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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN2_chr1_223707539_223781018 | 223741765 | T | TTTTTC | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp1 HG02886.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0009 | a0001c0001t0001a0001c0003t0001a0005c0009t0001 | a0001c0001t0001g0131a0001c0001t0001g0187a0001c0001t0001g0215others(6): Show | 9 | 378 | 0.0238 | 5 | c.308 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223776041 | C | CCATAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(42): Show |
a0001a0003a0011others(3): Show | a0001c0001a0001c0003a0003c0023others(4): Show | a0001c0001t0002a0001c0003t0002a0003c0023t0002others(4): Show | a0001c0001t0002g0136a0001c0001t0002g0141a0001c0001t0002g0144others(42): Show | 45 | 378 | 0.1191 | 5 | c.*11 others(16): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 24 | chr1 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77097464 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(22): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(9): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0004g0003others(19): Show | 25 | 382 | 0.0655 | 5 | c.297 others(22): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15210490 | T | TATCTG | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG01891.hp2 others(46): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0278a0001c0001t0003g0283a0001c0001t0003g0284others(41): Show | 49 | 376 | 0.1303 | 5 | c.103 others(22): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15238849 | A | ATTTTT | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02109.hp2 others(18): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0278a0001c0001t0003g0286a0001c0001t0003g0287others(18): Show | 21 | 376 | 0.0559 | 5 | c.140 others(24): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15245197 | C | CAAAAG | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG01891.hp2 others(46): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0278a0001c0001t0003g0283a0001c0001t0003g0284others(41): Show | 49 | 376 | 0.1303 | 5 | c.186 others(22): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPNS1_chr19_36135066_36155353 | 36145203 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01109.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0015others(19): Show | 50 | 480 | 0.1042 | 5 | c.457 others(20): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | ATATAT | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01358.hp2 HG01934.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002a0003c0003t0001g0142a0003c0003t0001g0154 | 4 | 378 | 0.0106 | 5 | c.-33 others(16): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112644184 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0028others(77): Show | 84 | 368 | 0.2283 | 5 | c.40- others(20): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA1_chr1_112614832_112676616 | 112656440 | A | ATTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG01258.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0147others(23): Show | 28 | 368 | 0.0761 | 5 | c.426 others(22): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA1_chr1_112614832_112676616 | 112656466 | T | TTTTTC | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01515.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0009a0001c0001t0001g0038a0001c0001t0001g0055others(8): Show | 12 | 368 | 0.0326 | 5 | c.426 others(22): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTT | intron_variant | MODIFIER | HG01258.hp2 HG01433.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0200a0001c0001t0001g0212a0001c0001t0001g0260others(3): Show | 6 | 354 | 0.0170 | 5 | c.40- others(20): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA3_chr12_18733119_18744188 | 18743656 | G | GTTTGT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0001a0005 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(4): Show | 326 | 392 | 0.8316 | 5 | c.*44 others(16): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 4469 | chr12 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19333899 | C | CAAACA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG01981.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0049others(31): Show | 34 | 364 | 0.0934 | 5 | c.*56 others(16): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4875 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19333935 | A | AAACAC | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02886.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0085a0001c0001t0001g0289others(4): Show | 7 | 364 | 0.0192 | 5 | c.*55 others(16): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4839 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19335585 | C | CAAACA | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02630.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0081others(5): Show | 8 | 364 | 0.0220 | 5 | c.*39 others(16): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 3189 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19336361 | T | TAAAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(185): Show | 188 | 364 | 0.5165 | 5 | c.*31 others(16): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2413 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19357263 | A | AATCTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(213): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(213): Show | 216 | 364 | 0.5934 | 5 | c.471 others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19363260 | A | ATTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(84): Show | 87 | 364 | 0.2390 | 5 | c.330 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19416860 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0079a0001c0001t0001g0080others(24): Show | 27 | 364 | 0.0742 | 5 | c.93+ others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19485737 | G | GGGCGC | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(3): Show | 6 | 364 | 0.0165 | 5 | c.-30 others(14): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 199 | chr1 | TogoVar | ||||||
CARD10_chr22_37485362_37524415 | 37491614 | G | GAGGGA | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 NA18947.hp2 |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0001a0003c0005t0001 | a0002c0001t0001g0072a0002c0001t0001g0073a0003c0005t0001g0219 | 3 | 276 | 0.0109 | 5 | c.286 others(22): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 19/19 | chr22 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933683 | T | TCTTTC | intron_variant | MODIFIER | HG02622.hp1 HG03453.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0006a0001c0021a0001c0029 | a0001c0006t0001a0001c0021t0001a0001c0029t0001 | a0001c0006t0001g0266a0001c0006t0001g0268a0001c0021t0001g0021others(2): Show | 5 | 322 | 0.0155 | 5 | c.151 others(22): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2951532 | G | GTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02622.hp1 others(6): Show |
a0001a0002 | a0001c0008a0001c0018a0001c0029others(6): Show | a0001c0008t0001a0001c0018t0001a0001c0029t0001others(6): Show | a0001c0008t0001g0193a0001c0018t0001g0060a0001c0029t0001g0300others(6): Show | 9 | 322 | 0.0280 | 5 | c.8-3 others(18): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 2/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2998512 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(63): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(19): Show | a0001c0001t0001g0038a0001c0001t0001g0065a0001c0001t0001g0078others(63): Show | 66 | 322 | 0.2050 | 5 | c.-12 others(26): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3040328 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp2 others(46): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(19): Show | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0112others(46): Show | 49 | 322 | 0.1522 | 5 | c.-12 others(24): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3047175 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01978.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0007a0001c0003t0001 | a0001c0001t0001g0103a0001c0001t0001g0112a0001c0001t0001g0126others(3): Show | 6 | 322 | 0.0186 | 5 | c.-36 others(16): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 3309 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80165033 | C | CATTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp1 others(66): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0007a0001c0012others(18): Show | a0001c0001t0002a0001c0007t0002a0001c0012t0001others(25): Show | a0001c0001t0002g0004a0001c0001t0002g0114a0001c0001t0002g0134others(64): Show | 69 | 376 | 0.1835 | 5 | c.-57 others(16): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 4996 | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80167686 | C | CGTTTT | upstream_gene_variant | MODIFIER | HG02027.hp1 NA18747.hp2 NA18947.hp1 others(1): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0012t0001 | a0001c0001t0002g0225a0001c0001t0002g0229a0001c0001t0002g0230others(1): Show | 4 | 376 | 0.0106 | 5 | c.-30 others(16): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 2343 | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80197543 | A | AAAAAG | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02717.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0025a0001c0067others(2): Show | a0001c0001t0023a0001c0025t0002a0001c0025t0004others(3): Show | a0001c0001t0023g0043a0001c0025t0002g0031a0001c0025t0004g0010others(4): Show | 7 | 376 | 0.0186 | 5 | c.159 others(22): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80201440 | C | CTTTCT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(35): Show |
a0001a0003a0005others(2): Show | a0001c0012a0001c0051a0003c0029others(5): Show | a0001c0012t0001a0001c0051t0001a0003c0029t0001others(7): Show | a0001c0012t0001g0029a0001c0012t0001g0082a0001c0012t0001g0098others(35): Show | 38 | 376 | 0.1011 | 5 | c.185 others(22): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80213193 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02280.hp2 others(5): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0007a0001c0030others(3): Show | a0001c0001t0004a0001c0007t0004a0001c0030t0004others(3): Show | a0001c0001t0004g0026a0001c0007t0004g0338a0001c0030t0004g0357others(5): Show | 8 | 376 | 0.0213 | 5 | c.*48 others(16): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 3863 | chr17 | TogoVar | ||||||
CARD6_chr5_40836367_40860354 | 40850413 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG01175.hp1 HG02155.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0164a0001c0002t0001g0016a0001c0002t0001g0076others(2): Show | 8 | 440 | 0.0182 | 5 | c.842 others(22): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CARD8_chr19_48203086_48260912 | 48214769 | C | CTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02615.hp1 others(7): Show |
a0001a0003 | a0001c0002a0003c0009 | a0001c0002t0002a0001c0002t0007a0001c0002t0012others(3): Show | a0001c0002t0002g0066a0001c0002t0002g0194a0001c0002t0007g0098others(7): Show | 10 | 362 | 0.0276 | 5 | c.134 others(22): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 13/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48217618 | A | AATGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(15): Show | a0001c0002t0001a0001c0002t0013a0001c0003t0003others(59): Show | a0001c0002t0001g0207a0001c0002t0001g0237a0001c0002t0001g0239others(218): Show | 242 | 362 | 0.6685 | 5 | c.130 others(24): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 12/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48226053 | C | CAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01261.hp1 HG01433.hp1 others(10): Show |
a0004 | a0004c0007a0004c0011 | a0004c0007t0007a0004c0007t0008a0004c0007t0029others(2): Show | a0004c0007t0007g0152a0004c0007t0008g0035a0004c0007t0008g0036others(9): Show | 13 | 362 | 0.0359 | 5 | c.103 others(24): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 10/13 | chr19 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00735.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0038a0001c0002t0001others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0016others(33): Show | 38 | 470 | 0.0809 | 5 | c.*31 others(16): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8853420 | A | AACAAC | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(123): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0032a0001c0002t0002others(14): Show | a0001c0001t0002g0135a0001c0001t0002g0160a0001c0001t0002g0200others(115): Show | 126 | 470 | 0.2681 | 5 | c.*17 others(16): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 4/4 | 1743 | chr16 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10890796 | T | TATATA | intron_variant | MODIFIER | HG01168.hp2 HG01358.hp2 HG02698.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0012a0001c0001t0022others(2): Show | a0001c0001t0009g0086a0001c0001t0009g0087a0001c0001t0012g0034others(4): Show | 7 | 354 | 0.0198 | 5 | c.221 others(24): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | chr19 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10906861 | C | CTTTAT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(104): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0108a0001c0001t0002g0162a0001c0001t0002g0195others(101): Show | 107 | 354 | 0.3023 | 5 | c.347 others(22): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25317562 | C | CTTTTT | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0005others(2): Show | a0001c0001t0008a0001c0001t0015a0001c0004t0009others(4): Show | a0001c0001t0008g0101a0001c0001t0015g0184a0001c0004t0009g0182others(4): Show | 7 | 186 | 0.0376 | 5 | c.138 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25340777 | G | GTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG02165.hp2 HG03710.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(7): Show | a0001c0001t0001g0020a0001c0001t0001g0065a0001c0001t0005g0147others(10): Show | 13 | 186 | 0.0699 | 5 | c.138 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25387114 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp1 HG01433.hp1 others(14): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0011others(11): Show | a0001c0001t0001g0020a0001c0002t0001g0111a0001c0002t0011g0029others(14): Show | 17 | 186 | 0.0914 | 5 | c.139 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450910 | C | CCTTCT | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00738.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0007a0001c0002t0008others(11): Show | a0001c0001t0001g0012a0001c0001t0001g0056a0001c0001t0001g0078others(15): Show | 18 | 186 | 0.0968 | 5 | c.614 others(20): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450912 | T | TTCTCC | intron_variant | MODIFIER | HG01255.hp2 HG02572.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0019a0001c0003t0023a0002c0007t0020 | a0001c0001t0019g0014a0001c0003t0023g0161a0002c0007t0020g0181 | 3 | 186 | 0.0161 | 5 | c.614 others(20): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25465071 | C | CAAAAA | intron_variant | MODIFIER | HG02486.hp1 HG06807.hp1 NA18906.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0022 | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0001g0105others(2): Show | 5 | 186 | 0.0269 | 5 | c.615 others(20): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25514550 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00642.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0012a0001c0029others(7): Show | a0001c0004t0004a0001c0012t0006a0001c0029t0006others(15): Show | a0001c0004t0004g0115a0001c0012t0006g0118a0001c0012t0006g0119others(24): Show | 27 | 186 | 0.1452 | 5 | c.163 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25573590 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02083.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0004a0001c0004t0004a0001c0004t0014 | a0001c0003t0004g0092a0001c0004t0004g0036a0001c0004t0004g0039others(4): Show | 7 | 186 | 0.0376 | 5 | c.274 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL2_chr16_67640144_67662569 | 67660954 | G | GGCGGC | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0027others(2): Show | 8 | 282 | 0.0284 | 5 | c.*34 others(16): Show |
CARMIL2 | ENSG00000159753.15 | transcript | ENST00000334583.11 | protein_coding | 3386 | chr16 | TogoVar | ||||||
CARNS1_chr11_67410678_67430604 | 67414172 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG01934.hp1 HG02258.hp2 HG02965.hp2 others(3): Show |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0008a0002c0006t0002g0011a0002c0006t0002g0054 | 6 | 346 | 0.0173 | 5 | c.-16 others(16): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 1505 | chr11 | TogoVar |