Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CALB2_chr16_71353723_71395433	71380292	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG02148.hp1 HG01255.hp2 HG02055.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0194 a0002c0002t0002g0196 a0002c0002t0002g0063 a0002c0002t0002g0194 a0002c0002t0002g0196	3	187	0.0160	-17	c.343 others(34): Show c.343-2408_343-2392delTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48842899	AAATTAAA others(10): Show AAATTAAATGCTTTTTAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp2 HG03139.hp1 others(3): Show HG01891.hp1 HG02809.hp2 HG03139.hp1 HG03486.hp1 NA18906.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0007 a0002c0003t0001 a0002c0003t0007	a0002c0003t0001g0131 a0002c0003t0001g0138 a0002c0003t0001g0139 others(3): Show a0002c0003t0001g0131 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0315 a0002c0003t0007g0141	6	326	0.0184	-17	c.180 others(34): Show c.180+1014_180+1030delATTAAATGCTTTTTACA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858029	GAATAGAA others(10): Show GAATAGAATAGAATAGAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01515.hp2 HG01517.hp2 others(10): Show HG00673.hp1 HG01515.hp2 HG01517.hp2 HG02109.hp2 HG02145.hp2 HG02293.hp2 HG02622.hp1 HG02976.hp1 HG03225.hp1 HG03704.hp1 HG03927.hp1 NA18960.hp1 NA18981.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0005 a0004c0004t0012 others(2): Show a0004c0004t0003 a0004c0004t0005 a0004c0004t0012 a0004c0004t0016 a0004c0004t0019	a0004c0004t0003g0077 a0004c0004t0003g0078 a0004c0004t0003g0083 others(10): Show a0004c0004t0003g0077 a0004c0004t0003g0078 a0004c0004t0003g0083 a0004c0004t0003g0089 a0004c0004t0003g0117 a0004c0004t0003g0118 a0004c0004t0003g0119 a0004c0004t0005g0104 a0004c0004t0005g0105 a0004c0004t0005g0109 a0004c0004t0012g0075 a0004c0004t0016g0001 a0004c0004t0019g0099	13	324	0.0401	-17	c.100 others(36): Show c.1008+1860_1008+1876delAATAGAATAGAATAGAA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALD1_chr7_134774634_134975729	134805694	GAAAATGG others(10): Show GAAAATGGGCCAGTTATC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01081.hp2 others(16): Show HG00642.hp2 HG00733.hp2 HG01081.hp2 HG01361.hp2 HG02145.hp2 HG02258.hp1 HG02922.hp2 HG02970.hp1 HG03471.hp2 HG03490.hp2 HG04204.hp2 NA18522.hp2 NA18954.hp1 NA18983.hp1 NA18994.hp1 NA19005.hp1 NA19030.hp2 NA19060.hp1 NA19064.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0019 a0002c0003t0001 a0004c0005t0002 a0004c0005t0016	a0001c0001t0001g0023 a0001c0001t0002g0039 a0001c0001t0003g0003 others(15): Show a0001c0001t0001g0023 a0001c0001t0002g0039 a0001c0001t0003g0003 a0001c0001t0003g0091 a0001c0001t0003g0170 a0002c0002t0001g0040 a0002c0002t0001g0168 a0002c0002t0003g0007 a0002c0002t0003g0037 a0002c0002t0003g0221 a0002c0002t0003g0249 a0002c0002t0004g0050 a0002c0002t0004g0169 a0002c0002t0004g0259 a0002c0002t0019g0049 a0002c0003t0001g0038 a0004c0005t0002g0002 a0004c0005t0016g0002	19	260	0.0731	-17	c.-13 others(38): Show c.-130+25946_-130+25962delAAAATGGGCCAGTTATC	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	1/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134857158	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG03540.hp2 others(2): Show HG02258.hp2 HG02922.hp1 HG03540.hp2 NA18906.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008	a0002c0002t0001g0033 a0002c0002t0004g0129 a0002c0002t0004g0131 others(2): Show a0002c0002t0001g0033 a0002c0002t0004g0129 a0002c0002t0004g0131 a0002c0002t0004g0162 a0002c0002t0008g0161	5	56	0.0893	-17	c.-41 others(36): Show c.-41-10524_-41-10508delTTTTTTTTTTTTTTTTT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CALM2_chr2_47155084_47181511	47167693	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	48	0.0208	-17	c.34+ others(32): Show c.34+3024_34+3040delTTTTTTTTTTTTTTTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALN1_chr7_71774491_72417338	71902253	CAACCAAC others(10): Show CAACCAACCAACCAATCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0135 a0001c0001t0053g0135	1	142	0.0070	-17	c.502 others(36): Show c.502-91778_502-91762delTGATTGGTTGGTTGGTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71960166	TAAATAAA others(10): Show TAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18942.hp2 NA18961.hp2 HG03225.hp2 NA18942.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0038 a0001c0001t0053 a0001c0001t0031 a0001c0001t0038 a0001c0001t0053	a0001c0001t0031g0025 a0001c0001t0038g0024 a0001c0001t0053g0135 a0001c0001t0031g0025 a0001c0001t0038g0024 a0001c0001t0053g0135	3	142	0.0211	-17	c.501 others(36): Show c.501+63474_501+63490delTATTTATTTATTTATTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71971948	AAAAAAAA others(10): Show AAAAAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0127 a0001c0001t0046g0127	1	133	0.0075	-17	c.501 others(36): Show c.501+51692_501+51708delCTTTCTTTCTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72108642	ACTCCTGC others(10): Show ACTCCTGCCTTTCCCTAC	A A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0024 a0001c0001t0038g0024	1	142	0.0070	-17	c.245 others(34): Show c.245-2365_245-2349delGTAGGGAAAGGCAGGAG	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72118685	GATGAGAT others(10): Show GATGAGATTTAAATATGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(44): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG02015.hp2 HG02055.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02300.hp1 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18975.hp1 NA18990.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0051	a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0061 others(44): Show a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0003g0058 a0001c0001t0003g0124 a0001c0001t0004g0064 a0001c0001t0004g0086 a0001c0001t0006g0018 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0009g0029 a0001c0001t0009g0102 a0001c0001t0012g0010 a0001c0001t0016g0032 a0001c0001t0017g0028 a0001c0001t0018g0122 a0001c0001t0020g0092 a0001c0001t0020g0093 a0001c0001t0025g0016 a0001c0001t0026g0011 a0001c0001t0028g0015 a0001c0001t0031g0025 a0001c0001t0035g0055 a0001c0001t0037g0087 a0001c0001t0038g0024 a0001c0001t0040g0123 a0001c0001t0042g0067 a0001c0001t0045g0063 a0001c0001t0051g0132	47	142	0.3310	-17	c.245 others(36): Show c.245-12408_245-12392delACATATTTAAATCTCAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72247227	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	16	0.0625	-17	c.244 others(36): Show c.244+31442_244+31458delAAAAAAAAAAAAAAAAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72308371	GGGAGAGA others(10): Show GGGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0129 a0001c0001t0048g0129	1	142	0.0070	-17	c.120 others(36): Show c.120-29578_120-29562delTCTCTCTCTCTCTCTCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALU_chr7_128734359_128778400	128772058	TTTTTGTT others(10): Show TTTTTGTTTTTTTTTTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(47): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01981.hp2 HG02074.hp2 HG02080.hp2 HG02257.hp2 HG02559.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG04184.hp1 HG04228.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18995.hp2 NA19072.hp1 NA19090.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022 a0001c0001t0038 a0001c0001t0039	a0001c0001t0003g0008 a0001c0001t0003g0031 a0001c0001t0003g0099 others(40): Show a0001c0001t0003g0008 a0001c0001t0003g0031 a0001c0001t0003g0099 a0001c0001t0003g0187 a0001c0001t0003g0226 a0001c0001t0003g0251 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0009g0014 a0001c0001t0009g0016 a0001c0001t0009g0078 a0001c0001t0009g0086 a0001c0001t0009g0088 a0001c0001t0009g0094 a0001c0001t0009g0101 a0001c0001t0021g0015 a0001c0001t0022g0098 a0001c0001t0022g0188 a0001c0001t0038g0079 a0001c0001t0039g0100	50	336	0.1488	-17	c.29 others(28): Show c.2901_*2917delTTTTTTTGTTTTGTTTT	CALU	ENSG00000128595.17	transcript	ENST00000249364.9	protein_coding	7/7	2901	INFO_REALIGN_3_PRIME	chr7	TogoVar
CALY_chr10_133319072_133341896	133334353	AGGGGGGA others(10): Show AGGGGGGAAGGCTCTGAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02809.hp2 others(16): Show HG02280.hp2 HG02451.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0035 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0003g0159	19	248	0.0766	-17	c.-21 others(34): Show c.-21+2464_-21+2480delCTCAGAGCCTTCCCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12722446	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0036 a0001c0002t0027g0036	1	18	0.0556	-17	c.300 others(36): Show c.300-38489_300-38473delAAAAAAAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12740963	AGGCAATT others(10): Show AGGCAATTTCAGATAATT	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18990.hp1 NA18999.hp2 others(1): Show NA18974.hp2 NA18990.hp1 NA18999.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0015 a0001c0002t0021 others(1): Show a0001c0001t0001 a0001c0002t0015 a0001c0002t0021 a0001c0002t0067	a0001c0001t0001g0051 a0001c0002t0015g0148 a0001c0002t0021g0048 others(1): Show a0001c0001t0001g0051 a0001c0002t0015g0148 a0001c0002t0021g0048 a0001c0002t0067g0053	4	214	0.0187	-17	c.300 others(36): Show c.300-19982_300-19966delCAATTTCAGATAATTGG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827461	TTTGTCTG others(10): Show TTTGTCTGTCTGTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01168.hp2 others(9): Show HG00735.hp2 HG01099.hp1 HG01168.hp2 HG02040.hp1 HG02132.hp2 HG03491.hp2 HG03669.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18955.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0036 a0001c0001t0037 a0001c0001t0081 a0001c0001t0100	a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0095 others(9): Show a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0002g0003 a0001c0001t0002g0171 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0018g0013 a0001c0001t0036g0125 a0001c0001t0037g0011 a0001c0001t0081g0096 a0001c0001t0100g0135	12	194	0.0619	-17	c.104 others(36): Show c.1040-1305_1040-1289delGTCTGTCTGTCTTTCTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1_chr3_9752347_9774947	9761341	TGGAAGGA others(10): Show TGGAAGGAAGGGAGGGAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	424	0.0024	-17	c.632 others(32): Show c.632+103_632+119delCTCCCTCCCTTCCTTCC	CAMK1	ENSG00000134072.11	transcript	ENST00000256460.8	protein_coding	7/11			chr3	TogoVar
CAMK2A_chr5_150214491_150294773	150219628	TAAAAAAG others(10): Show TAAAAAAGAAAAGAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00597.hp1 others(39): Show HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp1 HG02602.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18950.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18983.hp1 NA18990.hp2 NA18999.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19066.hp1 NA19074.hp2 NA19083.hp2 NA19085.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0007 a0001c0001t0023 others(13): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0023 a0001c0001t0028 a0001c0001t0031 a0001c0001t0037 a0001c0001t0055 a0001c0001t0060 a0001c0001t0072 a0001c0001t0076 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0028 a0001c0002t0059 a0001c0004t0004	a0001c0001t0004g0120 a0001c0001t0007g0087 a0001c0001t0023g0098 others(37): Show a0001c0001t0004g0120 a0001c0001t0007g0087 a0001c0001t0023g0098 a0001c0001t0023g0155 a0001c0001t0023g0218 a0001c0001t0028g0044 a0001c0001t0031g0159 a0001c0001t0031g0188 a0001c0001t0037g0045 a0001c0001t0037g0206 a0001c0001t0055g0094 a0001c0001t0060g0200 a0001c0001t0072g0208 a0001c0001t0076g0070 a0001c0002t0004g0007 a0001c0002t0004g0085 a0001c0002t0004g0123 a0001c0002t0004g0148 a0001c0002t0004g0167 a0001c0002t0004g0168 a0001c0002t0004g0169 a0001c0002t0006g0011 a0001c0002t0006g0114 a0001c0002t0006g0138 a0001c0002t0006g0178 a0001c0002t0006g0203 a0001c0002t0006g0228 a0001c0002t0006g0263 a0001c0002t0006g0277 a0001c0002t0007g0054 a0001c0002t0007g0091 a0001c0002t0007g0102 a0001c0002t0007g0163 a0001c0002t0007g0204 a0001c0002t0007g0251 a0001c0002t0007g0253 a0001c0002t0028g0201 a0001c0002t0059g0065 a0001c0004t0004g0101 a0001c0004t0004g0106	42	336	0.1250	-17	c.30 others(28): Show c.3065_*3081delTTTTTCTTTTCTTTTTT	CAMK2A	ENSG00000070808.17	transcript	ENST00000671881.1	protein_coding	19/19	3065		chr5	TogoVar
CAMK2B_chr7_44212154_44330594	44224253	ACCCCAGC others(10): Show ACCCCAGCTCAACCCAGC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp1 HG01169.hp1 others(8): Show HG01123.hp1 HG01168.hp1 HG01169.hp1 NA18942.hp1 NA18977.hp2 NA18983.hp1 NA19002.hp1 NA19057.hp2 NA19081.hp2 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 a0001c0003 a0001c0004 a0001c0006	a0001c0003t0006 a0001c0004t0006 a0001c0006t0006 a0001c0003t0006 a0001c0004t0006 a0001c0006t0006	a0001c0003t0006g0003 a0001c0003t0006g0041 a0001c0003t0006g0055 others(7): Show a0001c0003t0006g0003 a0001c0003t0006g0041 a0001c0003t0006g0055 a0001c0003t0006g0226 a0001c0004t0006g0100 a0001c0006t0006g0138 a0001c0006t0006g0152 a0001c0006t0006g0154 a0001c0006t0006g0166 a0001c0006t0006g0174	11	240	0.0458	-17	c.159 others(36): Show c.1597+2246_1597+2262delGCTGGGTTGAGCTGGGG	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	20/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227232	GGGGAAGT others(10): Show GGGGAAGTGGAAGACAGA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0181 a0002c0005t0001g0181	1	240	0.0042	-17	c.146 others(34): Show c.1469-605_1469-589delTCTGTCTTCCACTTCCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK4_chr5_111219384_111499886	111287851	AATGAAAT others(10): Show AATGAAATATTGTTAAGC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0106 a0001c0002t0001 a0001c0002t0106	a0001c0002t0001g0120 a0001c0002t0106g0095 a0001c0002t0001g0120 a0001c0002t0106g0095	2	244	0.0082	-17	c.162 others(36): Show c.162-56171_162-56155delTGAAATATTGTTAAGCA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK1_chr17_3855315_3898053	3871333	GTTTTTTT others(10): Show GTTTTTTTTTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0357 a0001c0003t0003g0357	1	361	0.0028	-17	c.112 others(36): Show c.1124+1204_1124+1220delAAACAAAAAAAAAAAAA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	12/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44445645	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18993.hp1 HG03195.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0134 a0001c0001t0001g0013 a0001c0001t0001g0134	2	10	0.2000	-17	c.376 others(36): Show c.376+55372_376+55388delTTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44507728	TAGAGTAG others(10): Show TAGAGTAGTGCTACTCAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	198	0.0051	-17	c.376 others(38): Show c.376+117426_376+117442delAGTAGTGCTACTCAAAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAND1_chr12_67264358_67324953	67282343	GTTGAGTT others(10): Show GTTGAGTTAAAGGCCTAC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp1 HG01261.hp1 others(26): Show HG01069.hp2 HG01109.hp1 HG01261.hp1 HG01361.hp1 HG01891.hp1 HG01993.hp2 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 others(9): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0028 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046	a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0064 others(21): Show a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0064 a0001c0001t0007g0090 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0012g0005 a0001c0001t0012g0060 a0001c0001t0018g0023 a0001c0001t0018g0098 a0001c0001t0023g0091 a0001c0001t0023g0097 a0001c0001t0028g0065 a0001c0001t0028g0066 a0001c0001t0036g0005 a0001c0001t0037g0063 a0001c0001t0038g0005 a0001c0001t0039g0005 a0001c0001t0040g0005 a0001c0001t0045g0067 a0001c0001t0046g0039	29	326	0.0890	-17	c.212 others(32): Show c.212+293_212+309delGAGTTAAAGGCCTACTT	CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
CANT1_chr17_78986716_79014764	79005098	GAGGGGGG others(10): Show GAGGGGGGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02717.hp2 others(10): Show HG02109.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0002t0002 a0002c0004t0001 a0001c0001t0004 a0001c0002t0002 a0002c0004t0001	a0001c0001t0004g0004 a0001c0001t0004g0161 a0001c0001t0004g0209 others(2): Show a0001c0001t0004g0004 a0001c0001t0004g0161 a0001c0001t0004g0209 a0001c0002t0002g0044 a0002c0004t0001g0021	13	364	0.0357	-17	c.-14 others(36): Show c.-147+4549_-147+4565delTTCTCCCTAACCCCCCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005129	AGGGGATT others(10): Show AGGGGATTTAGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02559.hp1 NA18906.hp2 others(1): Show HG02132.hp1 HG02559.hp1 NA18906.hp2 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010	a0001c0003t0002g0091 a0001c0003t0006g0054 a0001c0003t0010g0092 a0001c0003t0002g0091 a0001c0003t0006g0054 a0001c0003t0010g0092	4	379	0.0106	-17	c.-14 others(36): Show c.-147+4518_-147+4534delCCCCTCCCTAAATCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAP2_chr6_17388595_17562780	17461992	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp2 HG02622.hp1 others(6): Show HG01496.hp2 HG02145.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02976.hp2 HG03139.hp1 NA18522.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0005c0015	a0001c0001t0001 a0001c0003t0001 a0002c0004t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0004t0002 a0005c0015t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0001g0065 others(6): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0001g0065 a0001c0003t0001g0072 a0001c0003t0001g0075 a0001c0003t0001g0090 a0002c0004t0002g0083 a0002c0004t0002g0085 a0005c0015t0001g0070	9	49	0.1837	-17	c.223 others(32): Show c.223-989_223-973delAAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN13_chr2_30717771_30812446	30759067	CCTCCTCC others(10): Show CCTCCTCCCTCCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	382	0.0026	-17	c.775 others(32): Show c.775-947_775-931delAGGAAGGGAGGGAGGAG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN15_chr16_522712_559636	550700	GGTCGGTG others(10): Show GGTCGGTGAGGGTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG00735.hp1 HG01167.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0015 a0001c0004 a0002c0015	a0001c0004t0001 a0002c0015t0001 a0001c0004t0001 a0002c0015t0001	a0001c0004t0001g0019 a0002c0015t0001g0020 a0001c0004t0001g0019 a0002c0015t0001g0020	2	407	0.0049	-17	c.206 others(34): Show c.2067-585_2067-569delTGTCGGTGAGGGTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551088	GCCCCGGT others(10): Show GCCCCGGTCGGTGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0024 a0015c0027t0024	a0015c0027t0024g0272 a0015c0027t0024g0272	1	398	0.0025	-17	c.206 others(34): Show c.2067-197_2067-181delTCCCCGGTCGGTGAGGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551142	GGTCGGTG others(10): Show GGTCGGTGAGGGCGCCCC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18947.hp1 NA18962.hp2 others(5): Show NA18945.hp2 NA18947.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18984.hp2 NA18986.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0019 a0001c0004t0001 a0001c0004t0003 a0001c0002t0019 a0001c0004t0001 a0001c0004t0003	a0001c0002t0019g0396 a0001c0004t0001g0216 a0001c0004t0003g0043 others(5): Show a0001c0002t0019g0396 a0001c0004t0001g0216 a0001c0004t0003g0043 a0001c0004t0003g0376 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0004t0003g0379 a0001c0004t0003g0380	8	407	0.0197	-17	c.206 others(34): Show c.2067-148_2067-132delCGCCCCGTCGGTGAGGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551186	GCCCCGGT others(10): Show GCCCCGGTCGGTGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	399	0.0025	-17	c.206 others(33): Show c.2067-111_2067-95delGGTCGGTGAGGGTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551220	TCCCGGTC others(10): Show TCCCGGTCAGTGAGGGTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp1 HG02145.hp2 others(15): Show HG00140.hp2 HG01433.hp1 HG02145.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp2 HG03540.hp2 NA18947.hp2 NA18955.hp1 NA18975.hp1 NA19003.hp1 NA19030.hp1 NA19043.hp2 NA19077.hp1 NA19086.hp1 NA19087.hp1 NA20129.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0009 a0010 a0023	a0001c0005 a0001c0006 a0003c0010 others(7): Show a0001c0005 a0001c0006 a0003c0010 a0003c0011 a0003c0039 a0003c0040 a0005c0038 a0009c0020 a0010c0065 a0023c0041	a0001c0005t0002 a0001c0006t0001 a0003c0010t0001 others(9): Show a0001c0005t0002 a0001c0006t0001 a0003c0010t0001 a0003c0011t0001 a0003c0011t0006 a0003c0011t0017 a0003c0039t0001 a0003c0040t0001 a0005c0038t0001 a0009c0020t0006 a0010c0065t0002 a0023c0041t0004	a0001c0005t0002g0026 a0001c0006t0001g0038 a0003c0010t0001g0022 others(15): Show a0001c0005t0002g0026 a0001c0006t0001g0038 a0003c0010t0001g0022 a0003c0010t0001g0032 a0003c0010t0001g0033 a0003c0010t0001g0034 a0003c0010t0001g0347 a0003c0011t0001g0039 a0003c0011t0006g0137 a0003c0011t0006g0200 a0003c0011t0017g0199 a0003c0039t0001g0031 a0003c0040t0001g0301 a0005c0038t0001g0035 a0009c0020t0006g0146 a0009c0020t0006g0147 a0010c0065t0002g0091 a0023c0041t0004g0383	18	398	0.0452	-17	c.206 others(32): Show c.2067-74_2067-58delAGTGAGGGTCCCCGGTC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223718999	GACAGACT others(10): Show GACAGACTGTGAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG01993.hp2 others(14): Show HG01109.hp1 HG01261.hp2 HG01993.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18961.hp1 NA18999.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0015	a0001c0002 a0001c0003 a0001c0010 others(4): Show a0001c0002 a0001c0003 a0001c0010 a0001c0020 a0004c0009 a0007c0017 a0015c0041	a0001c0002t0001 a0001c0003t0002 a0001c0010t0003 others(5): Show a0001c0002t0001 a0001c0003t0002 a0001c0010t0003 a0001c0020t0001 a0004c0009t0001 a0004c0009t0003 a0007c0017t0007 a0015c0041t0001	a0001c0002t0001g0033 a0001c0002t0001g0311 a0001c0002t0001g0312 others(12): Show a0001c0002t0001g0033 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0315 a0001c0002t0001g0334 a0001c0003t0002g0317 a0001c0010t0003g0003 a0001c0010t0003g0313 a0001c0010t0003g0314 a0001c0020t0001g0285 a0004c0009t0001g0032 a0004c0009t0003g0310 a0004c0009t0003g0316 a0007c0017t0007g0333 a0015c0041t0001g0332	17	376	0.0452	-17	c.307 others(34): Show c.307+1172_307+1188delGACTGTGAGGAAGAACA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN2_chr1_223707539_223781018	223741423	ATATATAT others(10): Show ATATATATATATAATGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0001 a0015c0041t0001	a0015c0041t0001g0332 a0015c0041t0001g0332	1	376	0.0027	-17	c.308 others(34): Show c.308-2664_308-2648delATGTGTATATATATATA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN7_chr3_15201246_15257916	15251861	AAGATGCT others(10): Show AAGATGCTCATGCCTAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0015	1	374	0.0027	-17	c.60 others(26): Show c.603_*619delGATGCTCATGCCTAAGA	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	603	INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(10): Show CAAAGAAAGAAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0233 a0005c0008t0001g0233	1	282	0.0035	-17	c.214 others(34): Show c.214-3749_214-3733delAGAAAGAAAGAAAGAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751594	AAAGAAAG others(10): Show AAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG01071.hp2 others(3): Show HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01433.hp2 HG02071.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0215 a0001c0001t0001g0362 a0001c0002t0001g0004 others(1): Show a0001c0001t0001g0215 a0001c0001t0001g0362 a0001c0002t0001g0004 a0001c0002t0001g0216	6	334	0.0180	-17	c.214 others(34): Show c.214-3740_214-3724delGAAAGAAAGAAAGAGAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800217	AAATAAGA others(10): Show AAATAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG01891.hp1 others(23): Show HG01106.hp1 HG01433.hp1 HG01891.hp1 HG01934.hp2 HG02004.hp1 HG02071.hp2 HG02132.hp2 HG02300.hp1 HG02615.hp1 HG02698.hp1 HG03688.hp2 HG03831.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18948.hp1 NA18981.hp2 NA18988.hp2 NA19010.hp1 NA19054.hp2 NA19067.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0012	a0001c0002 a0001c0003 a0001c0017 others(4): Show a0001c0002 a0001c0003 a0001c0017 a0003c0004 a0003c0022 a0004c0007 a0012c0021	a0001c0002t0001 a0001c0003t0001 a0001c0017t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0017t0001 a0003c0004t0001 a0003c0022t0001 a0004c0007t0001 a0012c0021t0001	a0001c0002t0001g0164 a0001c0003t0001g0005 a0001c0003t0001g0025 others(23): Show a0001c0002t0001g0164 a0001c0003t0001g0005 a0001c0003t0001g0025 a0001c0003t0001g0321 a0001c0003t0001g0332 a0001c0003t0001g0336 a0001c0003t0001g0343 a0001c0003t0001g0345 a0001c0003t0001g0347 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0001g0356 a0001c0017t0001g0348 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0094 a0003c0004t0001g0115 a0003c0004t0001g0123 a0003c0004t0001g0124 a0003c0004t0001g0134 a0003c0004t0001g0259 a0003c0004t0001g0263 a0003c0004t0001g0299 a0003c0022t0001g0118 a0004c0007t0001g0218 a0012c0021t0001g0133	26	349	0.0745	-17	c.204 others(36): Show c.2047-1350_2047-1334delTAAGAAAGAAAGAAGAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPS2_chr12_75270979_75335324	75311707	AAAAACAA others(10): Show AAAAACAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02109.hp2 HG02280.hp1 others(2): Show HG00609.hp2 HG02109.hp2 HG02280.hp1 HG02647.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 others(2): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0002g0240 a0001c0001t0022g0228	5	368	0.0136	-17	c.545 others(34): Show c.545+1124_545+1140delGTTTTTTTTTTTGTTTT	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16			chr12	TogoVar
CAPZA1_chr1_112614832_112676616	112627636	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	30	0.0333	-17	c.39+ others(32): Show c.39+7767_39+7783delAAAAAAAAAAAAAAAAA	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02280.hp1 others(12): Show HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 NA18972.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0002t0030 others(1): Show a0001c0001t0002 a0001c0002t0005 a0001c0002t0030 a0001c0002t0031	a0001c0001t0002g0137 a0001c0002t0005g0003 a0001c0002t0005g0088 others(11): Show a0001c0001t0002g0137 a0001c0002t0005g0003 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0091 a0001c0002t0005g0092 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0002t0005g0095 a0001c0002t0005g0097 a0001c0002t0005g0099 a0001c0002t0005g0101 a0001c0002t0030g0100 a0001c0002t0031g0090	15	18	0.8333	-17	c.40- others(32): Show c.40-7409_40-7393delTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890522	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	351	0.0028	-17	c.103 others(34): Show c.103+2334_103+2350delAAATATATATATATATA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19471865	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02055.hp2 HG00099.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0001g0087 a0001c0001t0001g0120	2	259	0.0077	-17	c.3+1 others(32): Show c.3+13554_3+13570delTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CARD19_chr9_93091217_93118283	93113539	ACACACAC others(10): Show ACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	354	0.0028	-17	c.43 others(26): Show c.433_*449delCACACACACACACACAC	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		257		chr9	TogoVar
CARNS1_chr11_67410678_67430604	67427073	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00558.hp2 others(42): Show HG00140.hp1 HG00558.hp1 HG00558.hp2 HG01109.hp1 HG01169.hp1 HG01928.hp1 HG01981.hp2 HG02015.hp1 HG02135.hp2 HG02165.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03486.hp1 HG03654.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18950.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp2 NA18982.hp1 NA18983.hp1 NA18993.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19083.hp1 NA19084.hp2 NA19088.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0015	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0023 a0001c0026 a0002c0002 a0002c0013 a0011c0014 a0015c0017	a0001c0001t0001 a0001c0001t0014 a0001c0003t0006 others(17): Show a0001c0001t0001 a0001c0001t0014 a0001c0003t0006 a0001c0003t0009 a0001c0003t0012 a0001c0003t0016 a0001c0003t0039 a0001c0003t0042 a0001c0003t0043 a0001c0004t0013 a0001c0004t0035 a0001c0005t0004 a0001c0005t0022 a0001c0023t0009 a0001c0026t0025 a0002c0002t0026 a0002c0002t0028 a0002c0013t0004 a0011c0014t0003 a0015c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0014g0001 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0014g0001 a0001c0001t0014g0007 a0001c0003t0006g0003 a0001c0003t0009g0003 a0001c0003t0012g0003 a0001c0003t0016g0003 a0001c0003t0039g0003 a0001c0003t0042g0003 a0001c0003t0043g0041 a0001c0004t0013g0026 a0001c0004t0035g0009 a0001c0005t0004g0006 a0001c0005t0004g0020 a0001c0005t0004g0022 a0001c0005t0004g0028 a0001c0005t0004g0033 a0001c0005t0004g0049 a0001c0005t0022g0006 a0001c0023t0009g0003 a0001c0026t0025g0046 a0002c0002t0026g0056 a0002c0002t0028g0055 a0002c0013t0004g0051 a0011c0014t0003g0005 a0015c0017t0001g0001	45	85	0.5294	-17	c.24 others(28): Show c.2473_*2489delTTTTTTTTTTTTTTTTT	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding		1470		chr11	TogoVar
CARS1_chr11_2995929_3062423	3018045	TTGGTAAA others(10): Show TTGGTAAAAATCTGAAAG	T T	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0262 a0003c0006t0001g0262	1	320	0.0031	-17	c.163 others(33): Show c.1630-108_1630-92delCTTTCAGATTTTTACCA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	14/22			chr11	TogoVar

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