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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CREM_chr10_35121846_35217953 | 35126855 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0289 | 1 | 294 | 0.0034 | 0 | c.-39 others(4): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CREM_chr10_35121846_35217953 | 35126939 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00738.hp2 HG01071.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0020 | a0001c0002t0004g0035a0001c0002t0004g0109a0001c0002t0004g0111others(9): Show | 12 | 294 | 0.0408 | 0 | c.-30 others(4): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CREM_chr10_35121846_35217953 | 35137827 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(119): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0036a0001c0001t0002g0037a0001c0001t0002g0040others(119): Show | 122 | 294 | 0.4150 | 0 | c.-9A others(2): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
CRHR1_chr17_45779320_45840828 | 45784518 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02258.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0011a0001c0001t0010g0046a0001c0001t0010g0063 | 4 | 301 | 0.0133 | 0 | c.-27 others(3): Show |
CRHR1 | ENSG00000120088.16 | transcript | ENST00000314537.10 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36356070 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0225 | 1 | 324 | 0.0031 | 0 | c.-22 others(4): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 1/17 | chr2 | TogoVar | ||||||
CRISP1_chr6_49829257_49871535 | 49866432 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0256 | 1 | 378 | 0.0027 | 0 | c.-6T others(2): Show |
CRISP1 | ENSG00000124812.15 | transcript | ENST00000335847.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
CRISP1_chr6_49829257_49871535 | 49866438 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0256 | 1 | 378 | 0.0027 | 0 | c.-12 others(3): Show |
CRISP1 | ENSG00000124812.15 | transcript | ENST00000335847.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
CRISP1_chr6_49829257_49871535 | 49866440 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0256 | 1 | 378 | 0.0027 | 0 | c.-14 others(3): Show |
CRISP1 | ENSG00000124812.15 | transcript | ENST00000335847.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
CRISP1_chr6_49829257_49871535 | 49866460 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0256 | 1 | 378 | 0.0027 | 0 | c.-34 others(3): Show |
CRISP1 | ENSG00000124812.15 | transcript | ENST00000335847.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
CRISP1_chr6_49829257_49871535 | 49866461 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0256 | 1 | 378 | 0.0027 | 0 | c.-35 others(3): Show |
CRISP1 | ENSG00000124812.15 | transcript | ENST00000335847.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20917542 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0167 | 1 | 370 | 0.0027 | 0 | c.-39 others(4): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CRK_chr17_1415693_1461232 | 1456204 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0389 | 1 | 404 | 0.0025 | 0 | c.-87 others(3): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CRLF1_chr19_18588237_18611799 | 18606685 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19010.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 2 | 408 | 0.0049 | 0 | c.-29 others(3): Show |
CRLF1 | ENSG00000006016.12 | transcript | ENST00000392386.8 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98030567 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0204 | 1 | 204 | 0.0049 | 0 | c.-95 others(3): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/15 | chr10 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26616333 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0171 | 1 | 426 | 0.0024 | 0 | c.-14 others(3): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106360770 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03688.hp2 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0149 | 1 | 272 | 0.0037 | 0 | c.-13 others(4): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/22 | chr6 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151439956 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0127 | 1 | 452 | 0.0022 | 0 | c.-39 others(3): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20525843 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02602.hp1 HG03017.hp2 NA18957.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0247a0001c0003t0003g0248a0001c0003t0003g0249 | 3 | 250 | 0.0120 | 0 | c.-49 others(3): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/8 | chr13 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41571852 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0102 | 1 | 288 | 0.0035 | 0 | c.-11 others(4): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/4 | chr22 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41571866 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(97): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(21): Show | a0001c0001t0003g0005a0001c0001t0003g0006a0001c0001t0003g0008others(74): Show | 100 | 288 | 0.3472 | 0 | c.-10 others(4): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/4 | chr22 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49046383 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075a0001c0001t0004g0077 | 2 | 386 | 0.0052 | 0 | c.-52 others(3): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/25 | chr20 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19601858 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0047 | a0001c0002t0047g0197 | 1 | 238 | 0.0042 | 0 | c.-38 others(4): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
CSKMT_chr11_62660312_62673108 | 62665680 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 362 | 0.0028 | 0 | c.-20 others(4): Show |
CSKMT | ENSG00000214756.8 | transcript | ENST00000532971.2 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74782530 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0143 | 1 | 394 | 0.0025 | 0 | c.-25 others(4): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/13 | chr15 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4994578 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01123.hp1 | a0008 | a0008c0008 | a0008c0008t0082 | a0008c0008t0082g0126 | 1 | 126 | 0.0079 | 0 | c.-16 others(4): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/70 | chr8 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34165211 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02723.hp1 HG02809.hp1 HG03195.hp2 |
a0023a0028a0029 | a0023c0017a0028c0010a0029c0009 | a0023c0017t0016a0028c0010t0017a0029c0009t0018 | a0023c0017t0016g0066a0028c0010t0017g0064a0029c0009t0018g0065 | 3 | 66 | 0.0455 | 0 | c.-11 others(4): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/71 | chr1 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64300634 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02083.hp1 HG03490.hp2 HG03654.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0033a0001c0001t0034others(1): Show | a0001c0001t0006g0103a0001c0001t0006g0145a0001c0001t0006g0160others(7): Show | 10 | 176 | 0.0568 | 0 | c.-13 others(4): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64300646 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02886.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0036a0001c0004t0035 | a0001c0001t0036g0117a0001c0004t0035g0118 | 2 | 176 | 0.0114 | 0 | c.-14 others(4): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1941232 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02004.hp1 HG02735.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0027 | a0001c0001t0008g0283a0001c0001t0008g0284a0001c0001t0027g0372 | 3 | 382 | 0.0079 | 0 | c.-45 others(4): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
CSNK1G3_chr5_123507177_123622049 | 123512180 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0275 | 1 | 294 | 0.0034 | 0 | c.-63 others(4): Show |
CSNK1G3 | ENSG00000151292.19 | transcript | ENST00000696905.1 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
CSNK1G3_chr5_123507177_123622049 | 123512426 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0027 | a0001c0001t0025g0030a0001c0001t0027g0028 | 2 | 294 | 0.0068 | 0 | c.-39 others(4): Show |
CSNK1G3 | ENSG00000151292.19 | transcript | ENST00000696905.1 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
CSNK2B_chr6_31661080_31675067 | 31666173 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 421 | 0.0024 | 0 | c.-47 others(3): Show |
CSNK2B | ENSG00000204435.15 | transcript | ENST00000375882.7 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88465283 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0270 | 1 | 386 | 0.0026 | 0 | c.-75 others(3): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
CSRNP2_chr12_51056205_51088596 | 51083556 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp1 HG03471.hp2 HG06807.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0008a0003c0004t0031 | a0003c0004t0008g0294a0003c0004t0008g0295a0003c0004t0008g0296others(1): Show | 4 | 420 | 0.0095 | 0 | c.-30 others(4): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
CST2_chr20_23818769_23831729 | 23826671 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(98): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0021others(7): Show | 101 | 470 | 0.2149 | 0 | c.-11 others(3): Show |
CST2 | ENSG00000170369.4 | transcript | ENST00000304725.3 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
CST2_chr20_23818769_23831729 | 23826723 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0021others(6): Show | 98 | 470 | 0.2085 | 0 | c.-63 others(3): Show |
CST2 | ENSG00000170369.4 | transcript | ENST00000304725.3 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
CST4_chr20_23680640_23694038 | 23688993 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(207): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0012others(31): Show | 210 | 452 | 0.4646 | 0 | c.-24 others(3): Show |
CST4 | ENSG00000101441.5 | transcript | ENST00000217423.4 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
CST4_chr20_23680640_23694038 | 23689027 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0056 | 1 | 452 | 0.0022 | 0 | c.-58 others(3): Show |
CST4 | ENSG00000101441.5 | transcript | ENST00000217423.4 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
CST7_chr20_24944269_24964928 | 24949410 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0103 | 1 | 350 | 0.0029 | 0 | c.-96 others(3): Show |
CST7 | ENSG00000077984.6 | transcript | ENST00000480798.2 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
CSTF3_chr11_33079584_33166480 | 33161471 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(201): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0012others(178): Show | 204 | 360 | 0.5667 | 0 | c.-14 others(4): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 1/21 | chr11 | TogoVar | ||||||
CT47A1_chrX_120977476_120990760 | 120985559 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 302 | 0.0033 | 0 | c.-30 others(3): Show |
CT47A1 | ENSG00000236371.6 | transcript | ENST00000433030.4 | protein_coding | 1/3 | chrX | TogoVar | ||||||
CT47A2_chrX_120972606_120985928 | 120980703 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038a0001c0001t0004g0039 | 2 | 253 | 0.0079 | 0 | c.-34 others(3): Show |
CT47A2 | ENSG00000242362.2 | transcript | ENST00000458218.3 | protein_coding | 1/3 | chrX | TogoVar | ||||||
CT47A7_chrX_120948282_120961600 | 120956580 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(3): Show | 14 | 19 | 0.7368 | 0 | c.-23 others(4): Show |
CT47A7 | ENSG00000228517.3 | transcript | ENST00000434883.3 | protein_coding | 1/3 | chrX | TogoVar | ||||||
CTAG1B_chrX_154612609_154624282 | 154619225 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0030 | 1 | 254 | 0.0039 | 0 | c.-7C others(2): Show |
CTAG1B | ENSG00000184033.14 | transcript | ENST00000328435.3 | protein_coding | 1/3 | chrX | TogoVar | ||||||
CTBP1_chr4_1206445_1254130 | 1249028 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0353 | 1 | 422 | 0.0024 | 0 | c.-30 others(4): Show |
CTBP1 | ENSG00000159692.18 | transcript | ENST00000382952.8 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
CTDNEP1_chr17_7238591_7256734 | 7251318 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0087 | 1 | 398 | 0.0025 | 0 | c.-22 others(3): Show |
CTDNEP1 | ENSG00000175826.12 | transcript | ENST00000574322.6 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
CTDNEP1_chr17_7238591_7256734 | 7251357 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0088 | 1 | 398 | 0.0025 | 0 | c.-61 others(3): Show |
CTDNEP1 | ENSG00000175826.12 | transcript | ENST00000574322.6 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
CTDSP2_chr12_57814927_57851729 | 57846552 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 | 1 | 346 | 0.0029 | 0 | c.-11 others(4): Show |
CTDSP2 | ENSG00000175215.11 | transcript | ENST00000398073.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
CTDSPL2_chr15_44422629_44534038 | 44427734 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0008 | 1 | 234 | 0.0043 | 0 | c.-63 others(3): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 1/13 | chr15 | TogoVar | ||||||
CTH_chr1_70406268_70444851 | 70411276 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01934.hp2 HG02280.hp1 HG02486.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007 | a0001c0001t0005g0048a0001c0001t0005g0049a0001c0001t0005g0275others(10): Show | 15 | 424 | 0.0354 | 0 | c.-14 others(4): Show |
CTH | ENSG00000116761.12 | transcript | ENST00000370938.8 | protein_coding | 1/12 | chr1 | TogoVar |