGTGT others(32): Show |
G | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 | 1 | 404 | 0.0025 | -39 | c.323 others(56): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1136201 | AATATATA others(32): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0103 |
2 | 299 | 0.0067 | -39 | c.-2+ others(54): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87931949 | GCCTCTCT others(32): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0175 a0001c0001t0001g0177 others(43): Show |
47 | 398 | 0.1181 | -39 | c.142 others(56): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8973745 | TTTCTTTC others(32): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01891.hp1 |
a0001a0003 | a0001c0011a0003c0006 | a0001c0011t0001a0003c0006t0001 | a0001c0011t0001g0137 a0003c0006t0001g0167 |
2 | 450 | 0.0044 | -39 | c.845 others(54): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137874392 | CCTGTAGG others(32): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02647.hp1 others(1): Show |
a0001a0002a0009 | a0001c0002a0002c0001a0009c0028 | a0001c0002t0013a0002c0001t0041a0009c0028t0021 | a0001c0002t0013g0012 a0001c0002t0013g0128 a0002c0001t0041g0172 others(1): Show |
4 | 236 | 0.0169 | -39 | c.-35 others(50): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3389 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137874803 | GACGAGCT others(32): Show |
G | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0175 | 1 | 246 | 0.0041 | -39 | c.-31 others(50): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2978 | chr9 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | GGCGTAGG others(32): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 NA18959.hp2 others(1): Show |
a0001a0002a0027others(1): Show | a0001c0001a0002c0007a0027c0045others(1): Show | a0001c0001t0002a0002c0007t0010a0027c0045t0005others(1): Show | a0001c0001t0002g0194 a0002c0007t0010g0084 a0027c0045t0005g0275 others(1): Show |
4 | 214 | 0.0187 | -39 | c.300 others(56): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85336939 | AAATATAT others(32): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0115 others(41): Show |
44 | 144 | 0.3056 | -39 | c.61+ others(58): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85961201 | CAGGGGAC others(32): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0002 | 1 | 146 | 0.0068 | -39 | c.792 others(54): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48856646 | TTCATTCA others(32): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0053 | 1 | 326 | 0.0031 | -39 | c.100 others(56): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12827436 | CTTCTTTC others(32): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0105 | a0001c0001t0030g0092 a0001c0001t0105g0111 |
2 | 135 | 0.0148 | -39 | c.104 others(58): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227673 | GGGGTGTG others(32): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02559.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0014 | a0001c0001t0001a0001c0004t0018a0001c0014t0001 | a0001c0001t0001g0021 a0001c0001t0001g0078 a0001c0001t0001g0136 others(3): Show |
6 | 234 | 0.0256 | -39 | c.146 others(58): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44227695 | GCGTGAAG others(32): Show |
G | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0062 | 1 | 240 | 0.0042 | -39 | c.146 others(58): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44227728 | AGGGGTAT others(32): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG02970.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0004t0002others(4): Show | a0001c0001t0002g0076 a0001c0001t0002g0156 a0001c0001t0005g0128 others(6): Show |
9 | 235 | 0.0383 | -39 | c.146 others(58): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44227736 | ATGGGGGA others(32): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0069 | 1 | 194 | 0.0052 | -39 | c.146 others(58): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMKK1_chr17_3855315_3898053 | 3868186 | GGCGCCGT others(32): Show |
G | intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0139 | 1 | 444 | 0.0023 | -39 | c.134 others(58): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
CAMKK1_chr17_3855315_3898053 | 3868269 | GCCGTCTA others(32): Show |
G | intron_variant | MODIFIER | NA18957.hp1 NA18970.hp2 NA18986.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0003a0002c0001t0004 | a0002c0001t0003g0319 a0002c0001t0004g0056 a0002c0001t0004g0059 others(1): Show |
4 | 444 | 0.0090 | -39 | c.134 others(58): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7655606 | ATACACAC others(32): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 | 1 | 58 | 0.0172 | -39 | c.665 others(56): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004901 | GAGTTAGG others(32): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 392 | 0.0026 | -39 | c.-14 others(58): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735678 | GGGGGTTC others(32): Show |
G | intron_variant | MODIFIER | NA19083.hp1 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0207 | 1 | 339 | 0.0029 | -39 | c.158 others(56): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735718 | GGGGGTTC others(32): Show |
G | intron_variant | MODIFIER | NA19085.hp1 | a0023 | a0023c0035 | a0023c0035t0002 | a0023c0035t0002g0161 | 1 | 340 | 0.0029 | -39 | c.158 others(56): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN3_chr15_42354501_42417317 | 42410220 | TGGGATCC others(32): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0276 | 1 | 304 | 0.0033 | -39 | c.211 others(56): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 19/23 | chr15 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77099108 | GCGCTCCC others(32): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 |
a0005 | a0005c0006 | a0005c0006t0011 | a0005c0006t0011g0354 a0005c0006t0011g0355 |
2 | 380 | 0.0053 | -39 | c.297 others(56): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CARD19_chr9_93091217_93118283 | 93113285 | CCTGCCTC others(32): Show |
C | downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 356 | 0.0028 | -39 | c.*17 others(48): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 3 | chr9 | TogoVar | |||||||
CARM1_chr19_10866553_10928075 | 10871601 | GGCGGCGG others(32): Show |
