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
NECAB1_chr8_90786775_90964393	90906887	A A	ATGTATAT others(21): Show ATGTATATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19001.hp1 NA18747.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0029 a0001c0001t0007g0039 a0001c0001t0002g0029 a0001c0001t0007g0039	2	248	0.0081	28	c.358 others(47): Show c.358-10604_358-10603insGTATATATATATATATATGTATGTAT GT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90917870	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0142 a0001c0001t0016g0142	1	248	0.0040	28	c.494 others(43): Show c.494+243_494+244insATATATATATATATATATATATATATGT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90917870	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0141 a0001c0001t0018g0141	1	248	0.0040	28	c.494 others(43): Show c.494+243_494+244insATATATATATATATATATATATATGTGT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90917870	A A	ATATATAT others(21): Show ATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp2 HG01517.hp2 others(9): Show HG00741.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG02738.hp1 NA18972.hp2 NA18985.hp1 NA19011.hp2 NA19058.hp1 NA19065.hp1 NA19082.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0027 a0001c0001t0049	a0001c0001t0002g0058 a0001c0001t0002g0070 a0001c0001t0002g0086 others(9): Show a0001c0001t0002g0058 a0001c0001t0002g0070 a0001c0001t0002g0086 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0007g0003 a0001c0001t0007g0073 a0001c0001t0011g0034 a0001c0001t0011g0071 a0001c0001t0016g0100 a0001c0001t0027g0108 a0001c0001t0049g0217	12	248	0.0484	28	c.494 others(43): Show c.494+243_494+244insATATATATATATATATATATATGTGTGT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90922486	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19030.hp2 NA20805.hp2 HG02717.hp1 NA19030.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0022 a0001c0001t0001 a0001c0001t0015 a0001c0001t0022	a0001c0001t0001g0079 a0001c0001t0015g0023 a0001c0001t0022g0110 a0001c0001t0001g0079 a0001c0001t0015g0023 a0001c0001t0022g0110	3	248	0.0121	28	c.495 others(45): Show c.495-3025_495-3024insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECTIN1_chr11_119655992_119734200	119671527	G G	GGGCTTAC others(21): Show GGGCTTACAGTCTGGATCTAGGATCTGGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	348	0.0029	28	c.100 others(47): Show c.1003+3604_1003+3631dupTCCAGATCCTAGATCCAGACTGTAAG CC	NECTIN1	ENSG00000110400.11	transcript	ENST00000264025.8	protein_coding	5/5			chr11	TogoVar
NEDD1_chr12_96902257_96958780	96932457	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01978.hp1 others(3): Show HG00280.hp1 HG01123.hp1 HG01978.hp1 NA18942.hp2 NA18963.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0002g0101 others(3): Show a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0002g0101 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0140	6	400	0.0150	28	c.490 others(45): Show c.490-2518_490-2517insTATATATATATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932459	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18984.hp2 NA19004.hp1 HG02004.hp2 NA18984.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0078 a0001c0001t0002g0115 a0001c0001t0002g0066 a0001c0001t0002g0078 a0001c0001t0002g0115	3	400	0.0075	28	c.490 others(45): Show c.490-2516_490-2515insTATATATATATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932461	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	400	0.0025	28	c.490 others(45): Show c.490-2514_490-2513insTATATATATATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	400	0.0025	28	c.490 others(45): Show c.490-2512_490-2511insAAAAAAAAAAAAAAAATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01978.hp2 NA18972.hp1 others(1): Show HG00438.hp2 HG01978.hp2 NA18972.hp1 NA19086.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0163 a0001c0001t0001g0234 a0001c0001t0001g0272 others(1): Show a0001c0001t0001g0163 a0001c0001t0001g0234 a0001c0001t0001g0272 a0006c0007t0001g0258	4	400	0.0100	28	c.490 others(45): Show c.490-2512_490-2511insAAAAAAAAAAAATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19068.hp2 NA19083.hp2 NA18999.hp2 NA19068.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0257 a0001c0001t0001g0008 a0001c0001t0001g0257	3	400	0.0075	28	c.490 others(45): Show c.490-2512_490-2511insAAAAAAAAAATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG06807.hp1 NA19077.hp1 HG02735.hp2 HG06807.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0149 a0001c0001t0004g0039 a0001c0001t0008g0269 a0001c0001t0002g0149 a0001c0001t0004g0039 a0001c0001t0008g0269	3	400	0.0075	28	c.490 others(45): Show c.490-2512_490-2511insAAAAAAAATATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	400	0.0025	28	c.490 others(45): Show c.490-2512_490-2511insAAAAAATATATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAATATA others(21): Show AAAATATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp2 HG02735.hp1 HG01099.hp1 HG01256.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0200 a0001c0001t0003g0208 a0001c0001t0003g0191 a0001c0001t0003g0200 a0001c0001t0003g0208	3	400	0.0075	28	c.490 others(45): Show c.490-2512_490-2511insAATATAAATATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	400	0.0025	28	c.490 others(45): Show c.490-2512_490-2511insAATATATATATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4_chr15_55821922_55998612	55869889	A A	AAATAAAT others(21): Show AAATAAATAAATCAATAAATAAATAAATC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0216 a0007c0014t0001g0216	1	344	0.0029	28	c.405 others(43): Show c.405-209_405-208insGATTTATTTATTTATTGATTTATTTATT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	7/28			chr15	TogoVar
NEDD4_chr15_55821922_55998612	55940518	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02129.hp2 HG03927.hp1 others(5): Show HG02056.hp1 HG02129.hp2 HG03927.hp1 NA18949.hp2 NA18950.hp1 NA18971.hp2 NA19080.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0003 a0002c0002t0011 a0002c0007t0003 a0002c0002t0003 a0002c0002t0011 a0002c0007t0003	a0002c0002t0003g0005 a0002c0002t0003g0022 a0002c0002t0003g0029 others(5): Show a0002c0002t0003g0005 a0002c0002t0003g0022 a0002c0002t0003g0029 a0002c0002t0003g0047 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0011g0288 a0002c0007t0003g0337	8	344	0.0233	28	c.237 others(47): Show c.237+10857_237+10858insGAGAGAGAGAGAGAGAGAGAGAGAGA GA	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	4/28			chr15	TogoVar
NEGR1_chr1_71390943_72287539	71597472	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	64	0.0156	28	c.789 others(45): Show c.789-4505_789-4504insCACACACACACACACAGAGAGAGAGAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71597472	C C	CTCTCTCT others(21): Show CTCTCTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	64	0.0156	28	c.789 others(45): Show c.789-4505_789-4504insCACACACACACACACACACACAGAGAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71675112	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02970.hp2 HG03225.hp1 others(3): Show HG01433.hp2 HG02970.hp2 HG03225.hp1 HG03516.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0001t0016 a0001c0001t0025 others(2): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0025 a0001c0003t0008 a0001c0003t0024	a0001c0001t0012g0012 a0001c0001t0016g0020 a0001c0001t0025g0052 others(3): Show a0001c0001t0012g0012 a0001c0001t0016g0020 a0001c0001t0025g0052 a0001c0003t0008g0013 a0001c0003t0008g0016 a0001c0003t0024g0021	6	64	0.0938	28	c.667 others(47): Show c.667+22895_667+22896insATATATATATATATATATATATATAT AT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71675126	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	64	0.0156	28	c.667 others(47): Show c.667+22881_667+22882insGTGTATATATATATATATATATATAT AT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71730569	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0057 a0001c0002t0014g0057	1	64	0.0156	28	c.536 others(47): Show c.536-32431_536-32430insTATATATATATATATATATATATATA TA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	3/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71834886	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0020 a0001c0001t0016g0020	1	64	0.0156	28	c.410 others(47): Show c.410-58590_410-58589insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71834887	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	64	0.0156	28	c.410 others(47): Show c.410-58591_410-58590insTGTGTGTGTGTGTGTGTGTGTGTGTG TG	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	72216388	T T	TATATATA others(21): Show TATATATATATACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp1 HG03579.hp2 HG02055.hp1 HG02896.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0001t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0050 a0001c0001t0003g0002 a0001c0004t0001g0003 a0001c0001t0001g0050 a0001c0001t0003g0002 a0001c0004t0001g0003	3	64	0.0469	28	c.176 others(47): Show c.176+65930_176+65931insGTGTATATATATATATGTATATATAT AT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEIL3_chr4_177304874_177367936	177348858	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0349 a0002c0002t0005g0349	1	408	0.0025	28	c.870 others(45): Show c.870-2495_870-2494insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NEIL3	ENSG00000109674.4	transcript	ENST00000264596.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
NEK10_chr3_27101484_27374383	27331262	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19068.hp1 HG02071.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0123 a0001c0002t0003g0130 a0001c0002t0003g0123 a0001c0002t0003g0130	2	234	0.0086	28	c.363 others(45): Show c.363-9002_363-9001insGTTTTTTTTTTTTTTTTTTTTTTTTTTT	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	5/35			chr3	TogoVar
NEK11_chr3_131021877_131355465	131317821	A A	AGGGAGGG others(21): Show AGGGAGGGGGAGGGGAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG02723.hp1 others(2): Show HG02559.hp1 HG02622.hp2 HG02723.hp1 HG03486.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0010c0012t0003 a0001c0001t0001 a0010c0012t0003	a0001c0001t0001g0128 a0001c0001t0001g0201 a0001c0001t0001g0202 others(2): Show a0001c0001t0001g0128 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0010c0012t0003g0272	5	292	0.0171	28	c.171 others(49): Show c.1719-31733_1719-31732insAGGGGGAGGGGAGGGGAAGGGGAG GGGG	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK1_chr4_169387809_169617583	169428351	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	260	0.0039	28	c.288 others(47): Show c.2886-2118_2886-2117insATATATATATATATATATATATATAT AT	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	29/35			chr4	TogoVar
NEK1_chr4_169387809_169617583	169445865	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	260	0.0039	28	c.258 others(47): Show c.2588-7607_2588-7606insGTATATATATATATATATATATATAT AT	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	27/35			chr4	TogoVar
NEK4_chr3_52703444_52775940	52752933	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0275 a0001c0001t0014g0275	1	318	0.0031	28	c.964 others(43): Show c.964-598_964-597insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NEK4	ENSG00000114904.13	transcript	ENST00000233027.10	protein_coding	6/15			chr3	TogoVar
NELL1_chr11_20664586_21580686	20721181	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp1 HG02630.hp2 others(1): Show HG00735.hp1 HG02145.hp1 HG02630.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0022 a0001c0001 a0001c0006 a0001c0022	a0001c0001t0001 a0001c0006t0002 a0001c0022t0001 a0001c0001t0001 a0001c0006t0002 a0001c0022t0001	a0001c0001t0001g0007 a0001c0001t0001g0071 a0001c0006t0002g0082 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0071 a0001c0006t0002g0082 a0001c0022t0001g0040	4	88	0.0455	28	c.184 others(47): Show c.184+43137_184+43138insTATATATATATATATATATATATATA TA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20970053	G G	GTCCGTCC others(21): Show GTCCGTCCGTCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01975.hp1 others(12): Show HG00642.hp1 HG00735.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03453.hp1 NA18906.hp2 NA18964.hp1 NA18999.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(6): Show a0001c0001 a0001c0005 a0001c0006 a0001c0011 a0002c0002 a0002c0003 a0002c0007 a0002c0009 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0006t0001 a0001c0011t0001 a0002c0002t0001 a0002c0003t0001 a0002c0007t0001 a0002c0009t0001 a0002c0010t0003	a0001c0001t0001g0072 a0001c0001t0002g0001 a0001c0005t0001g0015 others(12): Show a0001c0001t0001g0072 a0001c0001t0002g0001 a0001c0005t0001g0015 a0001c0005t0001g0025 a0001c0005t0001g0030 a0001c0006t0001g0039 a0001c0011t0001g0035 a0002c0002t0001g0051 a0002c0002t0001g0059 a0002c0002t0001g0073 a0002c0003t0001g0009 a0002c0003t0001g0048 a0002c0007t0001g0002 a0002c0009t0001g0063 a0002c0010t0003g0081	15	88	0.1705	28	c.130 others(47): Show c.1300+9496_1300+9497insGTCCGTCCATCCATCCATCCATCCAT CC	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20975581	C C	CACATATG others(21): Show CACATATGTAGATATAATGTATTATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 homoSapiens_chm13v2.hp1 HG01169.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0052 a0002c0003t0001g0060 a0002c0002t0001g0052 a0002c0003t0001g0060	2	88	0.0227	28	c.130 others(49): Show c.1300+15025_1300+15052dupTATGTAGATATAATGTATTATATA TACA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21232157	A A	ATAAAATA others(21): Show ATAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0011 a0001c0006t0001g0011	1	88	0.0114	28	c.154 others(47): Show c.1549+2703_1549+2704insTAAAATATATATATATATATATATAT AT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19			chr11	TogoVar
NELL1_chr11_20664586_21580686	21232159	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	88	0.0114	28	c.154 others(47): Show c.1549+2706_1549+2707insAAAAAATATATATATATATATATATA TA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21309284	A A	ATATATAT others(21): Show ATATATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0057 a0004c0012t0001g0057	1	88	0.0114	28	c.155 others(49): Show c.1550-61558_1550-61557insGTATATATATATATATGTATATAT ATAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21336670	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	88	0.0114	28	c.155 others(49): Show c.1550-34182_1550-34181insCACACACACACACACACACACACA CACA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21572481	T T	TATATTAT others(21): Show TATATTATAAGGTATTATGCCATAGATTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG01975.hp2 others(22): Show HG00735.hp1 HG01884.hp1 HG01975.hp2 HG02257.hp2 HG02258.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0001 a0001c0005 a0001c0006 others(9): Show a0001c0001 a0001c0005 a0001c0006 a0001c0024 a0002c0003 a0002c0007 a0002c0010 a0002c0014 a0003c0020 a0007c0018 a0008c0016 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0006t0002 a0001c0006t0003 a0001c0006t0007 a0001c0024t0003 a0002c0003t0001 a0002c0003t0004 a0002c0007t0001 a0002c0007t0005 a0002c0010t0003 a0002c0014t0001 a0003c0020t0001 a0007c0018t0001 a0008c0016t0002 a0009c0017t0005	a0001c0001t0001g0012 a0001c0001t0001g0071 a0001c0001t0001g0072 others(22): Show a0001c0001t0001g0012 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0002g0001 a0001c0001t0002g0076 a0001c0005t0001g0013 a0001c0005t0002g0026 a0001c0005t0004g0055 a0001c0006t0002g0082 a0001c0006t0003g0020 a0001c0006t0007g0014 a0001c0024t0003g0017 a0002c0003t0001g0003 a0002c0003t0001g0016 a0002c0003t0001g0034 a0002c0003t0001g0047 a0002c0003t0004g0044 a0002c0007t0001g0002 a0002c0007t0005g0004 a0002c0010t0003g0081 a0002c0014t0001g0023 a0003c0020t0001g0075 a0007c0018t0001g0045 a0008c0016t0002g0033 a0009c0017t0005g0027	25	88	0.2841	28	c.215 others(45): Show c.2158-699_2158-698insATAAGGTATTATGCCATAGATTAATATT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21573765	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGGAGGGAGGGAAAGAGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03471.hp2 HG02257.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0004 a0002c0003t0004 a0001c0005t0004 a0002c0003t0004	a0001c0005t0004g0055 a0002c0003t0004g0044 a0001c0005t0004g0055 a0002c0003t0004g0044	2	88	0.0227	28	c.238 others(45): Show c.2382+368_2382+395dupGAGGGAGGGAAAGAGGGAGGAAGGAAGG	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44503804	T T	TATATATA others(21): Show TATATATATATATATATATATATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	158	0.0063	28	c.51 others(39): Show c.5129_*5130insGCATATATATATATATATATATATATAT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding		4473		chr12	TogoVar
NELL2_chr12_44503278_44881315	44521529	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG02630.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0004 a0001c0001t0009 a0001c0002t0004	a0001c0001t0009g0001 a0001c0002t0004g0018 a0001c0001t0009g0001 a0001c0002t0004g0018	2	158	0.0127	28	c.217 others(45): Show c.2175+470_2175+471insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	18/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0029	1	158	0.0063	28	c.166 others(49): Show c.1663+19884_1663+19885insATATATATATATATATTTTTTTTT TTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44842109	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG02523.hp2 others(1): Show HG00558.hp2 HG02027.hp2 HG02523.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0008 a0001c0001t0004g0015 a0001c0001t0006g0039 others(1): Show a0001c0001t0004g0008 a0001c0001t0004g0015 a0001c0001t0006g0039 a0001c0001t0006g0047	4	158	0.0253	28	c.185 others(47): Show c.185-25974_185-25973insTCCTTCCTTCCTTCCTCCCTCCCTCC CT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	2/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44842109	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01081.hp2 others(16): Show HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01993.hp1 HG02300.hp1 HG02559.hp1 HG02615.hp1 HG03704.hp1 HG03704.hp2 NA19043.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 a0001c0001t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0081 others(16): Show a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0003g0084 a0001c0001t0003g0102 a0002c0004t0001g0086 a0002c0004t0001g0100	19	158	0.1203	28	c.185 others(47): Show c.185-25974_185-25973insTCCTTCCTTCCTCCCTCCCTCCCTCC CT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	2/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44842109	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01891.hp2 HG02135.hp2 HG00621.hp1 HG01891.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0125 a0001c0001t0003g0049 a0001c0001t0006g0032 a0001c0001t0001g0125 a0001c0001t0003g0049 a0001c0001t0006g0032	3	158	0.0190	28	c.185 others(47): Show c.185-25974_185-25973insTCCTTCCTCCCTCCCTCCCTCCCTCC CT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	2/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44842109	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	158	0.0063	28	c.185 others(47): Show c.185-25974_185-25973insTCCTCCCTCCCTCCCTCCCTCCCTCC CT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	2/19			chr12	TogoVar
NEMF_chr14_49777083_49857788	49806232	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	222	0.0045	28	c.174 others(44): Show c.1745-100_1745-99insTATATATATATATATATATATATATATA	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEMF_chr14_49777083_49857788	49806232	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0217 a0002c0003t0004g0217	1	222	0.0045	28	c.174 others(44): Show c.1745-100_1745-99insTATATATATATATATATATATATATACA	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar

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