regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | a0001c0001t0001g0119a0001c0001t0002g0166a0001c0001t0003g0278others(1): Show | 4 | 342 | 0.0117 | 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 | a0001c0001t0002g0072a0001c0001t0002g0207 | 2 | 342 | 0.0059 | 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 | a0001c0001t0001g0137a0001c0001t0001g0156a0001c0001t0002g0196others(2): Show | 5 | 342 | 0.0146 | 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 | a0001c0001t0002g0212a0001c0001t0003g0139 | 2 | 342 | 0.0059 | 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 | a0001c0001t0001g0144 | 1 | 342 | 0.0029 | 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 | 374 | 0.0027 | 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 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0004a0003c0009t0029 | a0001c0001t0004g0017a0001c0001t0004g0025a0001c0001t0004g0028others(7): Show | 10 | 298 | 0.0336 | 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 | a0001c0001t0001g0262 | 1 | 298 | 0.0034 | 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 | a0001c0001t0001g0013a0001c0009t0007g0100 | 2 | 284 | 0.0070 | 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 | 212 | 0.0047 | 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 | a0001c0001t0001g0072 | 1 | 344 | 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 | a0001c0001t0017g0273 | 1 | 364 | 0.0028 | 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 | a0001c0001t0001g0164 | 1 | 364 | 0.0028 | 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 | 412 | 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 | a0001c0001t0004g0039 | 1 | 242 | 0.0041 | 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 | a0002c0005t0001g0065 | 1 | 428 | 0.0023 | 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 | a0002c0005t0001g0336 | 1 | 428 | 0.0023 | 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 | a0002c0005t0001g0008a0002c0005t0001g0335 | 2 | 428 | 0.0047 | 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 | a0001c0001t0001g0025a0001c0001t0001g0048a0001c0001t0001g0167others(1): Show | 5 | 442 | 0.0113 | 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 | 442 | 0.0023 | 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 | a0001c0001t0001g0310a0001c0001t0002g0237 | 2 | 354 | 0.0057 | 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 | a0001c0001t0002g0195 | 1 | 354 | 0.0028 | 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 | a0001c0001t0002g0046a0001c0001t0002g0203 | 2 | 354 | 0.0057 | 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 | a0001c0001t0002g0274 | 1 | 354 | 0.0028 | 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 | a0001c0001t0002g0154 | 1 | 380 | 0.0026 | 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 | a0001c0001t0002g0184 | 1 | 380 | 0.0026 | 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 | a0001c0001t0002g0038a0001c0001t0002g0188a0001c0001t0002g0189 | 4 | 380 | 0.0105 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0042a0001c0001t0002g0050a0001c0001t0002g0052others(5): Show | 8 | 274 | 0.0292 | 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 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0014a0001c0001t0018g0015 | 2 | 274 | 0.0073 | 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 | a0001c0001t0001g0121a0001c0001t0001g0252a0001c0001t0002g0012others(30): Show | 33 | 264 | 0.1250 | 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(68): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(68): Show | 71 | 354 | 0.2006 | 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 | a0001c0001t0001g0262a0001c0001t0002g0051a0001c0001t0004g0044others(9): Show | 12 | 354 | 0.0339 | 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 | 354 | 0.0057 | 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 | a0016 | a0016c0013 | a0016c0013t0009 | a0016c0013t0009g0230 | 1 | 400 | 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 | a0001c0001t0001g0063 | 1 | 234 | 0.0043 | 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 | a0001c0002t0001g0044 | 1 | 234 | 0.0043 | 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 | a0001c0001t0001g0049 | 1 | 414 | 0.0024 | 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 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0047a0001c0001t0001g0105others(4): Show | 11 | 414 | 0.0266 | 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 | a0001c0001t0002g0030a0001c0001t0002g0205a0001c0001t0002g0206others(1): Show | 5 | 334 | 0.0150 | 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 | a0001c0002t0001g0089 | 1 | 334 | 0.0030 | 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 | a0002c0012t0002g0321 | 1 | 350 | 0.0029 | 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 | a0001c0002t0003g0254a0001c0003t0001g0278 | 2 | 378 | 0.0053 | 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 | a0001c0021t0006g0292 | 1 | 378 | 0.0027 | 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 | a0028 | a0028c0057 | a0028c0057t0001 | a0028c0057t0001g0124 | 1 | 378 | 0.0027 | 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 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0073others(117): Show | 120 | 252 | 0.4762 | 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 | a0001c0001t0002g0245 | 1 | 288 | 0.0035 | 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 | a0003c0010t0004g0004 | 1 | 372 | 0.0027 | 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 | a0001c0001t0001g0105a0001c0001t0001g0175a0001c0001t0009g0205others(2): Show | 5 | 372 | 0.0134 | 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 | a0002c0002t0002g0327 | 1 | 372 | 0.0027 | 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 | a0001c0001t0001g0034 | 1 | 430 | 0.0023 | 35 | c.-81 others(50): Show |
CCDC70 | ENSG00000123171.8 | transcript | ENST00000242819.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |