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
CDK19_chr6_110604978_110820469	110734520	G G	GCTCTCTC others(9): Show GCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01943.hp1 others(8): Show HG01099.hp2 HG01109.hp1 HG01943.hp1 HG02109.hp2 HG02451.hp1 HG02886.hp1 HG02965.hp1 NA18944.hp2 NA18949.hp1 NA19064.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018	a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0004g0097 others(8): Show a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0004g0097 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0004 a0001c0001t0005g0006 a0001c0001t0005g0021 a0001c0001t0018g0074	11	300	0.0367	16	c.204 others(35): Show c.204+11590_204+11605dupAGAGAGAGAGAGAGAG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110759428	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0278 a0001c0001t0004g0278	1	300	0.0033	16	c.129 others(35): Show c.129-13228_129-13227insATATATATATATTTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110764952	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp2 others(116): Show HG00099.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0027 a0001c0001t0037 a0001c0001t0039	a0001c0001t0001g0036 a0001c0001t0001g0086 a0001c0001t0001g0139 others(116): Show a0001c0001t0001g0036 a0001c0001t0001g0086 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0277 a0001c0001t0002g0037 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0149 a0001c0001t0002g0179 a0001c0001t0002g0193 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0004g0108 a0001c0001t0004g0119 a0001c0001t0004g0199 a0001c0001t0004g0217 a0001c0001t0004g0220 a0001c0001t0006g0048 a0001c0001t0006g0140 a0001c0001t0006g0230 a0001c0001t0008g0143 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0161 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0008g0168 a0001c0001t0008g0174 a0001c0001t0008g0191 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0201 a0001c0001t0008g0202 a0001c0001t0008g0206 a0001c0001t0009g0289 a0001c0001t0009g0291 a0001c0001t0009g0294 a0001c0001t0009g0295 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0009g0299 a0001c0001t0010g0118 a0001c0001t0011g0133 a0001c0001t0011g0135 a0001c0001t0011g0136 a0001c0001t0011g0170 a0001c0001t0011g0186 a0001c0001t0011g0187 a0001c0001t0012g0087 a0001c0001t0012g0088 a0001c0001t0012g0089 a0001c0001t0012g0090 a0001c0001t0012g0091 a0001c0001t0017g0214 a0001c0001t0017g0215 a0001c0001t0018g0053 a0001c0001t0019g0147 a0001c0001t0025g0134 a0001c0001t0027g0172 a0001c0001t0037g0279 a0001c0001t0039g0290	119	300	0.3967	16	c.129 others(35): Show c.129-18767_129-18752dupATTTATTTATTTATTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK2AP1_chr12_123255976_123276856	123264462	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	328	0.0031	16	c.280 others(31): Show c.280+718_280+733dupTTTTTTTTTTTTTTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding	3/3			chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274754	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02071.hp1 HG02129.hp1 others(5): Show HG01243.hp1 HG02071.hp1 HG02129.hp1 HG02738.hp2 HG03834.hp1 NA19000.hp2 NA19064.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0120 a0001c0001t0001g0124	8	328	0.0244	16	c.-31 others(27): Show c.-3137_-3136insCTTCCTTCCTTCCTTC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2899		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274774	G G	GGAAGGAA others(9): Show GGAAGGAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	328	0.0031	16	c.-31 others(27): Show c.-3157_-3156insTTTCCTTCCTTCCTTC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2919		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274848	G G	GAAAGAGA others(9): Show GAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0102 a0001c0001t0010g0102	1	328	0.0031	16	c.-32 others(27): Show c.-3231_-3230insTTCTTTCTTTCTCTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2993		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274992	G G	GGCTGAGG others(9): Show GGCTGAGGTACTGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	328	0.0031	16	c.-33 others(27): Show c.-3375_-3374insACCTCAGTACCTCAGC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3137		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123275077	A A	AGGTGCTG others(9): Show AGGTGCTGAGGGGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	328	0.0031	16	c.-34 others(27): Show c.-3460_-3459insCCAGCCCCTCAGCACC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3222		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123275125	A A	AGGTGCTG others(9): Show AGGTGCTGAGGGGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03209.hp2 HG03225.hp2 HG01884.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0113 a0001c0001t0001g0038 a0001c0001t0001g0113	3	328	0.0092	16	c.-35 others(27): Show c.-3508_-3507insCCAGCCCCTCAGCACC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3270		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123275157	A A	AGGTGCTG others(9): Show AGGTGCTGAGGGGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18974.hp2 NA18977.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19067.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0007t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0004g0012 a0001c0001t0009g0046 a0001c0002t0001g0008 a0001c0002t0001g0037 a0001c0002t0001g0106 a0001c0007t0001g0059 a0002c0003t0002g0072	193	328	0.5884	16	c.-35 others(27): Show c.-3540_-3539insCCAGCCCCTCAGCACC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3302		chr12	TogoVar
CDK5R2_chr2_218954666_218967155	218966503	T T	TACACACA others(9): Show TACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	16	c.55 others(27): Show c.5579_*5580insACACACACACACACAC	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4349		chr2	TogoVar
CDK5RAP1_chr20_33353839_33406519	33373149	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 NA20752.hp2 HG02970.hp2 HG02976.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0146 a0001c0001t0001g0187 a0001c0001t0001g0188	3	358	0.0084	16	c.120 others(33): Show c.1206-468_1206-453dupACACACACACACACAC	CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding	9/13			chr20	TogoVar
CDK5RAP2_chr9_120383875_120585167	120452238	G G	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG02145.hp1 HG02809.hp2	a0006 a0008 a0006 a0008	a0006c0005 a0008c0008 a0006c0005 a0008c0008	a0006c0005t0001 a0008c0008t0001 a0006c0005t0001 a0008c0008t0001	a0006c0005t0001g0184 a0008c0008t0001g0062 a0006c0005t0001g0184 a0008c0008t0001g0062	2	232	0.0086	16	c.279 others(35): Show c.2793+1202_2793+1217dupGAGAGAGAGAGAGAGA	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	21/37			chr9	TogoVar
CDK5RAP3_chr17_47966113_47986781	47969580	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03453.hp2 HG03516.hp2 others(1): Show HG02630.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	4	394	0.0102	16	c.-15 others(27): Show c.-1567_-1566insAAAAAAAAAAAAAAAG	CDK5RAP3	ENSG00000108465.15	transcript	ENST00000338399.9	protein_coding		1532		chr17	TogoVar
CDK6_chr7_92599921_92841573	92630279	A A	ATTATTTA others(9): Show ATTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 NA18983.hp2 others(2): Show HG02280.hp1 HG02965.hp2 NA18983.hp2 NA19058.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 a0001c0001t0001 a0001c0001t0006 a0001c0001t0026	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0006g0091 a0001c0001t0026g0106	5	124	0.0403	16	c.648 others(33): Show c.648-7209_648-7194dupATAAATAAATAAATAA	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	5/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92672134	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	124	0.0081	16	c.538 others(31): Show c.538-615_538-600dupATATATATATATATAT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92672190	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	124	0.0081	16	c.538 others(31): Show c.538-671_538-656dupGTGTGTGTGTGTGTGT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92672242	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02109.hp1 others(6): Show HG01243.hp1 HG01884.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0042	a0001c0001t0004g0016 a0001c0001t0006g0089 a0001c0001t0008g0011 others(6): Show a0001c0001t0004g0016 a0001c0001t0006g0089 a0001c0001t0008g0011 a0001c0001t0011g0108 a0001c0001t0011g0110 a0001c0001t0024g0088 a0001c0001t0026g0106 a0001c0001t0032g0014 a0001c0001t0042g0037	9	124	0.0726	16	c.538 others(31): Show c.538-708_538-707insATGTGTGTGTGTGTGT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92711552	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0090 a0001c0001t0010g0090	1	124	0.0081	16	c.537 others(35): Show c.537+14058_537+14073dupAAAAAAAAAAAAAAAA	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92712878	G G	GTATGTAT others(9): Show GTATGTATGTATGTATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0014 a0001c0001t0032g0014	1	124	0.0081	16	c.537 others(35): Show c.537+12747_537+12748insAATACATACATACATA	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK7_chr5_69229886_69282430	69261524	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG03492.hp2 others(6): Show HG00639.hp1 HG01109.hp1 HG03492.hp2 HG03688.hp1 NA18940.hp1 NA18971.hp2 NA18983.hp2 NA19064.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0119 others(6): Show a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0119 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0173	9	375	0.0240	16	c.528 others(31): Show c.528-680_528-679insGTGTGTGTGTGTGTAT	CDK7	ENSG00000134058.12	transcript	ENST00000256443.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK8_chr13_26249129_26410238	26249758	C C	CATCCATC others(9): Show CATCCATCTATCTATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01069.hp1 others(25): Show HG00280.hp1 HG00558.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01261.hp2 HG01346.hp2 HG01943.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp1 HG02486.hp2 HG02717.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG04204.hp2 NA18948.hp2 NA18963.hp1 NA18975.hp2 NA18984.hp2 NA18991.hp1 NA19001.hp1 NA19007.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 others(25): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033	28	328	0.0854	16	c.-48 others(27): Show c.-4884_-4883insATCCATCTATCTATCT	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding		4370		chr13	TogoVar
CDK8_chr13_26249129_26410238	26249758	C C	CATCTATC others(9): Show CATCTATCTATCTATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01168.hp1 HG01257.hp1 others(5): Show HG01106.hp1 HG01168.hp1 HG01257.hp1 HG02965.hp1 NA19004.hp2 NA19030.hp1 NA19058.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0063 a0001c0001t0001g0209 a0001c0001t0001g0246 others(5): Show a0001c0001t0001g0063 a0001c0001t0001g0209 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0270 a0001c0001t0001g0291 a0001c0001t0002g0097 a0001c0001t0004g0090	8	328	0.0244	16	c.-48 others(27): Show c.-4884_-4883insATCTATCTATCTATCT	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding		4370		chr13	TogoVar
CDK8_chr13_26249129_26410238	26339695	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19054.hp1 NA19012.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0013 a0001c0001t0001g0034	2	328	0.0061	16	c.204 others(33): Show c.204+2073_204+2088dupATTTATTTATTTATTT	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26363327	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00609.hp2 others(62): Show HG00140.hp2 HG00558.hp1 HG00609.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01516.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp1 HG02523.hp2 HG02615.hp2 HG02735.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp2 NA19012.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(62): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0005g0140	65	328	0.1982	16	c.456 others(33): Show c.456+9461_456+9462insAAAAAAAAAAAAAAAA	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26408766	A A	AACACACA others(9): Show AACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 NA18522.hp1 NA21309.hp1 HG01884.hp1 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0195 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0195	3	328	0.0092	16	c.46 others(27): Show c.4685_*4686insACACACACACACACAC	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding		3529		chr13	TogoVar
CDKAL1_chr6_20529457_21237404	20616839	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02630.hp1 HG01934.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0005 a0001c0001t0015 a0001c0002t0005	a0001c0001t0015g0186 a0001c0002t0005g0064 a0001c0001t0015g0186 a0001c0002t0005g0064	2	196	0.0102	16	c.287 others(35): Show c.287-32426_287-32411dupACACACACACACACAC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20694044	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0192 a0001c0001t0031g0004 a0001c0001t0001g0192 a0001c0001t0031g0004	2	196	0.0102	16	c.371 others(35): Show c.371+44680_371+44681insATATGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20753957	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0034 a0001c0002t0013g0034	1	196	0.0051	16	c.469 others(33): Show c.469-4620_469-4605dupGTGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756866	T T	TTCTTCCT others(9): Show TTCTTCCTTCCTTCTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03471.hp2 HG01358.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0016 a0001c0005 a0003c0016	a0001c0005t0016 a0003c0016t0001 a0001c0005t0016 a0003c0016t0001	a0001c0005t0016g0086 a0003c0016t0001g0185 a0001c0005t0016g0086 a0003c0016t0001g0185	2	196	0.0102	16	c.469 others(33): Show c.469-1729_469-1728insTCTTCCTTCCTTCTCC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20784412	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0120 a0001c0001t0027g0120	1	196	0.0051	16	c.638 others(33): Show c.638+3161_638+3176dupTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20848287	T T	TTTTTTTT others(9): Show TTTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18956.hp1 HG02056.hp1 NA18956.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0046 a0002c0003t0002g0079 a0001c0002t0002g0046 a0002c0003t0002g0079	2	196	0.0102	16	c.742 others(33): Show c.742+2115_742+2116insTGTTTGTTTGTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20913116	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0161 a0001c0002t0005g0161	1	196	0.0051	16	c.743 others(35): Show c.743-42275_743-42260dupCACACACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20988182	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01257.hp2 HG01258.hp1 others(7): Show HG00544.hp2 HG01257.hp2 HG01258.hp1 HG01934.hp1 HG02145.hp2 NA18948.hp2 NA18966.hp2 NA18994.hp1 NA19010.hp1 NA19091.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0007 a0005c0015	a0001c0001t0001 a0001c0001t0024 a0001c0002t0044 others(5): Show a0001c0001t0001 a0001c0001t0024 a0001c0002t0044 a0001c0010t0007 a0002c0003t0002 a0002c0003t0005 a0002c0007t0005 a0005c0015t0010	a0001c0001t0001g0018 a0001c0001t0024g0158 a0001c0002t0044g0038 others(7): Show a0001c0001t0001g0018 a0001c0001t0024g0158 a0001c0002t0044g0038 a0001c0010t0007g0044 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0005g0036 a0002c0007t0005g0061 a0002c0007t0005g0062 a0005c0015t0010g0171	10	196	0.0510	16	c.910 others(35): Show c.910-12023_910-12008dupGTGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02258.hp1 HG02965.hp2 HG01516.hp2 HG02258.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0018 a0001c0002t0020 a0001c0005t0021 a0001c0001t0018 a0001c0002t0020 a0001c0005t0021	a0001c0001t0018g0005 a0001c0002t0020g0116 a0001c0005t0021g0026 a0001c0001t0018g0005 a0001c0002t0020g0116 a0001c0005t0021g0026	3	196	0.0153	16	c.105 others(35): Show c.1055+2985_1055+3000dupTATATATATATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(9): Show TATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	196	0.0051	16	c.105 others(35): Show c.1055+3000_1055+3001insTATATATACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01192.hp2 HG01943.hp1 others(10): Show HG00621.hp1 HG01192.hp2 HG01943.hp1 HG02132.hp2 HG02622.hp2 HG02897.hp1 HG03491.hp2 HG03834.hp1 NA18953.hp2 NA18983.hp1 NA18990.hp2 NA19002.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0004t0001 a0001c0010t0017	a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0126 others(10): Show a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0176 a0001c0001t0002g0124 a0001c0001t0008g0123 a0001c0001t0008g0159 a0001c0001t0015g0095 a0001c0002t0002g0195 a0001c0002t0003g0140 a0001c0002t0012g0039 a0001c0004t0001g0101 a0001c0010t0017g0194	13	196	0.0663	16	c.105 others(35): Show c.1055+3000_1055+3001insTATATATATATACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21079976	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01167.hp1 others(8): Show HG00642.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01358.hp1 HG01516.hp2 HG02273.hp1 HG02300.hp1 HG03130.hp2 HG03540.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0010 a0001c0001t0026 a0001c0002t0003 others(6): Show a0001c0001t0010 a0001c0001t0026 a0001c0002t0003 a0001c0002t0007 a0001c0002t0020 a0001c0002t0049 a0001c0005t0006 a0001c0005t0014 a0001c0005t0016	a0001c0001t0010g0051 a0001c0001t0026g0058 a0001c0002t0003g0008 others(8): Show a0001c0001t0010g0051 a0001c0001t0026g0058 a0001c0002t0003g0008 a0001c0002t0003g0020 a0001c0002t0003g0165 a0001c0002t0007g0154 a0001c0002t0020g0116 a0001c0002t0049g0059 a0001c0005t0006g0085 a0001c0005t0014g0093 a0001c0005t0016g0086	11	196	0.0561	16	c.123 others(37): Show c.1236+14766_1236+14781dupGTGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50380802	C C	CTTTGTTT others(9): Show CTTTGTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02615.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	306	0.0065	16	c.168 others(35): Show c.168+14898_168+14899insAAACAAAAAAAACAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL1_chr14_50321265_50401881	50380802	C C	CTTTGTTT others(9): Show CTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00597.hp1 others(102): Show HG00099.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18997.hp1 NA18997.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0070 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0090 a0001c0001t0096 a0001c0001t0098 a0001c0001t0103 a0001c0001t0106 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0118 a0001c0001t0119 a0001c0001t0121 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0027 a0002c0002t0028 a0002c0002t0079 a0002c0002t0089 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0095 a0002c0002t0101 a0002c0002t0105 a0002c0002t0126 a0008c0009t0009	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(101): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0002g0182 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0004g0128 a0001c0001t0006g0252 a0001c0001t0012g0056 a0001c0001t0012g0064 a0001c0001t0012g0070 a0001c0001t0017g0166 a0001c0001t0017g0167 a0001c0001t0017g0168 a0001c0001t0018g0011 a0001c0001t0019g0190 a0001c0001t0019g0193 a0001c0001t0019g0199 a0001c0001t0024g0101 a0001c0001t0026g0242 a0001c0001t0031g0093 a0001c0001t0032g0094 a0001c0001t0032g0095 a0001c0001t0034g0198 a0001c0001t0034g0218 a0001c0001t0036g0229 a0001c0001t0036g0230 a0001c0001t0037g0232 a0001c0001t0037g0233 a0001c0001t0070g0124 a0001c0001t0084g0161 a0001c0001t0085g0006 a0001c0001t0086g0172 a0001c0001t0090g0171 a0001c0001t0096g0028 a0001c0001t0098g0065 a0001c0001t0103g0174 a0001c0001t0106g0092 a0001c0001t0112g0178 a0001c0001t0113g0206 a0001c0001t0114g0196 a0001c0001t0118g0201 a0001c0001t0119g0180 a0001c0001t0121g0179 a0002c0002t0005g0023 a0002c0002t0005g0025 a0002c0002t0005g0047 a0002c0002t0005g0048 a0002c0002t0005g0050 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0007g0068 a0002c0002t0007g0071 a0002c0002t0007g0073 a0002c0002t0007g0074 a0002c0002t0007g0085 a0002c0002t0008g0002 a0002c0002t0008g0052 a0002c0002t0008g0080 a0002c0002t0009g0015 a0002c0002t0009g0049 a0002c0002t0009g0054 a0002c0002t0027g0007 a0002c0002t0027g0010 a0002c0002t0028g0075 a0002c0002t0079g0158 a0002c0002t0089g0169 a0002c0002t0091g0072 a0002c0002t0092g0083 a0002c0002t0093g0079 a0002c0002t0095g0046 a0002c0002t0101g0024 a0002c0002t0105g0090 a0002c0002t0126g0226 a0008c0009t0009g0089	105	306	0.3431	16	c.168 others(35): Show c.168+14898_168+14899insAAAAAAAAAAAACAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL2_chr4_75571496_75635528	75595976	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0280 a0001c0001t0005g0280	1	306	0.0033	16	c.141 others(33): Show c.1416+255_1416+270dupCTTCCTTCCTTCCTTC	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13			chr4	TogoVar
CDKL3_chr5_134293424_134372171	134296782	T T	TACACACA others(9): Show TACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	210	0.0048	16	c.18 others(27): Show c.1853_*1868dupGTGTGTGTGTGTGTGT	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding		1641		chr5	TogoVar
CDKL3_chr5_134293424_134372171	134326821	A A	ATATATAT others(9): Show ATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01981.hp2 HG02738.hp2 HG01109.hp2 HG01981.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0199 a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0199	3	210	0.0143	16	c.540 others(33): Show c.540-4919_540-4918insCACACACATATATATA	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12			chr5	TogoVar
CDKL4_chr2_39170646_39248970	39226447	A A	ATATATAT others(9): Show ATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	290	0.0035	16	c.169 others(31): Show c.169-488_169-487insATATATATAATATATA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	2/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18431423	C C	CTTTTCTT others(9): Show CTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0005 a0001c0001t0061g0005	1	192	0.0052	16	c.-16 others(35): Show c.-163+5732_-163+5733insCTTTTTTTTTTTTTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18481320	G G	GTTTCTTT others(9): Show GTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG03927.hp2 others(3): Show HG02965.hp1 HG03098.hp1 HG03927.hp2 NA18959.hp1 NA18966.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0001t0027	a0001c0001t0009g0132 a0001c0001t0009g0135 a0001c0001t0010g0173 others(3): Show a0001c0001t0009g0132 a0001c0001t0009g0135 a0001c0001t0010g0173 a0001c0001t0015g0187 a0001c0001t0022g0064 a0001c0001t0027g0167	6	192	0.0313	16	c.-16 others(37): Show c.-162-25579_-162-25564dupCTTTCTTTCTTTCTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCAC others(9): Show GCACGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0005 a0001c0001t0061g0005	1	192	0.0052	16	c.65- others(31): Show c.65-1620_65-1619insGCACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509199	A A	ACGCGCGC others(9): Show ACGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0168 a0001c0001t0033g0168	1	192	0.0052	16	c.65- others(31): Show c.65-1620_65-1619insGCGCGCGCGCGCGCGC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	C C	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02738.hp1 NA18612.hp1 others(1): Show HG02451.hp1 HG02738.hp1 NA18612.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0038 a0001c0001t0002 a0001c0001t0022 a0001c0001t0038	a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0022g0065 others(1): Show a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0022g0065 a0001c0001t0038g0131	4	192	0.0208	16	c.249 others(35): Show c.2496+1462_2496+1477dupTCTCTCTCTCTCTCTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar

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