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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02165.hp2 NA19083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0124 a0001c0001t0002g0146 a0001c0001t0003g0209 others(1): Show |
4 | 122 | 0.0328 | 35 | c.195 others(52): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0080 |
2 | 120 | 0.0167 | 35 | c.195 others(52): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02083.hp1 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0010 a0001c0001t0001g0141 a0001c0001t0002g0001 others(2): Show |
5 | 123 | 0.0407 | 35 | c.195 others(52): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0188 a0001c0001t0003g0128 |
2 | 120 | 0.0167 | 35 | c.195 others(52): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 119 | 0.0084 | 35 | c.195 others(52): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116498923 | A | ACACACAC others(28): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 68 | 0.0147 | 35 | c.-85 others(44): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33545010 | T | TAGAACAG others(28): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01496.hp1 HG01952.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0004a0002c0009t0029 | a0001c0001t0004g0017 a0001c0001t0004g0025 a0001c0001t0004g0028 others(7): Show |
10 | 244 | 0.0410 | 35 | c.34+ others(52): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 68 | 0.0147 | 35 | c.510 others(52): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88936408 | C | CATCCACC others(28): Show |
intron_variant | MODIFIER | HG02559.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0007 | a0001c0001t0001g0074 a0001c0009t0007g0099 |
2 | 282 | 0.0071 | 35 | c.152 others(54): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67080287 | T | TGAGGAGA others(28): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 210 | 0.0048 | 35 | c.400 others(52): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44781640 | G | GGGGCCTG others(28): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 342 | 0.0029 | 35 | c.657 others(50): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119264388 | T | TTTCTCTT others(28): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0272 | 1 | 151 | 0.0066 | 35 | c.444 others(52): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119283625 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 32 | 0.0313 | 35 | c.143 others(54): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBY3_chr5_179673560_179686034 | 179685722 | T | TTTTGTAT others(28): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 410 | 0.0024 | 35 | c.-48 others(46): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 4689 | chr5 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59595114 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 164 | 0.0061 | 35 | c.212 others(56): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(28): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0070 | 1 | 63 | 0.0159 | 35 | c.*21 others(46): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(28): Show |
downstream_gene_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0337 | 1 | 63 | 0.0159 | 35 | c.*21 others(46): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(28): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 NA19000.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0009 a0002c0005t0001g0336 |
2 | 64 | 0.0313 | 35 | c.*21 others(46): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | |||||||
CCDC122_chr13_43831352_43884740 | 43879768 | G | GTGAGGCG others(28): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0167 others(1): Show |
5 | 371 | 0.0135 | 35 | c.-33 others(44): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 29 | chr13 | TogoVar | |||||||
CCDC122_chr13_43831352_43884740 | 43879800 | A | AGGCGGGG others(28): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 367 | 0.0027 | 35 | c.-37 others(44): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 61 | chr13 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0310 a0001c0001t0002g0241 |
2 | 44 | 0.0455 | 35 | c.97- others(52): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 43 | 0.0233 | 35 | c.97- others(52): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 a0001c0001t0002g0205 |
2 | 44 | 0.0455 | 35 | c.97- others(52): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 43 | 0.0233 | 35 | c.97- others(52): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 292 | 0.0034 | 35 | c.346 others(52): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 292 | 0.0034 | 35 | c.346 others(52): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18956.hp1 NA18978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0187 a0001c0001t0002g0188 |
4 | 295 | 0.0136 | 35 | c.346 others(52): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC141_chr2_178824757_179055137 | 179015079 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01515.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0002g0042 others(5): Show |
8 | 240 | 0.0333 | 35 | c.225 others(54): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | |||||||
CCDC141_chr2_178824757_179055137 | 179015079 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0014 a0001c0001t0017g0015 |
2 | 234 | 0.0085 | 35 | c.225 others(54): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158209905 | A | ATTTTGTA others(28): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01167.hp1 HG01261.hp1 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0015a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0120 a0001c0001t0001g0252 a0001c0001t0002g0012 others(30): Show |
33 | 262 | 0.1260 | 35 | c.137 others(56): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 11/13 | chr2 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(28): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(67): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0051 others(65): Show |
70 | 187 | 0.3743 | 35 | c.48+ others(50): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(28): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0259 a0001c0001t0002g0054 a0001c0001t0004g0047 others(9): Show |
12 | 129 | 0.0930 | 35 | c.48+ others(50): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(28): Show |
intron_variant | MODIFIER | HG02258.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 2 | 119 | 0.0168 | 35 | c.48+ others(50): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CCDC187_chr9_136244973_136309094 | 136308455 | C | CACACAGA others(28): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0014 | a0014c0013 | a0014c0013t0008 | a0014c0013t0008g0229 | 1 | 398 | 0.0025 | 35 | c.-46 others(46): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 4362 | chr9 | TogoVar | |||||||
CCDC192_chr5_127698391_127946507 | 127884342 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 111 | 0.0090 | 35 | c.535 others(52): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC192_chr5_127698391_127946507 | 127921087 | A | AGAAAGGA others(28): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 148 | 0.0068 | 35 | c.536 others(54): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC194_chr19_17382196_17399196 | 17382272 | A | AAAGAAAG others(28): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 382 | 0.0026 | 35 | c.*82 others(46): Show |
CCDC194 | ENSG00000269720.3 | transcript | ENST00000636079.2 | protein_coding | 4923 | chr19 | TogoVar | |||||||
CCDC194_chr19_17382196_17399196 | 17382276 | A | AAAGAAAG others(28): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00597.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0003a0004c0007t0003 | a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0044 others(4): Show |
11 | 165 | 0.0667 | 35 | c.*82 others(46): Show |
CCDC194 | ENSG00000269720.3 | transcript | ENST00000636079.2 | protein_coding | 4919 | chr19 | TogoVar | |||||||
CCDC200_chr17_43216420_43233623 | 43225677 | A | AAGTATAT others(28): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0200 a0001c0001t0002g0201 others(1): Show |
5 | 202 | 0.0248 | 35 | c.106 others(52): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CCDC200_chr17_43216420_43233623 | 43225693 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 204 | 0.0049 | 35 | c.106 others(52): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CCDC38_chr12_95862048_95947614 | 95908443 | A | AAGAGGGG others(28): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0316 | 1 | 253 | 0.0040 | 35 | c.305 others(52): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | |||||||
CCDC40_chr17_80031642_80105613 | 80056016 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18983.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0001 | a0001c0002t0003g0258 a0001c0003t0001g0175 |
2 | 23 | 0.0870 | 35 | c.116 others(54): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80056016 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0021 | a0001c0021t0006 | a0001c0021t0006g0309 | 1 | 22 | 0.0455 | 35 | c.116 others(54): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80090346 | A | ACACGGGA others(28): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0025 | a0025c0057 | a0025c0057t0001 | a0025c0057t0001g0123 | 1 | 124 | 0.0081 | 35 | c.283 others(52): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 17/19 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82190091 | T | TATAGAGT others(28): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(117): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0027a0004c0007others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0027t0001others(10): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 others(117): Show |
120 | 250 | 0.4800 | 35 | c.852 others(52): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 6/18 | chr17 | TogoVar | |||||||
CCDC63_chr12_110841987_110912535 | 110858110 | T | TATAAAAT others(28): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 83 | 0.0120 | 35 | c.180 others(50): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGGGG others(28): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0010 | a0003c0010t0004 | a0003c0010t0004g0006 | 1 | 109 | 0.0092 | 35 | c.-40 others(44): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGTGT others(28): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 NA18956.hp2 NA18999.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0031a0004c0011 | a0001c0001t0001a0001c0001t0009a0001c0031t0001others(1): Show | a0001c0001t0001g0106 a0001c0001t0001g0152 a0001c0001t0009g0175 others(2): Show |
5 | 113 | 0.0442 | 35 | c.-40 others(44): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGTGTGT others(28): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 | 1 | 109 | 0.0092 | 35 | c.-40 others(44): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC70_chr13_51856969_51871232 | 51862968 | T | TCAAGTGT others(28): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 428 | 0.0023 | 35 | c.-81 others(50): Show |
CCDC70 | ENSG00000123171.8 | transcript | ENST00000242819.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |