Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(41): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0098 a0001c0001t0019g0098	1	203	0.0049	48	c.-46 others(67): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGAAGAAGAAGAAGAAGAAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(41): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0148 a0001c0002t0008g0148	1	203	0.0049	48	c.-46 others(67): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGAAGAAGAAGAAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLVAP_chr19_17346455_17382342	17349153	T T	TCTTTCTT others(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0102 a0001c0003t0002g0102	1	436	0.0023	48	c.32 others(59): Show c.3208_*3209insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2301		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349157	T T	TCTTTCTT others(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02129.hp2 HG00544.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0316 a0001c0001t0001g0168 a0001c0001t0001g0316	2	436	0.0046	48	c.32 others(59): Show c.3204_*3205insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2297		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349161	T T	TCTTTCTT others(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0412 a0001c0011t0001g0412	1	436	0.0023	48	c.32 others(59): Show c.3200_*3201insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2293		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39129711	G G	GGAAAGAA others(41): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18969.hp2 NA18985.hp1 others(2): Show HG00558.hp1 NA18969.hp2 NA18985.hp1 NA18985.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0151 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0151 a0001c0001t0004g0168 a0001c0001t0012g0290	5	320	0.0156	48	c.255 others(65): Show c.255+9942_255+9943insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	19966359	A A	ACACATAT others(41): Show ACACATATATAAAAAATATATATGTGCACATATATAAAATATATATGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp1 HG02486.hp1 others(14): Show HG01496.hp1 HG01978.hp1 HG02486.hp1 HG02886.hp2 HG02970.hp1 HG03486.hp2 HG03669.hp1 HG03834.hp1 HG04115.hp2 NA18522.hp1 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0051 a0001c0001t0060 a0001c0001t0068 others(13): Show a0001c0001t0051 a0001c0001t0060 a0001c0001t0068 a0001c0001t0084 a0001c0001t0085 a0001c0001t0097 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0020 a0002c0002t0024 a0002c0002t0090 a0002c0002t0093 a0002c0002t0112 a0003c0003t0042 a0003c0003t0104	a0001c0001t0051g0179 a0001c0001t0060g0073 a0001c0001t0068g0173 others(14): Show a0001c0001t0051g0179 a0001c0001t0060g0073 a0001c0001t0068g0173 a0001c0001t0084g0141 a0001c0001t0085g0103 a0001c0001t0097g0104 a0002c0002t0002g0167 a0002c0002t0002g0172 a0002c0002t0005g0113 a0002c0002t0007g0038 a0002c0002t0020g0080 a0002c0002t0024g0043 a0002c0002t0090g0148 a0002c0002t0093g0119 a0002c0002t0112g0035 a0003c0003t0042g0022 a0003c0003t0104g0081	17	180	0.0944	48	c.113 others(67): Show c.113-35380_113-35333dupAAATATATATGTGCACATATATAAAA AATATATATGTGCACATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	19973314	A A	ATATATAT others(41): Show ATATATATGTATACATATATATGTGTATATATGTATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02717.hp2 others(5): Show HG01884.hp2 HG02145.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG03486.hp2 HG04228.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0029 a0001c0001t0045 others(5): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0045 a0001c0001t0051 a0001c0001t0097 a0001c0001t0102 a0002c0002t0019 a0003c0003t0108	a0001c0001t0001g0132 a0001c0001t0029g0003 a0001c0001t0045g0061 others(5): Show a0001c0001t0001g0132 a0001c0001t0029g0003 a0001c0001t0045g0061 a0001c0001t0051g0179 a0001c0001t0097g0104 a0001c0001t0102g0109 a0002c0002t0019g0102 a0003c0003t0108g0036	8	180	0.0444	48	c.113 others(67): Show c.113-28424_113-28423insATATATATGTGTATATATGTATACAT ATATATGTGTATATATGTATAC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238687	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATACACACACACATATATGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0110 a0006c0007t0110	a0006c0007t0110g0054 a0006c0007t0110g0054	1	180	0.0056	48	c.131 others(67): Show c.1313-6652_1313-6651insTATATATATATATATATATATATACA CACACACATATATGTGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238687	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATACACACACATATATGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0139 a0002c0002t0053g0139	1	180	0.0056	48	c.131 others(67): Show c.1313-6652_1313-6651insTATATATATATATATATATATATATA CACACACATATATGTGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238687	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATACACACATATATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01891.hp1 others(5): Show HG00639.hp1 HG01069.hp1 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG03486.hp1 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 others(4): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0020 a0002c0002t0091 a0002c0002t0113	a0002c0002t0002g0112 a0002c0002t0006g0014 a0002c0002t0006g0151 others(5): Show a0002c0002t0002g0112 a0002c0002t0006g0014 a0002c0002t0006g0151 a0002c0002t0007g0058 a0002c0002t0019g0108 a0002c0002t0020g0121 a0002c0002t0091g0149 a0002c0002t0113g0045	8	180	0.0444	48	c.131 others(67): Show c.1313-6652_1313-6651insTATATATATATATATATATATATATA TACACACATATATGTGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(41): Show GGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0220 a0001c0002t0002g0220	1	302	0.0033	48	c.-29 others(57): Show c.-295_-294insTTCCCCCTCCCCCCTCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307775	A A	AGGGGGGA others(41): Show AGGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0293 a0001c0003t0001g0293	1	302	0.0033	48	c.-29 others(57): Show c.-297_-296insCTCTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCC TCCCCTCCCCCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		130		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307831	G G	GAAGAGGG others(41): Show GAAGAGGGGGAGGGGGGGAGAGGGGGAGGGGGGGAGAGGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0154	1	302	0.0033	48	c.-35 others(57): Show c.-353_-352insTCCCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCCCC CCTCCCCCTCTT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		186		chr22	TogoVar
PM20D2_chr6_89141055_89170565	89154943	T T	TACATATA others(41): Show TACATATACACATATGTGTATCACACATATCATATCATACACATATACA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19005.hp2 NA18982.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0071 a0002c0002t0006g0072 a0002c0002t0006g0071 a0002c0002t0006g0072	2	372	0.0054	48	c.912 others(61): Show c.912+42_912+43insCATATACACATATGTGTATCACACATATCATA TCATACACATATACAA	PM20D2	ENSG00000146281.6	transcript	ENST00000275072.5	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(41): Show GGGTGGGGGGGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02056.hp1 HG02027.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0001g0005 a0001c0001t0001g0057	2	330	0.0061	48	c.-45 others(59): Show c.-4531_-4530insGCCTCCCCCACCCCCCCACCGCCCCCCCACCCCC CCACCCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(41): Show GGGTGGGGGGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02083.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0113 a0001c0001t0001g0005 a0001c0001t0001g0113	2	330	0.0061	48	c.-45 others(59): Show c.-4531_-4530insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCCC CCCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(41): Show GGGTGGGGGGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	48	c.-45 others(59): Show c.-4531_-4530insGCCTCCCCCCACCCCCCCACCGCCCCCCCACCCC CCCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594338	T T	TGGGGGGG others(41): Show TGGGGGGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	330	0.0030	48	c.-45 others(59): Show c.-4534_-4533insCACCGCCTCCCCCACCCCCCCACCGCCCCCCCAC CCCCCCACCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4499		chr22	TogoVar
PNPLA5_chr22_43874678_43897013	43896636	T T	TAGAATAA others(41): Show TAGAATAAGGGAGGGGGGGTGGTGAAAGGAGTAAAGATAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0131 a0015c0021t0001g0131	1	438	0.0023	48	c.-47 others(59): Show c.-4757_-4756insCTTTTTTTTTTATCTTTACTCCTTTCACCACCCC CCCTCCCTTATTCT	PNPLA5	ENSG00000100341.13	transcript	ENST00000216177.9	protein_coding		4624		chr22	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0010 a0009c0014t0010	a0009c0014t0010g0039 a0009c0014t0010g0039	1	440	0.0023	48	c.-21 others(59): Show c.-2120_-2119insAAAAAAAAAAAATATATATATATATATATATATA TATATATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	340	0.0029	48	c.438 others(63): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLG_chr15_89311320_89339824	89325143	A A	AGAGTGAG others(41): Show AGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02895.hp1 HG02896.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0056 a0001c0013t0001g0244 a0001c0013t0001g0056 a0001c0013t0001g0244	2	398	0.0050	48	c.194 others(65): Show c.1949+306_1949+307insTCTCTCTCACTCACTCTCTCACTCACTC ACTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLR2M_chr15_57701714_57722557	57717320	T T	TTCCTTTT others(41): Show TTCCTTTTTTTTTTTTTTATTTTCTTTTTTTATTTTTTGTTTTTTTTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0015 a0004c0005t0015	a0004c0005t0015g0119 a0004c0005t0015g0119	1	404	0.0025	48	c.26 others(59): Show c.2642_*2643insCCTTTTTTTTTTTTTTATTTTCTTTTTTTATTTT TTGTTTTTTTTTAT	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	4/4	2643	INFO_REALIGN_3_PRIME	chr15	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(41): Show AACACACACACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	366	0.0027	48	c.26 others(59): Show c.2616_*2617insACACACACACACACACACACACACACACACACAC ACACACACACACAC	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding		199		chr5	TogoVar
POR_chr7_75910155_75991855	75952281	G G	GGGGGGCT others(41): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19091.hp2 NA18967.hp2 NA19091.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0214 a0001c0004t0001g0217 a0001c0004t0001g0214 a0001c0004t0001g0217	2	278	0.0072	48	c.-13 others(65): Show c.-13-1678_-13-1677insCGGGGCGGCTGGCCGGGCGGGGGCTGAC CCCCCCACCTCCCTCCCGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75988765	A A	AGGCCGGG others(41): Show AGGCCGGGTGGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0176 a0002c0001t0002g0176	1	278	0.0036	48	c.22 others(59): Show c.2284_*2285insGGCCGGGTGGGGGGGGTGGAGGGGAAGGCCGGGT GGGGGGGTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1911		chr7	TogoVar
POR_chr7_75910155_75991855	75989106	G G	GTGGAGGT others(41): Show GTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0105 a0002c0001t0002g0105	1	278	0.0036	48	c.26 others(59): Show c.2625_*2626insTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGG GGGGGAGGGGTGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2252		chr7	TogoVar
POTEB_chr15_21841329_21882735	21850843	A A	ATATATAT others(41): Show ATATATATATAATATATATATATATATATATATATATATTAAAGAAAAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0045 a0004c0003t0004g0045	1	64	0.0156	48	c.129 others(67): Show c.1299-2522_1299-2521insATTTTCTTTAATATATATATATATAT ATATATATATATTATATATATA	POTEB	ENSG00000233917.9	transcript	ENST00000439682.2	protein_coding	9/10			chr15	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01069.hp2 others(43): Show HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp2 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03927.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18992.hp1 NA19003.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0016 others(3): Show a0001c0001 a0001c0002 a0001c0016 a0001c0020 a0003c0003 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0002 a0001c0016t0008 a0001c0020t0001 a0003c0003t0002 a0003c0003t0004 a0007c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0222 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0119 a0001c0001t0002g0177 a0001c0001t0003g0221 a0001c0001t0005g0046 a0001c0001t0007g0157 a0001c0002t0002g0233 a0001c0002t0002g0239 a0001c0016t0008g0260 a0001c0020t0001g0115 a0003c0003t0002g0257 a0003c0003t0004g0251 a0007c0009t0001g0216	46	270	0.1704	48	c.934 others(63): Show c.934-334_934-333insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPFIA2_chr12_81252975_81764350	81642769	T T	TATATATT others(41): Show TATATATTATATACATACATGTACGTGTATGTATGTATTATATACATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	168	0.0060	48	c.303 others(67): Show c.303+34021_303+34022insGTATGTATATAATACATACATACACG TACATGTATGTATATAATATAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPIG_chr2_169579351_169646406	169598869	A A	ATATAAAT others(41): Show ATATAAATACAGGTAAATATATTTATATAAATACAGGTAAATATATTTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 NA18522.hp1 others(1): Show HG02258.hp2 HG03139.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0013 a0001c0007t0013 a0001c0001t0013 a0001c0007t0013	a0001c0001t0013g0027 a0001c0001t0013g0037 a0001c0007t0013g0028 others(1): Show a0001c0001t0013g0027 a0001c0001t0013g0037 a0001c0007t0013g0028 a0001c0007t0013g0029	4	382	0.0105	48	c.-69 others(65): Show c.-69-4748_-69-4747insATAAATACAGGTAAATATATTTGTATAA ATACAGGTAAATATATTTAT	PPIG	ENSG00000138398.17	transcript	ENST00000260970.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPM1L_chr3_160751231_161083902	160944956	C C	CATATATA others(41): Show CATATATATTATATATAACTATATATAACATATATATTATATATAACTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0022 a0001c0001t0033g0022	1	206	0.0049	48	c.400 others(67): Show c.400-16780_400-16779insATATATATTATATATAACTATATATA ACATATATATTATATATAACTA	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3			chr3	TogoVar
PPM1L_chr3_160751231_161083902	160945046	A A	ATTATATA others(41): Show ATTATATATAACTATATATAACATGTTATATATAACTATATATAACATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01433.hp2 others(4): Show HG01167.hp1 HG01169.hp1 HG01433.hp2 HG02818.hp2 HG02897.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0057 a0001c0001t0008g0061 others(4): Show a0001c0001t0008g0008 a0001c0001t0008g0057 a0001c0001t0008g0061 a0001c0001t0008g0099 a0001c0001t0008g0100 a0001c0001t0008g0101 a0001c0001t0008g0102	7	206	0.0340	48	c.400 others(67): Show c.400-16678_400-16631dupTATATATAACATGTTATATATAACTA TATATAACATGTTATATATAAC	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R14C_chr6_150138044_150255392	150198112	G G	GGTGGAGG others(41): Show GGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp2 HG02109.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0009 a0001c0001t0009 a0002c0002t0009	a0001c0001t0009g0006 a0002c0002t0009g0249 a0001c0001t0009g0006 a0002c0002t0009g0249	2	312	0.0064	48	c.307 others(67): Show c.307-16593_307-16592insGCCGCCACAGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTG	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150198156	T T	TCACGGTG others(41): Show TCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00733.hp1 others(27): Show HG00140.hp1 HG00280.hp1 HG00733.hp1 HG00738.hp2 HG01167.hp2 HG01175.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02109.hp1 HG02273.hp2 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 NA18959.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0013	a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0002g0034 others(27): Show a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0002g0034 a0001c0001t0003g0094 a0001c0001t0004g0117 a0001c0001t0004g0165 a0001c0001t0006g0238 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0008g0101 a0001c0001t0008g0176 a0001c0001t0012g0131 a0002c0002t0001g0074 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0229 a0002c0002t0001g0254 a0002c0002t0001g0259 a0002c0002t0001g0281 a0002c0002t0002g0183 a0002c0002t0004g0075 a0002c0002t0004g0182 a0002c0002t0004g0184 a0002c0002t0004g0257 a0002c0002t0013g0227 a0002c0002t0013g0264	30	312	0.0962	48	c.307 others(67): Show c.307-16544_307-16497dupGCCGCCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTG	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150198219	G G	GCCTGGAT others(41): Show GCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02074.hp2 HG02738.hp1 others(4): Show HG00423.hp2 HG02074.hp2 HG02738.hp1 HG03704.hp2 NA18612.hp2 NA18952.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0002c0002t0001	a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0003g0032 others(4): Show a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0003g0032 a0001c0001t0003g0067 a0001c0001t0003g0156 a0001c0001t0015g0064 a0002c0002t0001g0185	7	312	0.0224	48	c.307 others(67): Show c.307-16497_307-16496insGCCGCCACGGTGGAGGAGGACCTGGA TGCCCGGCTTTGTGTGCCCCTG	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R3F_chrX_49264793_49293090	49291316	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0001 a0004c0022t0001	a0004c0022t0001g0030 a0004c0022t0001g0030	1	288	0.0035	48	c.42 others(59): Show c.4226_*4227insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTGTCTG	PPP1R3F	ENSG00000049769.14	transcript	ENST00000055335.11	protein_coding		3227		chrX	TogoVar
PPP1R9A_chr7_94902594_95301400	95070593	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0002 a0007c0023t0002	a0007c0023t0002g0012 a0007c0023t0002g0012	1	290	0.0035	48	c.139 others(69): Show c.1396-40648_1396-40647insTATATATATATATATATGTGTATA TATATATATATATATATATATATA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95070610	T T	TATATATA others(41): Show TATATATATATATATATATGTATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0020 a0004c0005t0020	a0004c0005t0020g0203 a0004c0005t0020g0203	1	290	0.0035	48	c.139 others(69): Show c.1396-40648_1396-40647insTATATATATATATATATGTATATA TATATATATATATATATATATACA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R3A_chr3_135960728_136152894	136136073	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0103 a0002c0002t0005g0103	1	238	0.0042	48	c.333 others(67): Show c.3330-8970_3330-8969insAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATATAT	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	13/13			chr3	TogoVar
PPP2R5A_chr1_212280410_212366853	212322265	G G	GGAGGGAG others(41): Show GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18961.hp2 NA18943.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0281 a0001c0001t0001g0283	2	384	0.0052	48	c.182 others(65): Show c.182-6854_182-6853insGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGGAGAGG	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R5E_chr14_63366364_63548377	63430389	A A	ACATACAT others(41): Show ACATACATACATACATACATGCATGCATACATACATACATACATGCATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	252	0.0040	48	c.355 others(65): Show c.355-8296_355-8295insCATGCATGTATGTATGTATGTATGCATG CATGTATGTATGTATGTATG	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13			chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106373	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0174	1	192	0.0052	48	c.384 others(65): Show c.384+2580_384+2581insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP3CC_chr8_22436078_22546125	22489689	G G	GTATATAT others(41): Show GTATATATTATATATAAGTATATATTATATATTATATATAAGTATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp2 others(122): Show HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01169.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01978.hp1 HG02004.hp1 HG02056.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA19240.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018	a0001c0001t0002g0004 a0001c0001t0002g0085 a0001c0001t0002g0096 others(121): Show a0001c0001t0002g0004 a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0004g0094 a0001c0001t0004g0100 a0001c0001t0004g0191 a0001c0001t0004g0208 a0001c0001t0004g0248 a0001c0001t0004g0269 a0001c0001t0004g0296 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0045 a0001c0001t0005g0061 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0007g0250 a0001c0001t0007g0262 a0001c0001t0007g0278 a0001c0001t0007g0306 a0001c0001t0011g0062 a0001c0001t0011g0068 a0001c0001t0011g0084 a0001c0001t0013g0309 a0001c0001t0013g0313 a0001c0001t0014g0243 a0001c0001t0016g0282 a0001c0001t0017g0284 a0001c0001t0018g0235	125	326	0.3834	48	c.373 others(65): Show c.373-8298_373-8297insAAGTATATATTATATATTATATATAAGT ATATATTATATATTATATAT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPWD1_chr5_65558296_65592549	65578751	C C	CATATATG others(41): Show CATATATGTGTATATATATATACATATATATGTGTATATATATATACAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	384	0.0026	48	c.116 others(65): Show c.1161-653_1161-606dupTACATATATATGTGTATATATATATACA TATATATGTGTATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRAMEF8_chr1_13276304_13290137	13286146	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGCAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0006	1	332	0.0030	48	c.-10 others(59): Show c.-1076_-1075insCCCTGCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCT	PRAMEF8	ENSG00000182330.11	transcript	ENST00000357367.7	protein_coding		1010		chr1	TogoVar
PRAMEF8_chr1_13276304_13290137	13286218	T T	TGAAAGAA others(41): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	332	0.0030	48	c.-11 others(59): Show c.-1148_-1147insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	PRAMEF8	ENSG00000182330.11	transcript	ENST00000357367.7	protein_coding		1082		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165226	T T	TGGGCTCA others(41): Show TGGGCTCAGGGACGGTGACTCACCTGGGCTCAGAGACAGGGACTCACCA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0052	1	210	0.0048	48	c.38- others(65): Show c.38-20887_38-20886insGGTGACTCACCTGGGCTCAGAGACAGGG ACTCACCAGGGCTCAGGGAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165452	G G	GACAGGGA others(41): Show GACAGGGACTCACCTGGGCTCAGAGACAGGGACTCACCAGGGCTCAGGC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02602.hp2 NA18983.hp2 others(1): Show HG01346.hp1 HG02602.hp2 NA18983.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0070 a0001c0002t0001 a0001c0002t0018 a0001c0001t0070 a0001c0002t0001 a0001c0002t0018	a0001c0001t0070g0100 a0001c0002t0001g0208 a0001c0002t0001g0210 others(1): Show a0001c0001t0070g0100 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0018g0198	4	210	0.0191	48	c.38- others(65): Show c.38-20669_38-20668insGGACTCACCTGGGCTCAGAGACAGGGAC TCACCAGGGCTCAGGCACAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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