G | 5_prime_UTR_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 346 | 0.0029 | -39 | c.-90 others(46): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 52 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555499 | AGAAAGAA others(32): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0047 | 1 | 328 | 0.0030 | -39 | c.196 others(56): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116555503 | AGAAAGAA others(32): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG03041.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0031 a0001c0001t0002g0040 others(2): Show |
6 | 332 | 0.0181 | -39 | c.196 others(56): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116555505 | AAAGAAAG others(32): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01361.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0223 others(5): Show |
9 | 220 | 0.0409 | -39 | c.196 others(56): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555509 | AAAGAAAG others(32): Show |
A | intron_variant | MODIFIER | HG04204.hp2 NA18960.hp2 NA18975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137 a0001c0001t0002g0032 a0001c0001t0002g0171 others(1): Show |
4 | 257 | 0.0156 | -39 | c.196 others(56): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555513 | AAAGAAAG others(32): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 295 | 0.0034 | -39 | c.196 others(56): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33643799 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 295 | 0.0034 | -39 | c.148 others(56): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88952884 | AGCATGTC others(32): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(236): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(235): Show |
239 | 282 | 0.8475 | -39 | c.151 others(58): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBR1_chr21_36065024_36078164 | 36071789 | AGTCTTTT others(32): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0030 | 1 | 428 | 0.0023 | -39 | c.398 others(54): Show |
CBR1 | ENSG00000159228.13 | transcript | ENST00000290349.11 | protein_coding | 2/2 | chr21 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658345 | AAAAAAAA others(32): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0164 | 1 | 233 | 0.0043 | -39 | c.212 others(58): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658355 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03654.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0051a0001c0001t0053 | a0001c0001t0002g0161 a0001c0001t0051g0183 a0001c0001t0053g0213 |
3 | 193 | 0.0155 | -39 | c.212 others(58): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 201001 | TGCCCCCA others(32): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0105 | 1 | 404 | 0.0025 | -39 | c.*42 others(50): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 3/3 | 4257 | chr5 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 201002 | GCCCCCAT others(32): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0104 | 1 | 241 | 0.0041 | -39 | c.*42 others(55): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 3/3 | 4256 | chr5 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 201002 | GCCCCCAT others(32): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(159): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0004a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(80): Show |
162 | 402 | 0.4030 | -39 | c.*42 others(50): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 3/3 | 4256 | chr5 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46963900 | TCTCTGCC others(32): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 a0001c0001t0001g0311 |
2 | 352 | 0.0057 | -39 | c.96+ others(56): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC169_chr13_36225775_36302814 | 36284115 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0293 | 1 | 362 | 0.0028 | -39 | c.164 others(54): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CCDC47_chr17_63740255_63778597 | 63759509 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01243.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0013 others(17): Show |
20 | 295 | 0.0678 | -39 | c.735 others(56): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
CCDC47_chr17_63740255_63778597 | 63759537 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 others(2): Show |
5 | 350 | 0.0143 | -39 | c.735 others(56): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
CCDC60_chr12_119329729_119546040 | 119507569 | TGTATATA others(32): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03540.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0178 a0001c0001t0001g0237 |
3 | 246 | 0.0122 | -39 | c.883 others(56): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 7/13 | chr12 | TogoVar | |||||||
CCDC60_chr12_119329729_119546040 | 119507571 | TATATATA others(32): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0013 | a0013c0008 | a0013c0008t0001 | a0013c0008t0001g0075 | 1 | 251 | 0.0040 | -39 | c.883 others(56): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 7/13 | chr12 | TogoVar | |||||||
CCDC61_chr19_45990467_46023616 | 46021832 | ACCCTGTC others(32): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0314 | 1 | 426 | 0.0023 | -39 | c.*34 others(50): Show |
CCDC61 | ENSG00000104983.8 | transcript | ENST00000595358.5 | protein_coding | 3217 | chr19 | TogoVar | |||||||
CCDC74A_chr2_131522888_131538666 | 131531788 | ACAAGGGC others(32): Show |
A | splice_region_variant others(1): Show |
LOW | HG02630.hp2 | a0011 | a0011c0019 | a0011c0019t0002 | a0011c0019t0002g0088 | 1 | 438 | 0.0023 | -39 | c.485 others(51): Show |
CCDC74A | ENSG00000163040.15 | transcript | ENST00000409856.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC78_chr16_717582_731443 | 720215 | ACGGGTGT others(32): Show |
A | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0005g0037 |
11 | 388 | 0.0284 | -39 | c.*24 others(50): Show |
CCDC78 | ENSG00000162004.19 | transcript | ENST00000345165.10 | protein_coding | 2366 | chr16 | TogoVar | |||||||
CCM2_chr7_44995201_45081453 | 45078777 | GGCGGTGA others(32): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp2 others(37): Show |
a0002 | a0002c0003a0002c0005a0002c0009others(2): Show | a0002c0003t0002a0002c0005t0002a0002c0009t0002others(2): Show | a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 others(37): Show |
40 | 314 | 0.1274 | -39 | c.*27 others(50): Show |
CCM2 | ENSG00000136280.17 | transcript | ENST00000258781.11 | protein_coding | 2325 | chr7 | TogoVar |