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	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
CARMIL1_chr6_25274374_25625530	25480729	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG06807.hp1 others(3): Show HG02486.hp1 HG02615.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0022 a0001c0002t0001 a0001c0002t0005 a0001c0002t0022	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0105 others(3): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0105 a0001c0002t0005g0175 a0001c0002t0005g0180 a0001c0002t0022g0164	6	186	0.0323	-10	c.875 others(27): Show c.875-1518_875-1509delTTTTTTTTTT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	11/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp2 HG03486.hp1 HG02109.hp2 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0015 a0001c0033t0001 a0001c0001t0015 a0001c0033t0001	a0001c0001t0015g0176 a0001c0001t0015g0184 a0001c0033t0001g0124 a0001c0001t0015g0176 a0001c0001t0015g0184 a0001c0033t0001g0124	3	186	0.0161	-10	c.206 others(27): Show c.2067+883_2067+892delAAAAAAAAAA		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25551183	ATGTGTTT others(3): Show ATGTGTTTAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01106.hp1 others(22): Show HG00323.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp2 HG01361.hp1 HG01433.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02572.hp2 HG02735.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0003 a0001c0004 a0001c0006 others(6): Show a0001c0003 a0001c0004 a0001c0006 a0001c0015 a0001c0031 a0003c0024 a0004c0011 a0005c0019 a0008c0035	a0001c0003t0004 a0001c0003t0010 a0001c0003t0023 others(14): Show a0001c0003t0004 a0001c0003t0010 a0001c0003t0023 a0001c0004t0002 a0001c0004t0004 a0001c0004t0012 a0001c0004t0014 a0001c0004t0018 a0001c0006t0004 a0001c0006t0014 a0001c0015t0004 a0001c0031t0004 a0003c0024t0008 a0004c0011t0006 a0005c0019t0001 a0005c0019t0005 a0008c0035t0004	a0001c0003t0004g0092 a0001c0003t0010g0185 a0001c0003t0023g0161 others(22): Show a0001c0003t0004g0092 a0001c0003t0010g0185 a0001c0003t0023g0161 a0001c0004t0002g0079 a0001c0004t0004g0023 a0001c0004t0004g0036 a0001c0004t0004g0039 a0001c0004t0004g0040 a0001c0004t0004g0048 a0001c0004t0004g0096 a0001c0004t0004g0115 a0001c0004t0004g0121 a0001c0004t0012g0177 a0001c0004t0014g0150 a0001c0004t0014g0178 a0001c0004t0018g0093 a0001c0006t0004g0062 a0001c0006t0014g0149 a0001c0015t0004g0098 a0001c0031t0004g0004 a0003c0024t0008g0019 a0004c0011t0006g0044 a0005c0019t0001g0034 a0005c0019t0005g0139 a0008c0035t0004g0107	25	186	0.1344	-10	c.250 others(26): Show c.2504+99_2504+108delTGTGTTTAGG		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	27/36						chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25576314	AAATTCCC others(3): Show AAATTCCCACT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18979.hp1 NA18998.hp1 HG00673.hp2 NA18979.hp1 NA18998.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0003 a0003c0010t0003 a0001c0001t0003 a0003c0010t0003	a0001c0001t0003g0054 a0001c0001t0003g0064 a0003c0010t0003g0104 a0001c0001t0003g0054 a0001c0001t0003g0064 a0003c0010t0003g0104	3	186	0.0161	-10	c.274 others(29): Show c.2743-4607_2743-4598delTTCCCACTAA		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	29/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNMT1_chr9_74975790_75033293	75005827	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01346.hp1 HG01884.hp2 others(24): Show HG00438.hp2 HG01346.hp1 HG01884.hp2 HG01943.hp2 HG02074.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG03098.hp1 HG03130.hp2 HG03579.hp2 NA18941.hp2 NA18944.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18961.hp2 NA18970.hp2 NA18973.hp2 NA18990.hp1 NA18995.hp1 NA19057.hp2 NA19074.hp1 NA19085.hp2 NA19090.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0004c0003t0003	a0001c0001t0001g0049 a0001c0001t0001g0204 a0001c0001t0002g0021 others(21): Show a0001c0001t0001g0049 a0001c0001t0001g0204 a0001c0001t0002g0021 a0001c0001t0002g0063 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0003g0005 a0001c0001t0003g0211 a0001c0001t0003g0235 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0005g0203 a0001c0001t0005g0216 a0001c0001t0011g0279 a0004c0003t0003g0029	27	366	0.0738	-10	c.591 others(27): Show c.591-5967_591-5958delGTGTGTGTGT		CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7						chr9	TogoVar
CARNMT1_chr9_74975790_75033293	75032865	GTGCACCA others(3): Show GTGCACCACCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	366	0.0027	-10	c.-46 others(21): Show c.-4634_-4625delTGGTGGTGCA		CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding					4573		chr9	TogoVar
CARNMT1_chr9_74975790_75033293	75032887	TTTTTTTT others(3): Show TTTTTTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	366	0.0027	-10	c.-46 others(21): Show c.-4656_-4647delGAAAAAAAAA		CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding					4595		chr9	TogoVar
CARNS1_chr11_67410678_67430604	67427073	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	346	0.0029	-10	c.24 others(21): Show c.2473_*2482delTTTTTTTTTT		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding					1470		chr11	TogoVar
CARS1_chr11_2995929_3062423	3007734	TCTGTGGC others(3): Show TCTGTGGCTGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(105): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA19003.hp2 NA19054.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0010 a0011c0016 a0001c0001 a0001c0010 a0011c0016	a0001c0001t0001 a0001c0010t0001 a0011c0016t0001 a0001c0001t0001 a0001c0010t0001 a0011c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(94): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0010t0001g0061 a0011c0016t0001g0045	108	321	0.3365	-10	c.206 others(27): Show c.2069-785_2069-776delTCAGCCACAG		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	18/22						chr11	TogoVar
CARS2_chr13_110636417_110711116	110679589	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0239 a0001c0003t0001g0239	1	372	0.0027	-10	c.656 others(27): Show c.656-2496_656-2487delCTTTCTTTCT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110679593	AAGAAAGA others(3): Show AAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0340 a0003c0006t0002g0340	1	372	0.0027	-10	c.656 others(27): Show c.656-2500_656-2491delCTCTCTTTCT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110679597	AAGAGAGA others(3): Show AAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02055.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0297 a0001c0003t0002g0298 a0001c0003t0002g0297 a0001c0003t0002g0298	2	372	0.0054	-10	c.656 others(27): Show c.656-2504_656-2495delCTCTCTCTCT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110692119	CACATATA others(3): Show CACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01943.hp1 HG02055.hp1 others(10): Show HG01891.hp1 HG01943.hp1 HG02055.hp1 HG02258.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0007t0001 a0001c0007t0002	a0001c0002t0001g0264 a0001c0002t0001g0278 a0001c0002t0002g0270 others(10): Show a0001c0002t0001g0264 a0001c0002t0001g0278 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0275 a0001c0007t0001g0276 a0001c0007t0001g0277 a0001c0007t0002g0274	13	372	0.0350	-10	c.394 others(27): Show c.394-4111_394-4102delATATATATGT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	3/14						chr13	TogoVar
CARTPT_chr5_71714275_71726045	71715591	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00544.hp2 others(57): Show HG00140.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG01243.hp1 HG01261.hp1 HG01891.hp1 HG01943.hp1 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp1 HG03516.hp2 HG03669.hp2 HG04115.hp1 NA18612.hp1 NA18946.hp2 NA18952.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18974.hp2 NA18976.hp1 NA18983.hp1 NA18989.hp2 NA18994.hp1 NA19001.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19064.hp1 NA19074.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0003g0006 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0004 a0001c0001t0009g0014	60	474	0.1266	-10	c.-37 others(21): Show c.-3702_-3693delTTTTGTTTTG		CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding					3683		chr5	TogoVar
CARTPT_chr5_71714275_71726045	71721261	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	474	0.0021	-10	c.64 others(19): Show c.647_*656delTGTGTGTGTA		CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding					217		chr5	TogoVar
CARTPT_chr5_71714275_71726045	71725261	TTTTTTTT others(3): Show TTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	474	0.0021	-10	c.46 others(21): Show c.4647_*4656delTTTTTTTTTG		CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding					4217		chr5	TogoVar
CASC3_chr17_40135537_40177171	40140343	CACACACC others(3): Show CACACACCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02647.hp1 HG02132.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0224 a0001c0001t0001g0205 a0001c0001t0001g0224	2	266	0.0075	-10	c.-20 others(19): Show c.-205_-196delACACACCCCA		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					193		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140373	AACACACA others(3): Show AACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01981.hp1 others(7): Show HG00735.hp1 HG01256.hp2 HG01981.hp1 HG02015.hp2 HG02818.hp2 HG02895.hp1 HG03195.hp1 NA18971.hp2 NA18985.hp2 NA19076.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0002 a0006c0007 a0001c0001 a0004c0002 a0006c0007	a0001c0001t0001 a0004c0002t0001 a0006c0007t0001 a0001c0001t0001 a0004c0002t0001 a0006c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0075 a0001c0001t0001g0089 others(7): Show a0001c0001t0001g0026 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0213 a0004c0002t0001g0029 a0006c0007t0001g0220	10	266	0.0376	-10	c.-17 others(19): Show c.-175_-166delACACACACAC		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					163		chr17	TogoVar
CASC3_chr17_40135537_40177171	40169742	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	266	0.0038	-10	c.41 others(25): Show c.41+102_*41+111delTTTTTTTTTT		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CASKIN1_chr16_2172180_2201605	2183700	GATCTTCT others(3): Show GATCTTCTTCC	G G	frameshift_variant frameshift_variant	HIGH	NA18969.hp2 NA18969.hp2	a0036 a0036	a0036c0051 a0036c0051	a0036c0051t0001 a0036c0051t0001	a0036c0051t0001g0189 a0036c0051t0001g0189	1	350	0.0029	-10	c.156 others(19): Show c.1565_1574delGGAAGAAGAT	p.Arg others(5): Show p.Arg522fs	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	16/20	1747/5839	1565/4296	522/1431			chr16	TogoVar
CASKIN2_chr17_75495261_75520537	75496888	GGCTGGGG others(3): Show GGCTGGGGTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	414	0.0024	-10	c.41 others(21): Show c.4182_*4191delTAACCCCAGC		CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding					3372		chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75517111	GCCCTCCC others(3): Show GCCCTCCCTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0093 a0001c0002t0012g0093	1	414	0.0024	-10	c.-21 others(21): Show c.-2125_-2116delGCAGGGAGGG		CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding					1575		chr17	TogoVar
CASK_chrX_41509934_41928554	41510388	CATATATA others(3): Show CATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02897.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044	3	164	0.0183	-10	c.10 others(23): Show c.10022_*10031delATATATATAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding					4545		chrX	TogoVar
CASK_chrX_41509934_41928554	41534392	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02622.hp1 others(2): Show HG01167.hp1 HG01169.hp1 HG02622.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0001t0025 a0001c0001t0026 others(1): Show a0001c0001t0007 a0001c0001t0025 a0001c0001t0026 a0001c0006t0028	a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0025g0019 others(2): Show a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0025g0019 a0001c0001t0026g0008 a0001c0006t0028g0018	5	164	0.0305	-10	c.231 others(27): Show c.2317+304_2317+313delGTGTGTGTGT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	24/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(3): Show GATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02129.hp1 HG02602.hp1 others(6): Show HG01433.hp1 HG02129.hp1 HG02602.hp1 HG02922.hp1 HG03654.hp1 HG04199.hp1 NA18522.hp1 NA18962.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0105 a0001c0001t0001g0128 a0001c0001t0001g0138 others(6): Show a0001c0001t0001g0105 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0004g0133 a0001c0001t0008g0001 a0001c0002t0001g0145 a0001c0005t0001g0066	9	164	0.0549	-10	c.172 others(29): Show c.172+23409_172+23418delATATATATAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41854222	GCGCACAC others(3): Show GCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0025 a0001c0006t0028 a0001c0001t0025 a0001c0006t0028	a0001c0001t0025g0019 a0001c0006t0028g0018 a0001c0001t0025g0019 a0001c0006t0028g0018	2	164	0.0122	-10	c.60- others(24): Show c.60-1005_60-996delTGTGTGTGCG		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41921869	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0008 a0001c0001t0026g0008	1	164	0.0061	-10	c.59+ others(25): Show c.59+1051_59+1060delTTTTTTTTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26						chrX	TogoVar
CASP10_chr2_201178141_201226665	201194087	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02895.hp1 HG02630.hp1 HG02818.hp1 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0019 a0001c0005t0009g0045 a0001c0005t0009g0019 a0001c0005t0009g0045	3	322	0.0093	-10	c.577 others(26): Show c.577+994_577+1003delGTGTGTGTGT		CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP10_chr2_201178141_201226665	201199569	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0221	1	322	0.0031	-10	c.684 others(27): Show c.684+3635_684+3644delTTTTTTTTTT		CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP14_chr19_15044480_15063293	15049691	TCTCTCTC others(3): Show TCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02486.hp2 HG02132.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0004 a0001c0001t0007 a0001c0002t0004	a0001c0001t0007g0062 a0001c0002t0004g0063 a0001c0001t0007g0062 a0001c0002t0004g0063	2	428	0.0047	-10	c.-47 others(23): Show c.-47+48_-47+57delTCTCTCACAC		CASP14	ENSG00000105141.6	transcript	ENST00000427043.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CASP14_chr19_15044480_15063293	15049693	TCTCTCAC others(3): Show TCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	428	0.0023	-10	c.-47 others(23): Show c.-47+50_-47+59delTCTCACACAC		CASP14	ENSG00000105141.6	transcript	ENST00000427043.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CASP4_chr11_104937866_104973574	104958960	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp2 HG03139.hp2 others(1): Show HG02647.hp1 HG03130.hp2 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0039 a0001c0001t0001g0167 a0001c0001t0001g0168	4	358	0.0112	-10	c.8-3 others(23): Show c.8-3969_8-3960delTTTTTTTTTT		CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	1/8						chr11	TogoVar
CASP5_chr11_104989243_105028168	105005352	ATATATGT others(3): Show ATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG03453.hp2 HG01106.hp1 HG01175.hp2 HG03453.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0042 a0008c0008t0001g0228 a0008c0008t0001g0042 a0008c0008t0001g0228	3	396	0.0076	-10	c.433 others(27): Show c.433+1721_433+1730delCACACATATA		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	3/9						chr11	TogoVar
CASP5_chr11_104989243_105028168	105009718	CACATATA others(3): Show CACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00673.hp2 others(76): Show HG00323.hp2 HG00544.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02300.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02735.hp1 HG02738.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0009 a0012 a0015 a0017 a0022 a0024 a0030 a0031	a0001c0001 a0003c0003 a0004c0004 others(8): Show a0001c0001 a0003c0003 a0004c0004 a0009c0012 a0012c0019 a0015c0017 a0017c0035 a0022c0036 a0024c0026 a0030c0033 a0031c0032	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(8): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0009c0012t0001 a0012c0019t0001 a0015c0017t0001 a0017c0035t0001 a0022c0036t0001 a0024c0026t0001 a0030c0033t0001 a0031c0032t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0003c0003t0001g0001 others(57): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0003c0003t0001g0001 a0003c0003t0001g0005 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0084 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0097 a0003c0003t0001g0102 a0003c0003t0001g0109 a0003c0003t0001g0111 a0003c0003t0001g0114 a0003c0003t0001g0120 a0003c0003t0001g0123 a0003c0003t0001g0126 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0134 a0003c0003t0001g0137 a0003c0003t0001g0144 a0003c0003t0001g0148 a0004c0004t0001g0002 a0004c0004t0001g0019 a0004c0004t0001g0091 a0004c0004t0001g0096 a0004c0004t0001g0100 a0004c0004t0001g0107 a0004c0004t0001g0108 a0004c0004t0001g0110 a0004c0004t0001g0113 a0004c0004t0001g0115 a0004c0004t0001g0116 a0004c0004t0001g0119 a0004c0004t0001g0121 a0004c0004t0001g0122 a0004c0004t0001g0124 a0004c0004t0001g0125 a0004c0004t0001g0127 a0004c0004t0001g0132 a0004c0004t0001g0138 a0004c0004t0001g0146 a0009c0012t0001g0018 a0009c0012t0001g0095 a0012c0019t0001g0098 a0012c0019t0001g0099 a0015c0017t0001g0086 a0015c0017t0001g0128 a0017c0035t0001g0118 a0022c0036t0001g0141 a0024c0026t0001g0106 a0030c0033t0001g0117 a0031c0032t0001g0112	79	396	0.1995	-10	c.8-7 others(21): Show c.8-748_8-739delATATATATGT		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9						chr11	TogoVar
CASP5_chr11_104989243_105028168	105009720	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0028 a0028	a0028c0025 a0028c0025	a0028c0025t0001 a0028c0025t0001	a0028c0025t0001g0265 a0028c0025t0001g0265	1	396	0.0025	-10	c.8-7 others(21): Show c.8-750_8-741delATATATATAT		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9						chr11	TogoVar
CASP5_chr11_104989243_105028168	105013819	AAAAATAA others(3): Show AAAAATAATAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG03041.hp2 HG02809.hp1 HG02965.hp1 HG03041.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0043 a0006c0007t0001g0325 a0006c0007t0001g0043 a0006c0007t0001g0325	3	396	0.0076	-10	c.8-4 others(23): Show c.8-4849_8-4840delGTATTATTTT		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9						chr11	TogoVar
CASP6_chr4_109683628_109708445	109684109	CTGGAGTG others(3): Show CTGGAGTGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02647.hp1 others(4): Show HG02280.hp1 HG02559.hp2 HG02647.hp1 HG03041.hp2 HG06807.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0007 a0001c0001t0001g0060	7	416	0.0168	-10	c.52 others(21): Show c.5211_*5220delCTGCACTCCA		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					4518		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705974	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0193	1	416	0.0024	-10	c.-25 others(21): Show c.-2589_-2580delTTTTTTTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2530		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705993	AAAAAAAA others(3): Show AAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA18522.hp2 others(4): Show HG02895.hp2 HG02897.hp1 NA18522.hp2 NA18906.hp2 NA18962.hp2 NA18986.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0013 a0002c0003t0003 others(1): Show a0001c0001t0004 a0001c0001t0013 a0002c0003t0003 a0002c0003t0010	a0001c0001t0004g0149 a0001c0001t0013g0150 a0002c0003t0003g0010 others(1): Show a0001c0001t0004g0149 a0001c0001t0013g0150 a0002c0003t0003g0010 a0002c0003t0010g0059	7	416	0.0168	-10	c.-26 others(21): Show c.-2608_-2599delATTTTTTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2549		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705995	AAAAAAAA others(3): Show AAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	416	0.0024	-10	c.-26 others(21): Show c.-2610_-2601delATATTTTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2551		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705997	AAAAAATA others(3): Show AAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02040.hp2 NA18975.hp2 HG00438.hp2 HG02040.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0025 a0001c0001t0004g0146 a0001c0001t0004g0198 a0001c0001t0002g0025 a0001c0001t0004g0146 a0001c0001t0004g0198	3	416	0.0072	-10	c.-26 others(21): Show c.-2612_-2603delATATATTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2553		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706129	TTTTATAT others(3): Show TTTTATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02622.hp1 HG03540.hp2 others(2): Show HG00735.hp1 HG02622.hp1 HG03540.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0101 a0001c0002t0001g0072 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0101 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0139	5	416	0.0120	-10	c.-27 others(21): Show c.-2744_-2735delTATATATAAA		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2685		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706164	TATATATA others(3): Show TATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	416	0.0024	-10	c.-27 others(21): Show c.-2779_-2770delGTGTATATAT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2720		chr4	TogoVar
CASP7_chr10_113674912_113735905	113679022	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(167): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0008 others(4): Show a0001c0001 a0001c0005 a0001c0008 a0001c0011 a0001c0012 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0005t0002 a0001c0008t0002 a0001c0011t0017 a0001c0012t0002 a0002c0002t0001 a0002c0002t0012 a0002c0002t0013 a0002c0006t0001	a0001c0001t0002g0012 a0001c0001t0002g0103 a0001c0001t0002g0106 others(158): Show a0001c0001t0002g0012 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0269 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0335 a0001c0001t0002g0362 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0003g0324 a0001c0001t0003g0346 a0001c0001t0003g0348 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0102 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0338 a0001c0001t0004g0347 a0001c0001t0004g0374 a0001c0001t0005g0150 a0001c0001t0005g0266 a0001c0001t0005g0315 a0001c0001t0005g0339 a0001c0001t0009g0378 a0001c0001t0009g0387 a0001c0005t0002g0264 a0001c0008t0002g0253 a0001c0011t0017g0386 a0001c0012t0002g0107 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0248 a0002c0002t0001g0254 a0002c0002t0001g0265 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0310 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0369 a0002c0002t0001g0370 a0002c0002t0001g0371 a0002c0002t0001g0372 a0002c0002t0001g0373 a0002c0002t0001g0375 a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0012g0358 a0002c0002t0013g0276 a0002c0006t0001g0104 a0002c0006t0001g0105	170	406	0.4187	-10	c.-95 others(19): Show c.-956_-947delGTGTGTGTGT		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding					889		chr10	TogoVar
CASP7_chr10_113674912_113735905	113684239	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	406	0.0025	-10	c.-1+ others(25): Show c.-1+4276_-1+4285delTTTTTTTTTT		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP8_chr2_201255536_201292709	201268909	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02451.hp2 others(2): Show HG01070.hp2 HG01071.hp1 HG02451.hp2 HG03453.hp2 NA18957.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0006c0009t0002	a0001c0001t0001g0061 a0001c0001t0008g0031 a0001c0002t0002g0110 others(1): Show a0001c0001t0001g0061 a0001c0001t0008g0031 a0001c0002t0002g0110 a0006c0009t0002g0109	5	386	0.0130	-10	c.305 others(27): Show c.305+2157_305+2166delTGTGTGTGTG		CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CASQ1_chr1_160185575_160206886	160203667	ATGGATCA others(3): Show ATGGATCAGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	440	0.0023	-10	c.22 others(21): Show c.2292_*2301delTGGATCAGGT		CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding					1782		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115773214	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG02155.hp1 others(4): Show HG01952.hp1 HG02055.hp1 HG02155.hp1 HG02273.hp1 HG02615.hp2 HG03225.hp2 HG03831.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0008	a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0002c0003t0001 a0004c0008t0001	a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0008g0021 others(4): Show a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0008g0021 a0001c0002t0001g0077 a0002c0003t0001g0354 a0004c0008t0001g0273 a0004c0008t0001g0314	7	364	0.0192	-10	c.-46 others(21): Show c.-4683_-4674delCACACACACA		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding					4501		chr1	TogoVar
CASR_chr3_122178668_122296629	122236409	TATTTCCT others(3): Show TATTTCCTGAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0176 a0001c0001t0033g0176	1	314	0.0032	-10	c.-24 others(31): Show c.-242-17527_-242-17518delTTTCCTGACA		CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122272091	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp2 others(66): Show HG00099.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01074.hp2 HG01081.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02155.hp1 HG02523.hp2 HG02738.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0009	a0001c0001 a0002c0002 a0002c0008 others(5): Show a0001c0001 a0002c0002 a0002c0008 a0002c0011 a0002c0012 a0006c0009 a0007c0014 a0009c0015	a0001c0001t0002 a0002c0002t0002 a0002c0002t0012 others(15): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0008t0002 a0002c0008t0012 a0002c0011t0002 a0002c0012t0002 a0006c0009t0002 a0006c0009t0030 a0007c0014t0021 a0009c0015t0002	a0001c0001t0002g0112 a0002c0002t0002g0001 a0002c0002t0002g0054 others(64): Show a0001c0001t0002g0112 a0002c0002t0002g0001 a0002c0002t0002g0054 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0083 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0113 a0002c0002t0002g0141 a0002c0002t0002g0152 a0002c0002t0002g0157 a0002c0002t0002g0168 a0002c0002t0002g0174 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0226 a0002c0002t0002g0229 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0255 a0002c0002t0002g0262 a0002c0002t0002g0266 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0283 a0002c0002t0002g0300 a0002c0002t0012g0067 a0002c0002t0012g0208 a0002c0002t0012g0210 a0002c0002t0012g0212 a0002c0002t0012g0224 a0002c0002t0012g0225 a0002c0002t0016g0086 a0002c0002t0016g0213 a0002c0002t0017g0216 a0002c0002t0017g0271 a0002c0002t0025g0129 a0002c0002t0026g0246 a0002c0002t0027g0230 a0002c0002t0028g0250 a0002c0002t0029g0261 a0002c0008t0002g0267 a0002c0008t0002g0268 a0002c0008t0012g0050 a0002c0011t0002g0281 a0002c0012t0002g0075 a0006c0009t0002g0273 a0006c0009t0030g0274 a0007c0014t0021g0205 a0009c0015t0002g0217	69	314	0.2198	-10	c.137 others(29): Show c.1378-3695_1378-3686delACACACACAC		CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar

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