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
ARRB2_chr17_4705632_4726497	4715486	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	346	0.0029	10	c.54+ others(23): Show c.54+447_54+456dupCACACACACA	ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARRB2_chr17_4705632_4726497	4715720	C C	CACACACA others(3): Show CACACACACAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(75): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01255.hp2 HG01358.hp2 HG01517.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02896.hp1 HG03239.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18974.hp1 NA18975.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18993.hp1 NA18998.hp2 NA19002.hp1 NA19012.hp2 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0002c0005t0001 a0001c0001t0001 a0001c0001t0003 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0003g0003 a0001c0001t0003g0121 a0002c0005t0001g0011	78	200	0.3900	10	c.55- others(23): Show c.55-248_55-247insCACAAACACA	ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARRB2_chr17_4705632_4726497	4724411	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp1 others(43): Show HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00735.hp2 HG01074.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03834.hp2 HG04204.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18992.hp1 NA19065.hp2 NA19070.hp1 NA19086.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0002t0001g0007 a0001c0002t0001g0014 a0001c0002t0001g0027 a0001c0002t0001g0058 a0001c0002t0001g0120 a0001c0004t0001g0044 a0002c0005t0001g0011	46	125	0.3680	10	c.33 others(21): Show c.3372_*3373insAAAAAAAAAA	ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding		2915		chr17	TogoVar
ARRB2_chr17_4705632_4726497	4724411	C C	CACAAAAA others(3): Show CACAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01168.hp2 HG02523.hp2 others(1): Show HG00741.hp1 HG01168.hp2 HG02523.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0002t0001g0012 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0002t0001g0012	4	83	0.0482	10	c.33 others(21): Show c.3372_*3373insACAAAAAAAA	ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding		2915		chr17	TogoVar
ARRDC1_chr9_137600686_137620360	137601255	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	294	0.0034	10	c.-44 others(21): Show c.-4463_-4462insTTTTTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4430		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATAT others(3): Show ATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA18998.hp2 NA19070.hp2 others(1): Show HG03471.hp1 NA18998.hp2 NA19070.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0018 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0085	4	151	0.0265	10	c.-44 others(21): Show c.-4459_-4458insTATATATTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATTT others(3): Show ATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	148	0.0068	10	c.-44 others(21): Show c.-4459_-4458insTATATTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATTTTT others(3): Show ATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	148	0.0068	10	c.-44 others(21): Show c.-4459_-4458insTATTTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	148	0.0068	10	c.-44 others(21): Show c.-4459_-4458insTTTTTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC2_chr19_18003170_18019102	18003435	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	359	0.0028	10	c.-48 others(21): Show c.-4876_-4875insTTTTGTTTTG	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding		4734		chr19	TogoVar
ARRDC4_chr15_97955703_97978833	97957254	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00609.hp2 others(51): Show HG00558.hp2 HG00609.hp1 HG00609.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG03710.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18997.hp1 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0007 others(1): Show a0001c0001 a0002c0002 a0004c0007 a0007c0014	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0033 a0004c0007t0004 a0004c0007t0007 a0007c0014t0001	a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0070 others(17): Show a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0070 a0002c0002t0001g0065 a0002c0002t0002g0037 a0002c0002t0003g0004 a0002c0002t0003g0027 a0002c0002t0003g0039 a0002c0002t0003g0076 a0002c0002t0003g0079 a0002c0002t0003g0098 a0002c0002t0004g0003 a0002c0002t0004g0041 a0002c0002t0004g0081 a0002c0002t0004g0082 a0002c0002t0033g0039 a0004c0007t0004g0041 a0004c0007t0007g0003 a0004c0007t0007g0062 a0007c0014t0001g0071	54	181	0.2983	10	c.-36 others(21): Show c.-3608_-3607insAAAAAAAAAA	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding		3448		chr15	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTAT others(3): Show CTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01952.hp2 NA18950.hp1 others(2): Show HG01074.hp2 HG01952.hp2 NA18950.hp1 NA18961.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0082 a0001c0001t0001g0117 a0001c0001t0001g0125	5	143	0.0350	10	c.43 others(21): Show c.4349_*4350insTATATAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTCT others(3): Show CTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA19002.hp2 NA18959.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0321 a0001c0001t0001g0120 a0001c0001t0001g0321	2	140	0.0143	10	c.43 others(21): Show c.4349_*4350insTATAGAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTCT others(3): Show CTCTCTCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	139	0.0072	10	c.43 others(21): Show c.4349_*4350insTAGAGAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886710	A A	ATATATTT others(3): Show ATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03195.hp1 HG03579.hp2 HG03130.hp2 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0302 a0001c0001t0002g0038 a0001c0002t0002g0355 a0001c0001t0001g0302 a0001c0001t0002g0038 a0001c0002t0002g0355	3	223	0.0135	10	c.43 others(21): Show c.4335_*4336insAAAAAATATA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3726		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886710	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01109.hp2 HG02129.hp1 others(4): Show HG00558.hp2 HG01109.hp2 HG02129.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0089 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0151	7	227	0.0308	10	c.43 others(21): Show c.4335_*4336insAAAAAAAAAA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3726		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4894510	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp2 HG03688.hp1 others(1): Show HG01255.hp1 HG01496.hp2 HG03688.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0076 a0001c0002t0002g0369 a0001c0002t0002g0370 others(1): Show a0001c0001t0002g0076 a0001c0002t0002g0369 a0001c0002t0002g0370 a0001c0002t0002g0374	4	10	0.4000	10	c.459 others(27): Show c.459+2151_459+2160dupTTTTTTTTTT	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2			chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4896361	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 NA18955.hp2 others(4): Show HG00642.hp1 HG01168.hp1 NA18955.hp2 NA18960.hp2 NA18968.hp1 NA19009.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 others(4): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0259 a0001c0001t0001g0306 a0001c0001t0001g0308 a0002c0003t0001g0031	7	175	0.0400	10	c.459 others(25): Show c.459+300_459+309dupGTGTGTGTGT	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2			chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4896405	C C	CACACATA others(3): Show CACACATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03017.hp1 NA20752.hp2 HG02109.hp1 HG03017.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0352 a0001c0002t0002g0357 a0001c0002t0002g0359 a0001c0002t0002g0352 a0001c0002t0002g0357 a0001c0002t0002g0359	3	336	0.0089	10	c.459 others(25): Show c.459+265_459+266insATATATGTGT	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2			chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4898665	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01071.hp1 others(37): Show HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02129.hp2 HG02148.hp1 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp2 NA18747.hp2 NA18960.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0008t0002	a0001c0001t0002g0009 a0001c0001t0002g0041 a0001c0001t0002g0045 others(36): Show a0001c0001t0002g0009 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0002t0001g0376 a0001c0002t0002g0361 a0001c0002t0002g0362 a0001c0002t0002g0363 a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0002g0368 a0001c0002t0002g0369 a0001c0002t0002g0370 a0001c0002t0002g0371 a0001c0002t0002g0372 a0001c0002t0002g0373 a0001c0002t0002g0374 a0001c0002t0002g0375 a0001c0008t0002g0027	40	199	0.2010	10	c.254 others(27): Show c.254-1799_254-1790dupAAAAAAAAAA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	1/2			chr19	TogoVar
ARSA_chr22_50617754_50633152	50628193	G G	GGGGCGGG others(3): Show GGGGCGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01074.hp1 others(20): Show HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01346.hp1 HG02055.hp1 HG02165.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG04184.hp2 NA18978.hp1 NA18980.hp1 NA18988.hp1 NA18995.hp2 NA19002.hp2 NA19012.hp2 NA19064.hp1 NA19082.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0004 a0001c0001t0020 a0001c0001t0049 others(4): Show a0001c0001t0004 a0001c0001t0020 a0001c0001t0049 a0002c0002t0001 a0002c0002t0023 a0002c0004t0009 a0002c0004t0028	a0001c0001t0004g0004 a0001c0001t0020g0027 a0001c0001t0049g0070 others(4): Show a0001c0001t0004g0004 a0001c0001t0020g0027 a0001c0001t0049g0070 a0002c0002t0001g0001 a0002c0002t0023g0032 a0002c0004t0009g0009 a0002c0004t0028g0042	23	457	0.0503	10	c.-41 others(19): Show c.-415_-414insGGCCCCGCCC	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		42		chr22	TogoVar
ARSA_chr22_50617754_50633152	50628205	G G	GGGGCGGG others(3): Show GGGGCGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02055.hp1 HG02970.hp1 others(2): Show HG00558.hp2 HG02055.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0004 a0002c0002t0009 a0002c0004t0009 a0001c0001t0004 a0002c0002t0009 a0002c0004t0009	a0001c0001t0004g0004 a0002c0002t0009g0034 a0002c0004t0009g0009 a0001c0001t0004g0004 a0002c0002t0009g0034 a0002c0004t0009g0009	5	418	0.0120	10	c.-42 others(19): Show c.-427_-426insGGCCCCGCCC	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		54		chr22	TogoVar
ARSA_chr22_50617754_50633152	50628205	G G	GGGGGCGG others(3): Show GGGGGCGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02080.hp2 HG03491.hp1 others(1): Show HG02074.hp1 HG02080.hp2 HG03491.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0030 a0001c0001t0004 a0001c0001t0030	a0001c0001t0004g0004 a0001c0001t0030g0044 a0001c0001t0004g0004 a0001c0001t0030g0044	4	417	0.0096	10	c.-42 others(19): Show c.-427_-426insGGCCCGCCCC	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		54		chr22	TogoVar
ARSB_chr5_78772209_78990310	78775210	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01358.hp1 HG01433.hp2 others(19): Show HG00558.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01943.hp2 HG01952.hp2 HG02071.hp2 HG02080.hp1 HG02523.hp2 HG03017.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 NA18747.hp1 NA18946.hp1 NA18951.hp2 NA18953.hp1 NA18961.hp2 NA19001.hp1 NA19002.hp1 NA19011.hp1 NA19063.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0006	a0001c0001t0004 a0001c0001t0007 a0001c0003t0022 others(7): Show a0001c0001t0004 a0001c0001t0007 a0001c0003t0022 a0002c0002t0004 a0002c0002t0007 a0002c0002t0018 a0002c0002t0045 a0003c0004t0004 a0003c0004t0012 a0004c0006t0004	a0001c0001t0004g0018 a0001c0001t0004g0082 a0001c0001t0004g0175 others(19): Show a0001c0001t0004g0018 a0001c0001t0004g0082 a0001c0001t0004g0175 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0001t0004g0337 a0001c0001t0007g0332 a0001c0003t0022g0180 a0002c0002t0004g0078 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0007g0043 a0002c0002t0007g0080 a0002c0002t0007g0313 a0002c0002t0018g0308 a0002c0002t0045g0302 a0003c0004t0004g0213 a0003c0004t0004g0240 a0003c0004t0004g0241 a0003c0004t0012g0214 a0004c0006t0004g0134 a0004c0006t0004g0161	22	357	0.0616	10	c.51 others(21): Show c.5186_*5187insAAAAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding		1998		chr5	TogoVar
ARSB_chr5_78772209_78990310	78812592	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00621.hp2 others(15): Show HG00099.hp2 HG00280.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG01243.hp1 HG02056.hp1 HG02145.hp2 HG02155.hp2 HG02698.hp2 HG02965.hp1 HG03017.hp2 HG03486.hp2 NA18942.hp2 NA18950.hp2 NA18968.hp1 NA19009.hp1 NA19011.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0003t0002 a0001c0003t0048 a0001c0005t0032 a0002c0002t0015 a0002c0002t0019 a0003c0004t0001 a0003c0004t0003 a0003c0004t0054 a0003c0004t0072	a0001c0001t0001g0235 a0001c0001t0001g0315 a0001c0001t0003g0160 others(15): Show a0001c0001t0001g0235 a0001c0001t0001g0315 a0001c0001t0003g0160 a0001c0001t0003g0326 a0001c0001t0004g0018 a0001c0001t0007g0197 a0001c0001t0008g0286 a0001c0001t0020g0027 a0001c0003t0002g0339 a0001c0003t0048g0262 a0001c0005t0032g0204 a0002c0002t0015g0296 a0002c0002t0019g0194 a0003c0004t0001g0133 a0003c0004t0001g0244 a0003c0004t0003g0094 a0003c0004t0054g0233 a0003c0004t0072g0323	18	51	0.3529	10	c.121 others(31): Show c.1213+26754_1213+26763dupGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78834607	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03834.hp1 HG00280.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0026 a0001c0001t0008 a0002c0002t0026	a0001c0001t0008g0297 a0002c0002t0026g0085 a0001c0001t0008g0297 a0002c0002t0026g0085	2	83	0.0241	10	c.121 others(29): Show c.1213+4739_1213+4748dupTATATATATA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78834607	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0124 a0001c0003t0022g0124	1	82	0.0122	10	c.121 others(29): Show c.1213+4748_1213+4749insTATATATACA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78834607	G G	GTGTGTAT others(3): Show GTGTGTATATA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0152 a0002c0002t0006g0152	1	82	0.0122	10	c.121 others(29): Show c.1213+4748_1213+4749insTATATACACA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78873498	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00673.hp1 others(42): Show HG00423.hp1 HG00544.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01361.hp1 HG01978.hp2 HG01981.hp1 HG02132.hp2 HG02155.hp2 HG02258.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp1 HG02897.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03927.hp1 HG04204.hp2 NA18612.hp1 NA18941.hp2 NA18947.hp1 NA18962.hp1 NA18969.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA19001.hp1 NA19004.hp1 NA19010.hp1 NA19057.hp2 NA19085.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0005c0012	a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 others(26): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0012 a0001c0003t0015 a0001c0003t0022 a0001c0003t0025 a0001c0003t0027 a0001c0003t0046 a0001c0003t0056 a0001c0003t0058 a0001c0003t0060 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0019 a0002c0002t0026 a0002c0002t0030 a0002c0002t0033 a0002c0002t0067 a0003c0004t0002 a0005c0012t0032	a0001c0001t0002g0038 a0001c0001t0005g0037 a0001c0003t0001g0046 others(42): Show a0001c0001t0002g0038 a0001c0001t0005g0037 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0335 a0001c0003t0001g0344 a0001c0003t0002g0010 a0001c0003t0002g0251 a0001c0003t0002g0265 a0001c0003t0002g0339 a0001c0003t0002g0342 a0001c0003t0002g0349 a0001c0003t0002g0351 a0001c0003t0003g0333 a0001c0003t0005g0059 a0001c0003t0007g0008 a0001c0003t0007g0223 a0001c0003t0012g0088 a0001c0003t0012g0123 a0001c0003t0012g0350 a0001c0003t0015g0345 a0001c0003t0022g0124 a0001c0003t0025g0341 a0001c0003t0027g0201 a0001c0003t0046g0343 a0001c0003t0056g0021 a0001c0003t0058g0044 a0001c0003t0060g0156 a0002c0002t0002g0054 a0002c0002t0003g0190 a0002c0002t0003g0306 a0002c0002t0004g0095 a0002c0002t0005g0041 a0002c0002t0005g0338 a0002c0002t0011g0167 a0002c0002t0011g0181 a0002c0002t0013g0182 a0002c0002t0019g0194 a0002c0002t0026g0122 a0002c0002t0030g0036 a0002c0002t0033g0162 a0002c0002t0067g0149 a0003c0004t0002g0219 a0005c0012t0032g0126	45	62	0.7258	10	c.114 others(31): Show c.1142+12076_1142+12085dupAAAAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78905344	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp2 HG01361.hp2 others(13): Show HG00423.hp1 HG01074.hp2 HG01361.hp2 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02135.hp2 HG03098.hp1 HG03139.hp2 HG03942.hp1 NA18948.hp1 NA19011.hp1 NA19077.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0024 a0001c0003t0002 a0001c0003t0006 a0002c0002t0003 a0002c0002t0006	a0001c0001t0001g0083 a0001c0001t0001g0114 a0001c0001t0001g0305 others(13): Show a0001c0001t0001g0083 a0001c0001t0001g0114 a0001c0001t0001g0305 a0001c0001t0002g0005 a0001c0001t0002g0038 a0001c0001t0002g0091 a0001c0001t0004g0018 a0001c0001t0004g0057 a0001c0001t0007g0127 a0001c0001t0008g0198 a0001c0001t0014g0145 a0001c0001t0024g0128 a0001c0003t0002g0320 a0001c0003t0006g0210 a0002c0002t0003g0319 a0002c0002t0006g0137	16	75	0.2133	10	c.899 others(29): Show c.899-19527_899-19518dupAAAAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78972516	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG01891.hp2 others(12): Show HG00642.hp1 HG01884.hp2 HG01891.hp2 HG02129.hp2 HG02145.hp2 HG02280.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG04204.hp1 NA19088.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0001c0018 a0002c0002 a0003c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0003t0007 a0001c0009t0016 a0001c0018t0002 a0002c0002t0001 a0002c0002t0003 a0003c0004t0003 a0003c0004t0029 a0003c0004t0054 a0003c0004t0072	a0001c0001t0003g0231 a0001c0001t0004g0082 a0001c0001t0004g0278 others(12): Show a0001c0001t0003g0231 a0001c0001t0004g0082 a0001c0001t0004g0278 a0001c0001t0010g0232 a0001c0003t0007g0352 a0001c0009t0016g0267 a0001c0009t0016g0268 a0001c0018t0002g0013 a0002c0002t0001g0346 a0002c0002t0003g0336 a0003c0004t0003g0292 a0003c0004t0029g0108 a0003c0004t0029g0109 a0003c0004t0054g0233 a0003c0004t0072g0323	15	112	0.1339	10	c.313 others(27): Show c.313-3334_313-3325dupGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980725	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02615.hp2 others(4): Show HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02965.hp1 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008	a0001c0001t0007 a0001c0003t0008 a0001c0003t0027 others(4): Show a0001c0001t0007 a0001c0003t0008 a0001c0003t0027 a0001c0003t0031 a0001c0003t0073 a0001c0005t0032 a0001c0008t0008	a0001c0001t0007g0202 a0001c0003t0008g0203 a0001c0003t0027g0201 others(4): Show a0001c0001t0007g0202 a0001c0003t0008g0203 a0001c0003t0027g0201 a0001c0003t0031g0206 a0001c0003t0073g0099 a0001c0005t0032g0204 a0001c0008t0008g0205	7	343	0.0204	10	c.312 others(27): Show c.312+4211_312+4212insACACACACAC	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980734	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18994.hp1 NA18968.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0256 a0001c0001t0003g0257	2	204	0.0098	10	c.312 others(27): Show c.312+4193_312+4202dupCACACACACA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980744	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG01496.hp2 others(2): Show HG01168.hp1 HG01255.hp1 HG01496.hp2 HG02717.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0022 a0002c0002 others(1): Show a0001c0001 a0001c0022 a0002c0002 a0004c0006	a0001c0001t0002 a0001c0022t0006 a0002c0002t0013 others(2): Show a0001c0001t0002 a0001c0022t0006 a0002c0002t0013 a0002c0002t0033 a0004c0006t0004	a0001c0001t0002g0261 a0001c0022t0006g0359 a0002c0002t0013g0163 others(2): Show a0001c0001t0002g0261 a0001c0022t0006g0359 a0002c0002t0013g0163 a0002c0002t0033g0162 a0004c0006t0004g0161	5	253	0.0198	10	c.312 others(27): Show c.312+4192_312+4193insTACACACACA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSD_chrX_2898972_2934339	2909080	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(63): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG01243.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02615.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03491.hp1 NA18612.hp1 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18997.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0003c0007 others(3): Show a0002c0002 a0003c0003 a0003c0007 a0003c0014 a0003c0018 a0004c0004	a0002c0002t0002 a0003c0003t0003 a0003c0003t0005 others(13): Show a0002c0002t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0012 a0003c0003t0015 a0003c0003t0023 a0003c0003t0035 a0003c0003t0036 a0003c0003t0040 a0003c0007t0003 a0003c0007t0005 a0003c0014t0005 a0003c0018t0012 a0004c0004t0003 a0004c0004t0005 a0004c0004t0033	a0002c0002t0002g0299 a0002c0002t0002g0300 a0003c0003t0003g0001 others(50): Show a0002c0002t0002g0299 a0002c0002t0002g0300 a0003c0003t0003g0001 a0003c0003t0003g0020 a0003c0003t0003g0228 a0003c0003t0003g0244 a0003c0003t0003g0256 a0003c0003t0003g0257 a0003c0003t0003g0268 a0003c0003t0003g0272 a0003c0003t0003g0275 a0003c0003t0003g0282 a0003c0003t0003g0289 a0003c0003t0003g0293 a0003c0003t0003g0294 a0003c0003t0003g0295 a0003c0003t0003g0301 a0003c0003t0003g0302 a0003c0003t0003g0303 a0003c0003t0003g0304 a0003c0003t0003g0309 a0003c0003t0005g0037 a0003c0003t0005g0043 a0003c0003t0005g0071 a0003c0003t0005g0080 a0003c0003t0005g0104 a0003c0003t0005g0216 a0003c0003t0012g0233 a0003c0003t0015g0038 a0003c0003t0015g0102 a0003c0003t0023g0108 a0003c0003t0035g0039 a0003c0003t0036g0281 a0003c0003t0040g0274 a0003c0007t0003g0232 a0003c0007t0005g0023 a0003c0007t0005g0036 a0003c0007t0005g0147 a0003c0014t0005g0125 a0003c0018t0012g0297 a0004c0004t0003g0261 a0004c0004t0003g0262 a0004c0004t0003g0285 a0004c0004t0003g0286 a0004c0004t0003g0291 a0004c0004t0005g0014 a0004c0004t0005g0086 a0004c0004t0005g0095 a0004c0004t0005g0107 a0004c0004t0005g0128 a0004c0004t0005g0151 a0004c0004t0005g0225 a0004c0004t0033g0152	66	313	0.2109	10	c.129 others(27): Show c.1299-248_1299-239dupTGTGTGTGTG	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	8/9			chrX	TogoVar
ARSF_chrX_3036471_3117727	3036683	A A	ATATAAAA others(3): Show ATATAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	186	0.0054	10	c.-50 others(21): Show c.-5009_-5008insTATAAAATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4787		chrX	TogoVar
ARSF_chrX_3036471_3117727	3037162	T T	TATTATAT others(3): Show TATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0008 a0004c0006t0001g0009 a0004c0006t0001g0008 a0004c0006t0001g0009	2	191	0.0105	10	c.-45 others(21): Show c.-4530_-4529insATTATATATA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4308		chrX	TogoVar
ARSF_chrX_3036471_3117727	3077789	T T	TATTATTA others(3): Show TATTATTATTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0043 a0001c0005t0001g0043	1	36	0.0278	10	c.283 others(27): Show c.283+1120_283+1121insATTATTATTA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	4/10			chrX	TogoVar
ARSF_chrX_3036471_3117727	3098047	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03491.hp1 HG03492.hp1 others(4): Show HG02257.hp1 HG03491.hp1 HG03492.hp1 NA18959.hp1 NA18984.hp1 NA19030.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0012 a0001c0001 a0001c0009 a0001c0012	a0001c0001t0001 a0001c0009t0001 a0001c0012t0001 a0001c0001t0001 a0001c0009t0001 a0001c0012t0001	a0001c0001t0001g0080 a0001c0001t0001g0125 a0001c0001t0001g0140 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0009t0001g0016 a0001c0009t0001g0018 a0001c0012t0001g0089	7	19	0.3684	10	c.968 others(27): Show c.968-3008_968-2999dupCACACACACA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSG_chr17_68286495_68425814	68352157	G G	GAGAGAGA others(3): Show GAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG03098.hp2 others(5): Show HG01109.hp2 HG02647.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp2 NA18522.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0003 a0004c0006 a0004c0021 others(1): Show a0001c0003 a0004c0006 a0004c0021 a0011c0022	a0001c0003t0001 a0004c0006t0001 a0004c0021t0001 others(1): Show a0001c0003t0001 a0004c0006t0001 a0004c0021t0001 a0011c0022t0001	a0001c0003t0001g0121 a0001c0003t0001g0139 a0004c0006t0001g0182 others(5): Show a0001c0003t0001g0121 a0001c0003t0001g0139 a0004c0006t0001g0182 a0004c0006t0001g0201 a0004c0006t0001g0202 a0004c0006t0001g0203 a0004c0021t0001g0066 a0011c0022t0001g0052	8	299	0.0268	10	c.566 others(25): Show c.566+476_566+477insGAGACAGAGA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68393867	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0190 a0003c0004t0002g0190	1	212	0.0047	10	c.109 others(29): Show c.1092-1201_1092-1192dupAAAAAAAAAA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3021881	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG02622.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0001g0143 a0001c0001t0001g0189	2	16	0.1250	10	c.902 others(27): Show c.902-2118_902-2109dupGTGTGTGTGT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	5/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3036683	A A	ATATAAAA others(3): Show ATATAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	241	0.0041	10	c.32 others(21): Show c.3298_*3299insTATAAAATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2573		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036683	A A	ATATATAA others(3): Show ATATATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	241	0.0041	10	c.32 others(21): Show c.3298_*3299insTATATAATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2573		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037162	T T	TATTATAT others(3): Show TATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG01169.hp1 HG00733.hp2 HG01168.hp2 HG01169.hp1	a0001 a0005 a0001 a0005	a0001c0013 a0005c0008 a0001c0013 a0005c0008	a0001c0013t0004 a0005c0008t0004 a0001c0013t0004 a0005c0008t0004	a0001c0013t0004g0190 a0005c0008t0004g0020 a0001c0013t0004g0190 a0005c0008t0004g0020	3	246	0.0122	10	c.37 others(21): Show c.3777_*3778insATTATATATA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		3052		chrX	TogoVar
ARSJ_chr4_113895284_113984647	113921082	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	306	0.0033	10	c.399 others(29): Show c.399-17417_399-17408dupGTGTGTGTGT	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ARSJ_chr4_113895284_113984647	113921117	A A	ACACACAC others(3): Show ACACACACACT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03195.hp2 HG00639.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0154 a0001c0001t0012g0055 a0001c0001t0007g0154 a0001c0001t0012g0055	2	120	0.0167	10	c.399 others(29): Show c.399-17443_399-17442insAGTGTGTGTG	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ART1_chr11_3640128_3669416	3663033	A A	ATCATCTC others(3): Show ATCATCTCATC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG01346.hp2 others(24): Show HG00558.hp2 HG01099.hp1 HG01346.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02135.hp2 HG02738.hp1 HG02970.hp2 HG03490.hp1 NA18747.hp2 NA18962.hp2 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18995.hp1 NA18998.hp2 NA19011.hp2 NA19043.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19077.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0006c0008t0001 a0001c0001t0001 a0002c0002t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0080 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0284 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0213 a0002c0002t0001g0258 a0006c0008t0001g0028	27	347	0.0778	10	c.887 others(27): Show c.887-1023_887-1014dupTCATCTCATC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3663089	A A	ATCATCTC others(3): Show ATCATCTCATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(42): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00642.hp2 HG00673.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp1 HG02683.hp2 HG02738.hp2 HG03490.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 NA18944.hp1 NA18955.hp1 NA18961.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA19001.hp2 NA19005.hp1 NA19006.hp1 NA19012.hp2 NA19081.hp2 NA19087.hp1 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001	a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0077 others(40): Show a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0266 a0002c0002t0001g0025 a0002c0002t0001g0133 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0160 a0002c0002t0001g0171 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0198 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0212 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0239 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0301 a0003c0003t0001g0048 a0004c0005t0001g0289 a0005c0006t0001g0024 a0005c0006t0001g0149	45	224	0.2009	10	c.887 others(25): Show c.887-957_887-948dupTCATCTCATC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART4_chr12_14820569_14848526	14830119	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02717.hp2 others(2): Show HG01168.hp2 HG01169.hp2 HG02717.hp2 HG02886.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0002c0002t0015 a0001c0001t0004 a0002c0002t0004 a0002c0002t0015	a0001c0001t0004g0240 a0001c0001t0004g0308 a0002c0002t0004g0099 others(1): Show a0001c0001t0004g0240 a0001c0001t0004g0308 a0002c0002t0004g0099 a0002c0002t0015g0010	5	165	0.0303	10	c.854 others(25): Show c.854-667_854-658dupACACACACAC	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar

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