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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CALY_chr10_133319072_133341896 | 133334300 | A | ATCTGAGG others(39): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02004.hp1 HG02015.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051a0001c0001t0002g0021a0001c0001t0002g0052others(1): Show | 5 | 250 | 0.0200 | 46 | c.-21 others(63): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12694195 | T | TAATATAT others(39): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02559.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0098a0001c0002t0004others(2): Show | a0001c0001t0013g0155a0001c0001t0098g0037a0001c0002t0004g0077others(2): Show | 5 | 214 | 0.0234 | 46 | c.299 others(65): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK2D_chr4_113446032_113766738 | 113603788 | T | TGTATATA others(39): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0076 | a0001c0001t0002g0200a0001c0001t0076g0245 | 2 | 278 | 0.0072 | 46 | c.275 others(63): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 4/20 | chr4 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44410231 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01258.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0069a0001c0001t0001g0085 | 3 | 198 | 0.0152 | 46 | c.376 others(65): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0295 | 1 | 340 | 0.0029 | 46 | c.161 others(63): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736581 | A | AAGGGGCG others(39): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 342 | 0.0029 | 46 | c.136 others(61): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/20 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 384 | 0.0026 | 46 | c.-33 others(63): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG00738.hp2 NA18906.hp2 NA18939.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0137a0001c0001t0001g0181others(3): Show | 6 | 364 | 0.0165 | 46 | c.330 others(63): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366307 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0277 | 1 | 364 | 0.0028 | 46 | c.330 others(63): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25313683 | G | GCATATAT others(39): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01081.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0033a0002c0007others(2): Show | a0001c0004t0002a0001c0004t0004a0001c0033t0001others(3): Show | a0001c0004t0002g0043a0001c0004t0004g0036a0001c0004t0004g0039others(5): Show | 8 | 186 | 0.0430 | 46 | c.138 others(65): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459268 | T | TTCTTTCT others(39): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0095 | 1 | 186 | 0.0054 | 46 | c.615 others(63): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CASC3_chr17_40135537_40177171 | 40140377 | C | CACACACC others(39): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 266 | 0.0038 | 46 | c.-17 others(55): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 159 | chr17 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGA others(39): Show |
intron_variant | MODIFIER | NA19083.hp1 NA20805.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0028 | a0002c0002t0002g0243a0002c0002t0028g0250 | 2 | 314 | 0.0064 | 46 | c.-24 others(65): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(39): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0023 | 1 | 228 | 0.0044 | 46 | c.113 others(61): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACTC others(39): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0089 | 1 | 228 | 0.0044 | 46 | c.113 others(61): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACTCAC others(39): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01981.hp2 HG02132.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0110a0001c0001t0001g0115a0001c0001t0002g0114others(4): Show | 7 | 228 | 0.0307 | 46 | c.113 others(61): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74965885 | C | CACTCTCT others(39): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01069.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0145a0001c0001t0001g0150others(22): Show | 25 | 228 | 0.1097 | 46 | c.113 others(61): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26206481 | A | AAAAGAAA others(39): Show |
downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 398 | 0.0025 | 46 | c.*39 others(57): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 3518 | chr1 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26206511 | A | AAGAAAGA others(39): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 398 | 0.0025 | 46 | c.*39 others(57): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 3548 | chr1 | TogoVar | ||||||
CATSPERZ_chr11_64295358_64309770 | 64304830 | C | CGTGACCT others(39): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 NA20300.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002a0003c0003t0001g0030 | 2 | 392 | 0.0051 | 46 | c.*18 others(55): Show |
CATSPERZ | ENSG00000219435.6 | transcript | ENST00000328404.8 | protein_coding | 61 | chr11 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88930694 | T | TGGGGAGG others(39): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02970.hp1 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0214a0001c0001t0001g0223others(1): Show | 4 | 284 | 0.0141 | 46 | c.152 others(65): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88930809 | T | TGGGGGTG others(39): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02559.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0014 | a0001c0001t0001a0001c0001t0025a0001c0003t0001others(2): Show | a0001c0001t0001g0248a0001c0001t0025g0099a0001c0003t0001g0204others(3): Show | 6 | 284 | 0.0211 | 46 | c.152 others(65): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119244581 | A | ATTTTTTT others(39): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0009 | 1 | 364 | 0.0028 | 46 | c.443 others(65): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CC2D1A_chr19_13901201_13935879 | 13926045 | C | CGTATATA others(39): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0011 | a0011c0031 | a0011c0031t0001 | a0011c0031t0001g0086 | 1 | 370 | 0.0027 | 46 | c.194 others(63): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | chr19 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96025192 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0307 | 1 | 312 | 0.0032 | 46 | c.394 others(63): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCBE1_chr18_59425939_59702423 | 59573284 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03834.hp1 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0111a0001c0001t0002g0213a0001c0001t0011g0087others(1): Show | 4 | 242 | 0.0165 | 46 | c.213 others(65): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59658354 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 242 | 0.0041 | 46 | c.212 others(65): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCDC105_chr19_15005726_15028276 | 15018732 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01361.hp2 HG03209.hp1 others(6): Show |
a0001a0004a0010 | a0001c0001a0001c0004a0004c0014others(1): Show | a0001c0001t0001a0001c0004t0001a0004c0014t0001others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0004t0001g0095others(5): Show | 9 | 440 | 0.0205 | 46 | c.676 others(63): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 380 | 0.0026 | 46 | c.346 others(63): 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(39): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 380 | 0.0026 | 46 | c.346 others(63): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC13_chr3_42700756_42778253 | 42743600 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0035 | a0001c0005t0035g0107 | 1 | 320 | 0.0031 | 46 | c.826 others(61): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CCDC148_chr2_158166073_158461753 | 158433091 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 264 | 0.0038 | 46 | c.25+ others(63): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
CCDC148_chr2_158166073_158461753 | 158433091 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 264 | 0.0038 | 46 | c.25+ others(63): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
CCDC148_chr2_158166073_158461753 | 158433261 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp2 NA18949.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0004c0003t0001a0004c0003t0002others(1): Show | a0001c0001t0002g0109a0004c0003t0001g0071a0004c0003t0002g0069others(1): Show | 4 | 264 | 0.0152 | 46 | c.25+ others(63): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
CCDC150_chr2_196634715_196737801 | 196721361 | T | TATATATG others(39): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 212 | 0.0047 | 46 | c.226 others(63): Show |
CCDC150 | ENSG00000144395.18 | transcript | ENST00000389175.9 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC150_chr2_196634715_196737801 | 196721361 | T | TATATATG others(39): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02976.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019a0002c0002t0001g0022a0002c0002t0001g0027others(2): Show | 5 | 212 | 0.0236 | 46 | c.226 others(63): Show |
CCDC150 | ENSG00000144395.18 | transcript | ENST00000389175.9 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC150_chr2_196634715_196737801 | 196721361 | T | TATATATG others(39): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18992.hp1 NA19057.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0021 | 4 | 212 | 0.0189 | 46 | c.226 others(63): Show |
CCDC150 | ENSG00000144395.18 | transcript | ENST00000389175.9 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC152_chr5_42751818_42807439 | 42755283 | G | GTGTGTGT others(39): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012a0001c0001t0005g0056 | 2 | 348 | 0.0058 | 46 | c.-16 others(57): Show |
CCDC152 | ENSG00000198865.10 | transcript | ENST00000361970.10 | protein_coding | 1534 | chr5 | TogoVar | ||||||
CCDC152_chr5_42751818_42807439 | 42755283 | G | GTGTGTGT others(39): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 2 | 348 | 0.0058 | 46 | c.-16 others(57): Show |
CCDC152 | ENSG00000198865.10 | transcript | ENST00000361970.10 | protein_coding | 1534 | chr5 | TogoVar | ||||||
CCDC194_chr19_17382196_17399196 | 17382276 | A | AAGAAAGA others(39): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 46 | c.*82 others(57): Show |
CCDC194 | ENSG00000269720.3 | transcript | ENST00000636079.2 | protein_coding | 4919 | chr19 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43223459 | T | TACACACA others(39): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 334 | 0.0030 | 46 | c.480 others(59): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 3/3 | chr17 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43225680 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224a0001c0001t0002g0225 | 2 | 334 | 0.0060 | 46 | c.106 others(63): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43225693 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02165.hp2 HG02683.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024a0001c0002t0001g0048a0001c0002t0001g0073others(7): Show | 11 | 334 | 0.0329 | 46 | c.106 others(63): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CCDC30_chr1_42458286_42662190 | 42535698 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
a0004 | a0004c0011 | a0004c0011t0009 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | 324 | 0.0093 | 46 | c.457 others(61): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CCDC30_chr1_42458286_42662190 | 42535701 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0218 | 1 | 324 | 0.0031 | 46 | c.457 others(61): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CCDC30_chr1_42458286_42662190 | 42535709 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
a0002a0007 | a0002c0003a0002c0016a0007c0028 | a0002c0003t0003a0002c0003t0004a0002c0003t0005others(6): Show | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | 324 | 0.1389 | 46 | c.457 others(61): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGGGG others(39): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0037 | 1 | 372 | 0.0027 | 46 | c.-40 others(55): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56556893 | G | GTGTGTGT others(39): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 372 | 0.0027 | 46 | c.-35 others(55): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 281 | chr3 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGAGA others(39): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0120 | 1 | 288 | 0.0035 | 46 | c.303 others(65): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGAGA others(39): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 1 | 288 | 0.0035 | 46 | c.303 others(65): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar |