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
OR2T11_chr1_248618557_248640091	248637507	AATACAGA others(107): Show AATACAGACAGACAGGCAGGACTCATGATCACAGGTTAACAATAGAGACA GGCAGGACTCAATCACGTGTTAGCAATACAGACAGGCAGGACCCATGATC ACACGTTAGCAATAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0073 a0004c0004t0007g0073	1	312	0.0032	-114	c.-27 others(11): Show c.-2728_-2615del		OR2T11	ENSG00000279301.5	transcript	ENST00000641193.1	protein_coding					2417		chr1	TogoVar
OR2T11_chr1_248618557_248640091	248637509	TACAGACA others(107): Show TACAGACAGACAGGCAGGACTCATGATCACAGGTTAACAATAGAGACAGG CAGGACTCAATCACGTGTTAGCAATACAGACAGGCAGGACCCATGATCAC ACGTTAGCAATACAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02145.hp2 others(5): Show HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp2 HG02615.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 others(2): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0003c0003t0009 a0004c0004t0007	a0001c0001t0010g0022 a0001c0001t0011g0023 a0001c0001t0012g0075 others(3): Show a0001c0001t0010g0022 a0001c0001t0011g0023 a0001c0001t0012g0075 a0003c0003t0009g0076 a0003c0003t0009g0077 a0004c0004t0007g0074	8	15	0.5333	-114	c.-27 others(11): Show c.-2730_-2617del		OR2T11	ENSG00000279301.5	transcript	ENST00000641193.1	protein_coding					2419		chr1	TogoVar
OR2T35_chr1_248631356_248650278	248637507	AATACAGA others(107): Show AATACAGACAGACAGGCAGGACTCATGATCACAGGTTAACAATAGAGACA GGCAGGACTCAATCACGTGTTAGCAATACAGACAGGCAGGACCCATGATC ACACGTTAGCAATAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0097 a0001c0003t0022g0097	1	308	0.0032	-114	c.66 others(9): Show c.666_*779del		OR2T35	ENSG00000177151.5	transcript	ENST00000641268.1	protein_coding	2/2				666		chr1	TogoVar
OR2T35_chr1_248631356_248650278	248637509	TACAGACA others(107): Show TACAGACAGACAGGCAGGACTCATGATCACAGGTTAACAATAGAGACAGG CAGGACTCAATCACGTGTTAGCAATACAGACAGGCAGGACCCATGATCAC ACGTTAGCAATACAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02145.hp2 others(5): Show HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp2 HG02615.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0004 a0003c0004t0004 a0003c0004t0014 a0001c0003t0004 a0003c0004t0004 a0003c0004t0014	a0001c0003t0004g0019 a0001c0003t0004g0096 a0003c0004t0004g0028 others(1): Show a0001c0003t0004g0019 a0001c0003t0004g0096 a0003c0004t0004g0028 a0003c0004t0014g0029	8	14	0.5714	-114	c.66 others(9): Show c.664_*777del		OR2T35	ENSG00000177151.5	transcript	ENST00000641268.1	protein_coding	2/2				664		chr1	TogoVar
OVGP1_chr1_111409319_111432735	111414887	CTGATGAC others(107): Show CTGATGACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCT TTTCCCCAGGGGTCACAGACTGATAACCCACAGAGGTCAGGGTCTTCTGT CCAGTGGTCACAGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA21309.hp1 NA21309.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0066 a0013c0014t0001g0066	1	422	0.0024	-114	c.150 others(9): Show c.1500_1613del	p.Ser others(13): Show p.Ser501_Gln538del	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding	11/11	1627/2196	1500/2037	500/678			chr1	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(107): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01928.hp1 others(8): Show HG00544.hp1 HG00609.hp1 HG01928.hp1 HG02040.hp1 HG02074.hp1 HG02165.hp1 HG03704.hp1 HG04184.hp2 NA18948.hp1 NA18970.hp1 NA18971.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0008 a0002c0002 a0003c0008	a0002c0002t0003 a0002c0002t0007 a0002c0002t0048 others(1): Show a0002c0002t0003 a0002c0002t0007 a0002c0002t0048 a0003c0008t0001	a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 others(8): Show a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0007g0025 a0002c0002t0048g0021 a0003c0008t0001g0022	11	320	0.0344	-114	c.462 others(14): Show c.462+71_462+184del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744759	GGGGGTCG others(107): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA20905.hp1 HG02004.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0022 a0001c0001t0014 a0001c0001t0022	a0001c0001t0014g0061 a0001c0001t0022g0049 a0001c0001t0014g0061 a0001c0001t0022g0049	2	287	0.0070	-114	c.462 others(14): Show c.462+93_462+206del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744781	TTCGCCGT others(107): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGC	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0020 a0001c0001t0035g0020	1	202	0.0050	-114	c.462 others(14): Show c.462+93_462+206del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10						chr4	TogoVar
PCGF3_chr4_700832_775089	744781	TTCGCCGT others(107): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18944.hp1 NA18957.hp2 others(2): Show HG03942.hp1 NA18944.hp1 NA18957.hp2 NA18968.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0030 a0001c0001t0042 others(2): Show a0001c0001t0006 a0001c0001t0030 a0001c0001t0042 a0001c0003t0015 a0001c0003t0032	a0001c0001t0006g0007 a0001c0001t0030g0108 a0001c0001t0042g0294 others(2): Show a0001c0001t0006g0007 a0001c0001t0030g0108 a0001c0001t0042g0294 a0001c0003t0015g0089 a0001c0003t0032g0100	5	206	0.0243	-114	c.462 others(15): Show c.462+150_462+263del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(107): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	339	0.0029	-114	c.462 others(15): Show c.462+299_462+412del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745214	CGGGGTCG others(107): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	299	0.0033	-114	c.462 others(15): Show c.462+605_462+718del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745385	GGGGGTCG others(107): Show GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03239.hp1 HG04228.hp1 others(2): Show HG00741.hp1 HG03239.hp1 HG04228.hp1 NA18970.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0005	a0001c0001t0002g0157 a0001c0001t0002g0166 a0001c0001t0002g0328 others(2): Show a0001c0001t0002g0157 a0001c0001t0002g0166 a0001c0001t0002g0328 a0001c0001t0002g0340 a0001c0003t0005g0322	5	337	0.0148	-114	c.462 others(15): Show c.462+722_462+835del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745410	TCCGTGGA others(107): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00609.hp2 others(19): Show HG00408.hp1 HG00438.hp1 HG00609.hp2 HG01255.hp2 HG01433.hp2 HG01517.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG03486.hp2 NA18522.hp1 NA18942.hp1 NA18950.hp1 NA18954.hp2 NA18960.hp2 NA18983.hp2 NA19000.hp2 NA19011.hp2 NA19012.hp1 NA19067.hp1 NA19240.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0057 a0001c0003t0005 a0002c0002t0002	a0001c0001t0001g0158 a0001c0001t0002g0148 a0001c0001t0002g0149 others(19): Show a0001c0001t0001g0158 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0178 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0320 a0001c0001t0002g0329 a0001c0001t0002g0359 a0001c0001t0003g0162 a0001c0001t0003g0316 a0001c0001t0008g0317 a0001c0001t0008g0345 a0001c0001t0013g0172 a0001c0001t0057g0346 a0001c0003t0005g0325 a0002c0002t0002g0323	22	286	0.0769	-114	c.462 others(15): Show c.462+811_462+924del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745670	GGGGGTCG others(107): Show GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18612.hp1 NA18982.hp1 others(1): Show HG02071.hp1 NA18612.hp1 NA18982.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0033 a0001c0001t0035 a0001c0001t0003 a0001c0001t0033 a0001c0001t0035	a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0033g0027 others(1): Show a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0033g0027 a0001c0001t0035g0020	4	344	0.0116	-114	c.462 others(17): Show c.462+1004_462+1117del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745695	TCCGTGGA others(107): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGTTCG	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	294	0.0034	-114	c.462 others(17): Show c.462+1064_462+1177del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746068	CCGGGGTC others(107): Show CCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18971.hp2 NA19007.hp1 NA18962.hp2 NA18971.hp2 NA19007.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0023 a0001c0001t0001g0026 a0003c0008t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0003c0008t0001g0022	3	363	0.0083	-114	c.462 others(17): Show c.462+1381_462+1494del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10						chr4	TogoVar
PCGF3_chr4_700832_775089	746523	CGGGGTCG others(107): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0338 a0002c0002t0002g0338	1	272	0.0037	-114	c.462 others(17): Show c.462+2063_462+2176del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746862	CCCCGGGG others(107): Show CCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02135.hp2 HG02257.hp1 others(5): Show HG00544.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0004t0020	a0001c0001t0003g0196 a0001c0001t0004g0004 a0001c0001t0004g0357 others(5): Show a0001c0001t0003g0196 a0001c0001t0004g0004 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0004t0020g0120	8	363	0.0220	-114	c.462 others(17): Show c.462+2182_462+2295del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746865	CGGGGGTC others(107): Show CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCC	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0033 a0002c0002t0003g0033	1	312	0.0032	-114	c.462 others(17): Show c.462+2182_462+2295del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746922	CGGGGGTC others(107): Show CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03130.hp1 HG02129.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0007 a0001c0001t0004 a0002c0002t0007	a0001c0001t0004g0121 a0002c0002t0007g0300 a0001c0001t0004g0121 a0002c0002t0007g0300	2	359	0.0056	-114	c.462 others(17): Show c.462+2239_462+2352del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747232	GCCGTGGA others(107): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0349 a0001c0001t0008g0349	1	361	0.0028	-114	c.462 others(17): Show c.462+2576_462+2689del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747571	TTCGCCGT others(107): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG03453.hp1 others(1): Show HG00639.hp2 HG01361.hp2 HG03453.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0063 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0063 a0002c0002t0049	a0001c0001t0007g0073 a0001c0001t0008g0269 a0001c0001t0063g0064 others(1): Show a0001c0001t0007g0073 a0001c0001t0008g0269 a0001c0001t0063g0064 a0002c0002t0049g0066	4	274	0.0146	-114	c.462 others(17): Show c.462+2918_462+3031del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDXK_chr21_43714129_43767299	43741212	GGGGGGCT others(107): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	356	0.0028	-114	c.143 others(15): Show c.143-449_143-336del		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31849881	TATATATA others(107): Show TATATATACACATATATATATATACATATATATATATACATATATATATA TACACATATATATATATACATATATATATATACACATATATATATATACA TATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp1 others(38): Show HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01361.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02080.hp1 HG02135.hp1 HG02257.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG03098.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18962.hp1 NA18973.hp1 NA18979.hp1 NA18989.hp1 NA19000.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0008 a0012 a0013 a0026 a0033 a0035	a0001c0001 a0001c0005 a0001c0007 others(13): Show a0001c0001 a0001c0005 a0001c0007 a0001c0034 a0001c0036 a0002c0002 a0002c0003 a0002c0012 a0003c0004 a0003c0008 a0008c0020 a0012c0025 a0013c0037 a0026c0046 a0033c0058 a0035c0061	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0044 a0001c0005t0001 a0001c0005t0003 a0001c0007t0009 a0001c0034t0019 a0001c0036t0019 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0025 a0002c0003t0002 a0002c0003t0005 a0002c0003t0020 a0002c0012t0002 a0002c0012t0003 a0003c0004t0001 a0003c0004t0004 a0003c0004t0005 a0003c0004t0042 a0003c0008t0006 a0003c0008t0012 a0008c0020t0001 a0012c0025t0001 a0013c0037t0001 a0026c0046t0014 a0033c0058t0001 a0035c0061t0016	a0001c0001t0001g0037 a0001c0001t0001g0173 a0001c0001t0002g0114 others(38): Show a0001c0001t0001g0037 a0001c0001t0001g0173 a0001c0001t0002g0114 a0001c0001t0002g0156 a0001c0001t0003g0009 a0001c0001t0004g0208 a0001c0001t0005g0010 a0001c0001t0006g0109 a0001c0001t0020g0019 a0001c0001t0044g0006 a0001c0005t0001g0162 a0001c0005t0003g0014 a0001c0007t0009g0067 a0001c0034t0019g0212 a0001c0036t0019g0211 a0002c0002t0001g0115 a0002c0002t0001g0159 a0002c0002t0003g0021 a0002c0002t0006g0194 a0002c0002t0025g0108 a0002c0003t0002g0048 a0002c0003t0002g0131 a0002c0003t0005g0016 a0002c0003t0005g0018 a0002c0003t0005g0029 a0002c0003t0020g0033 a0002c0012t0002g0117 a0002c0012t0003g0011 a0003c0004t0001g0047 a0003c0004t0004g0195 a0003c0004t0005g0031 a0003c0004t0042g0026 a0003c0008t0006g0148 a0003c0008t0012g0020 a0003c0008t0012g0030 a0008c0020t0001g0072 a0012c0025t0001g0164 a0013c0037t0001g0166 a0026c0046t0014g0080 a0033c0058t0001g0174 a0035c0061t0016g0077	41	175	0.2343	-114	c.476 others(19): Show c.476+50165_476+50278del		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PERM1_chr1_970198_987093	977756	CACCAACC others(107): Show CACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCT CCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGG AACTGCCTCCCACCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp1 HG02622.hp1 others(2): Show HG00642.hp2 HG02451.hp1 HG02622.hp1 HG02965.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0002g0023 a0004c0004t0001g0047 a0001c0001t0002g0023 a0004c0004t0001g0047	5	406	0.0123	-114	c.214 others(19): Show c.2149+1011_2149+1124del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PHRF1_chr11_571470_617222	576745	GCTGGGAG others(107): Show GCTGGGAGGCCCCGCCGAGACTGGGAGGCCCCGCCGAGACTGGGAGGCCC CGCCGAGACTGGGAGGCCCCGCCGAGACTGGGAGGCCCCGCCGAGACTGG GAGGCCCCGCCGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(34): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01975.hp2 HG02015.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp2 HG02723.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG04204.hp1 NA18967.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0023	a0001c0003 a0001c0006 a0003c0004 others(2): Show a0001c0003 a0001c0006 a0003c0004 a0004c0005 a0023c0024	a0001c0003t0002 a0001c0003t0008 a0001c0006t0002 others(3): Show a0001c0003t0002 a0001c0003t0008 a0001c0006t0002 a0003c0004t0003 a0004c0005t0002 a0023c0024t0002	a0001c0003t0002g0024 a0001c0003t0002g0028 a0001c0003t0002g0029 others(33): Show a0001c0003t0002g0024 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0008g0051 a0001c0006t0002g0038 a0001c0006t0002g0058 a0003c0004t0003g0027 a0004c0005t0002g0003 a0004c0005t0002g0025 a0004c0005t0002g0033 a0004c0005t0002g0034 a0004c0005t0002g0035 a0004c0005t0002g0036 a0004c0005t0002g0043 a0004c0005t0002g0044 a0023c0024t0002g0026	37	77	0.4805	-114	c.-22 others(15): Show c.-22+222_-22+335del		PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr11	TogoVar
PID1_chr2_229018973_229276287	229139001	AAGAAAGA others(107): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03927.hp2 HG01433.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0155 a0001c0001t0003g0089 a0001c0001t0001g0155 a0001c0001t0003g0089	2	254	0.0079	-114	c.177 others(19): Show c.177+16703_177+16816del		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2						chr2	TogoVar
PLCG2_chr16_81774291_81967685	81865909	AGCTCCAC others(107): Show AGCTCCACTGGGGCACCAGCATGAGAGGACGCTGGCCTCTCCCTTTCTCC CAGGATGGGCTCCACTGGGGCACCAGCGTGAGAGGACGCTGGCCTCTCCC TTTCTCCCAGGATGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0017 a0001c0017t0005g0017	1	328	0.0030	-114	c.480 others(17): Show c.480-3260_480-3147del		PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	5/32					INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCG2_chr16_81774291_81967685	81866028	CACTGGGG others(107): Show CACTGGGGCACCAGCATGAGAGGACGCTGGCCTCTCCCTTGCTCCCAGGA TGGGCTCCACTGGGCACCAGCATGAGAGGATGCTGGTCTCTCCCTTGCTC CCAGGGTGAGCTCCA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01884.hp2 HG02055.hp1 others(10): Show HG01515.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02965.hp2 HG03130.hp2 HG03471.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0016 others(7): Show a0001c0002 a0001c0004 a0001c0016 a0001c0022 a0001c0023 a0001c0025 a0001c0031 a0001c0038 a0001c0063 a0001c0070	a0001c0002t0056 a0001c0004t0023 a0001c0016t0039 others(7): Show a0001c0002t0056 a0001c0004t0023 a0001c0016t0039 a0001c0022t0067 a0001c0023t0005 a0001c0025t0031 a0001c0031t0005 a0001c0038t0040 a0001c0063t0007 a0001c0070t0037	a0001c0002t0056g0101 a0001c0004t0023g0103 a0001c0004t0023g0135 others(10): Show a0001c0002t0056g0101 a0001c0004t0023g0103 a0001c0004t0023g0135 a0001c0016t0039g0091 a0001c0022t0067g0219 a0001c0023t0005g0005 a0001c0023t0005g0098 a0001c0025t0031g0006 a0001c0031t0005g0168 a0001c0031t0005g0170 a0001c0038t0040g0093 a0001c0063t0007g0174 a0001c0070t0037g0243	13	328	0.0396	-114	c.480 others(17): Show c.480-3134_480-3021del		PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	5/32					INFO_REALIGN_3_PRIME	chr16	TogoVar
PLD5_chr1_242077986_242529697	242394613	TATATATG others(107): Show TATATATGTGTATATATGTGAACATATATATGTGTATATATGTGAACATA TATATGTGTATATATGTGAACATATATGTGTATATATGTGAACATATATG TGTATATATGTGAAC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	183	0.0055	-114	c.190 others(19): Show c.190-46485_190-46372del		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9						chr1	TogoVar
PLEKHN1_chr1_961482_980865	977756	CACCAACC others(107): Show CACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCT CCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGG AACTGCCTCCCACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02451.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0008 a0001c0010 a0002c0008	a0001c0010t0007 a0002c0008t0020 a0001c0010t0007 a0002c0008t0020	a0001c0010t0007g0074 a0002c0008t0020g0022 a0001c0010t0007g0074 a0002c0008t0020g0022	2	420	0.0048	-114	c.31 others(11): Show c.3182_*3295del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1892		chr1	TogoVar
PNPLA3_chr22_43918805_43952582	43948815	TGGAGTAG others(107): Show TGGAGTAGAAGAACCAGCAAGCTCAGACAAAGCACTTGACTGAGAAGACA GACCCTTTAAAGGAAACGGGTTCTAGGGACAAACTCTACGTGGGCCTGTT CTCTTGATAAGACCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0143 a0002c0002t0008g0143	1	418	0.0024	-114	c.24 others(11): Show c.2434_*2547del		PNPLA3	ENSG00000100344.11	transcript	ENST00000216180.8	protein_coding					1234		chr22	TogoVar
PNPLA7_chr9_137454952_137555402	137485270	AGAGTAAA others(107): Show AGAGTAAACCAGACAAACGCTGCAGGTGAGGCCTCATCGGAGTAAACCAG ACAAACGCTGCAGGTAAGGCCTCACTGGAGTAAACCAGACAAACGCTGCA GGTGAGGCCTCATCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG02109.hp2 others(13): Show HG01106.hp2 HG01123.hp1 HG02109.hp2 HG02280.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2	a0001 a0005 a0009 others(5): Show a0001 a0005 a0009 a0012 a0013 a0018 a0025 a0028	a0001c0027 a0005c0007 a0005c0053 others(7): Show a0001c0027 a0005c0007 a0005c0053 a0009c0013 a0009c0030 a0012c0019 a0013c0016 a0018c0051 a0025c0044 a0028c0052	a0001c0027t0001 a0005c0007t0001 a0005c0053t0001 others(7): Show a0001c0027t0001 a0005c0007t0001 a0005c0053t0001 a0009c0013t0001 a0009c0030t0001 a0012c0019t0001 a0013c0016t0003 a0018c0051t0003 a0025c0044t0001 a0028c0052t0001	a0001c0027t0001g0169 a0005c0007t0001g0018 a0005c0007t0001g0019 others(13): Show a0001c0027t0001g0169 a0005c0007t0001g0018 a0005c0007t0001g0019 a0005c0007t0001g0181 a0005c0007t0001g0182 a0005c0053t0001g0132 a0009c0013t0001g0151 a0009c0013t0001g0163 a0009c0030t0001g0124 a0012c0019t0001g0020 a0012c0019t0001g0022 a0013c0016t0003g0064 a0013c0016t0003g0135 a0018c0051t0003g0096 a0025c0044t0001g0102 a0028c0052t0001g0154	16	185	0.0865	-114	c.219 others(17): Show c.2198-648_2198-535del		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34						chr9	TogoVar
PPA1_chr10_70197835_70238429	70220625	ATATATAT others(107): Show ATATATATATAATATATATAATTTATATATATATTATATATAATTTATAT ATATATAATATATATAATTTATATATATATAATATATATAATTTATATAT ATAATATATATAATT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	320	0.0031	-114	c.124 others(17): Show c.124-1922_124-1809del		PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10						chr10	TogoVar
PPP2R2C_chr4_6315581_6477614	6353786	CCCCACAC others(107): Show CCCCACACACCAACAGCGCCCCCACACCGACAGCCCCCAACACCGACAGC CCCCAACACCGACAGCCGCCCCACACCGACAGCCCCCCCACACCGACAGC CCCCAACACCGACAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02083.hp2 HG02257.hp1 others(5): Show HG01081.hp2 HG02083.hp2 HG02257.hp1 HG02735.hp1 HG02886.hp2 HG04228.hp1 NA18944.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0006t0008	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0069 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0069 a0001c0001t0002g0108 a0001c0001t0002g0197 a0001c0001t0002g0206 a0001c0002t0003g0043 a0001c0006t0008g0063	8	296	0.0270	-114	c.626 others(17): Show c.626-5890_626-5777del		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8						chr4	TogoVar
PRKCA_chr17_66297613_66815743	66798584	GTGGTGGT others(107): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0083 a0001c0002t0083	a0001c0002t0083g0138 a0001c0002t0083g0138	1	166	0.0060	-114	c.185 others(19): Show c.1855-5277_1855-5164del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKN_chr6_161342417_162732766	161350745	TATTTTTA others(107): Show TATTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTATAT TTAAAATATATATATTTTTATATATTTATATTTAAAATATATATATTTTT ATATATTTATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0008 a0002c0002t0007g0008	1	32	0.0313	-114	c.128 others(17): Show c.1286-648_1286-535del		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11						chr6	TogoVar
PRSS35_chr6_83507534_83530704	83509220	TTTGGGGG others(107): Show TTTGGGGGAACACATCATTGCATTTCCTTGGGCCACCCAGAAAGATAGAG AAAGCCAATGGTTTTGCAGGTTTGTGGAGCACCAGCAACTGTTCCTCAAA TTAGCAGATCATAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp1 others(26): Show HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02559.hp1 HG03017.hp2 HG03492.hp1 HG03834.hp1 NA18612.hp1 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18979.hp2 NA18988.hp2 NA19058.hp1 NA19072.hp1 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0002t0001g0002	29	438	0.0662	-114	c.-34 others(11): Show c.-3494_-3381del		PRSS35	ENSG00000146250.7	transcript	ENST00000369700.4	protein_coding					3313		chr6	TogoVar
PTGR1_chr9_111557567_111604647	111560996	GAGAGAGA others(107): Show GAGAGAGAGAGAGAGAGAGAGAGGTGGCAGTGAGTGGAGATCGCACCACT GCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTAAAATATATATATA TATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	403	0.0025	-114	c.20 others(11): Show c.2011_*2124del		PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding					1570		chr9	TogoVar
RAB40C_chr16_585066_634268	632028	GCCTCTCC others(107): Show GCCTCTCCTCCCACCCTCTCCTCCCATCCACTCCTCCCATCCACTCCTCC CATCCACTTCTTCCATCCTCTTCTCCCACCCCGTCACTGCCTCTCCTTCC ATCCTCTCCTCCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0153 a0001c0001t0007g0153	1	277	0.0036	-114	c.44 others(11): Show c.4407_*4520del		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding					2761		chr16	TogoVar
RASA3_chr13_113972783_114137623	114098934	GGACCACA others(107): Show GGACCACAGCAGTCGGGGCCCGGCCACCCGAGCCCCCCAGACCACAGCAG TCGGGGCCCGGCCACCCGAGCCCCCCAGACCACAGCAGTCGGGGCCCGGC CACCCGAGCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp2 HG02258.hp2 others(7): Show HG00621.hp2 HG00733.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02738.hp1 HG02738.hp2 HG04228.hp2 NA18973.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0005t0001 a0001c0009t0008 a0001c0001t0001 a0001c0005t0001 a0001c0009t0008	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0040 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0009t0008g0048	10	21	0.4762	-114	c.56- others(17): Show c.56-25211_56-25098del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114111218	TCAAACCA others(107): Show TCAAACCAGCTGCAGGCCGAGTTCTAACGGGCTGAGCCACAAACGAGCTG CAGGCGGAGTTCTAAGGAGCTGAGCCTCAAACCAGCTGCAGACCGAGTTC TAACGGGCTGAGCCA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp2 HG04228.hp2 HG01361.hp2 HG01993.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0002 a0001c0003t0003 a0001c0005t0001 a0001c0002t0002 a0001c0003t0003 a0001c0005t0001	a0001c0002t0002g0019 a0001c0003t0003g0020 a0001c0005t0001g0016 a0001c0002t0002g0019 a0001c0003t0003g0020 a0001c0005t0001g0016	3	66	0.0455	-114	c.55+ others(17): Show c.55+21103_55+21216del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASGEF1C_chr5_180095795_180214211	180113399	CCGGGGAT others(107): Show CCGGGGATGGACGGAGGGATCGGGGATGGATGGAGGGATCCGGGATGGAC GGAGGGACCGGGGATGGACGGAGTGACCGGGGATGGACGGAGGGACCGGG GATGGACGGAGGGAT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18964.hp1 NA19012.hp2 others(1): Show NA18944.hp2 NA18964.hp1 NA19012.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0009 a0001c0001t0001 a0001c0001t0006 a0001c0002t0009	a0001c0001t0001g0276 a0001c0001t0001g0322 a0001c0001t0006g0045 others(1): Show a0001c0001t0001g0276 a0001c0001t0001g0322 a0001c0001t0006g0045 a0001c0002t0009g0067	4	367	0.0109	-114	c.117 others(18): Show c.1179+933_1179+1046del		RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13						chr5	TogoVar
RBFOX3_chr17_79084345_79616051	79442222	AGAGAGAG others(107): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGAGGGAGTGAG GGAGGGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG00741.hp2 others(35): Show HG00558.hp1 HG00642.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02109.hp2 HG02280.hp1 HG02300.hp2 HG02630.hp2 HG02683.hp1 HG02895.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18952.hp1 NA18966.hp2 NA18970.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0005t0003	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0025 others(35): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0002g0114 a0001c0001t0002g0124 a0001c0001t0002g0146 a0001c0001t0003g0002 a0001c0001t0003g0014 a0001c0001t0003g0032 a0001c0001t0003g0061 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0100 a0001c0001t0004g0105 a0001c0001t0004g0116 a0001c0001t0005g0107 a0001c0001t0005g0137 a0001c0001t0006g0115 a0001c0001t0007g0009 a0001c0001t0008g0130 a0001c0001t0010g0022 a0001c0001t0025g0143 a0001c0001t0026g0106 a0001c0002t0001g0053 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0002g0145 a0001c0002t0003g0047 a0001c0002t0004g0091 a0001c0002t0006g0140 a0001c0002t0009g0041 a0001c0002t0011g0034 a0001c0005t0003g0075	38	151	0.2517	-114	c.-17 others(21): Show c.-175+40118_-175+40231del		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14						chr17	TogoVar
RGL3_chr19_11389060_11424314	11414332	TATATATA others(107): Show TATATATACCTTTATATATATATACCTTTATATATACCTTTATATATATA TATACCTTTATATATATACCTTTATATATATATACCTTTATATATATATA CCTTCATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA20300.hp2 HG02630.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0319 a0002c0002t0001g0143 a0001c0003t0001g0319 a0002c0002t0001g0143	2	400	0.0050	-114	c.637 others(17): Show c.637+1491_637+1604del		RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18						chr19	TogoVar
RHBDL3_chr17_32260832_32329659	32276842	GGCCCTAG others(107): Show GGCCCTAGCACCTTACTCCGGCCCTAGCACAGTACTGCGGCCCTAGCACC TTACTCCGGCCCTAGCACCTTACTCCAGCCCTAGCACCTTACTCCGGCCC TAGCACCTTACTCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02451.hp2 others(9): Show HG01884.hp1 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG02922.hp2 HG03225.hp2 HG03471.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0004g0185 others(9): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0014g0186 a0001c0001t0015g0184 a0001c0001t0016g0187	12	304	0.0395	-114	c.136 others(17): Show c.136-7806_136-7693del		RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
RIC1_chr9_5624107_5781557	5780810	TTCATAAA others(107): Show TTCATAAAGCATACACAGGTATCAGTAGCCGAATTGATCAAGTGGAAGAA AGGGTATCAGAGACTGAAGATCAACTCAATGAAATAAAGCAAGAAGACAA GATTAGAGAAAAAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	326	0.0031	-114	c.65 others(11): Show c.6565_*6678del		RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding					4254		chr9	TogoVar
RILPL1_chr12_123465054_123538719	123521617	GTGTATAT others(107): Show GTGTATATATATACACACATATGTGTATATATATACACATATATGTATAT ATATAAATATATATATATACACACATATATGTATATATATATAAATATAT ATATACACACATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	207	0.0048	-114	c.460 others(17): Show c.460+1764_460+1877del		RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130531912	TACGTCTA others(107): Show TACGTCTAATGAGATGCGTATGTTTAGCCTCTAGGAGGTACGTCTAATGA GATGCGTATGTTTAGCCTCTAGGAGGTACGTCTAATGAGATGCGTATGTT TAGCCTCTAGGAGGG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	178	0.0056	-114	c.-21 others(21): Show c.-216-14109_-216-13996del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130532026	GACGTCTA others(107): Show GACGTCTAATGAGATGCGTATGTTTAGCCTCTAGGAGGTACGTCTAATGA GATGCGTATGTTTAGCCTCTAGGAGGGACGTCTAATGAGATGCGTGTGTG TAGCCTCTAGGAGTT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	134	0.0075	-114	c.-21 others(21): Show c.-216-14223_-216-14110del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22						chr12	TogoVar

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