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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OMP_chr11_77097840_77108331	77098068	C C	CTCCCGGA others(173): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCACCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	440	0.0023	180	c.-47 others(191): Show c.-4772_-4771insTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCT	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4771		chr11	TogoVar
OMP_chr11_77097840_77108331	77098103	A A	ACCCCCCC others(173): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCTTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	440	0.0023	180	c.-47 others(191): Show c.-4737_-4736insCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4736		chr11	TogoVar
OMP_chr11_77097840_77108331	77098125	C C	CGGGGCGG others(173): Show CGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	440	0.0023	180	c.-47 others(191): Show c.-4715_-4714insGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4714		chr11	TogoVar
OPRL1_chr20_64075082_64105633	64088656	A A	AGGCCAGT others(173): Show AGGCCAGTATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGAGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	66	0.0152	180	c.-18 others(199): Show c.-184-3304_-184-3303insTATCTGTGCAGAGTGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAAGGAGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64088656	A A	AGGGCAGG others(173): Show AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTATGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTTGCAGGG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02897.hp2 HG02970.hp1 others(2): Show HG02165.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 a0001c0005t0006	a0001c0001t0002g0038 a0001c0001t0006g0002 a0001c0001t0020g0019 others(1): Show a0001c0001t0002g0038 a0001c0001t0006g0002 a0001c0001t0020g0019 a0001c0005t0006g0012	5	66	0.0758	180	c.-18 others(199): Show c.-184-3308_-184-3307insGCAGGATCTGTGCAGAGTGGCCAGGA TCTGTGCAGAGTGGCCAGGATCTATGCAGGGAGGGCAGGGTCTGTGCAGA GTGGCCAGGGTCTTTGCAGGGTGGCCAGGATCTGTGCAGGGAGGCCAGGA TCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGA GTGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(173): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATTTATAAATATAGATATATCTATATTTACATATATATATATAAATATAG ATATATCTATATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0402 a0001c0001t0009g0402	1	418	0.0024	180	c.553 others(195): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATTTATAAATATAGATATATCTATATTTACATATATATATATAAATAT AGATATATCTATATATATATTTATAAATATAGATATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR4K2_chr14_19870142_19888932	19872358	T T	TATACACA others(173): Show TATACACATATATATACCTATTTATATATACATACACATATATATACCTA TTTATATATACATACACATATATATACCTATTTATATATACATACACATA TATATACCTATTTATATATACATACACATATATATACCTATTTATATATA CATACACATATATATACCTATTTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(3): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG01258.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0015 a0001c0001t0112 others(1): Show a0001c0001t0005 a0001c0001t0015 a0001c0001t0112 a0002c0002t0011	a0001c0001t0005g0003 a0001c0001t0015g0003 a0001c0001t0112g0003 others(1): Show a0001c0001t0005g0003 a0001c0001t0015g0003 a0001c0001t0112g0003 a0002c0002t0011g0003	6	254	0.0236	180	c.-38 others(191): Show c.-3800_-3799insATACACATATATATACCTATTTATATATACATAC ACATATATATACCTATTTATATATACATACACATATATATACCTATTTAT ATATACATACACATATATATACCTATTTATATATACATACACATATATAT ACCTATTTATATATACATACACATATATATACCTATTTATATATAC	OR4K2	ENSG00000165762.3	transcript	ENST00000641885.1	protein_coding		2783		chr14	TogoVar
OR4K2_chr14_19870142_19888932	19872713	T T	TTATATAT others(173): Show TTATATATATATACACATATATATACCTATTTATATATATATACACATAT ATATACCTATTTATATATATATACACATATATATACCTATTTATATATAT ATACACATATATATACCTATTTATATATATATACACATATATATACCTAT TTTTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0004 a0004c0005t0050g0004	1	254	0.0039	180	c.-34 others(191): Show c.-3445_-3444insTATATATATATACACATATATATACCTATTTATA TATATATACACATATATATACCTATTTATATATATATACACATATATATA CCTATTTATATATATATACACATATATATACCTATTTATATATATATACA CATATATATACCTATTTTTATATATATATATATATATATATATATA	OR4K2	ENSG00000165762.3	transcript	ENST00000641885.1	protein_coding		2428		chr14	TogoVar
OR52N2_chr11_5803924_5826483	5812330	T T	TAAAAATA others(173): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01261.hp1 others(1): Show HG00733.hp1 HG00735.hp2 HG01261.hp1 HG02280.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0018 a0004c0005t0006g0041 a0004c0005t0006g0018 a0004c0005t0006g0041	4	402	0.0100	180	c.-55 others(197): Show c.-55+3281_-55+3282insTACAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AA	OR52N2	ENSG00000180988.3	transcript	ENST00000317037.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(173): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGAGGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGGAGAG AGAGGGAGAAAAGGAGAGGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0170 a0001c0009t0005g0170	1	186	0.0054	180	c.537 others(199): Show c.537+18643_537+18644insTCTCTCTCCCCCCCTCTCCTTTTCTC CCTCTCTCTCCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCT CTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCCTCCC CCCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGT CTCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(173): Show GGAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGA GGAGAGAGAGGGAGTAAAGGGGAGGGGGGGGAGAGAGAGACGGGGGGAGA GAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0181 a0001c0002t0006g0181	1	186	0.0054	180	c.537 others(199): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCCTCCCCTTTACTCCCTCTC TCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCC CCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGTC TCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(173): Show GGAGAGACGAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGA GGAGAGAGAGGGAGTAAAGGGGAGGGGGGGGAGAGAGAGACGGGGGGAGA GAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0104 a0002c0005t0002g0104	1	186	0.0054	180	c.537 others(199): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCCTCCCCTTTACTCCCTCTC TCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCC CCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTCGTC TCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OTOG_chr11_17542259_17651044	17552528	C C	CTCCCCCA others(173): Show CTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTT CTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTACTGTGTCCCCCACC TGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCC CACCTGTCCTGTGTCCCCCACCTGTCCTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0022 a0001c0060t0001g0022	1	268	0.0037	180	c.292 others(195): Show c.292+501_292+502insTCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RY8_chrX_1457581_1542185	1490818	G G	GCAAATGT others(173): Show GCAAATGTGGGGGGAATGAATGAATGATACCCCAGATTCACTTCTGCAAA TGTAGAGAGAATGAATGAATGATACCCAGATATTCCCTGCAAATGTGGGG GGAATGAATGAATGAATGATACCCCAGATTCACTTCTGCAAATGTAGAGA GAATGAATGAATGATACCCAGATATTCCCCA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0006 a0002c0002t0009g0006	1	114	0.0088	180	c.-24 others(199): Show c.-24-24416_-24-24237dupTGGGGAATATCTGGGTATCATTCATT CATTCTCTCTACATTTGCAGAAGTGAATCTGGGGTATCATTCATTCATTC ATTCCCCCCACATTTGCAGGGAATATCTGGGTATCATTCATTCATTCTCT CTACATTTGCAGAAGTGAATCTGGGGTATCATTCATTCATTCCCCCCACA TTTG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PADI4_chr1_17303197_17369004	17352036	G G	GAGGTGGG others(173): Show GAGGTGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGTGGGAAGAGAGG CAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGAT GGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGTAGGAGA GACTGTGGTCAGAGAGGTGATGGGAGGCAGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	372	0.0027	180	c.115 others(199): Show c.1156-2494_1156-2493insTGGGAGGAGAGGCGGCCAGGGAGGTG ATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGA GAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGG TGATGGGAGGTGGTAGGAGAGACTGTGGTCAGAGAGGTGATGGGAGGCAG TAGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAH_chr12_102831889_102922244	102835652	C C	CATACATA others(173): Show CATACATATATGTGCATACGTACATATGCATATACATATATGTGCATACG TACATATGCATATACATATATGTGCATACGTACATATGCATATACATATA TGTGCATACGTACATATGCATATACATATATGTGCATACGTACATATGCA TATACATATATGTGCATACGTACATATGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0215 a0001c0008t0018g0215	1	312	0.0032	180	c.35 others(191): Show c.3522_*3523insATGCATATGTACGTATGCACATATATGTATATGC ATATGTACGTATGCACATATATGTATATGCATATGTACGTATGCACATAT ATGTATATGCATATGTACGTATGCACATATATGTATATGCATATGTACGT ATGCACATATATGTATATGCATATGTACGTATGCACATATATGTAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1236		chr12	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(173): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGAG GGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAAGGAAGGGAAGGGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	302	0.0033	180	c.155 others(197): Show c.1551+378_1551+379insCTTCCCTCCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTTCCCTTCCCTTTCCCCCCCCTCTTCCCTTC CC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCCTCC others(173): Show CCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCCTCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0295 a0001c0001t0005g0295	1	308	0.0033	180	c.226 others(199): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCCTCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCTCCT CCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PASD1_chrX_151558675_151681739	151562914	G G	GGGGCGGG others(173): Show GGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGG GGGGCGGCGGGGGGCGGGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGGG CGGGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGG GCGGGGGGGGCGGGGGCGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0203 a0001c0002t0003g0203	1	221	0.0045	180	c.-95 others(189): Show c.-953_-952insGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGG GCAGCTGGGGCGGGGGGCGGCGGGGGGCGGGGGGGGGCGGGGGGCGGCGG GGGGCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGGGCG GGGGGGGCGGGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		760		chrX	TogoVar
PAX5_chr9_36828269_37039268	36973078	C C	CGGAACGG others(173): Show CGGAACGGAACGGAACGGAACGGAACGGAACGGAAAGGAACGGAAAGGAA CGGAACGGAACGGAACGGAACGGAACGGAACGGAACGGAAAGGAACGGAA CGGAACGGAAAGGAACGGAAAGGAACGGAAAGGAACGGAAAGGAACGGAA AGGAACGGAAAGGAACGGAAAGGAACGGAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0098 a0001c0002t0098	a0001c0002t0098g0096 a0001c0002t0098g0096	1	274	0.0037	180	c.605 others(197): Show c.605-6355_605-6354insTTTCCGTTCCTTTCCGTTCCTTTCCGTT CCTTTCCGTTCCTTTCCGTTCCTTTCCGTTCCTTTCCGTTCCTTTCCGTT CCGTTCCGTTCCTTTCCGTTCCGTTCCGTTCCGTTCCGTTCCGTTCCGTT CCGTTCCTTTCCGTTCCTTTCCGTTCCGTTCCGTTCCGTTCCGTTCCGTT CC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PCBP3_chr21_45638725_45947450	45746315	T T	TTGTCAGC others(173): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	292	0.0034	180	c.-16 others(199): Show c.-161-9058_-161-9057insGTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(173): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG04199.hp1 HG02273.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0204 a0001c0001t0001g0127 a0001c0001t0001g0204	2	292	0.0069	180	c.-16 others(199): Show c.-161-8942_-161-8763dupTTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAG TCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(173): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0023 a0001c0002t0004g0023	1	292	0.0034	180	c.-16 others(199): Show c.-161-9013_-161-9012insTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(173): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	292	0.0034	180	c.-16 others(199): Show c.-161-9013_-161-9012insTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(173): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	1	292	0.0034	180	c.-16 others(199): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGT AGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842848	A A	AGATAGAT others(173): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATGGATAGATGTATCTATCGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	180	c.-26 others(191): Show c.-2660_-2659insCATCGATAGATACATCTATCCATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2194		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(173): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	180	c.-26 others(191): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCNT_chr21_46319156_46450769	46413026	G G	GGGAGAGG others(173): Show GGGAGAGGCTGGACATGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACG AGGCCCACCCGGGAGAGGCTGGACATGCGGCAGCAAGGTGTGGGGAGCGG GGAAGGCACGAGGCCCCCCCCGGAGAGGCTGGACACGCGGCAGCAAGGTG TGGGGAGCGGGGAAGGCACGAGGCCCCCCCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0004 a0013c0014t0004	a0013c0014t0004g0332 a0013c0014t0004g0332	1	332	0.0030	180	c.615 others(195): Show c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAG GCACGAGGCCCACCCGGGAGAGGCTGGACATGCGGCAGCAAGGTGTGGGG AGCGGGGAAGGCACGAGGCCCCCCCCGGAGAGGCTGGACACGCGGCAGCA AGGTGTGGGGAGCGGGGAAGGCACGAGGCCCCCCCCGGAGAGGCTGGACA	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413082	A A	ACCCGGGA others(173): Show ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCGCGAGGTCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18999.hp2 NA18954.hp1 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0046 a0002c0002t0001g0036 a0002c0002t0001g0046	2	332	0.0060	180	c.615 others(197): Show c.6150+202_6150+203insAAGGCCCACCCGGGAGAGGCTGGACACG CGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAG GCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCA CCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGC AC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413139	C C	CCCCCCCC others(173): Show CCCCCCCCGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGA AGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGG GGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAG CAAGGTGTGGGGAGCGGGGAAGGCGCGAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0071 a0004c0071	a0004c0071t0001 a0004c0071t0001	a0004c0071t0001g0106 a0004c0071t0001g0106	1	332	0.0030	180	c.615 others(197): Show c.6150+149_6150+150insCCCCCGGAGAGGCTGGACACGCGGCAGC AAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGAC ACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGA GAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGT CC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413142	A A	ACCCGGGA others(173): Show ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCGCGAGGTCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01952.hp2 HG02027.hp2 others(21): Show HG00597.hp1 HG01952.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp1 HG02523.hp2 HG03654.hp2 HG03834.hp1 HG03927.hp1 NA18941.hp1 NA18943.hp1 NA18949.hp1 NA18975.hp1 NA18985.hp1 NA18985.hp2 NA18999.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19064.hp2 NA19077.hp1 NA20905.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0018 a0021 a0036 a0049 a0063 a0064	a0001c0001 a0002c0002 a0002c0022 others(9): Show a0001c0001 a0002c0002 a0002c0022 a0005c0017 a0005c0040 a0018c0031 a0018c0050 a0021c0037 a0036c0042 a0049c0077 a0063c0067 a0064c0045	a0001c0001t0001 a0002c0002t0001 a0002c0022t0001 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0022t0001 a0005c0017t0001 a0005c0040t0001 a0018c0031t0001 a0018c0050t0001 a0021c0037t0001 a0036c0042t0001 a0049c0077t0001 a0063c0067t0001 a0064c0045t0001	a0001c0001t0001g0283 a0002c0002t0001g0041 a0002c0002t0001g0052 others(21): Show a0001c0001t0001g0283 a0002c0002t0001g0041 a0002c0002t0001g0052 a0002c0002t0001g0138 a0002c0002t0001g0184 a0002c0002t0001g0191 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0022t0001g0247 a0002c0022t0001g0259 a0002c0022t0001g0305 a0005c0017t0001g0014 a0005c0017t0001g0022 a0005c0040t0001g0012 a0018c0031t0001g0064 a0018c0050t0001g0185 a0021c0037t0001g0189 a0021c0037t0001g0190 a0036c0042t0001g0187 a0049c0077t0001g0182 a0063c0067t0001g0316 a0064c0045t0001g0197	24	332	0.0723	180	c.615 others(197): Show c.6150+200_6150+201insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTC CCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAG GC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413142	A A	ACCCGGGA others(173): Show ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG TGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCGCGAGGTCCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02135.hp2 NA18612.hp2 HG02040.hp1 HG02135.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062	3	332	0.0090	180	c.615 others(197): Show c.6150+199_6150+200insTGCGAGGTCCCCCCGGGAGAGGCTGGAC ACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGA GAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGT CCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAA GG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413210	G G	GAGGCTGG others(173): Show GAGGCTGGACACGCGGCAGCAAGGTTTGGGGAGCGGGGAAGGCACGAGGC CCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAA GGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGG GAGCGGGGAAGGCACGAGGCCCACCCGGGAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG02622.hp2 HG03130.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0025 a0007c0005t0001g0033 a0007c0005t0001g0025 a0007c0005t0001g0033	2	332	0.0060	180	c.615 others(197): Show c.6150+231_6150+232insGGCAGCAAGGTTTGGGGAGCGGGGAAGG CACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAAAGGCTGGACAC GC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101360480	A A	ACACACTC others(173): Show ACACACTCCTGCCCAGGGGCCTTAGCATCCCCTGGAACACACCAGACACA CTCCTGCCCAGGGGCCTTAGCATCCCCTGGAACACACCAGGCACACTCCT GCCCGGGGGCCTTAGCATCCCCTGGAACACACCAGGCACACTCCTGCCCG GGGGCCTTAGCATCCCCTGGAACACACCAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0110 a0001c0036t0001g0110	1	336	0.0030	180	c.185 others(199): Show c.1858+5715_1858+5716insCCTGGTGTGTTCCAGGGGATGCTAAG GCCCCCGGGCAGGAGTGTGCCTGGTGTGTTCCAGGGGATGCTAAGGCCCC CGGGCAGGAGTGTGCCTGGTGTGTTCCAGGGGATGCTAAGGCCCCTGGGC AGGAGTGTGTCTGGTGTGTTCCAGGGGATGCTAAGGCCCCTGGGCAGGAG TGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21			chr15	TogoVar
PDCD6_chr5_266646_319974	293278	A A	ACGATACT others(173): Show ACGATACTGTCAGAGATGGAGAAAGGTATGATAGGAAGAGCAGATCAAGA AGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGT CAGAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAAC AGCACGAGGCACTGGGAGCTGCAAACGCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	360	0.0028	180	c.164 others(199): Show c.164-10869_164-10868insTAGGAAGAGCAGATCAAGAAGACGGG AACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGAT GGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGA GGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGATGGAGAAAGGT ATGA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	293393	G G	GTATGACA others(173): Show GTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGG GAGCTGCAAACGCCCGCGATACTGTCAGAGATGGAGAAAGGTATGACAGG AAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAA CGCCCGCGATACTGTCAGAGATGGAGAAAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03540.hp2 HG03041.hp1 HG03130.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0066 a0001c0001t0002g0008 a0001c0001t0002g0066	3	360	0.0083	180	c.164 others(199): Show c.164-10614_164-10613insTGGAGAAAGATATGACAGGAAGAGCA GATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGC GATACTGTCAGAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAG ACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCA GAGA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	293974	A A	AGGCACTG others(173): Show AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGATGGAGAAAGG TATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGG AGCTGCAAACGCCCGTGATACTGTCAGAGATGGAGAAAGGTATGACAGGA AGAGCAGATCAAGAAGACGGGAACAGCACGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01070.hp2 others(36): Show HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01346.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02132.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02735.hp2 HG02886.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03669.hp2 HG06807.hp2 NA18906.hp1 NA18965.hp2 NA18970.hp2 NA18983.hp2 NA19012.hp2 NA19030.hp1 NA19240.hp2 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0003c0005 a0002c0003 a0002c0004 a0003c0005	a0002c0003t0001 a0002c0004t0002 a0002c0004t0003 others(1): Show a0002c0003t0001 a0002c0004t0002 a0002c0004t0003 a0003c0005t0004	a0002c0003t0001g0274 a0002c0003t0001g0277 a0002c0003t0001g0278 others(35): Show a0002c0003t0001g0274 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0004t0002g0269 a0002c0004t0003g0265 a0002c0004t0003g0266 a0002c0004t0003g0267 a0002c0004t0003g0268 a0002c0004t0003g0275 a0002c0004t0003g0276 a0002c0004t0003g0280 a0002c0004t0003g0281 a0002c0004t0003g0282 a0002c0004t0003g0290 a0002c0004t0003g0298 a0003c0005t0004g0020 a0003c0005t0004g0305 a0003c0005t0004g0306 a0003c0005t0004g0307 a0003c0005t0004g0308 a0003c0005t0004g0309	39	360	0.1083	180	c.164 others(199): Show c.164-10164_164-10163insTGGAGAAAGGTATGACAGGAAGAGCA GATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGT GATACTGTCAGAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAG ACGGGAACAGCACGGGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCA GAGA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	293974	A A	AGGCACTG others(173): Show AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGATGGAGAAAGG TATGACAGGAAGAGCAGATCAAGAAGATGGGAACAGCACGAGGCACTGGG AGCTGCAAACGCCCGCGATACTGTCAGAGATGGAGAAAGGTATGACAGGA AGAGCAGATCAAGAAGACGGGAACAGCATGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG03130.hp1 others(2): Show HG02145.hp1 HG03041.hp1 HG03130.hp1 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0065 a0001c0001t0002g0066 others(1): Show a0001c0001t0002g0008 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0080	5	360	0.0139	180	c.164 others(199): Show c.164-10164_164-10163insTGGAGAAAGGTATGACAGGAAGAGCA GATCAAGAAGATGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGC GATACTGTCAGAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAG ACGGGAACAGCATGGGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCA GAGA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE11A_chr2_177618244_178077777	177946991	C C	CGCCCCGT others(173): Show CGCCCCGTCCGGGAAGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18942.hp1 HG02040.hp1 NA18942.hp1	a0002 a0009 a0002 a0009	a0002c0020 a0009c0018 a0002c0020 a0009c0018	a0002c0020t0001 a0009c0018t0001 a0002c0020t0001 a0009c0018t0001	a0002c0020t0001g0108 a0009c0018t0001g0112 a0002c0020t0001g0108 a0009c0018t0001g0112	2	170	0.0118	180	c.107 others(201): Show c.1072-41805_1072-41804insAGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCTTCCCGGA CGGGGC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(173): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGCTACACGTAT ACATACACGTGTATGTACAGATACACGTATACATACACGTGTATGTACAG ATACACGTATACATACACGTGTATGTACAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp1 HG01261.hp2 HG00140.hp2 HG01071.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0008g0057 a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0008g0057	3	74	0.0405	180	c.648 others(197): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTATCTGTACATACACGTGTA TGTATACGTGTAGCTGTACATACACGTGTATGTATACGTGTAGCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(173): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGCTACACGTAT ACATACACGTGTATGTACAGCTACACGTATACATACACGTGTATGTACAG ATACACGTATACATACACGTGTATGTACAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	74	0.0135	180	c.648 others(197): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTAGCTGTACATACACGTGTA TGTATACGTGTAGCTGTACATACACGTGTATGTATACGTGTAGCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDIA2_chr16_278164_292215	285902	T T	TCCCAACC others(173): Show TCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCAACCCCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0060 a0006c0013t0001g0060	1	436	0.0023	180	c.111 others(197): Show c.1119+214_1119+215insAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDSS2_chr6_107147562_107464564	107402455	T T	TATATATA others(173): Show TATATATACGTATATATATGTATACATATATATACGTATATATATGTATA CATATATATACGTATATATGTATACATATATATACGTATATATGTGTATA CATATATATACGTATATATGTATACATATATATACGTATATATGTATACA TATATATACGTATATGTATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	260	0.0039	180	c.296 others(199): Show c.296+56534_296+56535insGTATACATATATATACATATACGTAT ATATATGTATACATATATACGTATATATATGTATACATATATACGTATAT ATATGTATACACATATATACGTATATATATGTATACATATATACGTATAT ATATGTATACATATATATACGTATATATATGTATACATATATATACGTAT ATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PERM1_chr1_970198_987093	976943	C C	CCCCGGGA others(173): Show CCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCC CCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCA ACCCCGAGAACCGCCTCCCACGACCCCCAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00642.hp1 others(30): Show HG00140.hp1 HG00438.hp1 HG00642.hp1 HG00733.hp2 HG01099.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02738.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04228.hp2 NA18944.hp1 NA18947.hp2 NA18987.hp1 NA18999.hp1 NA19004.hp1 NA19011.hp2 NA19075.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0011 others(10): Show a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0049 a0002c0002t0002g0240 a0002c0002t0002g0243 a0002c0002t0002g0250 a0002c0002t0002g0253 a0002c0002t0002g0255 a0002c0002t0002g0257 a0002c0002t0002g0258	33	408	0.0809	180	c.215 others(197): Show c.2150-320_2150-319insATTGGGGGTCGTGGGAGGCGGTTCTCGG GGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGG CGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGG TGGGGGCAGGCGGTTCCCGGGGTTGCGCGGGGAGCGGGAGGCGGTTCCCG GG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKP_chr10_3062548_3141802	3106698	C C	CTCACCCC others(173): Show CTCACCCCCTGCCCCTCTCCTCACCCCCTGCCCCTCTCCTCACCCCTGCC CCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCA CCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTT CACACCTGCCCCTCTCCTCGCCCCTGCCGCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0172 a0001c0007t0005g0172	1	402	0.0025	180	c.775 others(195): Show c.775-509_775-508insCTGCCCCTCTCCTCACCCCCTGCCCCTCTC CTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCC CCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCA CCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP6_chr16_365788_386978	378204	C C	CCGCACTG others(173): Show CCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCTGACTGCCATCG CCACCCACACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCC ATCCCCACCCGCACTGACATCGCCACCCGCACTGCCATCGCCACCCGCAC TGCCATCGCCACCCGCACTGCCATCGCCACT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01243.hp2 others(1): Show HG01099.hp1 HG01192.hp2 HG01243.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	4	376	0.0106	180	c.122 others(195): Show c.122-357_122-356insAGTGGCGATGGCAGTGCGGGTGGCGATGGC AGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGTCAGTGCGGGTGGGGA TGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGTGGGTG GCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGAP6_chr16_365788_386978	378204	C C	CCGCACTG others(173): Show CCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCTGACTGCCATCG CCACCCACACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCC ATCCCCACCCGCACTGACATCGCCACCCGCACTGCCATCGCTACCCGCAC TGCCATCGCCACCCGCACTGCCATCGCCACT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0172 a0002c0002t0003g0172	1	376	0.0027	180	c.122 others(195): Show c.122-357_122-356insAGTGGCGATGGCAGTGCGGGTGGCGATGGC AGTGCGGGTAGCGATGGCAGTGCGGGTGGCGATGTCAGTGCGGGTGGGGA TGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGTGGGTG GCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PHACTR3_chr20_59599540_59852711	59821975	G G	GCAGCGAT others(173): Show GCAGCGATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCC CACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCC CCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCC CACCCCTTCCCCAGCGATCCCACCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18962.hp2 NA18954.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0136 a0001c0001t0005g0030 a0001c0001t0003g0136 a0001c0001t0005g0030	2	250	0.0080	180	c.132 others(201): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21B_chr22_44876162_45015005	44883981	C C	CCACCATC others(173): Show CCACCATCACCACCACCATGATCACCATTATCACCACCGCCACCACCATC ACTGTGATCAGCACCATCACCACCACCATGATCACCATTATCACCACCGC CACCACCATCACTGTGATCAGCACCATCACCACCACCATGATCACCATTA TCACCACCGCCACCACCATCACTGTGATCAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0228 a0001c0002t0006g0228	1	300	0.0033	180	c.137 others(197): Show c.1378-678_1378-677insCTGATCACAGTGATGGTGGTGGCGGTGG TGATAATGGTGATCATGGTGGTGGTGATGGTGCTGATCACAGTGATGGTG GTGGCGGTGGTGATAATGGTGATCATGGTGGTGGTGATGGTGCTGATCAC AGTGATGGTGGTGGCGGTGGTGATAATGGTGATCATGGTGGTGGTGATGG TG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12			chr22	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCCT others(173): Show CCCCCCCTCCCCTCCCCCATCCCCCTCCCACTCCGCTCGCCTCCCCTCCC CCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCAT CCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCTCCCCTC CCCTCCCCCCTTCCCCTCCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	320	0.0031	180	c.218 others(199): Show c.2189+2324_2189+2325insCCTCCCCTCCCCCATCCCCCTCCCAC TCCGCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCC TCTCCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTC CCCTCCCCCCTCTCCCCTCCCCTCCCCCCTTCCCCTCCCCCTCCCCCCTT CCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar

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