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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0056 | 1 | 13 | 0.0769 | 45 | c.438 others(64): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004727 | A | AGGGGAGT others(38): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0074 | 1 | 375 | 0.0027 | 45 | c.-14 others(64): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79005167 | A | AGGAGAGG others(38): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0196 | 1 | 385 | 0.0026 | 45 | c.-14 others(64): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(38): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 157 | 0.0064 | 45 | c.193 others(62): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182252 | C | CCACACTC others(38): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01255.hp1 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 others(1): Show |
7 | 258 | 0.0271 | 45 | c.193 others(62): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735767 | G | GGGGGCGG others(38): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0079 | 1 | 269 | 0.0037 | 45 | c.158 others(62): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735843 | G | GGGGCGGG others(38): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 323 | 0.0031 | 45 | c.158 others(62): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544825 | C | CCTCCCCC others(38): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0350 | 1 | 240 | 0.0042 | 45 | c.-22 others(62): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380751 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0206 | 1 | 100 | 0.0100 | 45 | c.310 others(62): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25450980 | T | TCCTCTCC others(38): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0155 | 1 | 141 | 0.0071 | 45 | c.614 others(60): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CASP10_chr2_201178141_201226665 | 201217635 | G | GTCGAAGA others(38): Show |
conservative_inframe_insertion | MODERATE | HG01884.hp1 | a0004 | a0004c0013 | a0004c0013t0016 | a0004c0013t0016g0173 | 1 | 320 | 0.0031 | 45 | c.146 others(54): Show |
p.Arg others(13): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 10/10 | 1685/5668 | 1510/1569 | 504/522 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
CASR_chr3_122178668_122296629 | 122252446 | A | AAAGAAAG others(38): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0284 | 1 | 309 | 0.0032 | 45 | c.-24 others(64): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33544985 | T | TAGAACAG others(38): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021 | 1 | 292 | 0.0034 | 45 | c.34+ others(62): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88909507 | C | CGCCACTG others(38): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(3): Show | a0001c0003t0001g0165 a0001c0003t0001g0190 a0001c0003t0001g0246 others(7): Show |
10 | 282 | 0.0355 | 45 | c.152 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88909579 | G | GGCGGCTG others(38): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02886.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0012a0001c0005t0028 | a0001c0001t0001g0073 a0001c0005t0012g0237 a0001c0005t0028g0196 |
3 | 201 | 0.0149 | 45 | c.152 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01257.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0262 a0001c0001t0002g0263 a0001c0001t0020g0259 others(1): Show |
4 | 257 | 0.0156 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 254 | 0.0039 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0051 |
2 | 255 | 0.0078 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0172 a0001c0002t0001g0102 |
2 | 255 | 0.0078 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0022 | a0001c0022t0008 | a0001c0022t0008g0201 | 1 | 254 | 0.0039 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975140 | C | CAGCCATA others(38): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 263 | 0.0038 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975155 | T | TCCACCCT others(38): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18983.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0274 a0001c0001t0001g0275 |
3 | 167 | 0.0180 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975165 | C | CCCTCTCT others(38): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 270 | 0.0037 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975210 | C | CCCTCTCT others(38): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 191 | 0.0052 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975228 | C | CAGCCATA others(38): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0198 |
2 | 270 | 0.0074 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119283625 | C | CTTTTTTT others(38): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 32 | 0.0313 | 45 | c.143 others(64): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59565295 | T | TGTTCAGA others(38): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0081 others(74): Show |
77 | 240 | 0.3208 | 45 | c.213 others(64): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC122_chr13_43831352_43884740 | 43879768 | G | GTGAGGCG others(38): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | 369 | 0.0081 | 45 | c.-33 others(54): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 29 | chr13 | TogoVar | |||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 292 | 0.0034 | 45 | c.346 others(62): 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(38): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 292 | 0.0034 | 45 | c.346 others(62): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC148_chr2_158166073_158461753 | 158433091 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0095 | 1 | 66 | 0.0152 | 45 | c.25+ others(62): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158433091 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 66 | 0.0152 | 45 | c.25+ others(62): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(38): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02004.hp1 HG02293.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0147 a0001c0001t0002g0135 a0001c0001t0005g0295 others(11): Show |
14 | 131 | 0.1069 | 45 | c.48+ others(60): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(38): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01981.hp1 others(5): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0008g0036 others(5): Show |
8 | 125 | 0.0640 | 45 | c.48+ others(60): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CCDC18_chr1_93175724_93283730 | 93282462 | C | CATATATA others(38): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(49): Show |
a0003a0010a0012 | a0003c0003a0010c0013a0012c0014 | a0003c0003t0002a0010c0013t0002a0012c0014t0002 | a0003c0003t0002g0003 a0003c0003t0002g0085 a0003c0003t0002g0086 others(48): Show |
52 | 170 | 0.3059 | 45 | c.*39 others(56): Show |
CCDC18 | ENSG00000122483.18 | transcript | ENST00000690025.1 | protein_coding | 3733 | chr1 | TogoVar | |||||||
CCDC192_chr5_127698391_127946507 | 127921087 | A | AGAAAGGA others(38): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 148 | 0.0068 | 45 | c.536 others(64): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43225677 | A | AAGTATAT others(38): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0034 a0001c0001t0002g0035 others(2): Show |
9 | 206 | 0.0437 | 45 | c.106 others(62): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CCDC200_chr17_43216420_43233623 | 43225693 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 204 | 0.0049 | 45 | c.106 others(62): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CCDC38_chr12_95862048_95947614 | 95908636 | A | AGAGGGAG others(38): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01981.hp1 HG02451.hp1 |
a0001a0007 | a0001c0001a0001c0005a0007c0015 | a0001c0001t0001a0001c0005t0001a0007c0015t0001 | a0001c0001t0001g0150 a0001c0005t0001g0067 a0007c0015t0001g0043 |
3 | 54 | 0.0556 | 45 | c.305 others(62): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGGGG others(38): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 109 | 0.0092 | 45 | c.-40 others(54): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGTGT others(38): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG02155.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0034a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0034t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0026 others(5): Show |
8 | 116 | 0.0690 | 45 | c.-40 others(54): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGTGTGT others(38): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG03209.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0157 a0001c0001t0003g0144 a0002c0002t0003g0212 |
3 | 111 | 0.0270 | 45 | c.-40 others(54): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56597777 | G | GTTTTTTT others(38): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238 | 1 | 11 | 0.0909 | 45 | c.140 others(64): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882204 | G | GGAAAGCC others(38): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 281 | 0.0036 | 45 | c.303 others(64): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC7_chr10_32441140_32887864 | 32828461 | A | AGAAGAAG others(38): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0192 | 1 | 274 | 0.0036 | 45 | c.326 others(64): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC7_chr10_32441140_32887864 | 32828461 | A | AGAAGAAG others(38): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0168 | 1 | 274 | 0.0036 | 45 | c.326 others(64): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC7_chr10_32441140_32887864 | 32828461 | A | AGAAGAAG others(38): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0196 | 1 | 274 | 0.0036 | 45 | c.326 others(64): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC7_chr10_32441140_32887864 | 32830086 | A | AATATATA others(38): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0276 | 1 | 366 | 0.0027 | 45 | c.326 others(64): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55367528 | G | GTTTTTTT others(38): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02809.hp2 HG03453.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0158 others(5): Show |
8 | 20 | 0.4000 | 45 | c.403 others(62): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 5/32 | chr2 | TogoVar | |||||||
CCDC89_chr11_85678848_85691195 | 85682806 | G | GGATTACC others(38): Show |
downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 452 | 0.0022 | 45 | c.*21 others(56): Show |
CCDC89 | ENSG00000179071.5 | transcript | ENST00000316398.5 | protein_coding | 1041 | chr11 | TogoVar |