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
NBPF19_chr1_149470045_149561361	149543186	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(13): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00735.hp1 HG01074.hp1 HG01358.hp1 HG01517.hp2 HG02630.hp1 HG02683.hp1 HG04115.hp2 HG04184.hp2 NA18747.hp1 NA18969.hp1 NA18977.hp2 NA19079.hp1	a0025 a0038 a0039 others(13): Show a0025 a0038 a0039 a0042 a0044 a0051 a0055 a0064 a0069 a0108 a0147 a0149 a0155 a0176 a0179 a0206	a0025c0023 a0038c0039 a0039c0144 others(13): Show a0025c0023 a0038c0039 a0039c0144 a0042c0200 a0044c0199 a0051c0201 a0055c0170 a0064c0168 a0069c0146 a0108c0083 a0147c0194 a0149c0193 a0155c0104 a0176c0171 a0179c0220 a0206c0169	a0025c0023t0001 a0038c0039t0001 a0039c0144t0001 others(13): Show a0025c0023t0001 a0038c0039t0001 a0039c0144t0001 a0042c0200t0005 a0044c0199t0005 a0051c0201t0004 a0055c0170t0001 a0064c0168t0001 a0069c0146t0001 a0108c0083t0001 a0147c0194t0001 a0149c0193t0001 a0155c0104t0001 a0176c0171t0001 a0179c0220t0001 a0206c0169t0001	a0025c0023t0001g0156 a0038c0039t0001g0079 a0039c0144t0001g0127 others(13): Show a0025c0023t0001g0156 a0038c0039t0001g0079 a0039c0144t0001g0127 a0042c0200t0005g0212 a0044c0199t0005g0215 a0051c0201t0004g0205 a0055c0170t0001g0120 a0064c0168t0001g0106 a0069c0146t0001g0034 a0108c0083t0001g0162 a0147c0194t0001g0129 a0149c0193t0001g0128 a0155c0104t0001g0017 a0176c0171t0001g0145 a0179c0220t0001g0094 a0206c0169t0001g0052	16	276	0.0580	22	c.954 others(39): Show c.9543-226_9543-225insCTGTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	79/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149543186	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp2 HG02148.hp2 others(9): Show HG01081.hp1 HG01346.hp2 HG02148.hp2 HG02155.hp1 NA18747.hp2 NA18946.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18982.hp1 NA18990.hp1 NA19084.hp1	a0019 a0034 a0063 others(8): Show a0019 a0034 a0063 a0091 a0156 a0161 a0164 a0168 a0172 a0182 a0188	a0019c0012 a0034c0011 a0063c0074 others(8): Show a0019c0012 a0034c0011 a0063c0074 a0091c0062 a0156c0042 a0161c0040 a0164c0053 a0168c0059 a0172c0049 a0182c0069 a0188c0218	a0019c0012t0002 a0034c0011t0002 a0063c0074t0002 others(8): Show a0019c0012t0002 a0034c0011t0002 a0063c0074t0002 a0091c0062t0002 a0156c0042t0002 a0161c0040t0002 a0164c0053t0002 a0168c0059t0002 a0172c0049t0002 a0182c0069t0002 a0188c0218t0002	a0019c0012t0002g0232 a0019c0012t0002g0266 a0034c0011t0002g0255 others(9): Show a0019c0012t0002g0232 a0019c0012t0002g0266 a0034c0011t0002g0255 a0063c0074t0002g0261 a0091c0062t0002g0237 a0156c0042t0002g0236 a0161c0040t0002g0243 a0164c0053t0002g0249 a0168c0059t0002g0259 a0172c0049t0002g0244 a0182c0069t0002g0245 a0188c0218t0002g0234	12	276	0.0435	22	c.954 others(39): Show c.9543-216_9543-215insGTGTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	79/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149547923	C C	CTCTCTCT others(15): Show CTCTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0106 a0106	a0106c0076 a0106c0076	a0106c0076t0014 a0106c0076t0014	a0106c0076t0014g0225 a0106c0076t0014g0225	1	276	0.0036	22	c.102 others(41): Show c.10275-226_10275-225insCTCTCTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	85/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149547923	C C	CTCTCTGT others(15): Show CTCTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18942.hp2 NA18946.hp1 others(4): Show HG00642.hp1 NA18942.hp2 NA18946.hp1 NA18955.hp2 NA18981.hp2 NA19065.hp1 NA19088.hp1	a0016 a0017 a0159 others(2): Show a0016 a0017 a0159 a0160 a0166	a0016c0010 a0017c0016 a0159c0132 others(2): Show a0016c0010 a0017c0016 a0159c0132 a0160c0129 a0166c0163	a0016c0010t0001 a0017c0016t0002 a0159c0132t0001 others(2): Show a0016c0010t0001 a0017c0016t0002 a0159c0132t0001 a0160c0129t0003 a0166c0163t0001	a0016c0010t0001g0010 a0016c0010t0001g0011 a0016c0010t0001g0012 others(4): Show a0016c0010t0001g0010 a0016c0010t0001g0011 a0016c0010t0001g0012 a0017c0016t0002g0256 a0159c0132t0001g0199 a0160c0129t0003g0192 a0166c0163t0001g0200	7	276	0.0254	22	c.102 others(41): Show c.10275-226_10275-225insCTCTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	85/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149547923	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18972.hp1 HG02165.hp1 NA18972.hp1	a0093 a0178 a0093 a0178	a0093c0209 a0178c0210 a0093c0209 a0178c0210	a0093c0209t0004 a0178c0210t0004 a0093c0209t0004 a0178c0210t0004	a0093c0209t0004g0207 a0178c0210t0004g0206 a0093c0209t0004g0207 a0178c0210t0004g0206	2	276	0.0073	22	c.102 others(41): Show c.10275-226_10275-225insCTGTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	85/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149552660	C C	CTCTCTGT others(15): Show CTCTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18962.hp1 HG02895.hp1 NA18962.hp1	a0004 a0171 a0004 a0171	a0004c0211 a0171c0202 a0004c0211 a0171c0202	a0004c0211t0019 a0171c0202t0013 a0004c0211t0019 a0171c0202t0013	a0004c0211t0019g0211 a0171c0202t0013g0204 a0004c0211t0019g0211 a0171c0202t0013g0204	2	276	0.0073	22	c.110 others(41): Show c.11007-226_11007-225insCTCTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	91/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF20_chr1_145285005_145430603	145371339	C C	CACACACA others(15): Show CACACACACAGACACACACACAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0003 a0003c0002t0001g0003	1	6	0.1667	22	c.441 others(39): Show c.4419-228_4419-227insCTGTGTGTGTGTCTGTGTGTGT	NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	42/142			chr1	TogoVar
NBPF3_chr1_21435137_21489900	21479820	C C	CTCTCTGT others(15): Show CTCTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0181 a0004c0004t0005g0181	1	394	0.0025	22	c.120 others(39): Show c.1209-230_1209-229insCTCTGTGTGTGTGTGTGTGTGT	NBPF3	ENSG00000142794.19	transcript	ENST00000318249.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF3_chr1_21435137_21489900	21479820	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01515.hp1 HG01516.hp2 others(3): Show HG01255.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 NA19000.hp1 NA19090.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0003 a0003c0003t0017 a0005c0005t0004 a0003c0003t0003 a0003c0003t0017 a0005c0005t0004	a0003c0003t0003g0071 a0003c0003t0003g0135 a0003c0003t0003g0155 others(2): Show a0003c0003t0003g0071 a0003c0003t0003g0135 a0003c0003t0003g0155 a0003c0003t0017g0033 a0005c0005t0004g0293	6	394	0.0152	22	c.120 others(39): Show c.1209-230_1209-229insCTGTGTGTGTGTGTGTGTGTGT	NBPF3	ENSG00000142794.19	transcript	ENST00000318249.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCAM1_chr11_112956420_113283436	113017635	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00597.hp2 others(46): Show HG00408.hp2 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02165.hp1 HG02895.hp1 HG03209.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp2 NA18961.hp2 NA18967.hp1 NA18971.hp1 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA18993.hp2 NA19010.hp2 NA19063.hp2 NA19070.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0014 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0028 a0001c0001t0049 a0001c0001t0053 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0013 a0001c0002t0019 a0001c0002t0023 a0001c0007t0002 a0001c0009t0019 a0001c0014t0051 a0002c0004t0017	a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0138 others(45): Show a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0138 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0055 a0001c0001t0002g0237 a0001c0001t0004g0032 a0001c0001t0009g0163 a0001c0001t0013g0035 a0001c0001t0013g0043 a0001c0001t0017g0021 a0001c0001t0018g0022 a0001c0001t0018g0048 a0001c0001t0025g0053 a0001c0001t0025g0054 a0001c0001t0028g0207 a0001c0001t0049g0028 a0001c0001t0053g0038 a0001c0001t0054g0044 a0001c0002t0001g0165 a0001c0002t0002g0040 a0001c0002t0002g0051 a0001c0002t0013g0018 a0001c0002t0019g0041 a0001c0002t0023g0045 a0001c0002t0023g0046 a0001c0007t0002g0020 a0001c0009t0019g0049 a0001c0014t0051g0029 a0002c0004t0017g0050	49	242	0.2025	22	c.52+ others(39): Show c.52+55975_52+55996dupGTGTGTGTGTGTGTGTGTGTGT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113095326	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02970.hp2 others(3): Show HG02622.hp1 HG02886.hp2 HG02970.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 others(2): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0002t0033 a0001c0008t0001	a0001c0001t0006g0057 a0001c0001t0006g0059 a0001c0001t0010g0129 others(3): Show a0001c0001t0006g0057 a0001c0001t0006g0059 a0001c0001t0010g0129 a0001c0001t0015g0128 a0001c0002t0033g0130 a0001c0008t0001g0058	6	242	0.0248	22	c.53- others(41): Show c.53-107048_53-107047insGTGTGTGTGTGTGTGTATGTGT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113173591	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02004.hp2 HG02895.hp2 others(1): Show HG01884.hp1 HG02004.hp2 HG02895.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0002t0024 others(1): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0024 a0001c0002t0048	a0001c0001t0010g0208 a0001c0002t0001g0109 a0001c0002t0024g0047 others(1): Show a0001c0001t0010g0208 a0001c0002t0001g0109 a0001c0002t0024g0047 a0001c0002t0048g0142	4	242	0.0165	22	c.53- others(39): Show c.53-28773_53-28752dupATATATATATATATATATATAT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113185068	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03239.hp2 HG03130.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0039 a0001c0001t0006g0206 a0001c0001t0002g0039 a0001c0001t0006g0206	2	242	0.0083	22	c.53- others(39): Show c.53-17299_53-17298insTATATATATATATATATATATA	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113185079	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0148 a0001c0002t0003g0148	1	242	0.0041	22	c.53- others(39): Show c.53-17299_53-17298insTATATATAGAGAGAGAGAGAGA	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113185079	T T	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18906.hp2 HG00597.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0009 a0001c0001t0006 a0001c0002t0009	a0001c0001t0006g0066 a0001c0002t0009g0191 a0001c0001t0006g0066 a0001c0002t0009g0191	2	242	0.0083	22	c.53- others(39): Show c.53-17299_53-17298insTATATATATAGAGAGAGAGAGA	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113185079	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0232 a0001c0001t0008g0232	1	242	0.0041	22	c.53- others(39): Show c.53-17299_53-17298insTATATATATATAGAGAGAGAGA	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113185079	T T	TATATATA others(15): Show TATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0173 a0001c0001t0012g0173	1	242	0.0041	22	c.53- others(39): Show c.53-17299_53-17298insTATATATATATATAGAGAGAGA	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113185079	T T	TATATATA others(15): Show TATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0172 a0001c0001t0045g0172	1	242	0.0041	22	c.53- others(39): Show c.53-17299_53-17298insTATATATATATATATAGAGAGA	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM2_chr21_20993409_21548329	21052150	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0002 a0002c0002t0009g0002	1	132	0.0076	22	c.55+ others(39): Show c.55+53536_55+53557dupTTTTTTTTTTTTTTTTTTTTTT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21214746	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	1	132	0.0076	22	c.56- others(39): Show c.56-65831_56-65830insTATATATATATATATATACACA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21214746	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02615.hp1 HG00423.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0032 a0002c0002t0001g0086 a0001c0001t0001g0032 a0002c0002t0001g0086	2	132	0.0152	22	c.56- others(39): Show c.56-65831_56-65830insTATATATATATATATATATACA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21272934	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02451.hp1 HG03139.hp1 others(3): Show HG01361.hp1 HG02451.hp1 HG03139.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0021 a0001c0004t0036	a0001c0001t0002g0116 a0001c0001t0004g0012 a0001c0001t0004g0028 others(3): Show a0001c0001t0002g0116 a0001c0001t0004g0012 a0001c0001t0004g0028 a0001c0001t0005g0076 a0001c0001t0021g0110 a0001c0004t0036g0071	6	132	0.0455	22	c.56- others(37): Show c.56-7636_56-7615dupACACACACACACACACACACAC	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331517	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	132	0.0076	22	c.738 others(39): Show c.738-3987_738-3986insCTCTCTCTCTCTATATATATAT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21411105	T T	TATATATG others(15): Show TATATATGTATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02976.hp1 HG01975.hp2 HG02976.hp1	a0002 a0002	a0002c0008 a0002c0009 a0002c0008 a0002c0009	a0002c0008t0015 a0002c0009t0004 a0002c0008t0015 a0002c0009t0004	a0002c0008t0015g0129 a0002c0009t0004g0115 a0002c0008t0015g0129 a0002c0009t0004g0115	2	132	0.0152	22	c.138 others(39): Show c.1383+661_1383+662insCACACATATATGTATATATATA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21431123	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01346.hp1 HG01934.hp2 others(8): Show HG00673.hp1 HG01346.hp1 HG01934.hp2 HG02293.hp2 HG02622.hp2 HG02970.hp1 HG03209.hp1 HG03540.hp2 NA19090.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0006	a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 others(8): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0002t0015 a0002c0002t0025 a0002c0002t0031 a0002c0002t0035 a0002c0003t0017 a0003c0006t0003	a0001c0001t0002g0109 a0002c0002t0001g0019 a0002c0002t0003g0081 others(8): Show a0001c0001t0002g0109 a0002c0002t0001g0019 a0002c0002t0003g0081 a0002c0002t0004g0049 a0002c0002t0014g0119 a0002c0002t0015g0054 a0002c0002t0025g0087 a0002c0002t0031g0039 a0002c0002t0035g0052 a0002c0003t0017g0038 a0003c0006t0003g0030	11	132	0.0833	22	c.148 others(39): Show c.1481-983_1481-962dupGTGTGTGTGTGTGTGTGTGTGT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21437474	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02559.hp1 others(4): Show HG00639.hp2 HG01243.hp1 HG02559.hp1 HG02723.hp1 HG03195.hp2 NA18522.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0014 a0003c0005 a0001c0001 a0001c0014 a0003c0005	a0001c0001t0004 a0001c0001t0011 a0001c0001t0029 others(2): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0029 a0001c0014t0001 a0003c0005t0005	a0001c0001t0004g0090 a0001c0001t0011g0035 a0001c0001t0029g0061 others(4): Show a0001c0001t0004g0090 a0001c0001t0011g0035 a0001c0001t0029g0061 a0001c0014t0001g0041 a0003c0005t0005g0006 a0003c0005t0005g0064 a0003c0005t0005g0126	7	132	0.0530	22	c.165 others(41): Show c.1654+5199_1654+5220dupGTGTGTGTGTGTGTGTGTGTGT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21467412	G G	GTATATAT others(15): Show GTATATATATATCTTTATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0063 a0002c0002t0037g0063	1	132	0.0076	22	c.177 others(39): Show c.1774+702_1774+703insATATATATATATATATATCTTT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21467426	T T	TTATATAT others(15): Show TTATATATATATATATATCTTTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03579.hp2 HG02723.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0004 a0001c0001t0004 a0001c0007t0004	a0001c0001t0004g0090 a0001c0007t0004g0106 a0001c0001t0004g0090 a0001c0007t0004g0106	2	132	0.0152	22	c.177 others(39): Show c.1774+702_1774+703insATATATATATATATATCTTTAT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21479583	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	132	0.0076	22	c.207 others(41): Show c.2077+2116_2077+2137dupAAAAAAAAAAAAAAAAAAAAAA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAN_chr19_19206958_19257233	19244291	T T	TGTCTGAA others(15): Show TGTCTGAACCCTTACTGTTCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	318	0.0031	22	c.349 others(41): Show c.3493-1007_3493-1006insGTTCCCCGTCTGAACCCTTACT	NCAN	ENSG00000130287.14	transcript	ENST00000252575.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NCAPD2_chr12_6489102_6536955	6513715	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp2 HG03579.hp2 others(1): Show HG03453.hp1 HG03453.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0351 a0001c0001t0002g0354 a0001c0001t0002g0355 others(1): Show a0001c0001t0002g0351 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0003g0344	4	432	0.0093	22	c.588 others(37): Show c.588-532_588-531insTTTTTTTTTTTTTTTTTTTTTT	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	6/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCAPD2_chr12_6489102_6536955	6518504	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp2 HG02738.hp1 others(3): Show HG02129.hp1 HG02155.hp2 HG02738.hp1 HG03688.hp2 HG04228.hp1 NA18973.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0003c0010 a0005c0006 a0003c0003 a0003c0010 a0005c0006	a0003c0003t0003 a0003c0010t0001 a0005c0006t0003 a0003c0003t0003 a0003c0010t0001 a0005c0006t0003	a0003c0003t0003g0038 a0003c0003t0003g0067 a0003c0003t0003g0099 others(3): Show a0003c0003t0003g0038 a0003c0003t0003g0067 a0003c0003t0003g0099 a0003c0010t0001g0047 a0005c0006t0003g0125 a0005c0006t0003g0151	6	432	0.0139	22	c.158 others(39): Show c.1589+554_1589+575dupTTTTTTTTTTTTTTTTTTTTTT	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCAPD3_chr11_134145113_134228967	134212375	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp1 NA18972.hp2 HG03942.hp2 HG04115.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0057 a0001c0001t0002 a0001c0001t0003 a0001c0001t0057	a0001c0001t0002g0148 a0001c0001t0003g0126 a0001c0001t0057g0365 a0001c0001t0002g0148 a0001c0001t0003g0126 a0001c0001t0057g0365	3	370	0.0081	22	c.383 others(39): Show c.383-1943_383-1922dupCACACACACACACACACACACA	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	3/34			chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158660401	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02148.hp2 HG02040.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0001g0280 a0001c0001t0001g0291	2	378	0.0053	22	c.198 others(41): Show c.1989+1771_1989+1792dupAAAAAAAAAAAAAAAAAAAAAA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	16/27			chr7	TogoVar
NCBP2L_chrX_107772733_107800829	107781692	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	303	0.0033	22	c.-73 others(39): Show c.-73+3835_-73+3836insCTCTCTCTATATATATATATAT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107781692	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	303	0.0033	22	c.-73 others(39): Show c.-73+3835_-73+3836insCTCTCTCTCTATATATATATAT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107799948	A A	ATAGAGGC others(15): Show ATAGAGGCTCTTCTGCCACCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	303	0.0033	22	c.52 others(33): Show c.5266_*5267insTAGAGGCTCTTCTGCCACCTAT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding		4120		chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107800148	A A	AGTATCTT others(15): Show AGTATCTTTCAACCACTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	303	0.0033	22	c.54 others(33): Show c.5466_*5467insGTATCTTTCAACCACTCCTTCT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding		4320		chrX	TogoVar
NCEH1_chr3_172625249_172716067	172712727	C C	CCTGCCTC others(15): Show CCTGCCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18955.hp2 NA18944.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0016 a0001c0001t0011g0014 a0001c0001t0005g0016 a0001c0001t0011g0014	2	332	0.0060	22	c.-17 others(33): Show c.-1744_-1743insAGAGAGAGAGAGAGAGAGGCAG	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding		1661		chr3	TogoVar
NCF2_chr1_183550562_183595459	183585624	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	406	0.0025	22	c.257 others(39): Show c.257+1270_257+1271insTTTTTTTTTTTTTTTTTTTTTT	NCF2	ENSG00000116701.16	transcript	ENST00000367535.8	protein_coding	2/14			chr1	TogoVar
NCK2_chr2_105739912_105899272	105750037	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01361.hp2 HG01517.hp2 others(6): Show HG01255.hp2 HG01361.hp2 HG01517.hp2 HG02129.hp2 HG02970.hp1 HG03688.hp2 NA18941.hp2 NA18967.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0323 others(6): Show a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0323 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0005g0162 a0001c0001t0009g0167	9	334	0.0270	22	c.-20 others(41): Show c.-201+4909_-201+4930dupCACACACACACACACACACACA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105830691	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	334	0.0030	22	c.-17 others(41): Show c.-17+14099_-17+14100insATGTGTGTGTGTGTGTGTGTGT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105830693	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0055 a0001c0001t0023g0055	1	334	0.0030	22	c.-17 others(41): Show c.-17+14101_-17+14102insATGTGTGTGTGTGTGTGTGTGT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105835409	G G	GTGTGTAT others(15): Show GTGTGTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18971.hp2 NA18944.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0099 a0001c0001t0003g0100	2	334	0.0060	22	c.-17 others(41): Show c.-17+18797_-17+18798insGTGTATATATATATACGTATAT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0291 a0001c0004t0002g0291	1	350	0.0029	22	c.307 others(39): Show c.307-1056_307-1055insAAAAAAAAAAAATATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0253 a0001c0001t0042g0253	1	350	0.0029	22	c.307 others(39): Show c.307-1056_307-1055insAAAATATATATATATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	350	0.0029	22	c.307 others(39): Show c.307-1056_307-1055insAATATATATATATATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP5_chr2_132666788_133573463	132883205	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0043 a0013c0013t0001g0043	1	70	0.0143	22	c.580 others(39): Show c.580-4311_580-4290dupGTGTGTGTGTGTGTGTGTGTGT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	8/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	132920771	G G	GTATGTAT others(15): Show GTATGTATGTATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	70	0.0143	22	c.580 others(41): Show c.580-41856_580-41855insTATATATACACATACATACATA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	8/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133181603	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0003 a0011c0019t0003	a0011c0019t0003g0036 a0011c0019t0003g0036	1	70	0.0143	22	c.207 others(41): Show c.207+32091_207+32112dupTTTTTTTTTTTTTTTTTTTTTT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	5/19			chr2	TogoVar

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