Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

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
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18964.hp1 NA18972.hp2 HG00099.hp2 NA18964.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0011g0155 a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0011g0155	3	216	0.0139	18	c.112 others(35): Show c.1120+749_1120+766dupAAAAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448544	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0010 a0005c0005t0001g0010	1	216	0.0046	18	c.112 others(35): Show c.1120+757_1120+758insCAAAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02132.hp1 HG02622.hp2 others(10): Show HG01123.hp1 HG02132.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02895.hp1 HG03130.hp2 HG03239.hp2 HG04115.hp1 NA18962.hp1 NA18990.hp2 NA18995.hp1 NA19063.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0004c0030 others(1): Show a0001c0001 a0004c0004 a0004c0030 a0005c0006	a0001c0001t0001 a0004c0004t0001 a0004c0004t0004 others(2): Show a0001c0001t0001 a0004c0004t0001 a0004c0004t0004 a0004c0030t0004 a0005c0006t0001	a0001c0001t0001g0020 a0001c0001t0001g0183 a0001c0001t0001g0280 others(10): Show a0001c0001t0001g0020 a0001c0001t0001g0183 a0001c0001t0001g0280 a0001c0001t0001g0281 a0004c0004t0001g0054 a0004c0004t0001g0059 a0004c0004t0001g0060 a0004c0004t0001g0062 a0004c0004t0001g0069 a0004c0004t0001g0071 a0004c0004t0004g0067 a0004c0030t0004g0275 a0005c0006t0001g0021	13	336	0.0387	18	c.665 others(37): Show c.6651+1237_6651+1254dupATATATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRG1_chrX_37344364_37462291	37376549	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02109.hp1 HG03139.hp1 others(4): Show HG02083.hp1 HG02109.hp1 HG03139.hp1 HG03516.hp2 NA18612.hp1 NA19081.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0064 others(4): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0005g0067 a0001c0001t0005g0068	7	216	0.0324	18	c.-42 others(37): Show c.-42+27155_-42+27156insATATATATATATATATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG1_chrX_37344364_37462291	37376551	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 NA18994.hp1 others(1): Show HG00558.hp2 HG00642.hp1 NA18994.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0175	4	216	0.0185	18	c.-42 others(37): Show c.-42+27160_-42+27177dupATATATATATATATATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRT1B_chr9_131540523_131564815	131562397	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0044 a0006c0009t0044	a0006c0009t0044g0087 a0006c0009t0044g0087	1	458	0.0022	18	c.41 others(29): Show c.4195_*4196insTTTTTTTTTTTTTTTTTT	PRRT1B	ENSG00000283526.2	transcript	ENST00000636672.2	protein_coding		2583		chr9	TogoVar
PRRT4_chr7_128345325_128366690	128346652	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0006	1	448	0.0022	18	c.42 others(29): Show c.4203_*4204insTATATATAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3672		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128365627	G G	GGAAGGAA others(11): Show GGAAGGAAGGAAGGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0115 a0004c0010t0004g0115	1	448	0.0022	18	c.-42 others(29): Show c.-4257_-4256insTTCTTCCTTCCTTCCTTC	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3938		chr7	TogoVar
PRRX1_chr1_170659131_170744421	170664088	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02135.hp2 HG03579.hp2 others(1): Show HG01884.hp1 HG02135.hp2 HG03579.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0001g0117 a0001c0001t0003g0128 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0117 a0001c0001t0003g0128 a0001c0001t0003g0133	4	356	0.0112	18	c.-13 others(27): Show c.-131_-130insCTCTCTCTCTCTCTCTCT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding		42		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp2 HG01243.hp1 others(14): Show HG00423.hp2 HG01123.hp2 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG02257.hp1 HG02572.hp1 HG02809.hp2 HG02886.hp1 HG03453.hp1 HG03831.hp1 NA18747.hp1 NA18950.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA19004.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0002t0033 a0004c0004t0003	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 others(14): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0002g0125 a0001c0001t0003g0082 a0001c0001t0003g0085 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0138 a0001c0001t0004g0045 a0001c0001t0004g0124 a0001c0001t0009g0109 a0002c0002t0033g0008 a0004c0004t0003g0104	17	356	0.0478	18	c.241 others(35): Show c.241+4978_241+4995dupAAAAAAAAAAAAAAAAAA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX1_chr1_170659131_170744421	170689814	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG02258.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	2	356	0.0056	18	c.241 others(37): Show c.241+25362_241+25379dupTCTCTCTCTCTCTCTCTC	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX2_chr9_129660647_129727674	129666156	G G	GCGGGGCC others(11): Show GCGGGGCCGGGGCCGGGGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	358	0.0028	18	c.259 others(31): Show c.259+43_259+60dupCGGGGCCGGGGCCGGGGC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129673652	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0271 a0001c0001t0008g0271	1	358	0.0028	18	c.259 others(35): Show c.259+7535_259+7552dupCACACACACACACACACA	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129684427	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02602.hp2 HG02738.hp2 others(3): Show HG01070.hp2 HG02602.hp2 HG02738.hp2 HG03927.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0229 a0001c0001t0001g0244 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0229 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0339	6	358	0.0168	18	c.259 others(37): Show c.259+18316_259+18333dupACACACACACACACACAC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129684482	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	358	0.0028	18	c.259 others(37): Show c.259+18380_259+18397dupACACACACACACACACAC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129715750	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02155.hp2 HG02273.hp1 others(7): Show HG00621.hp2 HG02155.hp2 HG02273.hp1 HG03942.hp1 HG04228.hp1 NA18940.hp2 NA18950.hp2 NA19011.hp1 NA19080.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0129 a0001c0001t0002g0332 a0001c0001t0003g0162 others(7): Show a0001c0001t0002g0129 a0001c0001t0002g0332 a0001c0001t0003g0162 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0250 a0001c0001t0006g0202	10	358	0.0279	18	c.260 others(35): Show c.260-3480_260-3479insTCTCTCTCTCTCTCACAC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129715750	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19081.hp1 NA19081.hp2 NA18986.hp2 NA19081.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0056 a0001c0001t0003g0324 a0001c0001t0007g0204 a0001c0001t0002g0056 a0001c0001t0003g0324 a0001c0001t0007g0204	3	358	0.0084	18	c.260 others(35): Show c.260-3480_260-3479insTCTCTCTCTCTCTCTCAC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129723228	G G	GGACAGTG others(11): Show GGACAGTGGTGTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp2 others(132): Show HG00099.hp1 HG00408.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18950.hp2 NA18951.hp1 NA18962.hp1 NA18974.hp1 NA18977.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19065.hp1 NA19068.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 others(132): Show a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0335 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0188 a0001c0001t0002g0220 a0001c0001t0002g0234 a0001c0001t0002g0247 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0302 a0001c0001t0002g0309 a0001c0001t0002g0316 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0340 a0001c0001t0003g0007 a0001c0001t0003g0041 a0001c0001t0003g0162 a0001c0001t0003g0208 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0250 a0001c0001t0003g0263 a0001c0001t0003g0324 a0001c0001t0004g0019 a0001c0001t0004g0211 a0001c0001t0004g0268 a0001c0001t0004g0275 a0001c0001t0004g0341 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0062 a0001c0001t0005g0065 a0001c0001t0005g0209 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0306 a0001c0001t0006g0042 a0001c0001t0006g0198 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0206 a0001c0001t0006g0224 a0001c0001t0006g0298 a0001c0001t0007g0204 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0351 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0009g0287 a0001c0001t0009g0289 a0001c0001t0009g0290 a0001c0001t0010g0346 a0001c0001t0010g0347 a0001c0001t0010g0348 a0001c0001t0011g0028 a0001c0001t0011g0310 a0001c0001t0012g0170 a0001c0001t0015g0027 a0001c0001t0016g0163 a0001c0001t0018g0308 a0001c0001t0020g0305 a0001c0001t0022g0337	135	358	0.3771	18	c.87 others(27): Show c.876_*877insGACAGTGGTGTGCTCCGT	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding		555		chr9	TogoVar
PRRX2_chr9_129660647_129727674	129723687	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	358	0.0028	18	c.13 others(29): Show c.1335_*1336insTCTTTCTTTCTTTCTTTC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding		1014		chr9	TogoVar
PRSS12_chr4_118275038_118358003	118311062	T T	TAATTAAT others(11): Show TAATTAATTAATTAAATTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0288 a0001c0006t0001g0288	1	364	0.0028	18	c.148 others(37): Show c.1489+2121_1489+2138dupTAATTTAATTAATTAATT	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	7/12			chr4	TogoVar
PRSS33_chr16_2778953_2792560	2786878	C C	CCATCCTC others(11): Show CCATCCTCACCCCCTCCCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	386	0.0026	18	c.-57 others(33): Show c.-57-292_-57-275dupAGGGAGGGGGTGAGGATG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS41_chr16_2793470_2810304	2795137	T T	TATATATA others(11): Show TATATATATACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG03471.hp1 NA18955.hp1 others(1): Show HG02155.hp1 HG03471.hp1 NA18955.hp1 NA18980.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0004t0001g0027 a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0004t0001g0027	4	426	0.0094	18	c.-33 others(29): Show c.-3348_-3347insATATATATACATATATAC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding		3332		chr16	TogoVar
PRSS41_chr16_2793470_2810304	2802860	G G	GGGGAGAG others(11): Show GGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01346.hp1 others(18): Show HG00544.hp1 HG00609.hp2 HG01346.hp1 HG01993.hp2 HG02293.hp2 NA18612.hp1 NA18950.hp1 NA18952.hp1 NA18965.hp1 NA18966.hp2 NA18981.hp2 NA18986.hp1 NA18990.hp2 NA19003.hp1 NA19009.hp2 NA19011.hp2 NA19067.hp1 NA19068.hp2 NA19077.hp2 NA19087.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0030 a0002c0002t0001g0031 others(1): Show a0002c0002t0001g0004 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033	21	426	0.0493	18	c.542 others(35): Show c.542-1512_542-1495dupGAGGGAGAGGGAGAGGGA	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRSS48_chr4_151272161_151296862	151286982	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0129 a0000c0002t0001g0129	1	428	0.0023	18	c.651 others(35): Show c.651+3707_651+3724dupATAATAATAATAATAATA	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRSS55_chr8_10520532_10543819	10525324	A A	AACATGAA others(11): Show AACATGAAAATGGACTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(287): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0019 a0021	a0001c0001 a0001c0012 a0001c0021 others(22): Show a0001c0001 a0001c0012 a0001c0021 a0002c0002 a0002c0004 a0002c0019 a0003c0003 a0003c0013 a0003c0023 a0004c0011 a0005c0005 a0005c0010 a0006c0007 a0006c0024 a0008c0014 a0010c0018 a0011c0020 a0012c0016 a0013c0015 a0015c0032 a0016c0027 a0017c0028 a0018c0031 a0019c0029 a0021c0022	a0001c0001t0001 a0001c0012t0001 a0001c0021t0001 others(22): Show a0001c0001t0001 a0001c0012t0001 a0001c0021t0001 a0002c0002t0001 a0002c0004t0001 a0002c0019t0001 a0003c0003t0001 a0003c0013t0001 a0003c0023t0001 a0004c0011t0001 a0005c0005t0001 a0005c0010t0001 a0006c0007t0001 a0006c0024t0001 a0008c0014t0001 a0010c0018t0001 a0011c0020t0001 a0012c0016t0001 a0013c0015t0001 a0015c0032t0001 a0016c0027t0001 a0017c0028t0001 a0018c0031t0001 a0019c0029t0001 a0021c0022t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(110): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0012t0001g0003 a0001c0021t0001g0044 a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0058 a0002c0002t0001g0068 a0002c0002t0001g0128 a0002c0004t0001g0002 a0002c0004t0001g0015 a0002c0004t0001g0022 a0002c0004t0001g0027 a0002c0004t0001g0031 a0002c0004t0001g0037 a0002c0004t0001g0042 a0002c0004t0001g0043 a0002c0004t0001g0062 a0002c0004t0001g0087 a0002c0004t0001g0088 a0002c0004t0001g0123 a0002c0004t0001g0127 a0002c0004t0001g0149 a0002c0019t0001g0022 a0003c0003t0001g0002 a0003c0003t0001g0004 a0003c0003t0001g0016 a0003c0003t0001g0019 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0042 a0003c0003t0001g0061 a0003c0003t0001g0089 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0105 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0013t0001g0013 a0003c0013t0001g0163 a0003c0023t0001g0019 a0004c0011t0001g0017 a0005c0005t0001g0002 a0005c0005t0001g0024 a0005c0005t0001g0052 a0005c0005t0001g0153 a0005c0010t0001g0160 a0006c0007t0001g0003 a0006c0007t0001g0008 a0006c0007t0001g0094 a0006c0007t0001g0095 a0006c0007t0001g0115 a0006c0024t0001g0110 a0008c0014t0001g0054 a0010c0018t0001g0010 a0010c0018t0001g0121 a0011c0020t0001g0039 a0012c0016t0001g0002 a0013c0015t0001g0017 a0013c0015t0001g0122 a0015c0032t0001g0003 a0016c0027t0001g0106 a0017c0028t0001g0028 a0018c0031t0001g0005 a0019c0029t0001g0116 a0021c0022t0001g0117	290	480	0.6042	18	c.-26 others(27): Show c.-262_-261insACATGAAAATGGACTAAT	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		207		chr8	TogoVar
PRSS55_chr8_10520532_10543819	10543481	T T	TTTTCTTT others(11): Show TTTTCTTTTCTTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG03139.hp1 HG02109.hp1 HG02145.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0114 a0002c0004t0001g0090 a0002c0004t0001g0162 a0001c0001t0001g0114 a0002c0004t0001g0090 a0002c0004t0001g0162	3	480	0.0063	18	c.46 others(29): Show c.4688_*4689insTTTCTTTTCTTTTCTTTC	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		4663		chr8	TogoVar
PRSS57_chr19_680546_700452	688602	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0126 a0001c0005t0001g0126	1	442	0.0023	18	c.379 others(35): Show c.379-1415_379-1414insAAAAAAAAAAAAAAAAAA	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4			chr19	TogoVar
PRTG_chr15_55606544_55748152	55635071	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG03490.hp1 others(2): Show HG02572.hp1 HG02818.hp2 HG03490.hp1 HG03492.hp2 NA18985.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0036 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0036 a0006c0011t0036	a0001c0001t0001g0200 a0001c0001t0004g0281 a0001c0001t0004g0282 others(2): Show a0001c0001t0001g0200 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0036g0218 a0006c0011t0036g0220	5	284	0.0176	18	c.262 others(37): Show c.2623+2098_2623+2099insCACACACACACACACACA	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	15/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55738071	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04115.hp1 NA19003.hp1 others(2): Show HG03688.hp2 HG04115.hp1 NA19003.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0043 a0001c0001t0002 a0001c0001t0004 a0001c0001t0043	a0001c0001t0002g0245 a0001c0001t0002g0261 a0001c0001t0004g0258 others(2): Show a0001c0001t0002g0245 a0001c0001t0002g0261 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0043g0260	5	284	0.0176	18	c.397 others(35): Show c.397+2293_397+2310dupATATATATATATATATAT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	2/19			chr15	TogoVar
PRTN3_chr19_835999_853175	836288	C C	CAGAGAGA others(11): Show CAGAGAGAGACAAAGACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(277): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(231): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0307 a0001c0001t0001g0319 a0001c0001t0001g0337 a0001c0001t0002g0027 a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0003g0262 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0255 a0001c0001t0004g0284 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0218 a0002c0002t0001g0230 a0002c0002t0002g0048 a0002c0002t0002g0063 a0002c0002t0002g0123 a0002c0002t0002g0169 a0002c0002t0005g0072 a0002c0002t0005g0073 a0002c0002t0005g0289 a0003c0003t0001g0038 a0003c0003t0001g0042	280	415	0.6747	18	c.-47 others(29): Show c.-4721_-4720insAGAGAGAGACAAAGACAG	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding		4710		chr19	TogoVar
PRTN3_chr19_835999_853175	836296	G G	GACAAAGA others(11): Show GACAAAGACAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02300.hp2 HG03834.hp1 others(1): Show HG00673.hp2 HG02300.hp2 HG03834.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0310 a0001c0001t0001g0311 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0310 a0001c0001t0001g0311 a0002c0002t0001g0134	4	415	0.0096	18	c.-47 others(29): Show c.-4713_-4712insACAAAGACAGAGAGAGAA	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding		4702		chr19	TogoVar
PRUNE1_chr1_151003449_151040713	151008423	G G	GGCGGGGC others(11): Show GGCGGGGCGACGCCGGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	408	0.0025	18	c.-21 others(27): Show c.-210_-209insGCGGGGCGACGCCGGACT	PRUNE1	ENSG00000143363.17	transcript	ENST00000271620.8	protein_coding		25		chr1	TogoVar
PRUNE2_chr9_76606376_76911114	76634477	C C	CAGCCAAT others(11): Show CAGCCAATCAAAGCAGCTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp2 HG01255.hp2 others(7): Show HG01106.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp1 HG01934.hp1 HG01952.hp2 HG02273.hp1 HG03704.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0040	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0040c0056	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0040c0056t0001	a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0058 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0216 a0002c0002t0001g0115 a0003c0003t0001g0128 a0003c0003t0001g0218 a0040c0056t0001g0150	10	240	0.0417	18	c.905 others(37): Show c.9050+1976_9050+1993dupCAGCTGCTTTGATTGGCT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	15/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76837441	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp2 HG01258.hp2 others(6): Show HG00408.hp2 HG01256.hp2 HG01258.hp2 HG02698.hp2 HG02809.hp2 NA18942.hp2 NA19003.hp2 NA19004.hp1 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0017	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0003c0015 a0004c0004 a0005c0005 a0017c0016	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0015t0004 a0004c0004t0002 a0005c0005t0002 a0017c0016t0012	a0001c0001t0001g0095 a0002c0002t0001g0090 a0002c0002t0001g0194 others(6): Show a0001c0001t0001g0095 a0002c0002t0001g0090 a0002c0002t0001g0194 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0015t0004g0177 a0004c0004t0002g0193 a0005c0005t0002g0089 a0017c0016t0012g0001	9	240	0.0375	18	c.508 others(35): Show c.508+9056_508+9073dupATTATTATTATTATTATT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	4/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01070.hp1 others(30): Show HG00544.hp2 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01993.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02486.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18962.hp1 NA18965.hp1 NA18992.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0029 a0001c0001t0032 a0001c0001t0043 a0001c0001t0050	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0003g0017 a0001c0001t0004g0003 a0001c0001t0004g0045 a0001c0001t0004g0050 a0001c0001t0005g0044 a0001c0001t0005g0169 a0001c0001t0007g0140 a0001c0001t0008g0087 a0001c0001t0009g0010 a0001c0001t0009g0020 a0001c0001t0009g0174 a0001c0001t0013g0003 a0001c0001t0015g0118 a0001c0001t0019g0086 a0001c0001t0029g0100 a0001c0001t0032g0019 a0001c0001t0043g0112 a0001c0001t0050g0166	33	300	0.1100	18	c.-18 others(29): Show c.-1889_-1888insATATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PRX_chr19_40388768_40418378	40400592	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	306	0.0033	18	c.185 others(35): Show c.185-1794_185-1777dupTTTTTTTTTTTTTTTTTT	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding	5/6			chr19	TogoVar
PRX_chr19_40388768_40418378	40407212	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02109.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0253 a0002c0002t0001g0260 a0002c0002t0001g0253 a0002c0002t0001g0260	2	306	0.0065	18	c.27+ others(31): Show c.27+676_27+693dupCACACACACACACACACA	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding	4/6			chr19	TogoVar
PSAP_chr10_71811298_71856251	71853204	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0098 a0002c0002t0004g0098	1	430	0.0023	18	c.-19 others(29): Show c.-1984_-1983insTTTTTTTTTTTTTTTTTT	PSAP	ENSG00000197746.15	transcript	ENST00000394936.8	protein_coding		1954		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18989.hp2 NA19000.hp1 others(1): Show HG02071.hp1 NA18989.hp2 NA19000.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0283 a0001c0001t0001g0311 a0001c0001t0001g0319 others(1): Show a0001c0001t0001g0283 a0001c0001t0001g0311 a0001c0001t0001g0319 a0001c0002t0001g0204	4	416	0.0096	18	c.870 others(35): Show c.870-1095_870-1094insATATTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD2_chr5_139790808_139849466	139830608	C C	CTCTTTCT others(11): Show CTCTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02965.hp2 HG01243.hp2 HG02559.hp1 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0109 a0002c0003t0005g0110 a0002c0003t0005g0111 a0002c0003t0005g0109 a0002c0003t0005g0110 a0002c0003t0005g0111	3	276	0.0109	18	c.127 others(37): Show c.1270-3079_1270-3078insCTTTCTTTCTTTCTTTCT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18560175	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0039 a0002c0005t0039	a0002c0005t0039g0117 a0002c0005t0039g0117	1	228	0.0044	18	c.278 others(37): Show c.2785-3841_2785-3824dupGTGTGTGTGTGTGTGTGT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	14/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18562891	T T	TAAAGAAA others(11): Show TAAAGAAAAAGAAAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0130 a0001c0001t0021g0130	1	228	0.0044	18	c.278 others(37): Show c.2785-6557_2785-6540dupTTCTTTTTCTTTTTCTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	14/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18743959	T T	TCACCACC others(11): Show TCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp1 NA20300.hp2 HG03209.hp2 HG03516.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0026 a0001c0001t0028 a0002c0007t0002 a0001c0001t0026 a0001c0001t0028 a0002c0007t0002	a0001c0001t0026g0148 a0001c0001t0028g0040 a0002c0007t0002g0170 a0001c0001t0026g0148 a0001c0001t0028g0040 a0002c0007t0002g0170	3	228	0.0132	18	c.217 others(39): Show c.2172+21472_2172+21489dupGTGGTGGTGGTGGTGGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759092	A A	ACACACAC others(11): Show ACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	228	0.0044	18	c.217 others(37): Show c.2172+6356_2172+6357insAGAGAGTGTGTGTGTGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18803389	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG02300.hp1 others(7): Show HG00140.hp2 HG01099.hp2 HG02300.hp1 NA18906.hp1 NA18959.hp1 NA18959.hp2 NA18970.hp2 NA18989.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007 a0002c0015 a0003c0004 a0003c0008 a0004c0006	a0001c0001t0006 a0001c0001t0065 a0001c0002t0019 others(7): Show a0001c0001t0006 a0001c0001t0065 a0001c0002t0019 a0002c0003t0001 a0002c0003t0013 a0002c0007t0002 a0002c0015t0001 a0003c0004t0051 a0003c0008t0007 a0004c0006t0001	a0001c0001t0006g0197 a0001c0001t0065g0017 a0001c0002t0019g0199 others(7): Show a0001c0001t0006g0197 a0001c0001t0065g0017 a0001c0002t0019g0199 a0002c0003t0001g0087 a0002c0003t0013g0141 a0002c0007t0002g0170 a0002c0015t0001g0014 a0003c0004t0051g0023 a0003c0008t0007g0122 a0004c0006t0001g0041	10	228	0.0439	18	c.191 others(37): Show c.1910+1115_1910+1132dupCACACACACACACACACA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	6/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18821684	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG02523.hp2 others(6): Show HG00738.hp2 HG01884.hp1 HG02523.hp2 HG03490.hp1 HG03942.hp2 HG04204.hp2 NA18965.hp1 NA18999.hp2 NA19001.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0016 a0002c0003 others(1): Show a0001c0001 a0001c0016 a0002c0003 a0002c0005	a0001c0001t0003 a0001c0001t0047 a0001c0016t0001 others(5): Show a0001c0001t0003 a0001c0001t0047 a0001c0016t0001 a0002c0003t0009 a0002c0003t0018 a0002c0003t0044 a0002c0003t0084 a0002c0005t0001	a0001c0001t0003g0151 a0001c0001t0047g0090 a0001c0016t0001g0069 others(6): Show a0001c0001t0003g0151 a0001c0001t0047g0090 a0001c0016t0001g0069 a0002c0003t0009g0018 a0002c0003t0009g0106 a0002c0003t0018g0204 a0002c0003t0044g0119 a0002c0003t0084g0228 a0002c0005t0001g0084	9	228	0.0395	18	c.163 others(39): Show c.1635-16804_1635-16787dupGTGTGTGTGTGTGTGTGT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0209 a0001c0001t0014g0209	1	228	0.0044	18	c.22- others(35): Show c.22-13120_22-13103dupATATATATATATATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73202462	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	378	0.0027	18	c.869 others(35): Show c.869-3923_869-3922insATATATATATATATTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73212088	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	378	0.0027	18	c.112 others(35): Show c.1129+170_1129+187dupTTTTTTTTTTTTTTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG1_chr19_42861464_42884713	42878406	A A	AACACACA others(11): Show AACACACACACATACAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02559.hp1 others(1): Show HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp2	a0007 a0016 a0007 a0016	a0007c0008 a0016c0020 a0007c0008 a0016c0020	a0007c0008t0005 a0016c0020t0001 a0007c0008t0005 a0016c0020t0001	a0007c0008t0005g0030 a0007c0008t0005g0059 a0016c0020t0001g0066 a0007c0008t0005g0030 a0007c0008t0005g0059 a0016c0020t0001g0066	4	408	0.0098	18	c.65- others(31): Show c.65-129_65-128insGTTTGTATGTGTGTGTGT	PSG1	ENSG00000231924.10	transcript	ENST00000436291.7	protein_coding	1/5			chr19	TogoVar

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