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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 470 | 0.0021 | 14 | c.*31 others(25): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8857261 | C | CTGTTTTT others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00733.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0032a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0032g0402a0001c0002t0001g0037a0001c0002t0002g0030others(11): Show | 14 | 470 | 0.0298 | 14 | c.281 others(31): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTG others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 470 | 0.0021 | 14 | c.281 others(31): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18982.hp1 NA18986.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0002t0003 | a0001c0001t0003g0060a0001c0001t0003g0223a0001c0001t0012g0410others(2): Show | 5 | 470 | 0.0106 | 14 | c.281 others(31): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01943.hp1 NA18980.hp1 NA18988.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0070a0001c0001t0001g0377others(2): Show | 5 | 470 | 0.0106 | 14 | c.-7- others(29): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10919860 | T | TTGCTGGG others(7): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0007 | a0003c0007t0017 | a0003c0007t0017g0069 | 1 | 354 | 0.0028 | 14 | c.110 others(29): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 9/15 | chr19 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25281136 | G | GCGCGCGC others(7): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18998.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002a0001c0003t0003 | a0001c0001t0003g0054a0001c0003t0002g0052a0001c0003t0003g0053 | 3 | 186 | 0.0161 | 14 | c.40+ others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25281136 | G | GCGCGCGC others(7): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0004a0001c0012 | a0001c0004t0004a0001c0012t0006 | a0001c0004t0004g0121a0001c0012t0006g0118a0001c0012t0006g0119others(1): Show | 4 | 186 | 0.0215 | 14 | c.40+ others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25281136 | G | GCGCGCGC others(7): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 186 | 0.0054 | 14 | c.40+ others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25293265 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01192.hp2 HG03942.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0058a0001c0003t0002g0057a0001c0003t0002g0082others(2): Show | 5 | 186 | 0.0269 | 14 | c.138 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25332742 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 186 | 0.0054 | 14 | c.138 others(33): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25332771 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0183 | 1 | 186 | 0.0054 | 14 | c.138 others(33): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25364572 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 186 | 0.0054 | 14 | c.139 others(33): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25441333 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0008 | a0008c0035 | a0008c0035t0004 | a0008c0035t0004g0107 | 1 | 186 | 0.0054 | 14 | c.371 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25441335 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02738.hp1 |
a0001 | a0001c0003a0001c0029 | a0001c0003t0004a0001c0029t0006 | a0001c0003t0004g0022a0001c0029t0006g0129 | 2 | 186 | 0.0108 | 14 | c.371 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02135.hp1 NA21309.hp2 |
a0001 | a0001c0008a0001c0009 | a0001c0008t0010a0001c0009t0002 | a0001c0008t0010g0148a0001c0009t0002g0025 | 2 | 186 | 0.0108 | 14 | c.371 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATATATGT others(7): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0003 | a0003c0024 | a0003c0024t0008 | a0003c0024t0008g0019 | 1 | 186 | 0.0054 | 14 | c.371 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATATGTGT others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02148.hp2 HG02486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0008a0001c0004t0006others(1): Show | a0001c0001t0001g0051a0001c0002t0008g0026a0001c0004t0006g0027others(1): Show | 4 | 186 | 0.0215 | 14 | c.371 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 NA18943.hp1 others(4): Show |
a0001a0012 | a0001c0001a0001c0003a0012c0026 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0003g0054a0001c0001t0003g0064a0001c0001t0005g0095others(4): Show | 7 | 186 | 0.0376 | 14 | c.371 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25459207 | A | ACTTTTTC others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0085 | 1 | 186 | 0.0054 | 14 | c.615 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25459268 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02970.hp1 NA18998.hp2 |
a0001a0002a0005 | a0001c0003a0002c0028a0005c0030 | a0001c0003t0003a0002c0028t0003a0005c0030t0005 | a0001c0003t0003g0053a0002c0028t0003g0038a0005c0030t0005g0159 | 3 | 186 | 0.0161 | 14 | c.615 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25529755 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG03942.hp2 |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0014 | a0001c0004t0004g0023a0001c0004t0014g0150a0001c0004t0014g0178 | 3 | 186 | 0.0161 | 14 | c.206 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARNS1_chr11_67410678_67430604 | 67424861 | C | CCACACAC others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01496.hp2 others(14): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0012a0001c0003t0013a0001c0003t0027others(7): Show | a0001c0003t0012g0003a0001c0003t0012g0019a0001c0003t0013g0019others(11): Show | 17 | 346 | 0.0491 | 14 | c.*27 others(23): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 10/10 | 292 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CARS2_chr13_110636417_110711116 | 110649931 | C | CTGTTTTT others(7): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 372 | 0.0027 | 14 | c.105 others(33): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 10/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110649931 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0010 | a0010c0018 | a0010c0018t0002 | a0010c0018t0002g0266 | 1 | 372 | 0.0027 | 14 | c.105 others(33): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 10/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110679650 | C | CGGGGAGG others(7): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0286 | 1 | 372 | 0.0027 | 14 | c.656 others(31): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140317 | A | AACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0191 | 2 | 266 | 0.0075 | 14 | c.-23 others(23): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 219 | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140344 | A | ACACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0182a0001c0001t0001g0183 | 3 | 266 | 0.0113 | 14 | c.-20 others(23): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 192 | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140373 | A | AACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 266 | 0.0038 | 14 | c.-17 others(23): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 163 | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140375 | C | CACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 266 | 0.0038 | 14 | c.-17 others(23): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 161 | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140379 | C | CACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 NA18954.hp1 NA18963.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0069a0001c0001t0001g0073others(2): Show | 5 | 266 | 0.0188 | 14 | c.-17 others(23): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 157 | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40172969 | T | TTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03579.hp1 NA21309.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0005 | a0001c0001t0001g0239a0001c0001t0001g0248a0004c0005t0005g0014 | 3 | 266 | 0.0113 | 14 | c.*25 others(25): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 799 | chr17 | TogoVar | ||||||
CASD1_chr7_94504809_94562019 | 94559276 | C | CTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 398 | 0.0025 | 14 | c.*35 others(25): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 2258 | chr7 | TogoVar | ||||||
CASD1_chr7_94504809_94562019 | 94559308 | G | GTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0091 | 1 | 398 | 0.0025 | 14 | c.*35 others(25): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 2290 | chr7 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41710081 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01433.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0019 | a0001c0001t0001g0053a0001c0001t0001g0058a0001c0001t0001g0086others(4): Show | 7 | 164 | 0.0427 | 14 | c.429 others(33): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41829696 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0117 | 2 | 164 | 0.0122 | 14 | c.172 others(33): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41869812 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02083.hp1 HG02132.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0040a0001c0001t0001g0122others(5): Show | 8 | 164 | 0.0488 | 14 | c.60- others(31): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASP1_chr11_105020508_105040144 | 105035618 | G | GTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01099.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0001 | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0020others(1): Show | 7 | 398 | 0.0176 | 14 | c.-50 others(23): Show |
CASP1 | ENSG00000137752.25 | transcript | ENST00000533400.6 | protein_coding | 475 | chr11 | TogoVar | ||||||
CASP2_chr7_143283351_143312696 | 143291780 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01346.hp1 HG02257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0011others(2): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0002g0072others(3): Show | 6 | 246 | 0.0244 | 14 | c.225 others(28): Show |
CASP2 | ENSG00000106144.20 | transcript | ENST00000310447.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASP3_chr4_184622696_184654447 | 184631542 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG01261.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0021 | a0001c0001t0002g0009a0001c0001t0002g0015a0001c0001t0002g0167others(6): Show | 16 | 366 | 0.0437 | 14 | c.483 others(29): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | ||||||
CASP3_chr4_184622696_184654447 | 184631542 | T | TTAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 2 | 366 | 0.0055 | 14 | c.483 others(29): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | ||||||
CASP4_chr11_104937866_104973574 | 104950797 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02451.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0082a0001c0001t0001g0128others(1): Show | 5 | 358 | 0.0140 | 14 | c.546 others(29): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 4/8 | chr11 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706129 | T | TTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG03453.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0007a0001c0002t0006others(1): Show | a0001c0001t0003g0073a0001c0001t0003g0114a0001c0001t0007g0029others(3): Show | 9 | 416 | 0.0216 | 14 | c.-27 others(25): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2685 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706131 | T | TTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG02523.hp1 HG02523.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0027 | 8 | 416 | 0.0192 | 14 | c.-27 others(25): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2687 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706168 | T | TATATATA others(7): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 416 | 0.0024 | 14 | c.-27 others(25): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2724 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706170 | T | TATATATA others(7): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 416 | 0.0024 | 14 | c.-27 others(25): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2726 | chr4 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113678603 | C | CGTGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 406 | 0.0025 | 14 | c.-13 others(25): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1308 | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687794 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0345 | 1 | 406 | 0.0025 | 14 | c.-1+ others(29): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASP8_chr2_201255536_201292709 | 201281933 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0245a0001c0001t0004g0246 | 2 | 386 | 0.0052 | 14 | c.803 others(31): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASQ1_chr1_160185575_160206886 | 160186086 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(103): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(38): Show | 106 | 440 | 0.2409 | 14 | c.-46 others(25): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 4488 | chr1 | TogoVar |