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
PDE4DIP_chr1_148839428_149038016	149023587	C C	CATATATG others(273): Show CATATATGTACATGTATATGTGCGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTA TATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTA CATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATA TATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCA CATATATATGTACATGTATATGTGTGCACAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	24	0.0417	280	c.628 others(297): Show c.6284-837_6284-836insCGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTA TATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTA CATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATA TATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCA CATATATATGTACATGTATATGTGTGCACATATATATGTACATGTATATG TG		PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4DIP_chr1_148839428_149038016	149023587	C C	CATATATG others(273): Show CATATATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTA TATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTA CATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATA TATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCA CATATATATGTACATGTATATGTGTGCACAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0004 a0010c0008t0004	a0010c0008t0004g0001 a0010c0008t0004g0001	1	24	0.0417	280	c.628 others(297): Show c.6284-667_6284-666insCACATATATATGTACATGTATATGTGTG CACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTATA TGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTACA TGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATA TGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACA TATATATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTG TG		PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4DIP_chr1_148839428_149038016	149023772	A A	ATGTGTGC others(273): Show ATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTAG ATGTATGTGTGTGCACATATATATGTACATGTATGTGTGTGCACATATAT ATGTACATGTATGTGTGTGCACATATATATGGACATGTATGTGTGTGCAC ATATATATGGACATGTATGTGTGTGCACATATATATGTACATGTATGTGT GTGCACATATATATGTACATGTATGTGTGTGCACATATATATGTACATGT ATGTGTGTGCACATATATATGTACATGTATG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0005 a0012c0014t0005	a0012c0014t0005g0017 a0012c0014t0005g0017	1	24	0.0417	280	c.628 others(297): Show c.6284-667_6284-666insCACATATATATGTACATGTATATGTGTG CACATATATATGTAGATGTATGTGTGTGCACATATATATGTACATGTATG TGTGTGCACATATATATGTACATGTATGTGTGTGCACATATATATGGACA TGTATGTGTGTGCACATATATATGGACATGTATGTGTGTGCACATATATA TGTACATGTATGTGTGTGCACATATATATGTACATGTATGTGTGTGCACA TATATATGTACATGTATGTGTGTGCACATATATATGTACATGTATGTGTG TG		PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(273): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0250 a0001c0001t0005g0250	1	358	0.0028	280	c.143 others(295): Show c.143-197_143-196insGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977247	C C	CTCCCCCC others(273): Show CTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00738.hp2 others(2): Show HG00323.hp2 HG00639.hp1 HG00738.hp2 HG01361.hp1 HG02486.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0031 a0006c0009 a0001c0001 a0001c0031 a0006c0009	a0001c0001t0001 a0001c0031t0004 a0006c0009t0001 a0001c0001t0001 a0001c0031t0004 a0006c0009t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0031t0004g0081 others(2): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0031t0004g0081 a0006c0009t0001g0090 a0006c0009t0001g0092	5	408	0.0123	280	c.215 others(297): Show c.2150-624_2150-623insAGTGGGAGGCGGTTCCCGGGGTTGCGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCC CGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGT TGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGG TTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGG GA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PEX10_chr1_2398974_2417564	2401339	C C	CTCCCTCC others(273): Show CTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCT CCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTC CTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCC CTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18966.hp2 NA19000.hp2 others(1): Show NA18942.hp1 NA18966.hp2 NA19000.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	358	0.0112	280	c.44 others(291): Show c.4426_*4427insAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGG AGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGA GGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAGGAG GAAGAAGGGAGGAGGAGGGAGGAAGAAGGGAGGAGGGAGGAGGAGGGAGG AGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGGAAGGAGGGAGGAGGAGGG AGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGA		PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding					2634		chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(273): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGG AGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG03492.hp1 HG00099.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0113 a0001c0001t0001g0002 a0001c0001t0001g0113	2	312	0.0064	280	c.53 others(291): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA		PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding					4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(273): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGG AGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03492.hp2 HG00099.hp1 HG03492.hp2	a0002 a0004 a0002 a0004	a0002c0007 a0004c0012 a0002c0007 a0004c0012	a0002c0007t0089 a0004c0012t0002 a0002c0007t0089 a0004c0012t0002	a0002c0007t0089g0074 a0004c0012t0002g0106 a0002c0007t0089g0074 a0004c0012t0002g0106	2	218	0.0092	280	c.262 others(295): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTC CCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCC TCCCATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCCTC		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19						chr17	TogoVar
PKIA_chr8_78511340_78610267	78524024	T T	TTATATAT others(273): Show TTATATATATAAATATATATAAACATTTATATATATAAATATATATAAAC ATTTATATATATAAATATATATAAATATATATAAACGTTTATATATATAA ATATATATAAACGTTTATATATATAAATATATAAACGTTTATATATAAAT ATATATAAACGTTTATATATATAAATATATATAAACGTTTATATATATAA ATATATATAAACGTTTATATATATAAATATATATAAACGTTTATATATAT AAATATATATAAACGTTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	186	0.0054	280	c.-15 others(299): Show c.-157+7562_-157+7563insTATAAATATATATAAACATTTATATA TATAAATATATATAAACATTTATATATATAAATATATATAAATATATATA AACGTTTATATATATAAATATATATAAACGTTTATATATATAAATATATA AACGTTTATATATAAATATATATAAACGTTTATATATATAAATATATATA AACGTTTATATATATAAATATATATAAACGTTTATATATATAAATATATA TAAACGTTTATATATATAAATATATATAAACGTTTATATATATTTATATA TATA		PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKIA_chr8_78511340_78610267	78524024	T T	TTATATAT others(273): Show TTATATATATAAATATATATAAACATTTATATATATAAATATATATAAAC ATTTATATATATAAATATATATAAATATATATAAACGTTTATATATATAA ATATATATAAACGTTTATATATATAAATATATAAACGTTTATATATATAT ATATATAAACGTTTATATATATAAATATATATAAACGTTTATATATATAA ATATATATAAACGTTTATATATATAAATATATATAAACGTTTATATATAT AAATATATATAAACGTTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 NA18522.hp1 HG01891.hp1 HG02886.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0024g0026 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0024g0026	3	186	0.0161	280	c.-15 others(299): Show c.-157+7562_-157+7563insTATAAATATATATAAACATTTATATA TATAAATATATATAAACATTTATATATATAAATATATATAAATATATATA AACGTTTATATATATAAATATATATAAACGTTTATATATATAAATATATA AACGTTTATATATATATATATATAAACGTTTATATATATAAATATATATA AACGTTTATATATATAAATATATATAAACGTTTATATATATAAATATATA TAAACGTTTATATATATAAATATATATAAACGTTTATATATATTTATATA TATA		PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKIA_chr8_78511340_78610267	78524024	T T	TTATATAT others(273): Show TTATATATATAAATATATATAAATATATATAAACGTTTATATATATAAAT ATATATAAACGTTTATATATATAAATATATAAACGTTTATATATATAAAT ATATATAAACGTTTATATATATAAATATATATAAACGTTTATATATAAAT ATATATAAACGTTTATATATATAAATATATATAAACGTTTATATATATAA ATATATATAAACGTTTATATATATAAATATATATAAACGTTTATATATAT AAATATATATAAACGTTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02896.hp2 HG01243.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0131 a0001c0001t0003g0028 a0001c0001t0002g0131 a0001c0001t0003g0028	2	186	0.0108	280	c.-15 others(299): Show c.-157+7562_-157+7563insTATAAATATATATAAATATATATAAA CGTTTATATATATAAATATATATAAACGTTTATATATATAAATATATAAA CGTTTATATATATAAATATATATAAACGTTTATATATATAAATATATATA AACGTTTATATATAAATATATATAAACGTTTATATATATAAATATATATA AACGTTTATATATATAAATATATATAAACGTTTATATATATAAATATATA TAAACGTTTATATATATAAATATATATAAACGTTTATATATATTTATATA TATA		PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKP3_chr11_389209_409908	402257	G G	GGCCCCCG others(273): Show GGCCCCCGCTCACCCCCCCGGCCCCGCCTCACTCCCGACCCCGCTCACCC CCGACCCCCCGGCCCCGCTCACCCCCCGACCCACTCACACCCGGCCCCGC TCACCCCGCCCCGCTCACCCCCCCCGACCCGCTCACACCCCGGCCCCGCT CACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACC CCCGACCCGCTCACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGC CCCGCTCACACCGGGACCCCGCTCACCACCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0122 a0001c0003t0001g0122	1	216	0.0046	280	c.173 others(297): Show c.1738-816_1738-815insCGCTCACCCCCCCGGCCCCGCCTCACTC CCGACCCCGCTCACCCCCGACCCCCCGGCCCCGCTCACCCCCCGACCCAC TCACACCCGGCCCCGCTCACCCCGCCCCGCTCACCCCCCCCGACCCGCTC ACACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACC CCGGACCCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCAG CCCCGCTCACACCCGCCCCGCTCACACCGGGACCCCGCTCACCACCCGCC CC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(273): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	2	250	0.0080	280	c.309 others(299): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCT GCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(273): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	250	0.0040	280	c.309 others(299): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT CCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCT GCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCXD1_chrX_276381_308356	280536	G G	GGGGAGGC others(273): Show GGGGAGGCCGTGCAGGGGGAGGGGGAGGCCGTGCAGGGGGAAGGGAGGCC GTGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGAGG AGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGC CGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGCCGTGCAGGCGC GAGGGGGGTACGTGCAGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGC CGTGCAGGGGAAGGGGGGCCGTGCAGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0078 a0001c0001t0033g0078	1	176	0.0057	280	c.-11 others(291): Show c.-1170_-1169insGGGAGGCCGTGCAGGGGGAGGGGGAGGCCGTGCA GGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGGG AGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGC AGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGG GAGCCGTGCAGGCGCGAGGGGGGTACGTGCAGGGGCAGCGGAGGCCGTGC AGGGGGAGGGGAGGCCGTGCAGGGGAAGGGGGGCCGTGCAGGGGAA		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					844		chrX	TogoVar
PLCXD1_chrX_276381_308356	283654	T T	TCAGGCAC others(273): Show TCAGGCACGGGTGGGGGCGGCCGTGTTGCCAGGCCCGGGTGGGGGCGGCC TTGGTGTCAGGCACGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGG GCGGCCGTGTTGCCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGG GTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGCCGTGTTGCCAG GCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCTTGG TGTCAGGCACGGGTGGGGGCGGCCGTGTTGC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0146 a0001c0002t0004g0146	1	176	0.0057	280	c.-21 others(295): Show c.-21-508_-21-507insACGGGTGGGGGCGGCCGTGTTGCCAGGCCC GGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGCCTTGGTGTC AGGCACGGGTGGGGGCGGCCGTGTTGCCAGGCCCGGGTGGGGGCGGCCTT GGTGTCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGC GGCCGTGTTGCCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGT GGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGCCGTGTTGCCAGGC		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG4B_chr5_87168_194966	141130	C C	CGCACACC others(273): Show CGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTGCACA CCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACA ACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCC CCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCCTCCCCGCACACCCCCAT CCCCTCCCCTGCACACCCCACCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0017 a0017	a0017c0078 a0017c0078	a0017c0078t0067 a0017c0078t0067	a0017c0078t0067g0192 a0017c0078t0067g0192	1	210	0.0048	280	c.147 others(297): Show c.1477+423_1477+424insACAACCTCCCCCTGCACACCCCACCCCC CTCCCCTGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCT GCACACCCCACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACC CCCACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCA CTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCCTCCCC GCACACCCCCATCCCCTCCCCTGCACACCCCACCCCCTCCCCTGCACACC CC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166313	C C	CGGGGCGG others(273): Show CGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAACG CTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACA GTAATCCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGG CTCACAGTAATCCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGG GCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGGGCTCACACTAATGCTCTGAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0017 a0017	a0017c0079 a0017c0079	a0017c0079t0053 a0017c0079t0053	a0017c0079t0053g0181 a0017c0079t0053g0181	1	210	0.0048	280	c.347 others(299): Show c.3476+2772_3476+2773insGGCTCACAGTAATCCTCTGACGGGGC GGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGA CGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAACG CTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACA GTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGATGGG GCGG		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	977247	C C	CTCCCCCC others(273): Show CTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp2 others(5): Show HG00099.hp1 HG00323.hp1 HG00639.hp2 HG00738.hp1 HG01106.hp1 HG01361.hp1 HG02486.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0013	a0001c0001 a0003c0003 a0012c0048 others(1): Show a0001c0001 a0003c0003 a0012c0048 a0013c0040	a0001c0001t0001 a0003c0003t0001 a0012c0048t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0012c0048t0001 a0013c0040t0001	a0001c0001t0001g0001 a0001c0001t0001g0053 a0003c0003t0001g0010 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0053 a0003c0003t0001g0010 a0012c0048t0001g0140 a0013c0040t0001g0034	8	422	0.0190	280	c.26 others(291): Show c.2672_*2673insTCCCCCCACCAACCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1383		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977477	C C	CAACCCCG others(273): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0001 a0004c0028t0001	a0004c0028t0001g0129 a0004c0028t0001g0129	1	422	0.0024	280	c.29 others(291): Show c.2902_*2903insAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCC CCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1613		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977604	C C	CCAACCCC others(273): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCCGCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0015 a0015	a0015c0047 a0015c0047	a0015c0047t0001 a0015c0047t0001	a0015c0047t0001g0001 a0015c0047t0001g0001	1	422	0.0024	280	c.30 others(291): Show c.3029_*3030insCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCC CCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1740		chr1	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(273): Show AGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0329 a0001c0033t0003g0329	1	340	0.0029	280	c.227 others(297): Show c.227+3604_227+3605insCATGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCAC CAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(273): Show AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCAC CAGCCCTGTCATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0005 a0001c0002t0022g0005	1	340	0.0029	280	c.227 others(297): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACC AGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGA GG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAMEF10_chr1_12887896_12903270	12893002	G G	GGCCAAGG others(273): Show GGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACT GCCCTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAGATCCTCCTGTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01975.hp1 HG01975.hp1	a0045 a0045	a0045c0073 a0045c0073	a0045c0073t0003 a0045c0073t0003	a0045c0073t0003g0065 a0045c0073t0003g0065	1	377	0.0027	280	c.133 others(289): Show c.1338_1339insAACAGGAGGATCTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGG CACAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGC	p.Pro others(5): Show p.Pro447fs	PRAMEF10	ENSG00000187545.5	transcript	ENST00000235347.4	protein_coding	4/4	1418/1525	1338/1425	446/474			chr1	TogoVar
PRDM16_chr1_3064203_3443621	3162861	C C	CTCTAGAG others(273): Show CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAG AGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGG CTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGG GAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGA GAGGGGATGTGCGCAGAAGCCCCTGGCATGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(42): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02273.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03654.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA19043.hp2 NA19074.hp2 NA19080.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0014 a0001c0021 a0001c0031 a0002c0003 a0002c0007 a0003c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0058 a0001c0001t0076 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0002t0017 a0001c0002t0036 a0001c0002t0084 a0001c0004t0007 a0001c0004t0010 a0001c0004t0081 a0001c0006t0011 a0001c0006t0013 a0001c0009t0005 a0001c0014t0030 a0001c0014t0068 a0001c0021t0049 a0001c0031t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0003t0013 a0002c0003t0051 a0002c0007t0019 a0003c0005t0009 a0003c0011t0001	a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0183 others(42): Show a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0002g0086 a0001c0001t0002g0176 a0001c0001t0004g0046 a0001c0001t0005g0184 a0001c0001t0006g0155 a0001c0001t0007g0054 a0001c0001t0012g0041 a0001c0001t0014g0132 a0001c0001t0018g0164 a0001c0001t0022g0061 a0001c0001t0023g0112 a0001c0001t0028g0111 a0001c0001t0058g0043 a0001c0001t0076g0170 a0001c0002t0001g0095 a0001c0002t0001g0116 a0001c0002t0003g0147 a0001c0002t0016g0195 a0001c0002t0017g0177 a0001c0002t0036g0157 a0001c0002t0084g0138 a0001c0004t0007g0063 a0001c0004t0010g0032 a0001c0004t0081g0031 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0009t0005g0200 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0021t0049g0023 a0001c0031t0037g0156 a0002c0003t0001g0018 a0002c0003t0002g0102 a0002c0003t0004g0123 a0002c0003t0006g0050 a0002c0003t0013g0137 a0002c0003t0051g0079 a0002c0007t0019g0020 a0003c0005t0009g0136 a0003c0011t0001g0056 a0003c0011t0001g0057	45	210	0.2143	280	c.38- others(297): Show c.38-23224_38-23223insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTG CGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGA AGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAG CCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCC CC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(273): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTACCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0104 a0001c0013t0001g0104	1	210	0.0048	280	c.387 others(299): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCCCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(273): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	210	0.0048	280	c.387 others(299): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(273): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCACTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0007 a0005c0024t0007	a0005c0024t0007g0173 a0005c0024t0007g0173	1	210	0.0048	280	c.387 others(299): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCACTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(273): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0075 a0001c0001t0034g0075	1	210	0.0048	280	c.387 others(299): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212640	G G	GGCCCCCT others(273): Show GGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCG GTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATC CTCCCGGCCCCCTCGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCG CTGAGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGC TCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCC CCTCGCTGCGGTCCTCCCGCTCATCCTCCCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0111 a0001c0001t0028g0111	1	210	0.0048	280	c.387 others(299): Show c.387+26197_387+26198insACCGGCCCCCTCGCTGCGGTCCTCCC GCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGC CCCCTCGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGAGGTC CTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTC CCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG CGGTCCTCCCGCTCATCCTCCCAGCCCCCTCGCTGCGGTCCTCCCGCTCA TCCT		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93722071	A A	ATGGTGGT others(273): Show ATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGG TAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGT GGTAGTGGTGATGCTGGTGGTAATGGGGTGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0283 a0001c0006t0002g0283	1	397	0.0025	280	c.360 others(295): Show c.360-526_360-525insCCACCCCATTACCACCAGCATCACCACTAC CACCACCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATT ACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGCATCACC ACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCACC CCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGCA TCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCA		PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4						chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722147	G G	GTAGTGGT others(273): Show GTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAATGGTGATGCTG GTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGG GGTGGTGGTGGTAATGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGT GGTGATGCTGGTGGTAATGGGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	397	0.0025	280	c.360 others(295): Show c.360-602_360-601insGCACCACCACCCCATTACCACCAGCATCAC CACTACCACCACCACCCCATTACCACCAGCATCACCATTACCACCACCAC CCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGC ATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACC ACCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCA CCAGCATCACCATTACCACCACCACCCCATTACCACCAGCATCACCACTA		PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4						chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722287	G G	GTAGTGGT others(273): Show GTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGCTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGG GGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGCTAGT GGTGATGCTGGTGGTAATGGGGTGATGGTGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	397	0.0025	280	c.360 others(295): Show c.360-742_360-741insGCACCATCACCCCATTACCACCAGCATCAC CACTAGCACCATCACCCCATTACCACCAGCATCACCACTACCACCACCAC CCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGC ATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTAGCACC ACCACCCCATTACCACCAGCATCACCACTACCACCATCACCCCATTACCA CCAGCATCACCACTACCACCATCACCCCATTACCACCAGCATCACCACTA		PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4						chr14	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(273): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCTTCCCCTC CCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCTTCCCCT CCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCTCCCTTCC CTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCT CTCCTTCCCCCTTCCCTTCTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG04228.hp1 HG00639.hp1 HG00738.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	3	328	0.0092	280	c.845 others(297): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCC CCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCC CTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTC CCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTC CCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTT CC		PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKN_chr6_161342417_162732766	162450316	C C	CGTGAATG others(273): Show CGTGAATGTAAATGCCCCTGTGATTGTAATCCCCCTGTGAATGTAAACGC CCCTGTGATTGTAATCCCCCTGTGAATGTAAACGCCCCTATGATTGTAAT CCCCCTGTGAATGTAAACGCCCCTGTGATTGTAATCCCCCTGTGAATGTA AACGCCCCTGTGATTGTAATCCCCCTGTGAATGTAAACGCCCCTGTGATT GTAATCCCCCTGTGAATGTAAACGCCCCTGTGATTGTAATCCCCCTGTGA ATGTAAACGCCCCTGTGATTGTAATCCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	280	c.8-6 others(293): Show c.8-6844_8-6843insAGGGGGATTACAATCACAGGGGCGTTTACATT CACAGGGGGATTACAATCACAGGGGCGTTTACATTCACAGGGGGATTACA ATCACAGGGGCGTTTACATTCACAGGGGGATTACAATCACAGGGGCGTTT ACATTCACAGGGGGATTACAATCACAGGGGCGTTTACATTCACAGGGGGA TTACAATCATAGGGGCGTTTACATTCACAGGGGGATTACAATCACAGGGG CGTTTACATTCACAGGGGGATTACAATCACAGGGGCATTTACATTCAC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PROX1_chr1_213982973_214046510	214046209	T T	TAAGAGTT others(273): Show TAAGAGTTGCCATTATACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 NA18942.hp2 NA18951.hp1 others(2): Show HG00140.hp2 NA18942.hp2 NA18951.hp1 NA18980.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0048 a0001c0001t0066 a0001c0001t0022 a0001c0001t0048 a0001c0001t0066	a0001c0001t0022g0246 a0001c0001t0022g0247 a0001c0001t0022g0249 others(2): Show a0001c0001t0022g0246 a0001c0001t0022g0247 a0001c0001t0022g0249 a0001c0001t0048g0120 a0001c0001t0066g0102	5	274	0.0183	280	c.10 others(293): Show c.10375_*10376insAAGAGTTGCCATTATACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGG GCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCC AGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA		PROX1	ENSG00000117707.17	transcript	ENST00000366958.9	protein_coding					4700		chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTCCCTCT others(273): Show CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	227	0.0044	280	c.23 others(291): Show c.2397_*2398insTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTG		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2117		chr19	TogoVar
PRRC2B_chr9_131389086_131505193	131420465	C C	CTTTCTCT others(273): Show CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTC CTCTCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTTCTTTCTTTCTTTCTTTGT TTCTTTCTTTCTTTGTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0007 a0021c0028t0007	a0021c0028t0007g0135 a0021c0028t0007g0135	1	216	0.0046	280	c.-51 others(297): Show c.-51-9624_-51-9623insCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTTCTCTCTTCCTCTCTTTCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTTCT TTCTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTT CT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PTDSS2_chr11_445279_496399	459097	G G	GACACTCC others(273): Show GACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	346	0.0029	280	c.183 others(295): Show c.183-834_183-833insCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459264	C C	CGGTGGAT others(273): Show CGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGT AGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT AGGACCTGGGTTAGACGTGAGGACACACTCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	346	0.0029	280	c.183 others(295): Show c.183-914_183-913insAGGACCTGGGTTAGACGTGAGGACACACTC CGGTGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGT		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(273): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCACTCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCC CCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCT CACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCACCCTCCCTCCTC CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	94	0.0106	280	c.191 others(301): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCACTCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCC CCCCCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCCCCTC CCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCACCCTCCCT CCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCT CCTCTC		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(273): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18943.hp2 HG03688.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0054 a0001c0001t0004g0048 a0001c0001t0004g0054	2	354	0.0057	280	c.269 others(295): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATAGCAATTG		RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7						chr3	TogoVar
RALGAPA2_chr20_20384530_20717644	20458790	C C	CTATATAT others(273): Show CTATATATATATAGACCTATATATATATAGACCTATATATATATAGACCT ATATATATATAGACCTATATATATATAGACCTATATATATATAGACCTAT ATATATATAGACCTATATATATATAGACCTATATATATAGACCTATATAT ATATAGACCTATATATATAGACCTATATATATATAGACCTATATATATAG ACCTATATATATATAGACCTATATATATAGACCTATATATATAGACCTAT ATATATATAGACCTATATATATATAGACCTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	122	0.0082	280	c.549 others(301): Show c.5495+14038_5495+14039insTAGGTCTATATATATATAGGTCTA TATATATATAGGTCTATATATATAGGTCTATATATATAGGTCTATATATA TATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATAGG TCTATATATATATAGGTCTATATATATAGGTCTATATATATATAGGTCTA TATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATA TATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATATA TATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RER1_chr1_2386841_2410436	2401339	C C	CTCCCTCC others(273): Show CTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCT CCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTC CTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCC CTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18966.hp2 NA19000.hp1 others(1): Show NA18942.hp2 NA18966.hp2 NA19000.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0074 a0001c0001t0002g0011 a0001c0001t0002g0074	4	354	0.0113	280	c.365 others(295): Show c.365+405_365+406insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCC TCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCT CCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCT CCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCT CCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTT		RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(273): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTG TATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACA TACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTA TGTATGTGTACACATACATATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	280	c.-23 others(291): Show c.-2328_-2327insGTACACATACATATGTATGTGTACACATACATAC GTATGTGTACACATACATACGTATGTATGTATACACATACATACGTATGT ATACACATACATACATATGTATGTATACACATACATACGTATGTATACAC ATACATACGTATGTATACACATACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACATACGTATGCATACACATACATAT GTATGCATACACATACATATGTATGCATACACATACATATGTATGC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759540	T T	TATGTATG others(273): Show TATGTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTATA CATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTA TGTGTACACATACATATGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA19012.hp1 NA18971.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	452	0.0044	280	c.-23 others(291): Show c.-2356_-2355insGTACACATACATACATATGTATGTGTACACATAC ATACGTATGTGTACACATACATACGTATGTATGTATACACATACATACGT ATGTATACACATACATACATATGTATGTATACACATACATACGTATGTAT ACACATACATACATATGTATGTATACACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATATGTATGCATACACATACATATGTATGCATACACATACAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2131		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759540	T T	TATGTATG others(273): Show TATGTATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTACGTATGTGTATA CATACATACGTATGTATGTGTACACATACGTACGTATGTGTACACATACA TACGTATGTATGTGTACACATACGTACGTATGTGTACACATACATACGTA TGTATGTGTACACATACGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	280	c.-23 others(291): Show c.-2356_-2355insGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTGTACACATACGTACGTATGTGTACACATACATACGTATGT ATGTGTACACATACGTACGTATGTGTACACATACATACGTATGTATGTAT ACACATACGTACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGCATACACATACATATGTATGCATACACATACAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2131		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759586	C C	CATACGTA others(273): Show CATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTA TGTGTACACATACATATGTATGTATGTGTACACATACATATGTATGTATG TGTACACATACATATGTATGTGTACACATACATATGTATGTATGTGTACA CATACATATGTATGTATGTGTACACATACGTATGTATGTGTATACATACG TATGTATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	280	c.-24 others(291): Show c.-2402_-2401insACACATACATACGTATGTATACACATACATACGT ATGTATACACATACATACGTATGTGTACACATACATACATATGTATGTGT ACACATACATACATATGTATGTGTACACATACATATGTATGTGTACACAT ACATACATATGTATGTGTACACATACATACATATGTATGTGTACACATAC ATACGTATGTGTACACATACATACGTATGTATGTATACACATACATACGT ATGTATACACATACATACGTATGTATGTATACACATACATACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2177		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(273): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACA TACGTATGTGTATACATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTATACATACGTATGTATGTGTATACATACATATGTATGTGTA TACATACATATGTATGTATGTGTATACATACATATGTATGTATGTGTATA CATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACGTATG TATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA19058.hp1 NA18984.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	452	0.0044	280	c.-24 others(291): Show c.-2426_-2425insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATACACATACATACGTATGTAT ACACATACATACATATGTATGTATACACATACATACATATGTATGTATAC ACATACATATGTATGTATACACATACATACGTATGTATACACATACATAC GTATGTATGTATACACATACATACGTATGTATGTATACACATACGTATGT ATGTATACACATACATACGTATGTATACACATACATACATACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2201		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(273): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACA TACGTATGTGTATACATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATATGTATGTATGTGTATACATACATATGTATGTATGTGTATA CATACATATGTATGTGTATACATACGTATGTATGTGTATACATACGTATG TATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	280	c.-24 others(291): Show c.-2426_-2425insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATACACATACATATGTATGTAT ACACATACATACATATGTATGTATACACATACATACATATGTATGTATAC ACATACATACGTATGTATACACATACATACGTATGTATACACATACATAC GTATGTATGTATACACATACATACGTATGTATGTATACACATACGTATGT ATGTATACACATACATACGTATGTATACACATACATACATACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2201		chr3	TogoVar

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