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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBFA2T2_chr20_33485096_33655030 | 33494273 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071a0001c0001t0003g0072 | 2 | 298 | 0.0067 | 17 | c.34+ others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33494274 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037a0001c0001t0004g0048 | 2 | 298 | 0.0067 | 17 | c.34+ others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33591179 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0025 | a0001c0001t0007g0008a0001c0001t0007g0010a0001c0001t0007g0011others(9): Show | 12 | 298 | 0.0403 | 17 | c.35- others(34): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFB_chr16_67024149_67106058 | 67066393 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02451.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0040a0001c0002t0003g0041a0001c0002t0003g0042others(4): Show | 7 | 212 | 0.0330 | 17 | c.283 others(32): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBFB_chr16_67024149_67106058 | 67092698 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 212 | 0.0047 | 17 | c.496 others(34): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBLC_chr19_44772890_44805652 | 44798293 | T | TGATCCTC others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 HG03453.hp1 others(1): Show |
a0001a0008 | a0001c0006a0001c0008a0001c0009others(1): Show | a0001c0006t0001a0001c0008t0001a0001c0009t0001others(1): Show | a0001c0006t0001g0047a0001c0008t0001g0050a0001c0009t0001g0073others(1): Show | 4 | 344 | 0.0116 | 17 | c.136 others(36): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 9/10 | chr19 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119244581 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01243.hp2 HG02015.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0001g0131a0001c0001t0001g0134a0001c0001t0001g0138others(22): Show | 25 | 364 | 0.0687 | 17 | c.443 others(36): 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(10): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 364 | 0.0028 | 17 | c.143 others(36): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBR1_chr21_36065024_36078164 | 36068047 | G | GAATCTCT others(10): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | 17 | c.-20 others(28): Show |
CBR1 | ENSG00000159228.13 | transcript | ENST00000290349.11 | protein_coding | 1976 | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36142431 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG02622.hp2 others(9): Show |
a0002a0004a0006 | a0002c0002a0004c0006a0004c0007others(1): Show | a0002c0002t0001a0004c0006t0001a0004c0007t0001others(1): Show | a0002c0002t0001g0112a0002c0002t0001g0122a0002c0002t0001g0128others(9): Show | 12 | 424 | 0.0283 | 17 | c.398 others(34): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CBR3_chr21_36130079_36151562 | 36146917 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 424 | 0.0024 | 17 | c.*40 others(26): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 356 | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36146921 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG03710.hp1 |
a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0167a0003c0008t0002g0169 | 2 | 424 | 0.0047 | 17 | c.*40 others(26): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 360 | chr21 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48073824 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02056.hp2 HG04199.hp1 NA18948.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058a0001c0001t0002g0059a0001c0001t0002g0060others(11): Show | 14 | 396 | 0.0354 | 17 | c.413 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48080919 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 396 | 0.0025 | 17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48080951 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0267 | 2 | 396 | 0.0051 | 17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48080951 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 396 | 0.0025 | 17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48080951 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 396 | 0.0025 | 17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48101948 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292a0001c0001t0001g0324 | 2 | 396 | 0.0051 | 17 | c.-71 others(26): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 471 | chr17 | TogoVar | ||||||
CBX7_chr22_39125772_39157680 | 39139893 | G | GCACTCCA others(10): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 380 | 0.0026 | 17 | c.180 others(34): Show |
CBX7 | ENSG00000100307.13 | transcript | ENST00000216133.10 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
CBY1_chr22_38651638_38678850 | 38674839 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0152a0001c0001t0001g0153others(2): Show | 5 | 384 | 0.0130 | 17 | c.*16 others(28): Show |
CBY1 | ENSG00000100211.12 | transcript | ENST00000216029.8 | protein_coding | 990 | chr22 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15484061 | A | AGTTTATA others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 344 | 0.0029 | 17 | c.247 others(34): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 95947114 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0027 | a0027c0037 | a0027c0037t0001 | a0027c0037t0001g0021 | 1 | 312 | 0.0032 | 17 | c.802 others(34): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96025170 | T | TATAAAAA others(10): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0163 | 1 | 312 | 0.0032 | 17 | c.394 others(34): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 96025172 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 312 | 0.0032 | 17 | c.394 others(34): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCBE1_chr18_59425939_59702423 | 59491835 | C | CAAACAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0031a0001c0001t0001g0056others(22): Show | 25 | 242 | 0.1033 | 17 | c.213 others(36): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59543834 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0040a0001c0001t0026g0148 | 2 | 242 | 0.0083 | 17 | c.213 others(36): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59595114 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0130a0001c0001t0009g0177 | 2 | 242 | 0.0083 | 17 | c.212 others(38): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59613886 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0239a0001c0001t0009g0164 | 2 | 242 | 0.0083 | 17 | c.212 others(36): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68853672 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02698.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0075a0001c0001t0001g0120a0001c0001t0001g0122others(1): Show | 4 | 216 | 0.0185 | 17 | c.936 others(34): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC102B_chr18_68793080_69060189 | 68911751 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 216 | 0.0046 | 17 | c.126 others(38): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC102B_chr18_68793080_69060189 | 69009924 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG04199.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0075a0001c0003t0001g0144 | 2 | 216 | 0.0093 | 17 | c.126 others(35): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC102B_chr18_68793080_69060189 | 69022223 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 216 | 0.0046 | 17 | c.143 others(38): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CCDC106_chr19_55643212_55658161 | 55652888 | G | GACGGCCC others(10): Show |
3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0008 | 1 | 412 | 0.0024 | 17 | c.*14 others(26): Show |
CCDC106 | ENSG00000173581.8 | transcript | ENST00000586790.6 | protein_coding | 5/5 | 160 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 428 | 0.0023 | 17 | c.*21 others(28): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | ||||||
CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG03516.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0300a0001c0001t0001g0306a0004c0007t0001g0076others(1): Show | 4 | 428 | 0.0094 | 17 | c.*21 others(28): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | ||||||
CCDC110_chr4_185440182_185476733 | 185443921 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 HG03239.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059a0002c0002t0002g0108 | 2 | 428 | 0.0047 | 17 | c.*15 others(28): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1260 | chr4 | TogoVar | ||||||
CCDC113_chr16_58244936_58288836 | 58269378 | G | GAAGAAAG others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG00733.hp1 others(67): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0150a0001c0001t0002g0012others(56): Show | 70 | 378 | 0.1852 | 17 | c.891 others(34): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC113_chr16_58244936_58288836 | 58278243 | A | AAAAGGAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG00733.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0015a0001c0001t0019others(3): Show | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0033others(28): Show | 36 | 378 | 0.0952 | 17 | c.892 others(32): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC125_chr5_69275175_69337801 | 69334820 | G | GAGAGAGA others(10): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0083 | 1 | 341 | 0.0029 | 17 | c.-22 others(28): Show |
CCDC125 | ENSG00000183323.13 | transcript | ENST00000396496.7 | protein_coding | 2020 | chr5 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03490.hp2 NA20905.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0073a0001c0001t0001g0092a0003c0005t0001g0081 | 3 | 354 | 0.0085 | 17 | c.97- others(34): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0302 | 2 | 354 | 0.0057 | 17 | c.97- others(34): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0045a0001c0001t0001g0151 | 4 | 354 | 0.0113 | 17 | c.97- others(34): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46962434 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 354 | 0.0028 | 17 | c.96+ others(34): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC134_chr22_41795679_41837164 | 41819963 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0056 | 1 | 380 | 0.0026 | 17 | c.565 others(34): Show |
CCDC134 | ENSG00000100147.14 | transcript | ENST00000255784.6 | protein_coding | 6/6 | chr22 | TogoVar | ||||||
CCDC134_chr22_41795679_41837164 | 41819999 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 380 | 0.0026 | 17 | c.565 others(34): Show |
CCDC134 | ENSG00000100147.14 | transcript | ENST00000255784.6 | protein_coding | 6/6 | chr22 | TogoVar | ||||||
CCDC141_chr2_178824757_179055137 | 179015065 | G | GATATATA others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0005 | a0005c0012 | a0005c0012t0002 | a0005c0012t0002g0071 | 1 | 274 | 0.0037 | 17 | c.225 others(36): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | ||||||
CCDC141_chr2_178824757_179055137 | 179027646 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20129.hp1 |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0047a0005c0012t0002 | a0001c0001t0047g0119a0005c0012t0002g0071 | 2 | 274 | 0.0073 | 17 | c.225 others(36): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | ||||||
CCDC144A_chr17_16685241_16782881 | 16711136 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01952.hp1 HG02683.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0110a0001c0001t0001g0118others(8): Show | 11 | 318 | 0.0346 | 17 | c.157 others(34): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CCDC144A_chr17_16685241_16782881 | 16718832 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0304a0002c0002t0004g0311 | 2 | 318 | 0.0063 | 17 | c.171 others(36): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CCDC144A_chr17_16685241_16782881 | 16753433 | T | TTGTTGTT others(10): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02273.hp2 HG02738.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0249a0002c0002t0003g0255a0002c0002t0003g0271others(5): Show | 8 | 318 | 0.0252 | 17 | c.337 others(36): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |