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
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(11): Show AATAAATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	23	0.0435	18	c.600 others(37): Show c.6008+4157_6008+4158insATATATATATTTATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(11): Show AATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01981.hp1 HG03516.hp1 HG01975.hp1 HG01981.hp1 HG03516.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0009c0013t0002 a0001c0001t0001 a0009c0013t0002	a0001c0001t0001g0031 a0001c0001t0001g0034 a0009c0013t0002g0179 a0001c0001t0001g0031 a0001c0001t0001g0034 a0009c0013t0002g0179	3	25	0.1200	18	c.600 others(37): Show c.6008+4157_6008+4158insATATATATATATATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01516.hp2 others(16): Show HG01069.hp1 HG01069.hp2 HG01516.hp2 HG01975.hp1 HG01993.hp2 HG02083.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG03453.hp2 HG03516.hp2 HG03927.hp2 NA18975.hp2 NA18984.hp2 NA19075.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0056 a0001c0001t0001g0059 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0297 a0001c0002t0001g0261 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0003t0001g0137 a0002c0005t0001g0205	19	21	0.9048	18	c.34 others(29): Show c.3420_*3421insTGTGTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIC1_chr12_50052596_50088611	50086479	T T	TTGGTGGT others(11): Show TTGGTGGTGGTGGTGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00642.hp1 others(48): Show HG00140.hp1 HG00544.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG03130.hp2 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 NA18747.hp2 NA18952.hp2 NA18955.hp1 NA18963.hp2 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18998.hp2 NA19000.hp1 NA19010.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0003t0007	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0003g0008 a0001c0001t0003g0059 a0001c0001t0003g0119 a0001c0001t0005g0005 a0001c0002t0001g0154 a0001c0003t0007g0065 a0001c0003t0007g0066	51	162	0.3148	18	c.48 others(29): Show c.4830_*4831insTGGTGGTGGTGGTGGTGG	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding		2869		chr12	TogoVar
ASIC2_chr17_33008087_33298295	33134816	C C	CCCAATAG others(11): Show CCCAATAGAAGGACAGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG03492.hp2 others(1): Show HG02109.hp1 HG02145.hp1 HG03492.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0005 a0001c0002t0032 others(1): Show a0001c0001t0003 a0001c0002t0005 a0001c0002t0032 a0001c0004t0001	a0001c0001t0003g0035 a0001c0002t0005g0096 a0001c0002t0032g0223 others(1): Show a0001c0001t0003g0035 a0001c0002t0005g0096 a0001c0002t0032g0223 a0001c0004t0001g0153	4	238	0.0168	18	c.709 others(37): Show c.709-22750_709-22749insTCTCTGTCCTTCTATTGG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03239.hp1 HG04199.hp2 HG02735.hp1 HG03239.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0107	3	150	0.0200	18	c.-10 others(35): Show c.-10-1674_-10-1673insTATATATATATATATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258685	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	293	0.0034	18	c.-10 others(35): Show c.-10-1674_-10-1673insTATATATATATGTATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1431251	A A	AAATTATA others(11): Show AAATTATATATATAATTAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0001 a0005c0024t0001	a0005c0024t0001g0178 a0005c0024t0001g0178	1	183	0.0055	18	c.509 others(35): Show c.509+1017_509+1018insATAATTATATATATAATT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12			chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665612	A A	ATATACAT others(11): Show ATATACATATATATATATG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0094 a0003c0004t0001g0094	1	326	0.0031	18	c.-93 others(33): Show c.-93+165_-93+166insCATATATATATATGTATA	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASNS_chr7_97846677_97877408	97868519	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	240	0.0042	18	c.249 others(33): Show c.249+371_249+388dupCACACACACACACACACA	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/12			chr7	TogoVar
ASPG_chr14_104080700_104120582	104081784	C C	CCACTGGG others(11): Show CCACTGGGGAGGAGTGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	366	0.0027	18	c.-39 others(29): Show c.-3987_-3986insCACTGGGGAGGAGTGTAG	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		3915		chr14	TogoVar
ASPH_chr8_61495556_61719592	61539697	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	252	0.0040	18	c.176 others(37): Show c.1764+8373_1764+8374insACACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03239.hp2 HG02897.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0062 a0001c0001t0011g0251 a0001c0001t0001g0062 a0001c0001t0011g0251	2	5	0.4000	18	c.176 others(37): Show c.1764+8371_1764+8372insACACACACACACACACCC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG01106.hp1 others(10): Show HG00558.hp1 HG01081.hp2 HG01106.hp1 HG01256.hp1 HG01934.hp2 HG01952.hp1 NA18942.hp1 NA18942.hp2 NA18956.hp2 NA18966.hp2 NA19067.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0001c0011t0001	a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0116 others(10): Show a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0002g0168 a0001c0001t0004g0201 a0001c0001t0004g0228 a0001c0001t0004g0243 a0001c0001t0004g0249 a0001c0001t0027g0045 a0001c0011t0001g0043	13	16	0.8125	18	c.176 others(37): Show c.1764+8354_1764+8371dupACACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61550442	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01346.hp1 HG01261.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0027 a0001c0001t0008g0244 a0001c0001t0006g0027 a0001c0001t0008g0244	2	23	0.0870	18	c.162 others(37): Show c.1627-2252_1627-2235dupGTGTGTGTGTGTGTGTGT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	20/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61590550	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG06807.hp2 HG02055.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0040 a0002c0003t0002g0075 a0001c0001t0002g0040 a0002c0003t0002g0075	2	67	0.0299	18	c.977 others(35): Show c.977-6539_977-6522dupCACACACACACACACACA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	14/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGAG others(11): Show AGAGAGAGAGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	74	0.0135	18	c.-49 others(29): Show c.-4924_-4923insACACACACACTCTCTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGAG others(11): Show AGAGAGAGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	74	0.0135	18	c.-49 others(29): Show c.-4924_-4923insACACACACACACTCTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGTG others(11): Show AGAGAGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01952.hp1 others(13): Show HG01109.hp1 HG01109.hp2 HG01952.hp1 HG02015.hp2 HG02080.hp1 HG02083.hp1 HG02148.hp1 HG02683.hp2 HG03831.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18956.hp2 NA19067.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0018 a0001c0002t0002	a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0113 others(13): Show a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0002g0168 a0001c0001t0005g0181 a0001c0001t0013g0163 a0001c0001t0013g0164 a0001c0001t0018g0010 a0001c0002t0002g0150 a0001c0002t0002g0165	16	89	0.1798	18	c.-49 others(29): Show c.-4924_-4923insACACACACACACACTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGTGTG others(11): Show AGAGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02630.hp2 HG03225.hp2 others(1): Show HG00741.hp1 HG02630.hp2 HG03225.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0001t0001 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0062 a0001c0001t0006g0029 a0001c0001t0006g0061 others(1): Show a0001c0001t0001g0062 a0001c0001t0006g0029 a0001c0001t0006g0061 a0001c0002t0002g0026	4	77	0.0519	18	c.-49 others(29): Show c.-4924_-4923insACACACACACACACACTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPM_chr1_197079127_197151669	197145845	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0004 a0011c0013t0004	a0011c0013t0004g0046 a0011c0013t0004g0046	1	36	0.0278	18	c.297 others(33): Show c.297+278_297+295dupATATATATATATATATAT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	1/27			chr1	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01256.hp2 HG02293.hp2 others(9): Show HG00423.hp2 HG01256.hp2 HG02293.hp2 HG02486.hp1 HG03516.hp1 HG03831.hp1 NA18949.hp2 NA18955.hp1 NA18998.hp1 NA19000.hp1 NA19066.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0045 a0001c0001 a0001c0003 a0001c0045	a0001c0001t0001 a0001c0003t0001 a0001c0045t0001 a0001c0001t0001 a0001c0003t0001 a0001c0045t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0121 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0121 a0001c0003t0001g0002 a0001c0003t0001g0036 a0001c0003t0001g0171 a0001c0003t0001g0179 a0001c0003t0001g0184 a0001c0003t0001g0190 a0001c0003t0001g0193 a0001c0045t0001g0202	12	39	0.3077	18	c.-18 others(29): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(11): Show GGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG03209.hp1 HG01109.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	2	289	0.0069	18	c.42 others(29): Show c.4205_*4206insTTCTTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASRGL1_chr11_62332448_62398412	62362714	T T	TATTATAT others(11): Show TATTATATATTATATAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01978.hp2 others(11): Show HG00438.hp2 HG00621.hp2 HG01978.hp2 HG02080.hp2 HG02165.hp2 HG02523.hp2 NA18747.hp2 NA18946.hp2 NA18966.hp1 NA18977.hp2 NA18992.hp1 NA19065.hp2 NA19078.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0030 a0001c0001t0002 a0001c0001t0014 a0001c0001t0030	a0001c0001t0002g0191 a0001c0001t0002g0264 a0001c0001t0002g0267 others(11): Show a0001c0001t0002g0191 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0014g0266 a0001c0001t0014g0286 a0001c0001t0030g0239	14	366	0.0383	18	c.491 others(35): Show c.491+5570_491+5571insATTATATATTATATAAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362813	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02258.hp2 HG02559.hp2 others(6): Show HG02056.hp2 HG02258.hp2 HG02559.hp2 HG03710.hp2 NA18987.hp1 NA19010.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0033 a0001c0002t0003 others(1): Show a0001c0001t0003 a0001c0001t0033 a0001c0002t0003 a0001c0003t0001	a0001c0001t0003g0013 a0001c0001t0003g0140 a0001c0001t0033g0328 others(6): Show a0001c0001t0003g0013 a0001c0001t0003g0140 a0001c0001t0033g0328 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0303 a0001c0002t0003g0306 a0001c0003t0001g0092	9	34	0.2647	18	c.491 others(35): Show c.491+5683_491+5700dupCACACACACACACACACA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130461201	C C	CATGGGTG others(11): Show CATGGGTGGGTGGGTGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00733.hp1 others(70): Show HG00099.hp2 HG00597.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01975.hp2 HG02055.hp2 HG02109.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18942.hp1 NA18950.hp1 NA18986.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19065.hp1 NA19070.hp1 NA19086.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0008 a0003c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0003c0008t0001 a0003c0015t0001	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0042 others(65): Show a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0196 a0001c0001t0001g0224 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0053 a0001c0002t0001g0136 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0225 a0001c0002t0002g0179 a0001c0003t0001g0149 a0001c0003t0001g0188 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0282 a0001c0003t0001g0292 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0321 a0001c0003t0001g0322 a0001c0003t0001g0336 a0003c0008t0001g0200 a0003c0008t0001g0201 a0003c0015t0001g0211	73	372	0.1962	18	c.363 others(35): Show c.363+2623_363+2640dupGGGTGAGTATGGGTGGGT	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176942866	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18981.hp2 NA20805.hp1 HG00673.hp1 NA18981.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0013 a0001c0001 a0002c0004 a0004c0013	a0001c0001t0001 a0002c0004t0003 a0004c0013t0001 a0001c0001t0001 a0002c0004t0003 a0004c0013t0001	a0001c0001t0001g0107 a0002c0004t0003g0087 a0004c0013t0001g0001 a0001c0001t0001g0107 a0002c0004t0003g0087 a0004c0013t0001g0001	3	9	0.3333	18	c.237 others(37): Show c.2377+1024_2377+1025insAATATATATATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116446258	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19066.hp2 HG01099.hp1 NA19066.hp2	a0001 a0001	a0001c0009 a0001c0017 a0001c0009 a0001c0017	a0001c0009t0004 a0001c0017t0002 a0001c0009t0004 a0001c0017t0002	a0001c0009t0004g0032 a0001c0017t0002g0089 a0001c0009t0004g0032 a0001c0017t0002g0089	2	100	0.0200	18	c.349 others(37): Show c.3498-3706_3498-3705insATCTCTCTCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116462787	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0024 a0001c0002t0008g0024	1	93	0.0108	18	c.349 others(39): Show c.3498-20235_3498-20234insACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116462788	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0003 a0002c0004t0006g0003	1	20	0.0500	18	c.349 others(39): Show c.3498-20253_3498-20236dupCACACACACACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116490272	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01169.hp2 others(4): Show HG00099.hp2 HG01081.hp2 HG01169.hp2 HG01496.hp1 HG01515.hp2 HG02572.hp2 NA19066.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0011 a0003c0016	a0001c0001t0004 a0001c0002t0004 a0001c0003t0002 others(3): Show a0001c0001t0004 a0001c0002t0004 a0001c0003t0002 a0001c0009t0004 a0001c0011t0004 a0003c0016t0004	a0001c0001t0004g0059 a0001c0002t0004g0061 a0001c0002t0004g0092 others(4): Show a0001c0001t0004g0059 a0001c0002t0004g0061 a0001c0002t0004g0092 a0001c0003t0002g0044 a0001c0009t0004g0032 a0001c0011t0004g0097 a0003c0016t0004g0027	7	23	0.3043	18	c.335 others(37): Show c.3356-2790_3356-2773dupTTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586812	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02922.hp1 NA19043.hp1 HG01261.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0007 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0005t0005g0007 a0001c0005t0005g0076 a0001c0005t0005g0084	3	86	0.0349	18	c.335 others(39): Show c.3355+31511_3355+31512insTGTGTGTGTGTGTGTGTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586833	C C	CACACACA others(11): Show CACACACACACACATACAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02559.hp1 HG02559.hp2 others(4): Show HG02004.hp1 HG02559.hp1 HG02559.hp2 HG03017.hp1 HG04199.hp2 NA19012.hp2 NA19066.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0022 others(2): Show a0001c0001 a0001c0002 a0001c0022 a0005c0024 a0006c0020	a0001c0001t0002 a0001c0001t0007 a0001c0002t0003 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0003 a0001c0002t0010 a0001c0022t0001 a0005c0024t0013 a0006c0020t0001	a0001c0001t0002g0070 a0001c0001t0007g0087 a0001c0002t0003g0094 others(4): Show a0001c0001t0002g0070 a0001c0001t0007g0087 a0001c0002t0003g0094 a0001c0002t0010g0063 a0001c0022t0001g0020 a0005c0024t0013g0101 a0006c0020t0001g0039	7	84	0.0833	18	c.335 others(39): Show c.3355+31490_3355+31491insATGTATGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116609379	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01261.hp2 others(2): Show HG01099.hp2 HG01109.hp2 HG01261.hp2 HG03041.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0018 a0001c0001 a0001c0003 a0004c0018	a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0003t0006 a0004c0018t0003	a0001c0001t0003g0090 a0001c0001t0006g0014 a0001c0001t0015g0045 others(2): Show a0001c0001t0003g0090 a0001c0001t0006g0014 a0001c0001t0015g0045 a0001c0003t0006g0026 a0004c0018t0003g0031	5	16	0.3125	18	c.335 others(37): Show c.3355+8927_3355+8944dupTATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815804	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	20	0.0500	18	c.220 others(37): Show c.2207+4795_2207+4812dupTTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116855319	G G	GCTCCTGA others(11): Show GCTCCTGATTGAGGAGCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(88): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp2 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0002c0004 a0003c0016 a0003c0019 a0004c0018 a0005c0024 a0006c0020 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0005t0005 a0001c0006t0002 a0001c0007t0001 a0001c0008t0005 a0001c0009t0004 a0001c0010t0001 a0001c0010t0004 a0001c0011t0004 a0001c0013t0009 a0001c0014t0017 a0001c0017t0002 a0001c0021t0006 a0001c0022t0001 a0001c0023t0002 a0001c0025t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0003c0016t0004 a0003c0019t0002 a0004c0018t0003 a0005c0024t0013 a0006c0020t0001 a0007c0015t0003	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(88): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0050 a0001c0001t0003g0013 a0001c0001t0003g0062 a0001c0001t0003g0090 a0001c0001t0004g0059 a0001c0001t0005g0035 a0001c0001t0005g0077 a0001c0001t0005g0096 a0001c0001t0006g0016 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0008g0008 a0001c0001t0008g0064 a0001c0001t0009g0086 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0001t0016g0075 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0043 a0001c0002t0004g0061 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0003t0001g0038 a0001c0003t0001g0054 a0001c0003t0003g0030 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0003t0006g0017 a0001c0003t0006g0026 a0001c0003t0007g0071 a0001c0003t0007g0074 a0001c0003t0010g0051 a0001c0003t0012g0001 a0001c0003t0014g0083 a0001c0005t0005g0007 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0006t0002g0012 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0013t0009g0072 a0001c0014t0017g0049 a0001c0017t0002g0089 a0001c0021t0006g0055 a0001c0022t0001g0020 a0001c0023t0002g0069 a0001c0025t0001g0080 a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0002c0004t0006g0003 a0003c0016t0004g0027 a0003c0019t0002g0025 a0004c0018t0003g0031 a0005c0024t0013g0101 a0006c0020t0001g0039 a0007c0015t0003g0019	91	100	0.9100	18	c.204 others(37): Show c.2040+8246_2040+8263dupTAGCTCCTCAATCAGGAG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116914547	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0083 a0001c0003t0014g0083	1	69	0.0145	18	c.189 others(39): Show c.1890-50832_1890-50815dupTAATAATAATAATAATAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116948785	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01515.hp2 HG02886.hp2 others(4): Show HG01261.hp1 HG01515.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp2 HG04199.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0012 others(3): Show a0001c0001 a0001c0005 a0001c0012 a0001c0023 a0003c0016 a0003c0019	a0001c0001t0001 a0001c0001t0006 a0001c0005t0005 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0005t0005 a0001c0012t0001 a0001c0023t0002 a0003c0016t0004 a0003c0019t0002	a0001c0001t0001g0100 a0001c0001t0006g0014 a0001c0005t0005g0076 others(4): Show a0001c0001t0001g0100 a0001c0001t0006g0014 a0001c0005t0005g0076 a0001c0012t0001g0098 a0001c0023t0002g0069 a0003c0016t0004g0027 a0003c0019t0002g0025	7	12	0.5833	18	c.188 others(39): Show c.1889+26422_1889+26423insAAAAACAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116948785	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG02965.hp1 HG01884.hp2 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0001t0002 a0001c0025t0001 a0001c0001t0001 a0001c0001t0002 a0001c0025t0001	a0001c0001t0001g0037 a0001c0001t0002g0018 a0001c0025t0001g0080 a0001c0001t0001g0037 a0001c0001t0002g0018 a0001c0025t0001g0080	3	8	0.3750	18	c.188 others(39): Show c.1889+26405_1889+26422dupAAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01099.hp1 others(12): Show HG00099.hp2 HG01081.hp2 HG01099.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01934.hp1 HG02004.hp2 HG03239.hp2 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0017	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0009t0004 a0001c0010t0001 a0001c0010t0004 a0001c0017t0002	a0001c0001t0004g0059 a0001c0002t0001g0042 a0001c0002t0002g0023 others(12): Show a0001c0001t0004g0059 a0001c0002t0001g0042 a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0003g0021 a0001c0002t0003g0068 a0001c0002t0004g0043 a0001c0002t0004g0061 a0001c0002t0004g0091 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0017t0002g0089	15	20	0.7500	18	c.159 others(37): Show c.1591+4544_1591+4561dupACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003953	C C	CGCGCGCG others(11): Show CGCGCGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0086 a0001c0001t0009g0086	1	78	0.0128	18	c.159 others(37): Show c.1591+4138_1591+4139insACACACACACACGCGCGC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117108438	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19065.hp2 HG00735.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0040 a0001c0001t0008g0008 a0001c0001t0002g0040 a0001c0001t0008g0008	2	19	0.1053	18	c.116 others(39): Show c.1169-12305_1169-12288dupGTGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120018	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0089 a0001c0017t0002g0089	1	40	0.0250	18	c.116 others(39): Show c.1168+21307_1168+21308insTATATATATATATACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120018	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0005 a0002c0004t0002g0005	1	40	0.0250	18	c.116 others(39): Show c.1168+21307_1168+21308insTATATATATACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120049	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp1 NA20300.hp1 HG02572.hp1 HG02886.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0013 a0002c0004 a0001c0003 a0001c0013 a0002c0004	a0001c0003t0004 a0001c0013t0009 a0002c0004t0005 a0001c0003t0004 a0001c0013t0009 a0002c0004t0005	a0001c0003t0004g0085 a0001c0013t0009g0072 a0002c0004t0005g0006 a0001c0003t0004g0085 a0001c0013t0009g0072 a0002c0004t0005g0006	3	91	0.0330	18	c.116 others(39): Show c.1168+21276_1168+21277insGTATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0075 a0001c0001t0016g0075	1	19	0.0526	18	c.631 others(37): Show c.631-10811_631-10794dupTATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(11): Show GTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp1 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0015 a0001c0013t0009 a0001c0001t0015 a0001c0013t0009	a0001c0001t0015g0045 a0001c0013t0009g0072 a0001c0001t0015g0045 a0001c0013t0009g0072	2	20	0.1000	18	c.631 others(37): Show c.631-10794_631-10793insTATATATATATATACATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117374369	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02572.hp1 others(1): Show HG01243.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0013	a0001c0001t0002 a0001c0003t0007 a0001c0008t0005 others(1): Show a0001c0001t0002 a0001c0003t0007 a0001c0008t0005 a0001c0013t0009	a0001c0001t0002g0070 a0001c0003t0007g0071 a0001c0008t0005g0073 others(1): Show a0001c0001t0002g0070 a0001c0003t0007g0071 a0001c0008t0005g0073 a0001c0013t0009g0072	4	23	0.1739	18	c.442 others(37): Show c.442+40110_442+40127dupTTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32377972	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01123.hp1 others(24): Show HG00323.hp1 HG00735.hp1 HG01123.hp1 HG01175.hp2 HG01993.hp1 HG02129.hp2 HG02145.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp2 HG02976.hp2 HG03239.hp2 HG03453.hp2 HG03654.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18948.hp1 NA18948.hp2 NA18978.hp1 NA18982.hp2 NA18988.hp2 NA19043.hp2 NA19056.hp2 NA19077.hp2 NA19240.hp2 NA20752.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0011 a0012	a0001c0002 a0001c0008 a0001c0019 others(5): Show a0001c0002 a0001c0008 a0001c0019 a0003c0004 a0003c0024 a0006c0007 a0011c0023 a0012c0016	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0008t0001 a0001c0019t0012 a0003c0004t0003 a0003c0024t0011 a0006c0007t0001 a0011c0023t0002 a0012c0016t0002	a0001c0002t0001g0253 a0001c0002t0002g0200 a0001c0002t0002g0203 others(24): Show a0001c0002t0001g0253 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0211 a0001c0002t0002g0214 a0001c0002t0002g0218 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0238 a0001c0002t0002g0241 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0261 a0001c0002t0002g0278 a0001c0002t0005g0279 a0001c0002t0010g0213 a0001c0008t0001g0082 a0001c0019t0012g0094 a0003c0004t0003g0096 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0024t0011g0103 a0006c0007t0001g0046 a0006c0007t0001g0047 a0006c0007t0001g0048 a0011c0023t0002g0271 a0012c0016t0002g0229	27	104	0.2596	18	c.252 others(35): Show c.252+8863_252+8880dupGTGTGTGTGTGTGTGTGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32378158	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 NA19030.hp2 others(1): Show HG02258.hp1 HG02922.hp1 NA19030.hp2 NA20300.hp2	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0005 a0005c0009 a0015c0027 a0001c0005 a0005c0009 a0015c0027	a0001c0005t0001 a0005c0009t0003 a0015c0027t0001 a0001c0005t0001 a0005c0009t0003 a0015c0027t0001	a0001c0005t0001g0186 a0001c0005t0001g0187 a0005c0009t0003g0180 others(1): Show a0001c0005t0001g0186 a0001c0005t0001g0187 a0005c0009t0003g0180 a0015c0027t0001g0141	4	93	0.0430	18	c.252 others(35): Show c.252+9055_252+9072dupGTGTGTGTGTGTGTGTGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar

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