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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTG others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG04184.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0287 a0001c0002t0002g0131 a0001c0002t0002g0177 |
3 | 114 | 0.0263 | 15 | c.281 others(32): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTG others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0161 | 1 | 112 | 0.0089 | 15 | c.281 others(32): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 112 | 0.0089 | 15 | c.281 others(32): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG04199.hp2 NA18946.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0070 a0001c0001t0001g0112 others(8): Show |
12 | 111 | 0.1081 | 15 | c.-7- others(30): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARM1_chr19_10866553_10928075 | 10871601 | G | GGCGGCGG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0120 others(3): Show |
6 | 351 | 0.0171 | 15 | c.-88 others(22): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 87 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10871604 | G | GGCGGCGG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01516.hp1 HG01934.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0102 others(5): Show |
8 | 345 | 0.0232 | 15 | c.-85 others(22): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 84 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10887417 | A | AGCCTGCA others(8): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 352 | 0.0028 | 15 | c.220 others(34): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10906861 | C | CTTTATTT others(8): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19064.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0162 a0001c0001t0001g0209 a0001c0001t0012g0083 |
3 | 98 | 0.0306 | 15 | c.347 others(32): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25293305 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0121 | 1 | 180 | 0.0056 | 15 | c.138 others(32): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25450912 | T | TTCTCTTC others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02258.hp1 HG02630.hp1 others(8): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0012a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0012g0179 a0001c0002t0001g0025 a0001c0002t0001g0049 others(8): Show |
11 | 116 | 0.0948 | 15 | c.614 others(30): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25450984 | C | CTCTCCCC others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01934.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0016others(4): Show | a0001c0002t0001g0025 a0001c0002t0001g0049 a0001c0002t0003g0108 others(7): Show |
10 | 47 | 0.2128 | 15 | c.614 others(30): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25459267 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01192.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0006 | a0001c0003t0002a0001c0004t0004a0001c0006t0002others(1): Show | a0001c0003t0002g0096 a0001c0004t0004g0062 a0001c0006t0002g0027 others(1): Show |
4 | 159 | 0.0252 | 15 | c.615 others(32): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL2_chr16_67640144_67662569 | 67641076 | C | CACCTAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 280 | 0.0036 | 15 | c.-41 others(26): Show |
CARMIL2 | ENSG00000159753.15 | transcript | ENST00000334583.11 | protein_coding | 4067 | chr16 | TogoVar | |||||||
CARNMT1_chr9_74975790_75033293 | 75005286 | A | AACAAACA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02486.hp2 HG02622.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011 | a0001c0001t0003g0250 a0001c0001t0003g0263 a0001c0001t0003g0264 others(10): Show |
13 | 364 | 0.0357 | 15 | c.591 others(32): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110649931 | C | CTGTTTTT others(8): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 17 | 0.0588 | 15 | c.105 others(34): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 10/14 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110654880 | G | GCCACTGC others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0290 | 1 | 370 | 0.0027 | 15 | c.988 others(32): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 9/14 | chr13 | TogoVar | |||||||
CARTPT_chr5_71714275_71726045 | 71721864 | T | TAATAGCA others(8): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 472 | 0.0021 | 15 | c.*12 others(26): Show |
CARTPT | ENSG00000164326.5 | transcript | ENST00000296777.5 | protein_coding | 820 | chr5 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40140351 | C | CACACACA others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 241 | 0.0041 | 15 | c.-19 others(24): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 185 | chr17 | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41869812 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02129.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0124 others(4): Show |
7 | 68 | 0.1029 | 15 | c.60- others(32): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASP2_chr7_143283351_143312696 | 143291780 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0007others(1): Show | a0001c0001t0001g0018 a0001c0001t0002g0018 a0002c0002t0007g0015 others(1): Show |
5 | 35 | 0.1429 | 15 | c.225 others(29): 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(8): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02630.hp1 HG03225.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0010 a0001c0001t0002g0191 a0001c0001t0002g0214 others(4): Show |
11 | 49 | 0.2245 | 15 | c.483 others(30): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113687794 | C | CTCTTCTT others(8): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0068 | 1 | 272 | 0.0037 | 15 | c.-1+ others(30): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687836 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01175.hp1 HG01175.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0287 a0001c0001t0003g0004 a0001c0001t0003g0175 others(3): Show |
6 | 259 | 0.0232 | 15 | c.-1+ others(30): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113687890 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0120 | 1 | 328 | 0.0030 | 15 | c.-1+ others(30): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
CASQ1_chr1_160185575_160206886 | 160186086 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00733.hp1 others(63): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(36): Show |
66 | 160 | 0.4125 | 15 | c.-46 others(26): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 4488 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252395 | G | GAAAAAGA others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02615.hp1 HG02738.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0036a0001c0001t0038others(2): Show | a0001c0001t0001g0234 a0001c0001t0036g0097 a0001c0001t0038g0159 others(2): Show |
5 | 304 | 0.0164 | 15 | c.-24 others(34): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASS4_chr20_56407260_56465382 | 56443469 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 NA18953.hp2 |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0002a0002c0003t0001a0002c0004t0001 | a0001c0002t0002g0188 a0002c0003t0001g0211 a0002c0004t0001g0187 |
3 | 212 | 0.0142 | 15 | c.460 others(32): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960712 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 a0001c0001t0004g0018 |
2 | 184 | 0.0109 | 15 | c.-42 others(26): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 3992 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74960712 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 183 | 0.0055 | 15 | c.-42 others(26): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 3992 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74964586 | A | ACAGCAGC others(8): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0050 | a0001c0001t0006g0222 a0001c0001t0050g0216 |
2 | 226 | 0.0088 | 15 | c.-40 others(24): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 118 | chr7 | TogoVar | |||||||
CAST_chr5_96657376_96779683 | 96680354 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG03041.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0003c0007t0002 | a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0002g0051 others(2): Show |
5 | 240 | 0.0208 | 15 | c.138 others(32): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96696686 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0168 others(48): Show |
54 | 168 | 0.3214 | 15 | c.210 others(30): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96707862 | C | CTAGGATA others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01981.hp1 HG02015.hp2 others(4): Show |
a0005a0007a0014 | a0005c0009a0007c0015a0014c0016 | a0005c0009t0008a0007c0015t0012a0014c0016t0011 | a0005c0009t0008g0139 a0005c0009t0008g0140 a0005c0009t0008g0141 others(4): Show |
7 | 352 | 0.0199 | 15 | c.210 others(34): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 3/31 | chr5 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43638286 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0196 | 1 | 206 | 0.0049 | 15 | c.842 others(30): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
CATSPER4_chr1_26185602_26207964 | 26199598 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0068 | 1 | 351 | 0.0028 | 15 | c.813 others(30): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91587477 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0108 others(1): Show |
4 | 14 | 0.2857 | 15 | c.305 others(32): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 25/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91609518 | A | ATTTAATA others(8): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 270 | 0.0037 | 15 | c.259 others(32): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 21/26 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5715643 | T | TAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 74 | 0.0135 | 15 | c.-50 others(26): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4993 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5741785 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01258.hp2 HG01496.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0096 a0001c0001t0001g0113 others(8): Show |
11 | 83 | 0.1325 | 15 | c.573 others(32): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5741785 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0022 | a0022c0047 | a0022c0047t0001 | a0022c0047t0001g0004 | 1 | 73 | 0.0137 | 15 | c.573 others(32): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5741802 | T | TGGGGGGT others(8): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0027 | a0027c0020 | a0027c0020t0001 | a0027c0020t0001g0030 | 1 | 320 | 0.0031 | 15 | c.573 others(32): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0236 | 1 | 46 | 0.0217 | 15 | c.142 others(34): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18967.hp1 |
a0003 | a0003c0004a0003c0005 | a0003c0004t0001a0003c0005t0001 | a0003c0004t0001g0094 a0003c0005t0001g0239 |
2 | 47 | 0.0426 | 15 | c.142 others(34): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02559.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0088 a0003c0004t0001g0322 |
2 | 47 | 0.0426 | 15 | c.142 others(34): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762059 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG04115.hp1 others(2): Show |
a0001a0016 | a0001c0001a0016c0015 | a0001c0001t0001a0016c0015t0001 | a0001c0001t0001g0047 a0001c0001t0001g0135 a0001c0001t0001g0188 others(2): Show |
5 | 331 | 0.0151 | 15 | c.142 others(34): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | chr19 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244573412 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(18): Show |
a0001a0010a0011 | a0001c0002a0001c0007a0001c0018others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0032 a0001c0002t0001g0046 a0001c0002t0001g0052 others(18): Show |
21 | 158 | 0.1329 | 15 | c.195 others(32): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625428 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02897.hp2 NA19043.hp1 NA19054.hp2 |
a0002a0007a0011 | a0002c0004a0007c0010a0011c0014 | a0002c0004t0001a0007c0010t0001a0011c0014t0004 | a0002c0004t0001g0082 a0007c0010t0001g0137 a0011c0014t0004g0161 |
3 | 173 | 0.0173 | 15 | c.264 others(34): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625430 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03453.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0038 a0001c0001t0001g0125 a0001c0001t0004g0151 others(1): Show |
4 | 143 | 0.0280 | 15 | c.264 others(34): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03710.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0003 | a0001c0001t0003g0185 a0001c0006t0003g0193 |
2 | 7 | 0.2857 | 15 | c.264 others(34): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02970.hp2 NA18984.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0120 a0001c0001t0003g0182 a0001c0001t0003g0189 others(1): Show |
4 | 9 | 0.4444 | 15 | c.264 others(34): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |