Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PEBP4_chr8_22708251_22932914	22749805	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02818.hp1 HG04184.hp2 others(1): Show HG01192.hp2 HG02818.hp1 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0002 a0003c0004t0004 a0001c0001t0001 a0002c0002t0002 a0003c0004t0004	a0001c0001t0001g0063 a0002c0002t0002g0234 a0002c0002t0002g0242 others(1): Show a0001c0001t0001g0063 a0002c0002t0002g0234 a0002c0002t0002g0242 a0003c0004t0004g0217	4	278	0.0144	21	c.358 others(40): Show c.358-22586_358-22585insAAAAAAAAAAAAAAAAAAAAA		PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6						chr8	TogoVar
PEG3_chr19_56805082_56845726	56814215	A A	AGCAGCCT others(14): Show AGCAGCCTCCACTTCTGGCTCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03688.hp2 HG04115.hp1 HG03688.hp2 HG04115.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0005 a0015c0019t0005	a0015c0019t0005g0055 a0015c0019t0005g0055	2	416	0.0048	21	c.420 others(30): Show c.4206_4226dupCGAGCCAGAAGTGGAGGCTGC	p.Ala others(36): Show p.Ala1409_Glu1410insGluProGluValGluAlaAla	PEG3	ENSG00000198300.14	transcript	ENST00000326441.15	protein_coding	10/10	4620/8754	4226/4767	1409/1588			chr19	TogoVar
PELP1_chr17_4664774_4709137	4694497	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02886.hp2 others(5): Show HG02257.hp1 HG02630.hp2 HG02886.hp2 HG03209.hp1 HG03471.hp1 HG03579.hp2 HG03654.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0005 a0001c0002t0006 a0001c0015t0001 a0001c0002t0005 a0001c0002t0006 a0001c0015t0001	a0001c0002t0005g0230 a0001c0002t0006g0005 a0001c0002t0006g0224 others(3): Show a0001c0002t0005g0230 a0001c0002t0006g0005 a0001c0002t0006g0224 a0001c0002t0006g0227 a0001c0015t0001g0222 a0001c0015t0001g0223	8	316	0.0253	21	c.250 others(38): Show c.250-3056_250-3055insTTTTTTTTTTTTTTTTTTTTT		PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	1/16						chr17	TogoVar
PEPD_chr19_33381950_33526791	33431992	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01192.hp2 others(19): Show HG00323.hp1 HG00544.hp1 HG01192.hp2 HG01243.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG03831.hp1 HG06807.hp1 NA18945.hp1 NA18954.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18990.hp1 NA19010.hp1 NA19012.hp1 NA19065.hp2 NA20752.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0010c0011	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0010c0011t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 others(19): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0181 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0074 a0001c0003t0001g0093 a0001c0003t0001g0103 a0001c0003t0001g0114 a0001c0003t0001g0124 a0001c0003t0001g0127 a0001c0003t0001g0128 a0002c0002t0002g0090 a0002c0002t0002g0094 a0002c0002t0002g0111 a0010c0011t0001g0086	22	314	0.0701	21	c.672 others(40): Show c.672-18350_672-18349insTTTTTTTTTTTTTTTTTTTTT		PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14						chr19	TogoVar
PEPD_chr19_33381950_33526791	33432010	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0171 a0002c0002t0005g0171	1	314	0.0032	21	c.672 others(40): Show c.672-18368_672-18367insCTTTTTTTTTTTTTTTTTTTT		PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14						chr19	TogoVar
PEPD_chr19_33381950_33526791	33485491	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	314	0.0032	21	c.503 others(38): Show c.503+4504_503+4505insTTTTTTTTTTTTTTTTTTTTT		PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	6/14						chr19	TogoVar
PER3_chr1_7779291_7850177	7806810	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	410	0.0024	21	c.113 others(40): Show c.1137-2083_1137-2082insTATATATATATATATATATAT		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21						chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02135.hp1 NA18956.hp2 others(3): Show HG01981.hp2 HG02135.hp1 NA18956.hp2 NA18963.hp1 NA19070.hp1 NA19076.hp2	a0001 a0022 a0001 a0022	a0001c0003 a0022c0030 a0001c0003 a0022c0030	a0001c0003t0001 a0001c0003t0004 a0022c0030t0001 a0001c0003t0001 a0001c0003t0004 a0022c0030t0001	a0001c0003t0001g0095 a0001c0003t0001g0109 a0001c0003t0001g0110 others(3): Show a0001c0003t0001g0095 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0121 a0001c0003t0004g0100 a0022c0030t0001g0145	6	410	0.0146	21	c.113 others(40): Show c.1137-2080_1137-2079insAAAAAAAAAAAAATATATATA		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp2 HG01192.hp2 others(7): Show HG00621.hp1 HG01099.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG02148.hp1 HG03654.hp2 NA18951.hp2 NA18984.hp2 NA18997.hp1	a0001 a0019 a0001 a0019	a0001c0003 a0019c0031 a0001c0003 a0019c0031	a0001c0003t0001 a0001c0003t0004 a0001c0003t0016 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0016 a0019c0031t0001	a0001c0003t0001g0062 a0001c0003t0001g0129 a0001c0003t0001g0130 others(7): Show a0001c0003t0001g0062 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0004g0102 a0001c0003t0004g0108 a0001c0003t0004g0149 a0001c0003t0016g0115 a0019c0031t0001g0097	10	410	0.0244	21	c.113 others(40): Show c.1137-2080_1137-2079insAAAAAAAAAAATATATATATA		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0125 a0006c0010t0001g0125	1	410	0.0024	21	c.152 others(40): Show c.1523-3288_1523-3268dupAAAAAAAAAAAAAAAAAAAAA		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(14): Show CTTTATTTATTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0116 a0001c0001t0013g0116	1	408	0.0025	21	c.-26 others(32): Show c.-2692_-2691insAGAAAGAAAGAAATAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(14): Show CTTTATTTCTTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18987.hp1 NA19011.hp2 others(2): Show NA18947.hp2 NA18987.hp1 NA19011.hp2 NA19075.hp2 NA19078.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0030 a0002c0002 a0008c0030	a0002c0002t0002 a0008c0030t0002 a0002c0002t0002 a0008c0030t0002	a0002c0002t0002g0020 a0002c0002t0002g0257 a0008c0030t0002g0260 a0002c0002t0002g0020 a0002c0002t0002g0257 a0008c0030t0002g0260	5	408	0.0123	21	c.-26 others(32): Show c.-2692_-2691insATAAATAAATAAAGAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(14): Show CTTTATTTCTTTCTTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03942.hp2 HG02055.hp2 HG03942.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0043 a0002c0002 a0015c0043	a0002c0002t0002 a0015c0043t0002 a0002c0002t0002 a0015c0043t0002	a0002c0002t0002g0048 a0015c0043t0002g0266 a0002c0002t0002g0048 a0015c0043t0002g0266	2	408	0.0049	21	c.-26 others(32): Show c.-2692_-2691insATAAATAAAGAAAGAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(14): Show CTTTATTTCTTTCTTTCTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01978.hp1 HG02083.hp2 others(5): Show HG01928.hp1 HG01978.hp1 HG02083.hp2 HG02148.hp1 HG02738.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0004 a0002c0002t0002 a0003c0003t0004	a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0019 others(3): Show a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0019 a0002c0002t0002g0049 a0002c0002t0002g0254 a0003c0003t0004g0023	8	408	0.0196	21	c.-26 others(32): Show c.-2692_-2691insATAAAGAAAGAAAGAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(14): Show CTTTATTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00609.hp2 others(25): Show HG00280.hp2 HG00408.hp1 HG00609.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02293.hp2 HG02683.hp2 HG02976.hp1 HG03195.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18961.hp2 NA18967.hp1 NA18983.hp1 NA19075.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0019 a0022 a0025	a0001c0001 a0001c0007 a0002c0002 others(4): Show a0001c0001 a0001c0007 a0002c0002 a0006c0009 a0019c0019 a0022c0042 a0025c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0007t0001 a0002c0002t0002 a0006c0009t0001 a0019c0019t0001 a0022c0042t0001 a0025c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0105 a0001c0001t0001g0136 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0105 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0003g0001 a0001c0001t0006g0043 a0001c0001t0006g0208 a0001c0001t0011g0111 a0001c0007t0001g0005 a0002c0002t0002g0007 a0002c0002t0002g0019 a0002c0002t0002g0243 a0002c0002t0002g0251 a0006c0009t0001g0089 a0019c0019t0001g0083 a0022c0042t0001g0204 a0025c0018t0001g0082	28	408	0.0686	21	c.-26 others(32): Show c.-2692_-2691insAGAAAGAAAGAAAGAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 NA19003.hp1 NA19010.hp2 HG01928.hp2 NA19003.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0001t0001 a0001c0001t0003 a0001c0007t0001	a0001c0001t0001g0129 a0001c0001t0003g0119 a0001c0007t0001g0005 a0001c0001t0001g0129 a0001c0001t0003g0119 a0001c0007t0001g0005	3	408	0.0074	21	c.-26 others(32): Show c.-2692_-2691insAGAAAGAAAGAAAGAAAGAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PEX12_chr17_35569795_35583571	35581367	T T	TATAATAT others(14): Show TATAATATATATACAAATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	21	c.-33 others(32): Show c.-3347_-3346insTTATATTTGTATATATATTAT		PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding					2797		chr17	TogoVar
PEX14_chr1_10469950_10635758	10577556	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	258	0.0039	21	c.170 others(40): Show c.170-21681_170-21680insTTTTTTTTTTTTTTTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX5L_chr3_179789958_180041937	180011270	A A	AGTTCCTT others(14): Show AGTTCCTTCATATCTTTTTGTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0180 a0002c0002t0032g0180	1	220	0.0046	21	c.21+ others(38): Show c.21+25288_21+25308dupAACAAAAAGATATGAAGGAAC		PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14						chr3	TogoVar
PEX5_chr12_7184686_7216459	7196999	A A	ATTATATA others(14): Show ATTATATATGTCACATATAATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	428	0.0023	21	c.449 others(38): Show c.449-2011_449-2010insTATATATGTCACATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197144	A A	ATTATATA others(14): Show ATTATATATGTCATATATAATG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01516.hp2 others(11): Show HG01070.hp1 HG01081.hp1 HG01516.hp2 HG02615.hp1 HG02735.hp2 HG04199.hp2 NA18747.hp1 NA18969.hp2 NA18979.hp2 NA19001.hp2 NA19066.hp1 NA19079.hp1 NA19083.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0001t0002g0167 others(7): Show a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0240 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0006g0057 a0001c0001t0006g0061	14	428	0.0327	21	c.449 others(38): Show c.449-1866_449-1865insTATATATGTCATATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197232	T T	TGTAATAA others(14): Show TGTAATAATTATGTCATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG01884.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	2	428	0.0047	21	c.449 others(38): Show c.449-1779_449-1778insGTAATAATTATGTCATATATA		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15						chr12	TogoVar
PEX5_chr12_7184686_7216459	7197316	T T	TTATATAT others(14): Show TTATATATGTCATAATGTAATC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	428	0.0023	21	c.449 others(38): Show c.449-1695_449-1694insTATATATGTCATAATGTAATC		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15						chr12	TogoVar
PFKL_chr21_44295053_44332373	44301169	A A	AGAAGGAA others(14): Show AGAAGGAAGCCGGCCTTGAGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	392	0.0026	21	c.85+ others(35): Show c.85+981_85+1001dupAAGGAAGCCGGCCTTGAGTGG		PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKP_chr10_3062548_3141802	3113654	A A	ATGACTAC others(14): Show ATGACTACTTATTTAAGGCAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(246): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0008 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(31): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0012 a0001c0019 a0001c0020 a0001c0022 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0032 a0001c0033 a0001c0038 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0053 a0001c0054 a0001c0056 a0001c0059 a0001c0066 a0001c0067 a0001c0068 a0001c0070 a0003c0030 a0004c0052 a0007c0043 a0008c0055 a0011c0035 a0013c0071	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(51): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0010 a0001c0006t0001 a0001c0006t0007 a0001c0006t0012 a0001c0006t0013 a0001c0006t0021 a0001c0008t0001 a0001c0008t0005 a0001c0012t0002 a0001c0012t0004 a0001c0019t0003 a0001c0019t0004 a0001c0020t0001 a0001c0020t0013 a0001c0022t0001 a0001c0026t0001 a0001c0027t0005 a0001c0028t0007 a0001c0029t0001 a0001c0032t0004 a0001c0033t0003 a0001c0038t0002 a0001c0044t0002 a0001c0045t0009 a0001c0046t0003 a0001c0047t0003 a0001c0053t0006 a0001c0054t0001 a0001c0056t0005 a0001c0059t0010 a0001c0066t0002 a0001c0067t0001 a0001c0068t0007 a0001c0070t0006 a0003c0030t0003 a0004c0052t0004 a0007c0043t0002 a0008c0055t0003 a0011c0035t0004 a0013c0071t0003	a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0036 others(246): Show a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0052 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0002g0191 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0225 a0001c0001t0002g0251 a0001c0001t0002g0266 a0001c0001t0002g0298 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0348 a0001c0001t0002g0363 a0001c0001t0002g0381 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0018 a0001c0001t0003g0034 a0001c0001t0003g0055 a0001c0001t0003g0070 a0001c0001t0003g0131 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0277 a0001c0001t0003g0286 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0323 a0001c0001t0003g0341 a0001c0001t0003g0352 a0001c0001t0003g0380 a0001c0001t0003g0382 a0001c0001t0003g0383 a0001c0001t0003g0384 a0001c0001t0003g0392 a0001c0001t0003g0394 a0001c0001t0004g0017 a0001c0001t0004g0045 a0001c0001t0004g0256 a0001c0001t0004g0274 a0001c0001t0004g0329 a0001c0001t0004g0369 a0001c0001t0004g0385 a0001c0001t0006g0024 a0001c0001t0006g0089 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0223 a0001c0001t0006g0279 a0001c0001t0006g0312 a0001c0001t0008g0146 a0001c0001t0008g0208 a0001c0001t0008g0300 a0001c0001t0008g0343 a0001c0002t0001g0009 a0001c0002t0001g0021 a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0106 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0123 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0145 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0169 a0001c0002t0001g0183 a0001c0002t0001g0198 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0255 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0268 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0284 a0001c0002t0001g0297 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0313 a0001c0002t0001g0316 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0376 a0001c0002t0007g0103 a0001c0002t0007g0149 a0001c0002t0007g0157 a0001c0002t0009g0190 a0001c0002t0012g0051 a0001c0002t0012g0263 a0001c0002t0012g0287 a0001c0002t0014g0020 a0001c0002t0014g0228 a0001c0003t0002g0029 a0001c0003t0002g0040 a0001c0003t0002g0044 a0001c0003t0002g0047 a0001c0003t0002g0056 a0001c0003t0002g0059 a0001c0003t0002g0068 a0001c0003t0002g0076 a0001c0003t0002g0094 a0001c0003t0002g0101 a0001c0003t0002g0104 a0001c0003t0002g0112 a0001c0003t0002g0129 a0001c0003t0002g0133 a0001c0003t0002g0138 a0001c0003t0002g0148 a0001c0003t0002g0154 a0001c0003t0002g0182 a0001c0003t0002g0185 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0210 a0001c0003t0002g0246 a0001c0003t0002g0289 a0001c0003t0002g0290 a0001c0003t0002g0309 a0001c0003t0002g0336 a0001c0003t0002g0345 a0001c0003t0002g0347 a0001c0003t0002g0349 a0001c0003t0002g0374 a0001c0003t0002g0377 a0001c0003t0002g0378 a0001c0003t0003g0078 a0001c0003t0003g0108 a0001c0003t0003g0140 a0001c0003t0003g0155 a0001c0003t0003g0314 a0001c0003t0004g0025 a0001c0003t0004g0102 a0001c0003t0004g0130 a0001c0003t0004g0184 a0001c0003t0004g0283 a0001c0003t0004g0311 a0001c0003t0004g0318 a0001c0003t0004g0344 a0001c0003t0006g0128 a0001c0003t0006g0189 a0001c0003t0006g0227 a0001c0003t0006g0229 a0001c0003t0006g0271 a0001c0003t0006g0351 a0001c0003t0010g0023 a0001c0006t0001g0008 a0001c0006t0001g0035 a0001c0006t0001g0048 a0001c0006t0001g0065 a0001c0006t0001g0095 a0001c0006t0001g0107 a0001c0006t0001g0115 a0001c0006t0001g0121 a0001c0006t0001g0197 a0001c0006t0001g0203 a0001c0006t0001g0218 a0001c0006t0001g0291 a0001c0006t0001g0327 a0001c0006t0001g0340 a0001c0006t0007g0082 a0001c0006t0007g0250 a0001c0006t0007g0402 a0001c0006t0012g0118 a0001c0006t0013g0019 a0001c0006t0021g0144 a0001c0008t0001g0267 a0001c0008t0005g0105 a0001c0008t0005g0113 a0001c0008t0005g0177 a0001c0008t0005g0202 a0001c0008t0005g0299 a0001c0008t0005g0342 a0001c0008t0005g0362 a0001c0008t0005g0387 a0001c0008t0005g0393 a0001c0008t0005g0401 a0001c0012t0002g0220 a0001c0012t0004g0061 a0001c0019t0003g0248 a0001c0019t0004g0083 a0001c0019t0004g0084 a0001c0020t0001g0156 a0001c0020t0001g0324 a0001c0020t0013g0136 a0001c0022t0001g0280 a0001c0022t0001g0294 a0001c0022t0001g0305 a0001c0026t0001g0400 a0001c0027t0005g0030 a0001c0027t0005g0321 a0001c0028t0007g0214 a0001c0028t0007g0244 a0001c0029t0001g0275 a0001c0029t0001g0304 a0001c0032t0004g0193 a0001c0032t0004g0194 a0001c0033t0003g0077 a0001c0038t0002g0219 a0001c0044t0002g0371 a0001c0045t0009g0181 a0001c0046t0003g0364 a0001c0047t0003g0062 a0001c0053t0006g0099 a0001c0054t0001g0141 a0001c0056t0005g0233 a0001c0059t0010g0215 a0001c0066t0002g0147 a0001c0067t0001g0165 a0001c0068t0007g0257 a0001c0070t0006g0346 a0003c0030t0003g0039 a0003c0030t0003g0211 a0004c0052t0004g0110 a0007c0043t0002g0375 a0008c0055t0003g0265 a0011c0035t0004g0264 a0013c0071t0003g0320	249	402	0.6194	21	c.137 others(38): Show c.1371+136_1371+137insTGACTACTTATTTAAGGCAAG		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21						chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425907	A A	AACCCGCC others(14): Show AACCCGCCACCCGCCACCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	438	0.0023	21	c.-40 others(30): Show c.-401_-400insACCCGCCACCCGCCACCCGCC		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					283		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425908	A A	ACCCGCCA others(14): Show ACCCGCCACCCGCCACCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02135.hp1 HG00099.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	2	438	0.0046	21	c.-40 others(30): Show c.-400_-399insCCCGCCACCCGCCACCCGCCG		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					282		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425908	A A	ACCCGCCA others(14): Show ACCCGCCACCCGCCGCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	438	0.0023	21	c.-40 others(30): Show c.-400_-399insCCCGCCACCCGCCGCCCGCCG		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					282		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425908	A A	ACCCGCCG others(14): Show ACCCGCCGCCCGCCGCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01361.hp1 HG01934.hp2 others(16): Show HG00408.hp1 HG01361.hp1 HG01934.hp2 HG02004.hp1 HG02040.hp2 HG02080.hp1 HG02257.hp1 HG02683.hp2 HG03453.hp2 HG03704.hp2 HG04228.hp1 NA18961.hp2 NA18982.hp1 NA18993.hp2 NA18994.hp1 NA19055.hp1 NA19055.hp2 NA19068.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0055 a0001c0001t0001g0076	19	438	0.0434	21	c.-40 others(30): Show c.-400_-399insCCCGCCGCCCGCCGCCCGCCG		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					282		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425912	G G	GCCGCCCG others(14): Show GCCGCCCGCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	438	0.0023	21	c.-39 others(30): Show c.-396_-395insCCGCCCGCCGCCCTCCGCCCT		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					278		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425919	G G	GCCGCCCG others(14): Show GCCGCCCGCCGCCCGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	21	c.-38 others(30): Show c.-389_-388insCCGCCCGCCGCCCGCCGCCCT		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					271		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425919	G G	GCCGCCCT others(14): Show GCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02083.hp1 HG02965.hp1 others(4): Show HG01255.hp2 HG02083.hp1 HG02965.hp1 NA18939.hp2 NA18977.hp1 NA19078.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0062	7	438	0.0160	21	c.-38 others(30): Show c.-389_-388insCCGCCCTCCGCCCTCCGCCCT		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					271		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(14): Show GCCGCCCGCCGCCCGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02129.hp1 HG03654.hp1 others(4): Show HG01516.hp2 HG02129.hp1 HG03654.hp1 NA18991.hp1 NA18995.hp2 NA19000.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007	7	438	0.0160	21	c.-38 others(30): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCT		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(14): Show GCCGCCCGCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01975.hp2 HG02027.hp1 others(9): Show HG01243.hp2 HG01975.hp2 HG02027.hp1 HG02451.hp2 NA18522.hp1 NA18953.hp1 NA18973.hp1 NA18973.hp2 NA18985.hp2 NA18992.hp1 NA19075.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0042	12	438	0.0274	21	c.-38 others(30): Show c.-382_-381insCCGCCCGCCGCCCTCCGCCCT		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCT others(14): Show GCCGCCCTCCGCCCGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	21	c.-38 others(30): Show c.-382_-381insCCGCCCTCCGCCCGCCGCCCT		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCT others(14): Show GCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01069.hp1 NA18951.hp1 others(4): Show HG00673.hp1 HG01069.hp1 NA18951.hp1 NA18980.hp1 NA18988.hp2 NA19081.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0079	7	438	0.0160	21	c.-38 others(30): Show c.-382_-381insCCGCCCTCCGCCCTCCGCCCT		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425954	T T	TCCGCCCG others(14): Show TCCGCCCGCCGCCCTCCGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	438	0.0023	21	c.-35 others(30): Show c.-354_-353insCCGCCCGCCGCCCTCCGCCCG		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					236		chr10	TogoVar
PGAP1_chr2_196828004_196931707	196832775	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01071.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0136 a0001c0001t0002g0141	2	188	0.0106	21	c.84 others(32): Show c.8458_*8459insAAAAAAAAAAAAAAAAAAAAA		PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding					228		chr2	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	376	0.0027	21	c.-35 others(32): Show c.-3543_-3542insATATATTTTTTTTTTTTTTTT		PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding					3500		chr17	TogoVar
PGAP6_chr16_365788_386978	382108	T T	TGGGGCGC others(14): Show TGGGGCGCGCGGGGGACGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01891.hp1 HG02280.hp2 HG02886.hp2 HG03540.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0003 a0002c0005t0006 a0002c0005t0013 others(1): Show a0002c0002t0003 a0002c0005t0006 a0002c0005t0013 a0002c0005t0017	a0002c0002t0003g0172 a0002c0005t0006g0049 a0002c0005t0006g0050 others(4): Show a0002c0002t0003g0172 a0002c0005t0006g0049 a0002c0005t0006g0050 a0002c0005t0006g0051 a0002c0005t0006g0053 a0002c0005t0013g0024 a0002c0005t0017g0052	8	376	0.0213	21	c.-30 others(30): Show c.-308_-288dupGGTCCGTCCCCCGCGCGCCCC		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding					131		chr16	TogoVar
PGBD5_chr1_230309490_230431332	230396284	T T	TTCCCTTT others(14): Show TTCCCTTTTACCCCCACACTCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0063 a0002c0003t0063	a0002c0003t0063g0233 a0002c0003t0063g0233	1	288	0.0035	21	c.331 others(40): Show c.331+29293_331+29313dupGGAGTGTGGGGGTAAAAGGGA		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGGT1B_chr5_115199012_115267877	115238291	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA20905.hp2 HG02273.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0268 a0001c0001t0050g0272 a0001c0001t0050g0268 a0001c0001t0050g0272	2	372	0.0054	21	c.328 others(36): Show c.328-303_328-283dupAAAAAAAAAAAAAAAAAAAAA		PGGT1B	ENSG00000164219.10	transcript	ENST00000419445.6	protein_coding	3/8						chr5	TogoVar
PGLYRP2_chr19_15463645_15484501	15482563	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0042 a0005c0005t0002g0042	1	382	0.0026	21	c.-31 others(32): Show c.-3193_-3192insGAAGGAAAGAAAGAAAGAAAG		PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding					3063		chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15482612	C C	CTTCCTTC others(14): Show CTTCCTTCTTCTTTCTTTCTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	382	0.0026	21	c.-32 others(32): Show c.-3242_-3241insTAAGAAAGAAAGAAGAAGGAA		PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding					3112		chr19	TogoVar
PGLYRP3_chr1_153292116_153317952	153297581	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0099 a0002c0013t0099	a0002c0013t0099g0142 a0002c0013t0099g0142	1	434	0.0023	21	c.37 others(30): Show c.374_*375insTCTTTCTTTCTTTCTTTCTTT		PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8				374		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74355553	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0046 a0004c0005t0046	a0004c0005t0046g0126 a0004c0005t0046g0126	1	380	0.0026	21	c.556 others(38): Show c.556-3998_556-3978dupTTTTTTTTTTTTTTTTTTTTT		PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	5/13						chr11	TogoVar
PGM5_chr9_68351611_68536061	68376834	T T	TTTCTCTT others(14): Show TTTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0040 a0001c0001t0031g0040	1	246	0.0041	21	c.262 others(38): Show c.262-1365_262-1364insTTCTCTTTCTTTCTTTCTTTC		PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10						chr9	TogoVar
PGM5_chr9_68351611_68536061	68376834	T T	TTTCTTTC others(14): Show TTTCTTTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19003.hp1 NA18955.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0068 a0001c0002t0002g0049 a0001c0002t0002g0068	2	246	0.0081	21	c.262 others(38): Show c.262-1365_262-1364insTTCTTTCTCTTTCTTTCTTTC		PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10						chr9	TogoVar
PGM5_chr9_68351611_68536061	68376835	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0018 a0001c0017t0018	a0001c0017t0018g0069 a0001c0017t0018g0069	1	246	0.0041	21	c.262 others(38): Show c.262-1347_262-1346insTTCTTTTCTTTCTTTCTTTCT		PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18964.hp1 NA18984.hp2 others(2): Show HG02040.hp1 NA18964.hp1 NA18984.hp2 NA19054.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0053 a0001c0001t0054 others(2): Show a0001c0001t0019 a0001c0001t0053 a0001c0001t0054 a0001c0001t0058 a0001c0001t0059	a0001c0001t0019g0048 a0001c0001t0053g0012 a0001c0001t0054g0049 others(2): Show a0001c0001t0019g0048 a0001c0001t0053g0012 a0001c0001t0054g0049 a0001c0001t0058g0052 a0001c0001t0059g0051	5	412	0.0121	21	c.-19 others(32): Show c.-1950_-1949insAAAAAAAAAAAAAAAAAAAAA		PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding					1865		chr19	TogoVar

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