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
ASMT_chrX_1610059_1648081	1613176	C C	CTTCTTTC others(5): Show CTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0154 a0001c0003t0002g0154	1	91	0.0110	12	c.-20 others(23): Show c.-2024_-2023insTTCTTTCTTTCT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1882		chrX	TogoVar
ASMT_chrX_1610059_1648081	1619549	T T	TATAATAA others(5): Show TATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	83	0.0120	12	c.70- others(27): Show c.70-3561_70-3550dupTAATAATAATAA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1644219	T T	TTTATTAT others(5): Show TTTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	37	0.0270	12	c.12 others(23): Show c.1205_*1206insTTATTATTATTA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1139		chrX	TogoVar
ASNS_chr7_97846677_97877408	97868519	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02622.hp1 HG03453.hp1 others(2): Show HG02165.hp2 HG02622.hp1 HG03453.hp1 HG06807.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0107 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0107 a0001c0001t0001g0186 a0001c0006t0001g0187	5	244	0.0205	12	c.249 others(27): Show c.249+377_249+388dupCACACACACACA	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/12			chr7	TogoVar
ASPA_chr17_3470997_3508405	3500511	T T	TTTTTGTT others(5): Show TTTTTGTTTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0002 a0001c0001t0032g0002	1	74	0.0135	12	c.14 others(23): Show c.1427_*1428insGTTTTTTGTTTT	ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding	6/6	1428	INFO_REALIGN_3_PRIME	chr17	TogoVar
ASPDH_chr19_50506603_50518913	50510051	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00735.hp2 others(14): Show HG00621.hp1 HG00639.hp1 HG00735.hp2 HG01346.hp2 HG02080.hp2 HG02451.hp2 HG02602.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 NA18522.hp1 NA18747.hp1 NA18950.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0006 a0001c0001t0001g0007	17	99	0.1717	12	c.16 others(23): Show c.1667_*1678dupTTTTTTTTTTTT	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding		1551		chr19	TogoVar
ASPDH_chr19_50506603_50518913	50516666	T T	TGTTATAA others(5): Show TGTTATAAGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG01891.hp1 HG02886.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0013 a0004c0004t0001g0013	2	370	0.0054	12	c.-28 others(23): Show c.-2844_-2843insGAGACTTATAAC	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding		2754		chr19	TogoVar
ASPHD2_chr22_26424260_26450015	26438518	T T	TATATACA others(5): Show TATATACACATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18906.hp1 HG01496.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0140 a0001c0001t0003g0065 a0001c0001t0003g0140	2	426	0.0047	12	c.887 others(29): Show c.887-3936_887-3935insCACATACATATA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26438552	C C	CACATACA others(5): Show CACATACATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02630.hp1 HG01256.hp1 HG01258.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0032 a0001c0001t0021 a0001c0001t0032	a0001c0001t0021g0072 a0001c0001t0021g0144 a0001c0001t0032g0073 a0001c0001t0021g0072 a0001c0001t0021g0144 a0001c0001t0032g0073	3	245	0.0122	12	c.887 others(29): Show c.887-3903_887-3892dupTACATATATACA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp1 NA18949.hp2 HG02965.hp1 HG03540.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0001 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0154 a0001c0001t0004g0238 a0001c0001t0019g0003 a0001c0001t0001g0154 a0001c0001t0004g0238 a0001c0001t0019g0003	3	6	0.5000	12	c.176 others(31): Show c.1764+8360_1764+8371dupACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61550442	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0043 a0001c0011t0001g0043	1	22	0.0455	12	c.162 others(31): Show c.1627-2246_1627-2235dupGTGTGTGTGTGT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	20/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61561128	G G	GAGGAAGG others(5): Show GAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0214 a0001c0001t0008g0214	1	177	0.0056	12	c.143 others(31): Show c.1437+1615_1437+1616insTCCTTCCTTCCT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61561132	G G	GAGGAAGG others(5): Show GAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02809.hp1 NA18906.hp2 others(4): Show HG01496.hp1 HG02809.hp1 NA18906.hp2 NA18965.hp2 NA19004.hp2 NA19012.hp1 NA19068.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0006c0013t0001	a0001c0001t0005g0017 a0001c0001t0006g0100 a0001c0001t0006g0118 others(4): Show a0001c0001t0005g0017 a0001c0001t0006g0100 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0008g0235 a0001c0001t0008g0242 a0006c0013t0001g0152	7	61	0.1148	12	c.143 others(31): Show c.1437+1611_1437+1612insTCCTTCCTTCCT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61562389	C C	CTCTGTGT others(5): Show CTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00735.hp1 others(53): Show HG00423.hp1 HG00558.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01256.hp1 HG01261.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02683.hp2 HG02717.hp1 HG03239.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18966.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA19001.hp2 NA19054.hp1 NA19074.hp1 NA19082.hp2 NA19087.hp1 NA20805.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0015 others(1): Show a0001c0001 a0001c0005 a0001c0015 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0029 a0001c0005t0001 a0001c0015t0004 a0005c0014t0004	a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0057 others(53): Show a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0002g0015 a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0004g0227 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0007g0185 a0001c0001t0013g0105 a0001c0001t0013g0163 a0001c0001t0013g0164 a0001c0001t0016g0024 a0001c0001t0016g0098 a0001c0001t0029g0195 a0001c0005t0001g0117 a0001c0005t0001g0157 a0001c0015t0004g0248 a0005c0014t0004g0239	56	137	0.4088	12	c.143 others(29): Show c.1437+354_1437+355insCACACACACAGA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61590550	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03540.hp2 HG02723.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0184 a0001c0001t0007g0185	2	67	0.0299	12	c.977 others(29): Show c.977-6533_977-6522dupCACACACACACA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	14/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGAG others(5): Show AGAGAGAGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp2 others(3): Show HG00741.hp2 HG01070.hp1 HG01071.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002	a0001c0001t0004g0252 a0001c0001t0010g0183 a0001c0001t0011g0250 others(2): Show a0001c0001t0004g0252 a0001c0001t0010g0183 a0001c0001t0011g0250 a0001c0001t0011g0251 a0001c0002t0002g0001	6	79	0.0759	12	c.-49 others(23): Show c.-4924_-4923insACACACTCTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGTG others(5): Show AGAGAGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02896.hp2 HG03098.hp2 others(2): Show HG02165.hp1 HG02896.hp2 HG03098.hp2 NA18977.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0005g0020 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0005g0020 a0001c0001t0006g0100 a0001c0002t0002g0136	5	78	0.0641	12	c.-49 others(23): Show c.-4924_-4923insACACACACTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGTGTG others(5): Show AGAGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19087.hp2 NA19068.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0021 a0001c0002t0002g0022	2	75	0.0267	12	c.-49 others(23): Show c.-4924_-4923insACACACACACTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPM_chr1_197079127_197151669	197114029	T T	TAGTGTCT others(5): Show TAGTGTCTACTAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(25): Show a0001 a0002 a0004 a0007 a0008 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0029 a0030 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0003 a0001c0008 others(33): Show a0001c0001 a0001c0003 a0001c0008 a0001c0022 a0001c0026 a0001c0028 a0001c0034 a0001c0045 a0002c0002 a0002c0040 a0004c0005 a0007c0015 a0008c0016 a0011c0013 a0012c0014 a0013c0018 a0014c0023 a0015c0017 a0016c0025 a0017c0024 a0018c0021 a0019c0019 a0020c0020 a0021c0048 a0022c0027 a0023c0037 a0024c0041 a0025c0044 a0026c0043 a0029c0049 a0030c0046 a0031c0038 a0032c0047 a0033c0035 a0034c0042 a0035c0036	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(36): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0008 a0001c0008t0001 a0001c0022t0001 a0001c0026t0001 a0001c0028t0001 a0001c0034t0001 a0001c0045t0001 a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 a0004c0005t0003 a0007c0015t0001 a0008c0016t0001 a0011c0013t0004 a0012c0014t0001 a0013c0018t0001 a0014c0023t0001 a0015c0017t0001 a0016c0025t0004 a0017c0024t0004 a0018c0021t0001 a0019c0019t0001 a0020c0020t0001 a0021c0048t0001 a0022c0027t0001 a0023c0037t0001 a0024c0041t0001 a0025c0044t0001 a0026c0043t0001 a0029c0049t0001 a0030c0046t0001 a0031c0038t0001 a0032c0047t0001 a0033c0035t0001 a0034c0042t0001 a0035c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(160): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0210 a0001c0001t0009g0211 a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0184 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0190 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0209 a0001c0003t0008g0189 a0001c0008t0001g0094 a0001c0008t0001g0096 a0001c0008t0001g0097 a0001c0008t0001g0128 a0001c0022t0001g0034 a0001c0026t0001g0044 a0001c0028t0001g0051 a0001c0034t0001g0174 a0001c0045t0001g0202 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0007g0154 a0002c0002t0007g0166 a0002c0040t0001g0148 a0004c0005t0003g0017 a0004c0005t0003g0039 a0004c0005t0003g0040 a0004c0005t0003g0041 a0004c0005t0003g0042 a0004c0005t0003g0043 a0007c0015t0001g0093 a0007c0015t0001g0100 a0007c0015t0001g0110 a0008c0016t0001g0011 a0011c0013t0004g0046 a0011c0013t0004g0047 a0011c0013t0004g0048 a0012c0014t0001g0027 a0012c0014t0001g0118 a0013c0018t0001g0035 a0014c0023t0001g0032 a0015c0017t0001g0183 a0015c0017t0001g0185 a0016c0025t0004g0024 a0017c0024t0004g0088 a0017c0024t0004g0089 a0018c0021t0001g0029 a0019c0019t0001g0033 a0020c0020t0001g0101 a0020c0020t0001g0102 a0021c0048t0001g0133 a0022c0027t0001g0137 a0023c0037t0001g0192 a0024c0041t0001g0140 a0025c0044t0001g0163 a0026c0043t0001g0095 a0029c0049t0001g0208 a0030c0046t0001g0129 a0031c0038t0001g0106 a0032c0047t0001g0132 a0033c0035t0001g0203 a0034c0042t0001g0141 a0035c0036t0001g0191	236	294	0.8027	12	c.406 others(31): Show c.4065+3759_4065+3760insTTAGTAGACACT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	17/27			chr1	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01106.hp2 HG01496.hp1 others(20): Show HG00738.hp1 HG01106.hp2 HG01496.hp1 HG01934.hp2 HG02165.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03942.hp2 HG06807.hp2 NA18940.hp1 NA18944.hp2 NA18955.hp2 NA18966.hp2 NA18969.hp2 NA19003.hp2 NA19011.hp1 NA19068.hp2	a0002 a0003 a0010 others(3): Show a0002 a0003 a0010 a0024 a0025 a0034	a0002c0002 a0003c0007 a0010c0009 others(3): Show a0002c0002 a0003c0007 a0010c0009 a0024c0041 a0025c0044 a0034c0042	a0002c0002t0001 a0003c0007t0002 a0010c0009t0006 others(3): Show a0002c0002t0001 a0003c0007t0002 a0010c0009t0006 a0024c0041t0001 a0025c0044t0001 a0034c0042t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 others(16): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0013 a0002c0002t0001g0030 a0002c0002t0001g0136 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0157 a0002c0002t0001g0162 a0003c0007t0002g0067 a0003c0007t0002g0069 a0010c0009t0006g0016 a0024c0041t0001g0140 a0025c0044t0001g0163 a0034c0042t0001g0141	23	50	0.4600	12	c.-18 others(23): Show c.-1897_-1896insTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(5): Show GGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	2	289	0.0069	12	c.42 others(23): Show c.4205_*4206insTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASRGL1_chr11_62332448_62398412	62362813	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(73): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02015.hp2 HG02040.hp2 HG02109.hp1 HG02129.hp1 HG02683.hp1 HG02698.hp1 HG03017.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18983.hp2 NA18988.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0009 a0001c0001 a0001c0007 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0031 a0001c0007t0003 a0003c0009t0015	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0019 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0363 a0001c0001t0003g0004 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0152 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0004g0030 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0011g0004 a0001c0001t0011g0139 a0001c0001t0011g0145 a0001c0001t0011g0151 a0001c0001t0013g0062 a0001c0001t0018g0076 a0001c0001t0031g0021 a0001c0007t0003g0135 a0003c0009t0015g0155	76	101	0.7525	12	c.491 others(29): Show c.491+5689_491+5700dupCACACACACACA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362834	A A	ACACACAC others(5): Show ACACACACACACT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18747.hp1 NA19068.hp2 others(1): Show HG02083.hp1 NA18747.hp1 NA19068.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0130	4	368	0.0109	12	c.491 others(29): Show c.491+5700_491+5701insCTCACACACACA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG03195.hp2 others(5): Show HG00438.hp1 HG00673.hp2 HG03195.hp2 NA18942.hp2 NA18951.hp2 NA19002.hp2 NA19004.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014	a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0210 others(5): Show a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0010g0343 a0001c0001t0014g0005	8	84	0.0952	12	c.492 others(31): Show c.492-13663_492-13652dupATATATATATAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62383602	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG01256.hp2 others(18): Show HG00423.hp1 HG00639.hp1 HG01256.hp2 HG02015.hp1 HG02083.hp2 HG03710.hp2 HG03942.hp2 NA18612.hp1 NA18939.hp1 NA18955.hp1 NA18962.hp1 NA18969.hp1 NA18989.hp1 NA19007.hp1 NA19011.hp2 NA19060.hp2 NA19072.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0003 a0001c0001t0016 a0001c0001t0029 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0029 a0001c0002t0003 a0001c0007t0003	a0001c0001t0003g0012 a0001c0001t0003g0143 a0001c0001t0003g0152 others(18): Show a0001c0001t0003g0012 a0001c0001t0003g0143 a0001c0001t0003g0152 a0001c0001t0003g0157 a0001c0001t0003g0162 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0016g0305 a0001c0001t0029g0109 a0001c0002t0003g0007 a0001c0002t0003g0288 a0001c0002t0003g0290 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0300 a0001c0002t0003g0304 a0001c0002t0003g0307 a0001c0007t0003g0135	21	110	0.1909	12	c.492 others(29): Show c.492-5516_492-5505dupAAAAAAAAAAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130448422	G G	GCGCACAC others(5): Show GCGCACACACACA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02293.hp1 HG02293.hp2 others(5): Show HG01358.hp2 HG02293.hp1 HG02293.hp2 HG02922.hp1 NA18906.hp1 NA19065.hp2 NA19068.hp1 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0008c0010	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0008c0010t0001	a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0272 others(5): Show a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0003t0001g0292 a0001c0003t0001g0343 a0002c0004t0001g0351 a0008c0010t0001g0003	8	82	0.0976	12	c.-6+ others(27): Show c.-6+3428_-6+3429insGCACACACACAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130454848	C C	CCATTCAT others(5): Show CCATTCATCCATT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0311	1	372	0.0027	12	c.174 others(27): Show c.174+479_174+490dupTCATCCATTCAT	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495470	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	232	0.0043	12	c.112 others(29): Show c.1127+448_1127+449insCACACACACACA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495472	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03492.hp2 NA18960.hp1 others(2): Show HG02735.hp2 HG03492.hp2 NA18960.hp1 NA18971.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0249 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0260	5	91	0.0549	12	c.112 others(29): Show c.1127+467_1127+478dupCACACACACACA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176922556	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG04204.hp1 NA18952.hp2 others(1): Show HG02922.hp1 HG04204.hp1 NA18952.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0002t0002 a0001c0002t0020 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0020 a0001c0006t0010	a0001c0001t0002g0022 a0001c0002t0002g0020 a0001c0002t0020g0007 others(1): Show a0001c0001t0002g0022 a0001c0002t0002g0020 a0001c0002t0020g0007 a0001c0006t0010g0027	4	28	0.1429	12	c.267 others(33): Show c.2671+11584_2671+11595dupTTTTTTTTTTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942820	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	83	0.0120	12	c.237 others(31): Show c.2377+1059_2377+1070dupTATATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942820	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	83	0.0120	12	c.237 others(31): Show c.2377+1070_2377+1071insTATATATATACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942866	A A	ATATATAT others(5): Show ATATATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01978.hp1 others(4): Show HG00140.hp2 HG01123.hp2 HG01978.hp1 HG02074.hp2 HG02257.hp1 HG02630.hp1 NA19062.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0010	a0001c0001t0001 a0001c0002t0007 a0001c0003t0012 others(1): Show a0001c0001t0001 a0001c0002t0007 a0001c0003t0012 a0003c0010t0006	a0001c0001t0001g0021 a0001c0001t0001g0049 a0001c0001t0001g0055 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0002t0007g0069 a0001c0003t0012g0086 a0003c0010t0006g0031 a0003c0010t0006g0038	7	13	0.5385	12	c.237 others(31): Show c.2377+1024_2377+1025insAATATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176994025	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00642.hp1 others(52): Show HG00140.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18981.hp2 NA19062.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0005 others(7): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0012 a0002c0004 a0002c0007 a0002c0011 a0002c0014 a0004c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 others(21): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0015 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0005t0004 a0001c0005t0005 a0001c0006t0001 a0001c0006t0002 a0001c0006t0010 a0001c0006t0011 a0001c0012t0004 a0001c0012t0005 a0002c0004t0003 a0002c0007t0001 a0002c0007t0016 a0002c0011t0009 a0002c0014t0009 a0004c0013t0001	a0001c0002t0001g0029 a0001c0002t0002g0013 a0001c0002t0002g0020 others(52): Show a0001c0002t0001g0029 a0001c0002t0002g0013 a0001c0002t0002g0020 a0001c0002t0002g0032 a0001c0002t0002g0054 a0001c0002t0002g0070 a0001c0002t0002g0083 a0001c0002t0011g0009 a0001c0002t0015g0039 a0001c0002t0020g0007 a0001c0003t0001g0002 a0001c0003t0001g0109 a0001c0003t0002g0036 a0001c0003t0002g0067 a0001c0003t0002g0073 a0001c0003t0002g0079 a0001c0003t0002g0081 a0001c0003t0002g0100 a0001c0003t0008g0088 a0001c0003t0008g0105 a0001c0003t0012g0086 a0001c0003t0013g0095 a0001c0005t0004g0072 a0001c0005t0004g0076 a0001c0005t0004g0077 a0001c0005t0004g0084 a0001c0005t0005g0057 a0001c0005t0005g0102 a0001c0006t0001g0062 a0001c0006t0002g0037 a0001c0006t0010g0027 a0001c0006t0011g0111 a0001c0012t0004g0010 a0001c0012t0005g0045 a0002c0004t0003g0042 a0002c0004t0003g0056 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0064 a0002c0004t0003g0087 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0091 a0002c0004t0003g0092 a0002c0004t0003g0096 a0002c0004t0003g0103 a0002c0007t0001g0011 a0002c0007t0001g0051 a0002c0007t0001g0071 a0002c0007t0001g0104 a0002c0007t0016g0066 a0002c0011t0009g0003 a0002c0011t0009g0040 a0002c0014t0009g0078 a0004c0013t0001g0001	55	105	0.5238	12	c.152 others(33): Show c.1523+20765_1523+20766insTACACACACACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177033123	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG02809.hp2 others(2): Show HG00408.hp2 HG00642.hp2 HG02809.hp2 HG04115.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0005t0005 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0005t0005 a0001c0006t0002 a0002c0004t0003	a0001c0001t0001g0093 a0001c0005t0005g0102 a0001c0006t0002g0037 others(2): Show a0001c0001t0001g0093 a0001c0005t0005g0102 a0001c0006t0002g0037 a0001c0006t0002g0044 a0002c0004t0003g0096	5	30	0.1667	12	c.472 others(27): Show c.472-286_472-275dupCACACACACACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	2/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177115655	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	28	0.0357	12	c.283 others(31): Show c.283+48727_283+48738dupATTTATTTATTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116439194	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 NA19012.hp1 HG00099.hp2 HG01081.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0059 a0001c0002t0004g0043 a0001c0002t0004g0061 a0001c0001t0004g0059 a0001c0002t0004g0043 a0001c0002t0004g0061	3	43	0.0698	12	c.378 others(31): Show c.3782+1403_3782+1414dupAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	22/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116446264	G G	GAGAGAGA others(5): Show GAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02572.hp2 HG02886.hp1 HG01169.hp2 HG02572.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 a0001c0002 a0001c0003 a0001c0011	a0001c0002t0004 a0001c0003t0004 a0001c0011t0004 a0001c0002t0004 a0001c0003t0004 a0001c0011t0004	a0001c0002t0004g0092 a0001c0003t0004g0085 a0001c0011t0004g0097 a0001c0002t0004g0092 a0001c0003t0004g0085 a0001c0011t0004g0097	3	100	0.0300	12	c.349 others(31): Show c.3498-3712_3498-3711insATCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116446272	T T	TAGAGAGA others(5): Show TAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA19011.hp2 NA19065.hp1 HG01515.hp1 NA19011.hp2 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0057 a0001c0002t0002g0058 a0001c0002t0003g0022 a0001c0002t0001g0057 a0001c0002t0002g0058 a0001c0002t0003g0022	3	9	0.3333	12	c.349 others(31): Show c.3498-3731_3498-3720dupCTCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116462787	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0088 a0001c0009t0008g0088	1	93	0.0108	12	c.349 others(33): Show c.3498-20235_3498-20234insACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116502682	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0021 a0001c0002t0003g0021	1	80	0.0125	12	c.335 others(33): Show c.3356-15194_3356-15183dupCTTCCTTCCTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116552008	T T	TACATATA others(5): Show TACATATACATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01109.hp1 others(15): Show HG00639.hp1 HG00735.hp1 HG01109.hp1 HG01169.hp1 HG01884.hp2 HG02109.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03209.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0014 a0001c0025	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0001 a0001c0011t0004 a0001c0014t0017 a0001c0025t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0095 others(15): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0093 a0001c0003t0001g0054 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0011t0004g0097 a0001c0014t0017g0049 a0001c0025t0001g0080	18	100	0.1800	12	c.335 others(33): Show c.3356-64509_3356-64508insGTATGTATATGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116557223	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0071 a0001c0003t0007g0071	1	31	0.0323	12	c.335 others(33): Show c.3355+61089_3355+61100dupTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565255	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0071 a0001c0003t0007g0071	1	96	0.0104	12	c.335 others(33): Show c.3355+53068_3355+53069insATGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565351	T T	TTCTCTCT others(5): Show TTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	78	0.0128	12	c.335 others(33): Show c.3355+52961_3355+52972dupGAGAGAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565387	C C	CTCTCTCT others(5): Show CTCTCTCTCTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0086 a0001c0001t0009g0086	1	62	0.0161	12	c.335 others(33): Show c.3355+52936_3355+52937insTGGAGAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116573020	C C	CACACACA others(5): Show CACACACACACAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01109.hp1 others(12): Show HG00639.hp1 HG00735.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp2 HG02109.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03130.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0001 a0001c0008t0005 a0001c0011t0004	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 others(12): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0002t0001g0033 a0001c0002t0001g0093 a0001c0003t0001g0054 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0011t0004g0097	15	94	0.1596	12	c.335 others(33): Show c.3355+45303_3355+45304insTTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116578619	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0003 a0007c0015t0003	a0007c0015t0003g0019 a0007c0015t0003g0019	1	18	0.0556	12	c.335 others(33): Show c.3355+39693_3355+39704dupACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586833	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19065.hp1 NA19066.hp2 HG03471.hp1 NA19065.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0015 a0001c0002t0003 a0001c0009t0004 a0001c0001t0015 a0001c0002t0003 a0001c0009t0004	a0001c0001t0015g0045 a0001c0002t0003g0022 a0001c0009t0004g0032 a0001c0001t0015g0045 a0001c0002t0003g0022 a0001c0009t0004g0032	3	80	0.0375	12	c.335 others(33): Show c.3355+31490_3355+31491insATGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586835	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	94	0.0106	12	c.335 others(33): Show c.3355+31488_3355+31489insATGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar

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