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
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATAT others(7): Show ATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA19064.hp1 NA18939.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0001 a0001c0001t0001g0020	2	149	0.0134	14	c.-44 others(25): Show c.-4459_-4458insTATATATATTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATAT others(7): Show ATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	148	0.0068	14	c.-44 others(25): Show c.-4459_-4458insTATATATTTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	148	0.0068	14	c.-44 others(25): Show c.-4459_-4458insTATATTTTTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATTTTT others(7): Show ATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	148	0.0068	14	c.-44 others(25): Show c.-4459_-4458insTATTTTTTTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC2_chr19_18003170_18019102	18003287	G G	GACAGGGT others(7): Show GACAGGGTCTTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	412	0.0024	14	c.-50 others(25): Show c.-5024_-5023insACAGGGTCTTACTC	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding		4882		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTAT others(7): Show CTCTCTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 NA18962.hp2 NA18983.hp2 others(2): Show HG02056.hp2 NA18962.hp2 NA18983.hp2 NA18989.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0096 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0096 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0214	5	143	0.0350	14	c.43 others(25): Show c.4349_*4350insTATATATATAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTCT others(7): Show CTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	139	0.0072	14	c.43 others(25): Show c.4349_*4350insTATATATAGAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTCT others(7): Show CTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02129.hp1 HG00558.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0151 a0001c0001t0001g0129 a0001c0001t0001g0151	2	140	0.0143	14	c.43 others(25): Show c.4349_*4350insTATATAGAGAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18991.hp2 HG00597.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0116 a0001c0001t0001g0089 a0001c0001t0001g0116	2	140	0.0143	14	c.43 others(25): Show c.4349_*4350insTATAGAGAGAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886710	A A	ATATATAT others(7): Show ATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01891.hp1 NA18951.hp2 HG01261.hp2 HG01891.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0002t0001g0358 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0002t0001g0358	3	223	0.0135	14	c.43 others(25): Show c.4335_*4336insAAAAAAAATATATA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3726		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4894510	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG02735.hp2 others(5): Show HG01123.hp1 HG01261.hp1 HG02735.hp2 HG02970.hp2 HG03017.hp2 HG03486.hp2 HG03927.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0001c0001t0001 a0001c0001t0002 a0001c0008t0002	a0001c0001t0001g0080 a0001c0001t0001g0264 a0001c0001t0001g0278 others(5): Show a0001c0001t0001g0080 a0001c0001t0001g0264 a0001c0001t0001g0278 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0002g0044 a0001c0008t0002g0027	8	14	0.5714	14	c.459 others(31): Show c.459+2147_459+2160dupTTTTTTTTTTTTTT	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2			chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4903019	C C	CTCACTGG others(7): Show CTCACTGGTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00642.hp2 others(48): Show HG00140.hp2 HG00280.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02300.hp2 HG02486.hp2 HG02647.hp1 HG02922.hp2 HG03017.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18957.hp2 NA18962.hp1 NA18987.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0008t0002 a0002c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0083 a0001c0001t0001g0109 others(47): Show a0001c0001t0001g0036 a0001c0001t0001g0083 a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0240 a0001c0001t0001g0336 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0002t0001g0358 a0001c0002t0001g0376 a0001c0002t0001g0377 a0001c0002t0001g0378 a0001c0002t0002g0026 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0353 a0001c0002t0002g0354 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0002g0359 a0001c0002t0002g0360 a0001c0002t0002g0361 a0001c0002t0002g0362 a0001c0002t0002g0363 a0001c0002t0002g0364 a0001c0002t0002g0365 a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0002g0368 a0001c0002t0002g0369 a0001c0002t0002g0370 a0001c0002t0002g0371 a0001c0002t0002g0372 a0001c0002t0002g0373 a0001c0002t0002g0374 a0001c0002t0002g0375 a0001c0008t0002g0027 a0002c0003t0001g0006 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031	51	410	0.1244	14	c.-19 others(23): Show c.-195_-194insAAAAGAACCAGTGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		124		chr19	TogoVar
ARSB_chr5_78772209_78990310	78972516	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02040.hp2 HG02055.hp2 others(5): Show HG00741.hp1 HG02040.hp2 HG02055.hp2 HG02145.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0043 a0001c0001t0044 a0001c0003t0006 others(3): Show a0001c0001t0043 a0001c0001t0044 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0015t0027	a0001c0001t0043g0089 a0001c0001t0044g0090 a0001c0003t0006g0103 others(5): Show a0001c0001t0043g0089 a0001c0001t0044g0090 a0001c0003t0006g0103 a0001c0003t0006g0263 a0001c0003t0007g0008 a0001c0003t0007g0009 a0001c0003t0009g0281 a0001c0015t0027g0102	8	105	0.0762	14	c.313 others(31): Show c.313-3338_313-3325dupGTGTGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980725	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG03516.hp1 others(1): Show HG02647.hp2 HG02895.hp1 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0061 a0001c0003t0002 a0001c0003t0006 a0001c0003t0061	a0001c0003t0002g0101 a0001c0003t0002g0209 a0001c0003t0006g0210 others(1): Show a0001c0003t0002g0101 a0001c0003t0002g0209 a0001c0003t0006g0210 a0001c0003t0061g0208	4	340	0.0118	14	c.312 others(31): Show c.312+4211_312+4212insACACACACACACAC	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980744	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01258.hp1 others(14): Show HG00408.hp2 HG00438.hp2 HG01258.hp1 HG01978.hp2 HG02040.hp2 HG02280.hp2 HG02818.hp2 HG02922.hp1 HG03195.hp1 NA18943.hp2 NA18952.hp2 NA18959.hp1 NA18978.hp2 NA18983.hp2 NA18985.hp1 NA19066.hp1 NA19077.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0003t0009 a0001c0003t0016 a0001c0003t0018 a0001c0007t0036 a0002c0002t0001 a0002c0002t0026 a0004c0006t0024	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0104 others(14): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0104 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0008g0279 a0001c0001t0011g0105 a0001c0001t0013g0116 a0001c0001t0021g0119 a0001c0001t0021g0120 a0001c0003t0009g0281 a0001c0003t0016g0258 a0001c0003t0018g0260 a0001c0007t0036g0259 a0002c0002t0001g0298 a0002c0002t0026g0122 a0004c0006t0024g0121	17	265	0.0642	14	c.312 others(31): Show c.312+4192_312+4193insTACACACACACACA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSF_chrX_3036471_3117727	3037160	A A	AATATTAT others(7): Show AATATTATATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02896.hp2 others(1): Show HG01109.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 others(1): Show a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185	4	187	0.0214	14	c.-45 others(25): Show c.-4532_-4531insATATTATATAAAAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4310		chrX	TogoVar
ARSF_chrX_3036471_3117727	3055342	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02622.hp1 HG02895.hp1 others(1): Show HG01071.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0002c0004t0001g0090 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0002c0004t0001g0090 a0002c0004t0001g0179	4	149	0.0268	14	c.-28 others(33): Show c.-28-12721_-28-12708dupAAAAAAAAAAAAAA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSG_chr17_68286495_68425814	68366677	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	160	0.0063	14	c.705 others(31): Show c.705-1855_705-1842dupGTGTGTGTGTGTGT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68379421	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG01884.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0176 a0001c0001t0001g0037 a0001c0001t0001g0176	2	78	0.0256	14	c.983 others(31): Show c.983-5627_983-5614dupTTTTTTTTTTTTTT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68393867	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG02896.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0139 a0001c0003t0003g0253 a0001c0003t0001g0139 a0001c0003t0003g0253	2	213	0.0094	14	c.109 others(33): Show c.1092-1205_1092-1192dupAAAAAAAAAAAAAA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3037160	A A	AATATTAT others(7): Show AATATTATATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02897.hp2 HG01109.hp1 HG02622.hp2 HG02897.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0021 a0003c0005t0005g0191 a0003c0005t0005g0021 a0003c0005t0005g0191	3	239	0.0126	14	c.37 others(25): Show c.3775_*3776insATATTATATAAAAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		3050		chrX	TogoVar
ART4_chr12_14820569_14848526	14824817	T T	TACACACA others(7): Show TACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03017.hp2 HG02738.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0083 a0002c0002t0004g0108 a0002c0002t0004g0083 a0002c0002t0004g0108	2	166	0.0120	14	c.45 others(25): Show c.4540_*4553dupGTGTGTGTGTGTGT	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding		751		chr12	TogoVar
ART4_chr12_14820569_14848526	14830119	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01978.hp2 others(3): Show HG01070.hp1 HG01074.hp1 HG01978.hp2 HG01993.hp1 HG02293.hp2 NA18981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0002c0002t0028 a0001c0001t0004 a0002c0002t0004 a0002c0002t0028	a0001c0001t0004g0230 a0002c0002t0004g0081 a0002c0002t0004g0086 others(3): Show a0001c0001t0004g0230 a0002c0002t0004g0081 a0002c0002t0004g0086 a0002c0002t0004g0092 a0002c0002t0004g0101 a0002c0002t0028g0082	6	166	0.0361	14	c.854 others(29): Show c.854-671_854-658dupACACACACACACAC	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
ART4_chr12_14820569_14848526	14830649	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	79	0.0127	14	c.854 others(31): Show c.854-1201_854-1188dupTATATATATATATA	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
ARV1_chr1_230974094_231005733	230983418	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	400	0.0025	14	c.174 others(31): Show c.174+4150_174+4151insAATAAAAAAAAAAA	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984355	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	399	0.0025	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGCGTGTGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984357	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0102 a0001c0001t0001g0103	2	399	0.0050	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGTGCGTGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984359	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	309	0.0032	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGTGCGCGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984359	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	309	0.0032	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGTGTGCGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984361	T T	TGTGTGTG others(7): Show TGTGTGTGCGCGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18950.hp2 NA21309.hp1 HG00438.hp1 NA18950.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0002 a0001c0001t0001g0177 a0001c0001t0001g0178	3	392	0.0077	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGCGCGTGCG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984365	T T	TGTGTGTG others(7): Show TGTGTGTGCGCGTGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03942.hp2 HG03831.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0152 a0001c0001t0001g0153	2	355	0.0056	14	c.175 others(31): Show c.175-3948_175-3947insCGCGTGCGTGTGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230986668	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA19087.hp2 HG03492.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0128 a0001c0001t0001g0018 a0001c0001t0001g0128	2	146	0.0137	14	c.175 others(31): Show c.175-1627_175-1614dupTTTTTTTTTTTTTT	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARX_chrX_24998694_25020965	25018639	T T	TTATATAT others(7): Show TTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00733.hp1 others(11): Show HG00323.hp1 HG00408.hp1 HG00733.hp1 HG02109.hp2 HG02148.hp1 HG02976.hp1 HG03471.hp1 NA18973.hp1 NA18980.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0002g0002 a0001c0001t0002g0010	14	123	0.1138	14	c.-29 others(25): Show c.-2903_-2902insTATATATATATATA	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2675		chrX	TogoVar
ARX_chrX_24998694_25020965	25018662	T T	TATATATA others(7): Show TATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02897.hp2 others(2): Show HG01243.hp1 HG02257.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0072 a0001c0001t0002g0010 a0001c0001t0007g0082 a0001c0001t0001g0072 a0001c0001t0002g0010 a0001c0001t0007g0082	5	294	0.0170	14	c.-29 others(25): Show c.-2926_-2925insTTATATATATATAT	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2698		chrX	TogoVar
AR_chrX_67539021_67735619	67562376	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0045 a0007c0025t0045	a0007c0025t0045g0008 a0007c0025t0045g0008	1	191	0.0052	14	c.161 others(35): Show c.1616+15627_1616+15628insCTGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67604198	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG02818.hp2 others(1): Show HG01891.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp1	a0001 a0006 a0016 a0001 a0006 a0016	a0001c0001 a0006c0003 a0016c0027 a0001c0001 a0006c0003 a0016c0027	a0001c0001t0019 a0006c0003t0004 a0016c0027t0010 a0001c0001t0019 a0006c0003t0004 a0016c0027t0010	a0001c0001t0019g0175 a0001c0001t0019g0176 a0006c0003t0004g0177 others(1): Show a0001c0001t0019g0175 a0001c0001t0019g0176 a0006c0003t0004g0177 a0016c0027t0010g0171	4	24	0.1667	14	c.161 others(35): Show c.1617-39024_1617-39011dupGTGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01109.hp1 others(6): Show HG00099.hp1 HG00642.hp1 HG01109.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp1 HG03834.hp2 NA19043.hp1 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0015	a0001c0001 a0001c0009 a0002c0010 others(5): Show a0001c0001 a0001c0009 a0002c0010 a0004c0004 a0005c0006 a0008c0007 a0015c0022 a0015c0023	a0001c0001t0010 a0001c0009t0008 a0002c0010t0014 others(6): Show a0001c0001t0010 a0001c0009t0008 a0002c0010t0014 a0004c0004t0027 a0005c0006t0008 a0005c0006t0010 a0008c0007t0010 a0015c0022t0004 a0015c0023t0008	a0001c0001t0010g0166 a0001c0009t0008g0132 a0002c0010t0014g0158 others(6): Show a0001c0001t0010g0166 a0001c0009t0008g0132 a0002c0010t0014g0158 a0004c0004t0027g0182 a0005c0006t0008g0122 a0005c0006t0010g0120 a0008c0007t0010g0124 a0015c0022t0004g0112 a0015c0023t0008g0180	9	102	0.0882	14	c.260 others(31): Show c.2607+329_2607+330insCTGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67728574	A A	AATATATA others(7): Show AATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01928.hp1 HG03130.hp1 others(4): Show HG00738.hp1 HG01928.hp1 HG03130.hp1 HG03654.hp1 HG03834.hp1 HG04199.hp1 NA20752.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0009 a0001c0026 a0003c0002 others(3): Show a0001c0009 a0001c0026 a0003c0002 a0004c0004 a0005c0011 a0006c0003	a0001c0009t0042 a0001c0026t0025 a0003c0002t0017 others(3): Show a0001c0009t0042 a0001c0026t0025 a0003c0002t0017 a0004c0004t0031 a0005c0011t0052 a0006c0003t0017	a0001c0009t0042g0135 a0001c0026t0025g0139 a0003c0002t0017g0005 others(4): Show a0001c0009t0042g0135 a0001c0026t0025g0139 a0003c0002t0017g0005 a0003c0002t0017g0014 a0004c0004t0031g0170 a0005c0011t0052g0068 a0006c0003t0017g0060	7	32	0.2188	14	c.47 others(25): Show c.4761_*4774dupTATATATATATATA	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	8/8	4775	INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102906274	A A	AATATATA others(7): Show AATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01433.hp2 NA18963.hp2 HG01123.hp2 HG01433.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0008 a0001c0008t0003 a0001c0001t0002 a0001c0001t0008 a0001c0008t0003	a0001c0001t0002g0119 a0001c0001t0008g0062 a0001c0008t0003g0085 a0001c0001t0002g0119 a0001c0001t0008g0062 a0001c0008t0003g0085	3	337	0.0089	14	c.55 others(25): Show c.5574_*5575insATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4376		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	112	0.0089	14	c.55 others(25): Show c.5576_*5577insAAAAAAATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAATATA others(7): Show AAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA19030.hp1 HG00639.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0006 a0001c0001t0003 a0001c0006t0006	a0001c0001t0003g0001 a0001c0006t0006g0178 a0001c0001t0003g0001 a0001c0006t0006g0178	2	113	0.0177	14	c.55 others(25): Show c.5576_*5577insAAATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAATTATA others(7): Show AAATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	112	0.0089	14	c.55 others(25): Show c.5576_*5577insAATTATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AATATATA others(7): Show AATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01496.hp1 others(5): Show HG01257.hp2 HG01258.hp1 HG01496.hp1 HG02486.hp2 HG02922.hp2 HG04228.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0140 a0001c0001t0003g0001 a0001c0001t0003g0010 others(5): Show a0001c0001t0002g0140 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0092 a0001c0001t0006g0028	8	119	0.0672	14	c.55 others(25): Show c.5576_*5577insATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAH1_chr8_18050992_18089107	18075001	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01169.hp1 others(31): Show HG00323.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01952.hp1 HG02083.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02630.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18945.hp2 NA18972.hp1 NA18995.hp1 NA18999.hp1 NA19004.hp2 NA19043.hp1 NA19054.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0071 a0001c0001t0004g0009 a0001c0001t0004g0012 others(23): Show a0001c0001t0001g0071 a0001c0001t0004g0009 a0001c0001t0004g0012 a0001c0001t0004g0029 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0007g0058 a0001c0001t0007g0064 a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0225 a0001c0001t0007g0226 a0001c0001t0007g0256 a0001c0001t0020g0075 a0001c0001t0021g0057 a0001c0001t0022g0081	34	409	0.0831	14	c.125 others(29): Show c.125+539_125+540insAAAAAAAAAAAAAA	ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	2/13			chr8	TogoVar
ASAH2_chr10_50179861_50256516	50203577	A A	AATCCTAT others(7): Show AATCCTATGGTGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03491.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0004 a0002c0001 a0002c0006 others(3): Show a0001c0004 a0002c0001 a0002c0006 a0003c0003 a0003c0008 a0010c0014	a0001c0004t0012 a0002c0001t0009 a0002c0001t0012 others(21): Show a0001c0004t0012 a0002c0001t0009 a0002c0001t0012 a0002c0001t0050 a0002c0001t0052 a0002c0006t0016 a0002c0006t0043 a0002c0006t0051 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0015 a0003c0003t0021 a0003c0003t0028 a0003c0003t0029 a0003c0003t0035 a0003c0003t0040 a0003c0003t0042 a0003c0003t0045 a0003c0003t0046 a0003c0003t0047 a0003c0008t0002 a0003c0008t0015 a0010c0014t0002	a0001c0004t0012g0001 a0001c0004t0012g0287 a0002c0001t0009g0005 others(96): Show a0001c0004t0012g0001 a0001c0004t0012g0287 a0002c0001t0009g0005 a0002c0001t0009g0049 a0002c0001t0009g0054 a0002c0001t0009g0055 a0002c0001t0009g0056 a0002c0001t0009g0058 a0002c0001t0009g0059 a0002c0001t0009g0060 a0002c0001t0009g0062 a0002c0001t0009g0065 a0002c0001t0012g0057 a0002c0001t0050g0050 a0002c0001t0052g0053 a0002c0006t0016g0069 a0002c0006t0043g0263 a0002c0006t0051g0290 a0003c0003t0002g0003 a0003c0003t0002g0007 a0003c0003t0002g0025 a0003c0003t0002g0027 a0003c0003t0002g0030 a0003c0003t0002g0063 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0140 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0147 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0155 a0003c0003t0002g0157 a0003c0003t0002g0161 a0003c0003t0002g0164 a0003c0003t0002g0165 a0003c0003t0002g0167 a0003c0003t0002g0169 a0003c0003t0002g0171 a0003c0003t0002g0175 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0180 a0003c0003t0002g0192 a0003c0003t0002g0194 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0203 a0003c0003t0002g0211 a0003c0003t0002g0221 a0003c0003t0003g0158 a0003c0003t0004g0024 a0003c0003t0004g0124 a0003c0003t0004g0126 a0003c0003t0004g0131 a0003c0003t0004g0134 a0003c0003t0004g0149 a0003c0003t0004g0151 a0003c0003t0004g0154 a0003c0003t0004g0156 a0003c0003t0004g0159 a0003c0003t0004g0163 a0003c0003t0004g0168 a0003c0003t0004g0173 a0003c0003t0004g0174 a0003c0003t0004g0179 a0003c0003t0004g0187 a0003c0003t0004g0196 a0003c0003t0004g0198 a0003c0003t0004g0210 a0003c0003t0015g0137 a0003c0003t0015g0160 a0003c0003t0015g0170 a0003c0003t0015g0172 a0003c0003t0015g0178 a0003c0003t0021g0026 a0003c0003t0021g0201 a0003c0003t0028g0136 a0003c0003t0028g0222 a0003c0003t0029g0162 a0003c0003t0029g0182 a0003c0003t0035g0195 a0003c0003t0040g0183 a0003c0003t0042g0150 a0003c0003t0045g0193 a0003c0003t0046g0166 a0003c0003t0047g0148 a0003c0008t0002g0018 a0003c0008t0002g0084 a0003c0008t0015g0274 a0010c0014t0002g0127	118	406	0.2906	14	c.166 others(29): Show c.1665+62_1665+63insCTTCACCATAGGAT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	15/20			chr10	TogoVar
ASAH2_chr10_50179861_50256516	50206537	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02145.hp2 HG02258.hp1 others(4): Show HG01256.hp1 HG02145.hp2 HG02258.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0002c0022 a0001c0007 a0002c0001 a0002c0022	a0001c0007t0014 a0002c0001t0009 a0002c0022t0003 a0001c0007t0014 a0002c0001t0009 a0002c0022t0003	a0001c0007t0014g0339 a0002c0001t0009g0005 a0002c0001t0009g0059 others(2): Show a0001c0007t0014g0339 a0002c0001t0009g0005 a0002c0001t0009g0059 a0002c0001t0009g0065 a0002c0022t0003g0141	7	55	0.1273	14	c.141 others(31): Show c.1415-454_1415-441dupGTGTGTGTGTGTGT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	12/20			chr10	TogoVar
ASAH2_chr10_50179861_50256516	50212182	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03471.hp1 HG03704.hp2 others(2): Show HG03239.hp2 HG03471.hp1 HG03704.hp2 HG03942.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0006 a0001c0002t0007 a0001c0002t0038 others(1): Show a0001c0002t0006 a0001c0002t0007 a0001c0002t0038 a0001c0010t0036	a0001c0002t0006g0088 a0001c0002t0006g0121 a0001c0002t0007g0120 others(2): Show a0001c0002t0006g0088 a0001c0002t0006g0121 a0001c0002t0007g0120 a0001c0002t0038g0083 a0001c0010t0036g0202	5	198	0.0253	14	c.122 others(31): Show c.1227+776_1227+789dupGTGTGTGTGTGTGT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	10/20			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130071007	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	255	0.0039	14	c.270 others(33): Show c.2701+5340_2701+5341insTCTCTCTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071009	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02622.hp1 others(1): Show HG01891.hp1 HG02559.hp1 HG02622.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0008g0040	4	219	0.0183	14	c.270 others(33): Show c.2701+5338_2701+5339insTCTCTCTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071011	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	77	0.0130	14	c.270 others(33): Show c.2701+5323_2701+5336dupTCTCTCTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar

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