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 haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
PAM_chr5_102750305_103034716	102836859	C C	CGAGAGAG others(11): Show CGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG03579.hp1 others(1): Show HG02976.hp1 HG03041.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0026 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0002t0002g0001	4	188	0.0213	18	c.-37 others(39): Show c.-373-28942_-373-28925dupAGAGAGAGAGAGAGAGAG	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102841406	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19004.hp1 NA19011.hp2 others(1): Show NA18950.hp1 NA19004.hp1 NA19011.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0015 others(1): Show a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0019	4	188	0.0213	18	c.-37 others(39): Show c.-373-24395_-373-24378dupCACACACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102881129	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	188	0.0053	18	c.210 others(37): Show c.210+13746_210+13763dupCACACACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102881129	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	188	0.0053	18	c.210 others(37): Show c.210+13737_210+13738insTACACACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102881133	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG02559.hp1 HG02970.hp2	a0004 a0004	a0004c0006 a0004c0007 a0004c0006 a0004c0007	a0004c0006t0001 a0004c0007t0002 a0004c0006t0001 a0004c0007t0002	a0004c0006t0001g0152 a0004c0007t0002g0038 a0004c0006t0001g0152 a0004c0007t0002g0038	2	188	0.0106	18	c.210 others(37): Show c.210+13757_210+13758insTACACACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102885094	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	188	0.0053	18	c.211 others(37): Show c.211-16261_211-16260insTATATATATATATATAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102950412	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	188	0.0053	18	c.802 others(33): Show c.802-302_802-301insTGTGTGTGTGTGTGTGTG	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102950416	G G	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02572.hp1 NA18994.hp1 others(1): Show HG00642.hp2 HG02572.hp1 NA18994.hp1 NA19056.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0002 a0001c0002t0004 a0005c0009t0002 a0001c0002t0002 a0001c0002t0004 a0005c0009t0002	a0001c0002t0002g0064 a0001c0002t0002g0125 a0001c0002t0004g0073 others(1): Show a0001c0002t0002g0064 a0001c0002t0002g0125 a0001c0002t0004g0073 a0005c0009t0002g0010	4	188	0.0213	18	c.802 others(33): Show c.802-300_802-299insGGTGTGTGTGTGTGTGTG	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102950416	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02976.hp2 NA19240.hp2 HG01255.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0001g0102 a0001c0001t0002g0186 a0001c0001t0002g0187	3	188	0.0160	18	c.802 others(33): Show c.802-294_802-277dupGTGTGTGTGTGTGTGTGT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102965162	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	188	0.0053	18	c.116 others(37): Show c.1162+3952_1162+3969dupACACACACACACACACAC	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	14/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAN3_chr13_28133545_28300335	28235682	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG00639.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0188 a0001c0001t0007g0177 a0001c0001t0005g0188 a0001c0001t0007g0177	2	252	0.0079	18	c.100 others(39): Show c.1000+15317_1000+15318insCACACACACACACACACA	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PAN3_chr13_28133545_28300335	28235696	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0122 a0001c0001t0010g0122	1	252	0.0040	18	c.100 others(39): Show c.1000+15328_1000+15345dupCACACACACACACACACA	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PAN3_chr13_28133545_28300335	28235722	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0019 a0001c0001t0047g0019	1	252	0.0040	18	c.100 others(39): Show c.1000+15345_1000+15346insCACACACACACACACATA	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK1_chr10_89577988_89650242	89595833	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	366	0.0027	18	c.900 others(35): Show c.900-1845_900-1844insATATATATATATATTTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK2_chr20_3884387_3934887	3902972	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0056 a0001c0001t0067g0056	1	422	0.0024	18	c.299 others(35): Show c.299-4925_299-4908dupACACACACACACACACAC	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	416	0.0024	18	c.635 others(33): Show c.635+144_635+145insATATATATATATATTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	416	0.0024	18	c.635 others(33): Show c.635+144_635+145insATATATATATATATATTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168569030	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02080.hp2 HG03688.hp2 others(3): Show HG01074.hp1 HG02080.hp2 HG03688.hp2 NA18959.hp1 NA18980.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0044 a0001c0001t0001 a0001c0001t0017 a0001c0001t0044	a0001c0001t0001g0115 a0001c0001t0001g0246 a0001c0001t0001g0262 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0017g0042 a0001c0001t0044g0263	6	416	0.0144	18	c.29- others(29): Show c.29-33_29-32insATATATATATATATATTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168569030	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG03710.hp2 others(1): Show HG00099.hp2 HG01255.hp1 HG03710.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0048 a0001c0001t0001 a0001c0001t0048	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0298 others(1): Show a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0298 a0001c0001t0048g0260	4	416	0.0096	18	c.29- others(29): Show c.29-50_29-33dupATATATATATATATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168573416	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19067.hp1 HG03453.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0012 a0001c0006t0006 a0001c0001t0012 a0001c0006t0006	a0001c0001t0012g0056 a0001c0006t0006g0186 a0001c0001t0012g0056 a0001c0006t0006g0186	2	416	0.0048	18	c.29- others(33): Show c.29-4436_29-4419dupTTTTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PAPLN_chr14_73232506_73279623	73258618	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01123.hp2 others(36): Show HG00408.hp2 HG00609.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01433.hp2 HG01978.hp2 HG02074.hp1 HG02083.hp2 HG02683.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19086.hp1	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0013 a0019 a0027 a0037	a0001c0004 a0003c0002 a0003c0032 others(5): Show a0001c0004 a0003c0002 a0003c0032 a0006c0008 a0013c0016 a0019c0034 a0027c0063 a0037c0052	a0001c0004t0001 a0003c0002t0001 a0003c0002t0003 others(8): Show a0001c0004t0001 a0003c0002t0001 a0003c0002t0003 a0003c0032t0001 a0006c0008t0001 a0006c0008t0010 a0006c0008t0016 a0013c0016t0003 a0019c0034t0001 a0027c0063t0001 a0037c0052t0001	a0001c0004t0001g0087 a0001c0004t0001g0206 a0001c0004t0001g0209 others(34): Show a0001c0004t0001g0087 a0001c0004t0001g0206 a0001c0004t0001g0209 a0001c0004t0001g0229 a0003c0002t0001g0107 a0003c0002t0001g0108 a0003c0002t0001g0130 a0003c0002t0001g0148 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0152 a0003c0002t0001g0156 a0003c0002t0001g0159 a0003c0002t0001g0163 a0003c0002t0001g0164 a0003c0002t0001g0168 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0178 a0003c0002t0003g0132 a0003c0032t0001g0022 a0003c0032t0001g0023 a0006c0008t0001g0005 a0006c0008t0001g0115 a0006c0008t0001g0118 a0006c0008t0001g0119 a0006c0008t0001g0121 a0006c0008t0001g0124 a0006c0008t0001g0125 a0006c0008t0001g0127 a0006c0008t0010g0145 a0006c0008t0016g0143 a0006c0008t0016g0144 a0013c0016t0003g0011 a0019c0034t0001g0149 a0027c0063t0001g0160 a0037c0052t0001g0074	39	418	0.0933	18	c.162 others(35): Show c.1628-358_1628-341dupAAAAAAAAAAAAAAAAAA	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPOLA_chr14_96497382_96572116	96559581	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	310	0.0032	18	c.200 others(37): Show c.2005-1067_2005-1066insCTCTCTCTCTCTATATAT	PAPOLA	ENSG00000090060.19	transcript	ENST00000216277.13	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPPA2_chr1_176458175_176850601	176498751	C C	CACAAAAA others(11): Show CACAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02615.hp1 others(2): Show HG02258.hp1 HG02486.hp1 HG02615.hp1 HG03453.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0044 a0001c0002t0001 a0003c0005t0009 others(1): Show a0001c0001t0044 a0001c0002t0001 a0003c0005t0009 a0003c0005t0022	a0001c0001t0044g0034 a0001c0002t0001g0006 a0001c0002t0001g0007 others(2): Show a0001c0001t0044g0034 a0001c0002t0001g0006 a0001c0002t0001g0007 a0003c0005t0009g0028 a0003c0005t0022g0111	5	118	0.0424	18	c.-91 others(39): Show c.-917+35334_-917+35335insCAAAAAAAAAAAAAAAAA	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA2_chr1_176458175_176850601	176510810	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG06807.hp2 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0001 a0001c0001t0026 a0001c0002t0001	a0001c0001t0026g0036 a0001c0002t0001g0006 a0001c0001t0026g0036 a0001c0002t0001g0006	2	118	0.0170	18	c.-91 others(39): Show c.-916-44575_-916-44558dupCACACACACACACACACA	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA2_chr1_176458175_176850601	176623669	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0038 a0002c0004t0038	a0002c0004t0038g0023 a0002c0004t0038g0023	1	118	0.0085	18	c.199 others(39): Show c.1991+28075_1991+28076insCTTTCTTTCTTTCTTTCT	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA_chr9_116148791_116407321	116384270	T T	TTAATAAT others(11): Show TTAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0012 a0005c0014t0012	a0005c0014t0012g0018 a0005c0014t0012g0018	1	234	0.0043	18	c.477 others(37): Show c.4776+1793_4776+1810dupTAATAATAATAATAATAA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS1_chr4_107608666_107725234	107621608	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02056.hp2 HG01975.hp1 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0001 a0001c0003t0002 a0001c0005t0001	a0001c0003t0002g0131 a0001c0005t0001g0008 a0001c0003t0002g0131 a0001c0005t0001g0008	2	276	0.0073	18	c.173 others(37): Show c.1737-7239_1737-7222dupAAAAAAAAAAAAAAAAAA	PAPSS1	ENSG00000138801.9	transcript	ENST00000265174.5	protein_coding	11/11			chr4	TogoVar
PAPSS2_chr10_87654878_87752705	87688443	T T	TTTTATTT others(11): Show TTTTATTTTATTTTATTTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03516.hp2 HG04199.hp2 others(3): Show HG02818.hp2 HG03516.hp2 HG04199.hp2 NA18954.hp2 NA19072.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 a0001c0001t0049	a0001c0001t0001g0148 a0001c0001t0002g0181 a0001c0001t0003g0147 others(3): Show a0001c0001t0001g0148 a0001c0001t0002g0181 a0001c0001t0003g0147 a0001c0001t0004g0013 a0001c0001t0023g0173 a0001c0001t0049g0156	6	372	0.0161	18	c.28- others(35): Show c.28-20746_28-20745insTATTTTATTTATTTATTT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706084	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01891.hp1 NA18957.hp2 others(3): Show HG01069.hp1 HG01891.hp1 NA18957.hp2 NA18977.hp1 NA19010.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0027	a0001c0001t0003g0136 a0001c0001t0006g0037 a0001c0001t0010g0010 others(3): Show a0001c0001t0003g0136 a0001c0001t0006g0037 a0001c0001t0010g0010 a0001c0001t0010g0028 a0001c0001t0014g0238 a0001c0001t0027g0027	6	372	0.0161	18	c.28- others(33): Show c.28-3104_28-3087dupATATATATATATATATAT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18988.hp2 NA18969.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0102 a0001c0001t0013g0282 a0001c0001t0013g0102 a0001c0001t0013g0282	2	372	0.0054	18	c.381 others(30): Show c.381+7_381+24dupAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87724851	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18991.hp1 NA18943.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0138 a0001c0001t0013g0107 a0001c0001t0013g0138	2	372	0.0054	18	c.881 others(35): Show c.881-2429_881-2412dupCACACACACACACACACA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87725884	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG01884.hp1 others(16): Show HG00323.hp2 HG01168.hp1 HG01884.hp1 HG01891.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03486.hp1 HG03704.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18950.hp2 NA18951.hp1 NA18963.hp1 NA19002.hp1 NA19010.hp1 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0048 a0001c0001t0052 a0005c0012t0014	a0001c0001t0002g0091 a0001c0001t0002g0105 a0001c0001t0002g0145 others(16): Show a0001c0001t0002g0091 a0001c0001t0002g0105 a0001c0001t0002g0145 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0003g0274 a0001c0001t0005g0224 a0001c0001t0005g0334 a0001c0001t0005g0337 a0001c0001t0005g0362 a0001c0001t0008g0359 a0001c0001t0009g0155 a0001c0001t0009g0222 a0001c0001t0014g0233 a0001c0001t0014g0235 a0001c0001t0014g0238 a0001c0001t0048g0158 a0001c0001t0052g0159 a0005c0012t0014g0227	19	372	0.0511	18	c.881 others(35): Show c.881-1386_881-1369dupCACACACACACACACACA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300929	C C	CTTTCTTT others(11): Show CTTTCTTTCCTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	284	0.0035	18	c.-27 others(37): Show c.-277+1874_-277+1875insTTCTTTCCTTCTTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300933	C C	CTCTTTCC others(11): Show CTCTTTCCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	284	0.0035	18	c.-27 others(37): Show c.-277+1880_-277+1881insTTCCTTCTTCTTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTTTCCTT others(11): Show CTTTCCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19003.hp1 HG02258.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0171 a0002c0002t0002g0148 a0002c0002t0002g0171	2	284	0.0070	18	c.-27 others(37): Show c.-277+1882_-277+1883insTTCCTTCTTTCTTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69301859	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	284	0.0035	18	c.-27 others(37): Show c.-277+2823_-277+2840dupTTTTTTTTTTTTTTTTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322772	G G	GGAAGAGG others(11): Show GGAAGAGGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	284	0.0035	18	c.-27 others(39): Show c.-276-14568_-276-14567insAAGAGGAAGAAGAAGAAG	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322811	G G	GGAAGAAG others(11): Show GGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	284	0.0035	18	c.-27 others(39): Show c.-276-14521_-276-14504dupAGAAGAAGAAGAAGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69409223	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0164 a0002c0002t0002g0164	1	284	0.0035	18	c.54 others(29): Show c.5401_*5402insACACACACACACACACAC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding		1444		chr15	TogoVar
PAQR9_chr3_142949585_142968674	142964237	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01515.hp2 HG02809.hp1 others(1): Show HG00140.hp1 HG01515.hp2 HG02809.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	4	446	0.0090	18	c.-90 others(27): Show c.-902_-901insACACACACACACACACAC	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		564		chr3	TogoVar
PARD3B_chr2_204540475_205625162	204643115	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 NA20300.hp2 HG03453.hp1 HG03471.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0021 a0004c0020 a0001c0004 a0001c0021 a0004c0020	a0001c0004t0002 a0001c0021t0001 a0004c0020t0020 a0001c0004t0002 a0001c0021t0001 a0004c0020t0020	a0001c0004t0002g0035 a0001c0021t0001g0012 a0004c0020t0020g0032 a0001c0004t0002g0035 a0001c0021t0001g0012 a0004c0020t0020g0032	3	54	0.0556	18	c.121 others(37): Show c.121-43062_121-43045dupAAAAAAAAAAAAAAAAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205035820	T T	TATATATA others(11): Show TATATATATATATAGTGGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	54	0.0185	18	c.395 others(37): Show c.395-11761_395-11760insATATATATATATAGTGGG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22			chr2	TogoVar
PARD3B_chr2_204540475_205625162	205035827	A A	ATATATAT others(11): Show ATATATATATATAGTGGGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0051 a0001c0004t0021g0051	1	54	0.0185	18	c.395 others(37): Show c.395-11753_395-11752insATATATATATAGTGGGCT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205117918	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02723.hp1 others(6): Show HG02145.hp1 HG02622.hp1 HG02723.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0008 a0001c0022 others(1): Show a0001c0002 a0001c0008 a0001c0022 a0008c0007	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 others(5): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0008t0001 a0001c0008t0004 a0001c0022t0018 a0008c0007t0001 a0008c0007t0005	a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 others(6): Show a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 a0001c0002t0013g0022 a0001c0008t0001g0054 a0001c0008t0004g0028 a0001c0022t0018g0020 a0008c0007t0001g0026 a0008c0007t0005g0040	9	54	0.1667	18	c.681 others(33): Show c.681-986_681-985insTACACACACACACACACA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205168320	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp1 NA19043.hp2 others(1): Show HG02886.hp2 HG03453.hp1 NA19043.hp2 NA19240.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0004 a0001c0006 a0004c0026 others(1): Show a0001c0004 a0001c0006 a0004c0026 a0007c0017	a0001c0004t0002 a0001c0006t0007 a0004c0026t0004 others(1): Show a0001c0004t0002 a0001c0006t0007 a0004c0026t0004 a0007c0017t0012	a0001c0004t0002g0035 a0001c0006t0007g0018 a0004c0026t0004g0041 others(1): Show a0001c0004t0002g0035 a0001c0006t0007g0018 a0004c0026t0004g0041 a0007c0017t0012g0006	4	54	0.0741	18	c.162 others(37): Show c.1621-3890_1621-3889insAGAGAGAGAGAGAGAGTG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205344194	T T	TTGTGTTT others(11): Show TTGTGTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp2 HG02976.hp2 NA19030.hp2	a0003 a0004 a0003 a0004	a0003c0010 a0004c0011 a0003c0010 a0004c0011	a0003c0010t0019 a0004c0011t0003 a0003c0010t0019 a0004c0011t0003	a0003c0010t0019g0030 a0004c0011t0003g0043 a0003c0010t0019g0030 a0004c0011t0003g0043	2	54	0.0370	18	c.263 others(39): Show c.2630+42498_2630+42499insTTGTGTGTGTGTGTGTGT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380125	T T	TATATATA others(11): Show TATATATATTATATAAAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 HG01884.hp1 others(6): Show HG00609.hp1 HG01109.hp1 HG01884.hp1 HG02055.hp2 HG02965.hp2 HG03471.hp1 NA18522.hp1 NA19030.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0008 a0001c0016 a0001c0021 others(5): Show a0001c0008 a0001c0016 a0001c0021 a0002c0001 a0003c0005 a0003c0009 a0003c0018 a0004c0020	a0001c0008t0004 a0001c0016t0002 a0001c0021t0001 others(6): Show a0001c0008t0004 a0001c0016t0002 a0001c0021t0001 a0002c0001t0001 a0002c0001t0002 a0003c0005t0001 a0003c0009t0002 a0003c0018t0002 a0004c0020t0020	a0001c0008t0004g0028 a0001c0016t0002g0037 a0001c0021t0001g0012 others(6): Show a0001c0008t0004g0028 a0001c0016t0002g0037 a0001c0021t0001g0012 a0002c0001t0001g0053 a0002c0001t0002g0033 a0003c0005t0001g0010 a0003c0009t0002g0034 a0003c0018t0002g0038 a0004c0020t0020g0032	9	54	0.1667	18	c.263 others(39): Show c.2631-20854_2631-20837dupAGAATATATATTATATAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380946	T T	TATATAAA others(11): Show TATATAAATAATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp1 HG01884.hp1 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0001 a0002c0001t0001 a0003c0005t0001	a0002c0001t0001g0053 a0003c0005t0001g0010 a0002c0001t0001g0053 a0003c0005t0001g0010	2	54	0.0370	18	c.263 others(39): Show c.2631-20061_2631-20060insATAATATATATAATATAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205381016	T T	TGTATATA others(11): Show TGTATATAATATATAAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0049 a0002c0003t0008g0049	1	54	0.0185	18	c.263 others(39): Show c.2631-19997_2631-19996insGTATATAATATATAAAGA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22			chr2	TogoVar
PARD3B_chr2_204540475_205625162	205381050	T T	TATATATA others(11): Show TATATATAAAGAATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 HG01884.hp1 others(23): Show HG00609.hp1 HG01109.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0002 a0001c0004 a0001c0006 others(14): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0016 a0001c0021 a0001c0022 a0002c0001 a0002c0003 a0002c0015 a0003c0005 a0003c0009 a0003c0018 a0004c0012 a0005c0013 a0007c0028 a0008c0007	a0001c0002t0001 a0001c0002t0013 a0001c0004t0014 others(19): Show a0001c0002t0001 a0001c0002t0013 a0001c0004t0014 a0001c0006t0007 a0001c0008t0004 a0001c0016t0002 a0001c0021t0001 a0001c0022t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0010 a0002c0003t0003 a0002c0015t0017 a0003c0005t0001 a0003c0005t0005 a0003c0009t0002 a0003c0009t0009 a0003c0018t0002 a0004c0012t0003 a0005c0013t0003 a0007c0028t0003 a0008c0007t0001	a0001c0002t0001g0027 a0001c0002t0013g0022 a0001c0004t0014g0016 others(23): Show a0001c0002t0001g0027 a0001c0002t0013g0022 a0001c0004t0014g0016 a0001c0006t0007g0013 a0001c0006t0007g0018 a0001c0008t0004g0028 a0001c0016t0002g0037 a0001c0021t0001g0012 a0001c0022t0018g0020 a0002c0001t0001g0042 a0002c0001t0001g0053 a0002c0001t0002g0019 a0002c0001t0002g0033 a0002c0001t0010g0050 a0002c0003t0003g0047 a0002c0015t0017g0015 a0003c0005t0001g0010 a0003c0005t0001g0025 a0003c0005t0005g0045 a0003c0009t0002g0034 a0003c0009t0009g0039 a0003c0018t0002g0038 a0004c0012t0003g0048 a0005c0013t0003g0002 a0007c0028t0003g0007 a0008c0007t0001g0026	26	54	0.4815	18	c.263 others(39): Show c.2631-19962_2631-19945dupATATATAAAGAATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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