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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C7orf50_chr7_992006_1143247 | 1016591 | C | CACAGCAG | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0245a0001c0001t0003g0246a0001c0001t0003g0298others(4): Show | 7 | 326 | 0.0215 | 7 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016821 | A | ACCAGCAC | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0099a0001c0001t0003g0205a0001c0001t0003g0238others(4): Show | 7 | 326 | 0.0215 | 7 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016869 | G | GCAGGACA | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0099a0001c0001t0003g0205a0001c0001t0003g0238others(7): Show | 10 | 326 | 0.0307 | 7 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1034792 | T | TCCTCCCA | intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02132.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(1): Show | a0001c0001t0001g0029a0001c0001t0004g0176a0001c0001t0004g0177others(23): Show | 26 | 326 | 0.0798 | 7 | c.130 others(26): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1095048 | A | AGGCTCAC | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0085a0001c0001t0006g0088a0001c0001t0006g0089others(4): Show | 7 | 326 | 0.0215 | 7 | c.129 others(26): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56911065 | G | GTTTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01943.hp1 HG01975.hp1 others(14): Show |
a0003a0005a0007others(2): Show | a0003c0003a0005c0005a0007c0007others(2): Show | a0003c0003t0002a0005c0005t0002a0007c0007t0004others(2): Show | a0003c0003t0002g0040a0003c0003t0002g0094a0003c0003t0002g0104others(13): Show | 17 | 366 | 0.0465 | 7 | c.138 others(26): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68331771 | T | TTTCCTTC | intron_variant | MODIFIER | HG01346.hp2 HG02055.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0021a0002c0004t0001g0020 | 2 | 128 | 0.0156 | 7 | c.327 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68548276 | A | ATTTTATC | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0003 | a0001c0001t0003g0077a0001c0005t0003g0046 | 2 | 128 | 0.0156 | 7 | c.110 others(28): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
C8orf58_chr8_22594599_22609142 | 22599209 | C | CCTCCCCT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0002g0011others(13): Show | 88 | 332 | 0.2651 | 7 | c.-51 others(16): Show |
C8orf58 | ENSG00000241852.11 | transcript | ENST00000289989.10 | protein_coding | 389 | chr8 | TogoVar | ||||||
C9orf40_chr9_74941583_74957912 | 74955139 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(38): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(4): Show | 41 | 410 | 0.1000 | 7 | c.-25 others(18): Show |
C9orf40 | ENSG00000135045.7 | transcript | ENST00000376854.6 | protein_coding | 2228 | chr9 | TogoVar | ||||||
C9orf43_chr9_113405747_113434690 | 113419619 | G | GAGTTATA | intron_variant | MODIFIER | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
a0003a0009 | a0003c0003a0009c0011 | a0003c0003t0002a0009c0011t0002 | a0003c0003t0002g0006a0003c0003t0002g0081a0009c0011t0002g0006 | 8 | 310 | 0.0258 | 7 | c.345 others(22): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51731673 | A | AAAAGATT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0042others(65): Show | 68 | 156 | 0.4359 | 7 | c.465 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51849265 | A | ATATATAT | intron_variant | MODIFIER | NA18950.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0148 | 2 | 156 | 0.0128 | 7 | c.279 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52127361 | G | GGGCTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01099.hp1 HG01106.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0132a0001c0001t0001g0149others(24): Show | 27 | 156 | 0.1731 | 7 | c.61+ others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52160791 | A | ATTATTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01099.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0092others(20): Show | 23 | 156 | 0.1474 | 7 | c.-30 others(18): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2078 | chr17 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63334242 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02004.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(4): Show | a0001c0001t0002g0079a0001c0001t0002g0182a0001c0001t0008g0069others(12): Show | 15 | 356 | 0.0421 | 7 | c.874 others(24): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 8/10 | chr15 | TogoVar | ||||||
CA2_chr8_85459007_85486493 | 85473010 | T | TAATAATA | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078a0001c0002t0001g0086a0001c0002t0001g0098 | 3 | 336 | 0.0089 | 7 | c.233 others(22): Show |
CA2 | ENSG00000104267.10 | transcript | ENST00000285379.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CA4_chr17_60144973_60164546 | 60163196 | G | GGGGCTGT | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 5 | 380 | 0.0132 | 7 | c.*37 others(18): Show |
CA4 | ENSG00000167434.10 | transcript | ENST00000300900.9 | protein_coding | 3651 | chr17 | TogoVar | ||||||
CA5B_chrX_15733270_15793411 | 15736436 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01071.hp2 HG03579.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0121a0001c0001t0012g0262a0001c0001t0012g0263 | 3 | 274 | 0.0110 | 7 | c.-19 others(18): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1833 | chrX | TogoVar | ||||||
CA5B_chrX_15733270_15793411 | 15745183 | A | AAAAAAAG | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 | 1 | 274 | 0.0037 | 7 | c.-53 others(24): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8959931 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02280.hp1 others(6): Show |
a0002a0004a0009 | a0002c0001a0002c0014a0002c0015others(4): Show | a0002c0001t0001a0002c0014t0001a0002c0015t0001others(4): Show | a0002c0001t0001g0317a0002c0014t0001g0200a0002c0015t0001g0130others(6): Show | 9 | 452 | 0.0199 | 7 | c.501 others(22): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA8_chr8_60180412_60286400 | 60192976 | C | CACACACA | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG02071.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0037 | a0001c0001t0002g0244a0001c0001t0002g0297a0001c0002t0037g0126 | 3 | 344 | 0.0087 | 7 | c.*36 others(24): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60285765 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01884.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005a0001c0006 | a0001c0002t0021a0001c0002t0025a0001c0002t0030others(4): Show | a0001c0002t0021g0090a0001c0002t0025g0012a0001c0002t0030g0089others(4): Show | 7 | 344 | 0.0204 | 7 | c.-46 others(18): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 4366 | chr8 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49346120 | T | TATATATC | intron_variant | MODIFIER | HG01192.hp1 HG02015.hp2 HG02071.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0239a0001c0001t0002g0055a0001c0001t0002g0067others(30): Show | 33 | 324 | 0.1019 | 7 | c.565 others(24): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49439921 | G | GTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00642.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0067a0001c0002t0001g0066a0001c0002t0001g0068others(13): Show | 16 | 324 | 0.0494 | 7 | c.-24 others(26): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230754305 | T | TTTCTTCC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0001t0001g0248others(78): Show | 81 | 342 | 0.2368 | 7 | c.-43 others(24): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230813978 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01167.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0038a0001c0001t0001g0063others(23): Show | 27 | 342 | 0.0790 | 7 | c.628 others(20): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61682889 | C | CTTTTTCT | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG01071.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0119a0001c0001t0001g0143a0001c0001t0001g0157others(42): Show | 47 | 374 | 0.1257 | 7 | c.334 others(24): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61720917 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01109.hp1 HG01167.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0051a0001c0001t0001g0057a0001c0001t0001g0059others(4): Show | 7 | 374 | 0.0187 | 7 | c.552 others(26): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24042877 | T | TGTGTGTG | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp2 HG04115.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0062a0001c0001t0001g0240a0001c0014t0001g0137 | 3 | 268 | 0.0112 | 7 | c.346 others(20): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | chr22 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23248512 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02922.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0101a0001c0001t0002g0175a0001c0001t0002g0187others(3): Show | 6 | 278 | 0.0216 | 7 | c.144 others(26): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABP1_chr12_120635626_120672324 | 120642995 | G | GAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG01943.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0159a0001c0001t0001g0160others(7): Show | 11 | 418 | 0.0263 | 7 | c.654 others(24): Show |
CABP1 | ENSG00000157782.10 | transcript | ENST00000316803.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CABYR_chr18_24134062_24166600 | 24150741 | T | TTCCCACC | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp2 others(23): Show |
a0001a0003a0004 | a0001c0002a0001c0005a0001c0006others(7): Show | a0001c0002t0001a0001c0005t0001a0001c0006t0001others(7): Show | a0001c0002t0001g0024a0001c0002t0001g0049a0001c0002t0001g0053others(20): Show | 26 | 408 | 0.0637 | 7 | c.200 others(24): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CACFD1_chr9_133454978_133475848 | 133458555 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00733.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0002g0006others(15): Show | 25 | 420 | 0.0595 | 7 | c.-15 others(18): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1422 | chr9 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13249820 | T | TGAACCTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(169): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0004a0001c0005others(98): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(131): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(169): Show | 172 | 218 | 0.7890 | 7 | c.486 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 30/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13259312 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01934.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0003others(5): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0002others(7): Show | a0001c0001t0001g0182a0001c0004t0001g0080a0001c0004t0001g0097others(9): Show | 12 | 218 | 0.0551 | 7 | c.438 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 27/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13349027 | A | AAAGAGAG | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01070.hp1 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0005a0001c0006others(22): Show | a0001c0004t0032a0001c0005t0008a0001c0006t0008others(23): Show | a0001c0004t0032g0081a0001c0005t0008g0204a0001c0006t0008g0148others(24): Show | 27 | 218 | 0.1239 | 7 | c.978 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13360313 | G | GAGAGAAC | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01070.hp1 others(52): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0005others(37): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(43): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(52): Show | 55 | 218 | 0.2523 | 7 | c.785 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13376830 | C | CATAATAT | intron_variant | MODIFIER | HG00099.hp2 HG01123.hp2 HG02040.hp2 others(8): Show |
a0001a0002a0004others(6): Show | a0001c0005a0001c0071a0001c0120others(8): Show | a0001c0005t0008a0001c0071t0013a0001c0120t0004others(8): Show | a0001c0005t0008g0204a0001c0071t0013g0138a0001c0120t0004g0014others(8): Show | 11 | 218 | 0.0505 | 7 | c.540 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13433460 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01975.hp1 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0004others(11): Show | a0001c0001t0001g0050a0001c0004t0001g0078a0001c0005t0004g0201others(11): Show | 14 | 218 | 0.0642 | 7 | c.539 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13489003 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004others(2): Show | a0001c0072a0001c0106a0001c0125others(4): Show | a0001c0072t0037a0001c0106t0001a0001c0125t0013others(4): Show | a0001c0072t0037g0213a0001c0106t0001g0121a0001c0125t0013g0209others(4): Show | 7 | 218 | 0.0321 | 7 | c.293 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13510056 | A | AGGGGGGG | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01952.hp1 others(13): Show |
a0001a0002a0004others(9): Show | a0001c0004a0001c0006a0002c0003others(13): Show | a0001c0004t0015a0001c0006t0009a0002c0003t0003others(13): Show | a0001c0004t0015g0140a0001c0006t0009g0189a0002c0003t0003g0061others(13): Show | 16 | 218 | 0.0734 | 7 | c.-38 others(18): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3578 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138128715 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG01515.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0001c0015a0002c0001others(4): Show | a0001c0002t0002a0001c0015t0002a0002c0001t0020others(5): Show | a0001c0002t0002g0046a0001c0015t0002g0102a0002c0001t0020g0030others(8): Show | 11 | 248 | 0.0444 | 7 | c.*67 others(18): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4097 | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2080605 | A | AAAAAAAC | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0029a0001c0001t0002g0001a0001c0001t0002g0027others(74): Show | 77 | 104 | 0.7404 | 7 | c.49+ others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2177590 | T | TCCCTCCC | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0029others(2): Show | a0001c0001t0013a0001c0002t0001a0001c0029t0019others(2): Show | a0001c0001t0013g0014a0001c0002t0001g0016a0001c0002t0001g0092others(3): Show | 6 | 104 | 0.0577 | 7 | c.477 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2501209 | C | CAAAAAAA | intron_variant | MODIFIER | HG02040.hp2 HG02523.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0029a0001c0001t0002g0096a0001c0001t0004g0038others(3): Show | 6 | 104 | 0.0577 | 7 | c.111 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53651366 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG01361.hp1 HG02132.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0046a0001c0001t0048others(8): Show | a0001c0001t0002g0064a0001c0001t0002g0099a0001c0001t0046g0119others(10): Show | 13 | 210 | 0.0619 | 7 | c.623 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 4/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53660796 | T | TTCACCTG | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0009a0001c0023 | a0001c0009t0017a0001c0009t0029a0001c0009t0056others(2): Show | a0001c0009t0017g0085a0001c0009t0029g0185a0001c0009t0056g0184others(2): Show | 5 | 210 | 0.0238 | 7 | c.766 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 5/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53682365 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG02027.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0021a0001c0002t0060a0001c0003t0001others(4): Show | a0001c0001t0021g0130a0001c0002t0060g0144a0001c0003t0001g0157others(4): Show | 7 | 210 | 0.0333 | 7 | c.122 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53767565 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG02040.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0024a0001c0001t0071a0001c0002t0005others(8): Show | a0001c0001t0024g0069a0001c0001t0071g0034a0001c0002t0005g0071others(13): Show | 16 | 210 | 0.0762 | 7 | c.393 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |