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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK4_chr5_111219384_111499886 | 111461813 | T | TAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0224 others(20): Show |
23 | 33 | 0.6970 | 7 | c.626 others(26): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121264968 | C | CAAAACAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(134): Show |
a0001a0002a0004others(3): Show | a0001c0013a0002c0002a0002c0004others(12): Show | a0001c0013t0001a0001c0013t0006a0002c0002t0001others(24): Show | a0001c0013t0001g0108 a0001c0013t0006g0089 a0001c0013t0006g0106 others(133): Show |
137 | 328 | 0.4177 | 7 | c.626 others(24): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 5/16 | chr12 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44589883 | T | TAAAAAAA | intron_variant | MODIFIER | HG01975.hp2 HG02258.hp2 HG02559.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0087 others(14): Show |
17 | 91 | 0.1868 | 7 | c.377 others(28): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44614936 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01192.hp1 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 others(18): Show |
21 | 61 | 0.3443 | 7 | c.377 others(26): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44708211 | A | ATTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp1 HG01169.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0052 a0001c0001t0001g0055 others(37): Show |
40 | 53 | 0.7547 | 7 | c.556 others(22): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44768362 | T | TATATATA | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0054 a0001c0001t0001g0125 |
3 | 174 | 0.0172 | 7 | c.894 others(24): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 10/10 | chr2 | TogoVar | |||||||
CAMSAP1_chr9_135803487_135912546 | 135851550 | A | AGGGAACC | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0008a0001c0030 | a0001c0008t0006a0001c0008t0013a0001c0008t0026others(1): Show | a0001c0008t0006g0292 a0001c0008t0006g0293 a0001c0008t0006g0295 others(3): Show |
6 | 338 | 0.0178 | 7 | c.809 others(24): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 5/16 | chr9 | TogoVar | |||||||
CAMSAP1_chr9_135803487_135912546 | 135868609 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0020 | a0001c0002t0003g0016 a0001c0002t0003g0282 a0001c0002t0003g0288 others(8): Show |
11 | 157 | 0.0701 | 7 | c.586 others(24): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 3/16 | chr9 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200759168 | C | CAATTTGG | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(96): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0017a0001c0002t0002a0001c0002t0010others(8): Show | a0001c0001t0017g0112 a0001c0002t0002g0002 a0001c0002t0002g0033 others(96): Show |
99 | 364 | 0.2720 | 7 | c.140 others(24): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200775537 | G | GTTTGTTT | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp2 HG02896.hp1 |
a0004 | a0004c0005a0004c0006 | a0004c0005t0014a0004c0006t0016 | a0004c0005t0014g0026 a0004c0005t0014g0027 a0004c0006t0016g0008 |
3 | 364 | 0.0082 | 7 | c.399 others(26): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6902084 | T | TAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG02132.hp1 HG02523.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0021a0001c0003t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0021g0014 others(2): Show |
5 | 52 | 0.0962 | 7 | c.234 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6995295 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02132.hp1 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0024 a0001c0001t0002g0009 a0001c0001t0008g0003 others(5): Show |
8 | 24 | 0.3333 | 7 | c.235 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7227937 | C | CCTGCCAA | intron_variant | MODIFIER | HG00558.hp1 HG03225.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0013 | a0001c0001t0003g0047 a0001c0001t0005g0038 a0001c0001t0013g0054 |
3 | 58 | 0.0517 | 7 | c.303 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7370914 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG02004.hp2 others(23): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 others(23): Show |
26 | 28 | 0.9286 | 7 | c.439 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7680861 | C | CGCGCCAG | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp2 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0005 | a0001c0006t0001g0055 a0001c0006t0005g0057 |
2 | 17 | 0.1176 | 7 | c.291 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | chr1 | TogoVar | |||||||
CAND2_chr3_12791680_12839803 | 12816051 | T | TCCAGAAC | intron_variant | MODIFIER | HG02630.hp1 HG03471.hp2 HG06807.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0365 a0001c0007t0001g0366 a0001c0007t0001g0367 |
3 | 376 | 0.0080 | 7 | c.144 others(22): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 78987377 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG02015.hp2 HG02132.hp1 others(18): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0008a0001c0003t0002others(2): Show | a0001c0002t0002g0009 a0001c0002t0002g0033 a0001c0002t0002g0037 others(14): Show |
21 | 161 | 0.1304 | 7 | c.*61 others(18): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | |||||||
CANX_chr5_179693967_179736641 | 179701736 | C | CTTTTTTT | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG02738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014 | a0001c0001t0001g0009 a0001c0001t0001g0108 a0001c0001t0001g0201 others(9): Show |
13 | 48 | 0.2708 | 7 | c.-4+ others(22): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17440606 | C | CTGTGTGG | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01243.hp2 others(13): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0196 others(13): Show |
16 | 183 | 0.0874 | 7 | c.222 others(26): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17496326 | A | AGTATCTT | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0009t0001g0013 |
3 | 204 | 0.0147 | 7 | c.301 others(26): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17529640 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0068 others(7): Show |
10 | 134 | 0.0746 | 7 | c.637 others(24): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44172317 | T | TGGCTGCC | frameshift_variant | HIGH | HG00323.hp1 HG01167.hp1 HG01167.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show |
21 | 458 | 0.0459 | 7 | c.426 others(14): Show |
p.Ile others(5): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 5/23 | 462/2718 | 433/2220 | 145/739 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
CAPN11_chr6_44153820_44189401 | 44178749 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG02109.hp1 HG02155.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0002 others(7): Show |
18 | 316 | 0.0570 | 7 | c.141 others(24): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 12/22 | chr6 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44182068 | C | CATACACA | intron_variant | MODIFIER | HG02015.hp1 HG02257.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(3): Show |
7 | 458 | 0.0153 | 7 | c.193 others(24): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38749045 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00733.hp2 others(3): Show |
a0001a0003a0010 | a0001c0006a0003c0005a0010c0018 | a0001c0006t0004a0003c0005t0004a0010c0018t0004 | a0001c0006t0004g0026 a0003c0005t0004g0025 a0003c0005t0004g0030 others(3): Show |
6 | 213 | 0.0282 | 7 | c.-48 others(18): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 4572 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30749758 | C | CATGTGAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(189): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0020others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0052 others(182): Show |
192 | 382 | 0.5026 | 7 | c.123 others(26): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 11/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAAGAAAG | intron_variant | MODIFIER | HG02132.hp1 HG03098.hp2 NA19000.hp2 |
a0001a0002a0015 | a0001c0001a0002c0003a0015c0016 | a0001c0001t0001a0002c0003t0001a0015c0016t0001 | a0001c0001t0001g0280 a0002c0003t0001g0204 a0015c0016t0001g0363 |
3 | 90 | 0.0333 | 7 | c.-33 others(24): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223720315 | C | CTCTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(4): Show | a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 others(46): Show |
56 | 100 | 0.5600 | 7 | c.307 others(24): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223720315 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01243.hp1 others(32): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0037others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(6): Show | a0001c0002t0001g0020 a0001c0002t0001g0090 a0001c0002t0003g0004 others(31): Show |
35 | 79 | 0.4430 | 7 | c.307 others(24): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230769666 | T | TATCTATC | intron_variant | MODIFIER | HG01081.hp2 HG01952.hp1 HG01993.hp1 others(14): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0017others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(2): Show | a0001c0002t0001g0164 a0001c0003t0001g0025 a0001c0003t0001g0073 others(13): Show |
17 | 360 | 0.0472 | 7 | c.789 others(22): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230805074 | T | TGATATTA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp2 others(73): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0106 a0001c0001t0001g0144 others(68): Show |
76 | 383 | 0.1984 | 7 | c.*34 others(18): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3086 | chr1 | TogoVar | |||||||
CAPNS1_chr19_36135066_36155353 | 36154856 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(188): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(99): Show |
191 | 473 | 0.4038 | 7 | c.*50 others(18): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 4504 | chr19 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30758006 | A | ATATATAT | upstream_gene_variant | MODIFIER | NA18988.hp2 NA19000.hp1 NA19082.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0151 |
3 | 298 | 0.0101 | 7 | c.-32 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3056 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | AAAAATAT | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01261.hp2 others(4): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0003a0006c0010t0001 | a0002c0002t0003g0011 a0002c0002t0003g0201 a0002c0002t0003g0204 others(1): Show |
7 | 195 | 0.0359 | 7 | c.-33 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | AAATATAT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01081.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0006t0001 | a0001c0001t0001g0082 a0002c0002t0001g0005 a0002c0002t0001g0007 others(12): Show |
22 | 210 | 0.1048 | 7 | c.-33 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02015.hp1 NA18950.hp2 NA18991.hp1 others(2): Show |
a0002a0003 | a0002c0002a0002c0011a0003c0003 | a0002c0002t0001a0002c0011t0001a0003c0003t0001 | a0002c0002t0001g0018 a0002c0002t0001g0189 a0002c0011t0001g0182 others(2): Show |
5 | 193 | 0.0259 | 7 | c.-33 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75315907 | T | TTGCTTCA | intron_variant | MODIFIER | HG01243.hp1 HG02056.hp2 HG02622.hp2 others(4): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0002a0001c0003t0014a0001c0003t0031others(2): Show | a0001c0003t0002g0018 a0001c0003t0014g0059 a0001c0003t0031g0292 others(3): Show |
7 | 368 | 0.0190 | 7 | c.477 others(22): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 6/16 | chr12 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp1 others(26): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0001a0001c0008t0001 | a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0073 others(17): Show |
29 | 232 | 0.1250 | 7 | c.137 others(24): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAATAT | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01981.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0027 a0001c0001t0001g0103 a0001c0001t0001g0109 others(10): Show |
16 | 219 | 0.0731 | 7 | c.137 others(24): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112644184 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG03491.hp2 HG03927.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0040 others(7): Show |
10 | 18 | 0.5556 | 7 | c.40- others(22): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112656466 | T | TTTTTTTC | intron_variant | MODIFIER | HG01099.hp1 HG01358.hp2 HG01952.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0047 others(15): Show |
18 | 266 | 0.0677 | 7 | c.426 others(24): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0027 | a0001c0001t0001g0202 a0001c0001t0001g0258 a0001c0001t0001g0259 others(6): Show |
10 | 13 | 0.7692 | 7 | c.40- others(22): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19356315 | A | AACAGGGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(173): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(173): Show |
176 | 362 | 0.4862 | 7 | c.588 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19363260 | A | ATTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG01978.hp2 HG02080.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0318 a0001c0001t0002g0331 a0001c0001t0002g0337 others(6): Show |
9 | 103 | 0.0874 | 7 | c.330 others(24): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19383446 | C | CAAAAAAA | intron_variant | MODIFIER | HG02074.hp1 HG02083.hp2 NA18940.hp2 others(7): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0003a0001c0006t0003 | a0001c0002t0002g0279 a0001c0002t0002g0342 a0001c0002t0002g0352 others(7): Show |
10 | 82 | 0.1220 | 7 | c.215 others(24): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2933686 | T | TTCCTTTC | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01069.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0047 | a0001c0001t0001a0001c0007t0001a0002c0047t0001 | a0001c0001t0001g0157 a0001c0007t0001g0091 a0001c0007t0001g0092 others(7): Show |
10 | 320 | 0.0313 | 7 | c.151 others(24): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2933709 | T | TTCCCTCC | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0010a0001c0042a0001c0043 | a0001c0010t0002a0001c0042t0001a0001c0043t0001 | a0001c0010t0002g0058 a0001c0010t0002g0283 a0001c0010t0002g0310 others(2): Show |
5 | 316 | 0.0158 | 7 | c.151 others(24): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2933770 | T | TTTCTTTC | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG03540.hp2 |
a0001 | a0001c0006a0001c0043 | a0001c0006t0001a0001c0043t0001 | a0001c0006t0001g0190 a0001c0006t0001g0259 a0001c0043t0001g0030 |
3 | 297 | 0.0101 | 7 | c.151 others(24): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3022935 | A | ATATTTAT | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02280.hp2 others(6): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0011a0001c0006t0001others(6): Show | a0001c0001t0001g0093 a0001c0002t0011g0262 a0001c0006t0001g0259 others(6): Show |
9 | 300 | 0.0300 | 7 | c.-12 others(28): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3040328 | G | GTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 NA19004.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0181 others(5): Show |
8 | 209 | 0.0383 | 7 | c.-12 others(26): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar |