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 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
NEB_chr2_151480339_151739476	151574722	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00609.hp1 others(22): Show HG00099.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG01175.hp2 HG01258.hp2 HG01515.hp1 HG01993.hp2 HG02451.hp2 HG02523.hp1 HG02886.hp1 HG03710.hp2 HG04115.hp1 NA18747.hp2 NA18945.hp2 NA18947.hp2 NA18953.hp2 NA18960.hp1 NA18966.hp1 NA18971.hp2 NA18984.hp2 NA19005.hp1 NA19010.hp2 NA19079.hp2 NA19080.hp2	a0002 a0007 a0020 others(13): Show a0002 a0007 a0020 a0024 a0026 a0038 a0085 a0108 a0109 a0111 a0112 a0117 a0118 a0125 a0127 a0130	a0002c0002 a0007c0003 a0020c0007 others(14): Show a0002c0002 a0007c0003 a0020c0007 a0024c0038 a0024c0040 a0026c0006 a0038c0086 a0085c0031 a0108c0047 a0109c0046 a0111c0049 a0112c0051 a0117c0039 a0118c0073 a0125c0028 a0127c0144 a0130c0150	a0002c0002t0001 a0007c0003t0001 a0020c0007t0001 others(14): Show a0002c0002t0001 a0007c0003t0001 a0020c0007t0001 a0024c0038t0001 a0024c0040t0001 a0026c0006t0001 a0038c0086t0001 a0085c0031t0001 a0108c0047t0001 a0109c0046t0001 a0111c0049t0001 a0112c0051t0001 a0117c0039t0001 a0118c0073t0001 a0125c0028t0001 a0127c0144t0001 a0130c0150t0001	a0002c0002t0001g0026 a0002c0002t0001g0036 a0002c0002t0001g0039 others(22): Show a0002c0002t0001g0026 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0060 a0007c0003t0001g0002 a0007c0003t0001g0029 a0020c0007t0001g0042 a0020c0007t0001g0043 a0024c0038t0001g0085 a0024c0040t0001g0062 a0026c0006t0001g0079 a0038c0086t0001g0007 a0085c0031t0001g0108 a0108c0047t0001g0064 a0109c0046t0001g0048 a0111c0049t0001g0073 a0112c0051t0001g0072 a0117c0039t0001g0063 a0118c0073t0001g0051 a0125c0028t0001g0031 a0127c0144t0001g0129 a0130c0150t0001g0180	25	188	0.1330	20	c.170 others(39): Show c.17013+953_17013+972dupTAAATAAATAAATAAATAAA	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	107/181			chr2	TogoVar
NECAB1_chr8_90786775_90964393	90917870	A A	ATATATAT others(13): Show ATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0114 a0001c0001t0054g0114	1	248	0.0040	20	c.494 others(35): Show c.494+243_494+244insATATATATATATATATGTGT	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(13): Show ATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02132.hp2 HG03239.hp2 others(4): Show HG00621.hp2 HG02132.hp2 HG03239.hp2 HG04228.hp1 NA18944.hp1 NA19030.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0047 a0001c0001t0052	a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0008g0044 others(4): Show a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0008g0044 a0001c0001t0015g0023 a0001c0001t0015g0206 a0001c0001t0047g0059 a0001c0001t0052g0050	7	248	0.0282	20	c.494 others(35): Show c.494+243_494+244insATATATATATATATGTGTGT	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(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0238 a0001c0001t0019g0238	1	248	0.0040	20	c.495 others(37): Show c.495-3044_495-3025dupTTTTTTTTTTTTTTTTTTTT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90955112	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	248	0.0040	20	c.103 others(37): Show c.1031-357_1031-338dupATATATATATATATATATAT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB2_chr16_83963244_84007776	83985313	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18953.hp1 NA18971.hp2 others(1): Show HG01243.hp2 NA18953.hp1 NA18971.hp2 NA19079.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0003 a0004c0005t0005 a0003c0004t0003 a0004c0005t0005	a0003c0004t0003g0035 a0004c0005t0005g0270 a0004c0005t0005g0271 others(1): Show a0003c0004t0003g0035 a0004c0005t0005g0270 a0004c0005t0005g0271 a0004c0005t0005g0278	4	354	0.0113	20	c.459 others(37): Show c.459+4200_459+4219dupAAAAAAAAAAAAAAAAAAAA	NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
NECTIN1_chr11_119655992_119734200	119692411	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18964.hp1 NA18969.hp1 others(1): Show NA18612.hp2 NA18964.hp1 NA18969.hp1 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0163 a0002c0002t0006g0284 a0002c0002t0006g0018 a0002c0002t0006g0163 a0002c0002t0006g0284	4	348	0.0115	20	c.80- others(37): Show c.80-13666_80-13647dupCACACACACACACACACACA	NECTIN1	ENSG00000110400.11	transcript	ENST00000264025.8	protein_coding	1/5			chr11	TogoVar
NEDD1_chr12_96902257_96958780	96932457	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp2 HG01071.hp2 others(4): Show HG00673.hp1 HG01070.hp2 HG01071.hp2 HG03239.hp1 HG03704.hp2 NA19011.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0061 a0001c0001t0002g0085 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0061 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0002g0111 a0001c0001t0002g0138	7	400	0.0175	20	c.490 others(37): Show c.490-2518_490-2517insTATATATATATATATATATA	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(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	400	0.0025	20	c.490 others(37): Show c.490-2516_490-2515insTATATATATATATATATATA	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(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0329 a0001c0001t0006g0329	1	400	0.0025	20	c.490 others(37): Show c.490-2512_490-2511insAAAAAAAAAAAATATATATA	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(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp2 HG03130.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0382 a0001c0001t0001g0377 a0001c0001t0001g0382	2	400	0.0050	20	c.490 others(37): Show c.490-2512_490-2511insAAAAAAAAAATATATATATA	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(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	400	0.0025	20	c.490 others(37): Show c.490-2512_490-2511insAAAAAATATATATATATATA	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(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	400	0.0025	20	c.490 others(37): Show c.490-2512_490-2511insAATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4L_chr18_58039226_58406539	58082102	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	118	0.0085	20	c.48+ others(37): Show c.48+37395_48+37396insATATTTTTTTTTTTTTTTTT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58082102	A A	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp2 HG02056.hp1 others(4): Show HG00099.hp2 HG01346.hp2 HG02056.hp1 HG03704.hp1 HG03834.hp1 NA19004.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0029 a0001c0001t0033	a0001c0001t0001g0015 a0001c0001t0002g0054 a0001c0001t0004g0038 others(4): Show a0001c0001t0001g0015 a0001c0001t0002g0054 a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0022g0052 a0001c0001t0029g0016 a0001c0001t0033g0049	7	118	0.0593	20	c.48+ others(37): Show c.48+37395_48+37396insATTTTTTTTTTTTTTTTTTT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58095477	G G	GCAGAGAG others(13): Show GCAGAGAGGCAGTGAGAGACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG00741.hp1 others(42): Show HG00099.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02004.hp1 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0034 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0002t0025 a0001c0004t0004	a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0084 others(42): Show a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0002g0035 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0022 a0001c0001t0003g0040 a0001c0001t0003g0064 a0001c0001t0003g0095 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0090 a0001c0001t0005g0097 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0007g0057 a0001c0001t0007g0092 a0001c0001t0007g0104 a0001c0001t0011g0105 a0001c0001t0012g0114 a0001c0001t0013g0004 a0001c0001t0013g0089 a0001c0001t0014g0108 a0001c0001t0015g0032 a0001c0001t0019g0036 a0001c0001t0023g0118 a0001c0001t0027g0103 a0001c0001t0030g0055 a0001c0001t0034g0023 a0001c0001t0042g0063 a0001c0001t0043g0019 a0001c0001t0044g0020 a0001c0001t0045g0021 a0001c0001t0049g0008 a0001c0002t0025g0098 a0001c0004t0004g0116	45	118	0.3814	20	c.48+ others(37): Show c.48+50771_48+50772insGAGAGGCAGTGAGAGACACA	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58151625	A A	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	118	0.0085	20	c.49- others(37): Show c.49-14162_49-14161insATGTGTGTGTGTGTGTGTGT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58151625	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp2 HG03139.hp1 others(3): Show HG00099.hp1 HG01071.hp2 HG03139.hp1 HG03579.hp2 NA18951.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0030	a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0002g0079 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0002g0079 a0001c0001t0012g0114 a0001c0001t0014g0108 a0001c0001t0030g0055	6	118	0.0509	20	c.49- others(37): Show c.49-14149_49-14130dupGTGTGTGTGTGTGTGTGTGT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4_chr15_55821922_55998612	55839999	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0092 a0001c0001t0021g0092	1	344	0.0029	20	c.203 others(37): Show c.2031+447_2031+448insATATATATATATTTTTTTTT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28			chr15	TogoVar
NEDD4_chr15_55821922_55998612	55940518	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0244 a0002c0002t0003g0244	1	344	0.0029	20	c.237 others(39): Show c.237+10838_237+10857dupGAGAGAGAGAGAGAGAGAGA	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	4/28			chr15	TogoVar
NEFH_chr22_29475218_29496390	29483827	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0072 a0001c0005t0001g0072	1	448	0.0022	20	c.108 others(37): Show c.1083+273_1083+292dupATTTATTTATTTATTTATTT	NEFH	ENSG00000100285.10	transcript	ENST00000310624.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
NEGR1_chr1_71390943_72287539	71559019	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0014 a0001c0003t0002g0014	1	64	0.0156	20	c.940 others(39): Show c.940+33797_940+33798insTATATATACACACACACACA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	6/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71560429	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA20129.hp1 HG01934.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0033 a0001c0001t0004g0029 a0001c0001t0002g0033 a0001c0001t0004g0029	2	64	0.0313	20	c.940 others(39): Show c.940+32387_940+32388insTATATATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	6/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71597472	C C	CTCTCTCT others(13): Show CTCTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0064 a0002c0007t0001g0064	1	64	0.0156	20	c.789 others(37): Show c.789-4505_789-4504insCACACACACACAGAGAGAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71597472	C C	CTCTCTCT others(13): Show CTCTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG03579.hp2 HG00741.hp1 HG01109.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0002g0026 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0002g0026	3	64	0.0469	20	c.789 others(37): Show c.789-4505_789-4504insCACACACACACACAGAGAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71597472	C C	CTCTCTGT others(13): Show CTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	64	0.0156	20	c.789 others(37): Show c.789-4505_789-4504insCACACACACACACACAGAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71597472	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	64	0.0156	20	c.789 others(37): Show c.789-4524_789-4505dupCACACACACACACACACACA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71675112	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	64	0.0156	20	c.667 others(39): Show c.667+22895_667+22896insATATATATATATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71675126	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02559.hp2 HG03453.hp1 others(1): Show HG01993.hp1 HG02559.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0023	a0001c0001t0001g0024 a0001c0001t0006g0004 a0001c0001t0011g0031 others(1): Show a0001c0001t0001g0024 a0001c0001t0006g0004 a0001c0001t0011g0031 a0001c0001t0023g0062	4	64	0.0625	20	c.667 others(39): Show c.667+22881_667+22882insGTGTATATATATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71688309	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0058 a0001c0005t0005g0058	1	64	0.0156	20	c.667 others(37): Show c.667+9698_667+9699insATATATATATATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71730569	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0005 a0001c0002t0010g0005	1	64	0.0156	20	c.536 others(39): Show c.536-32450_536-32431dupTATATATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	3/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71744284	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	64	0.0156	20	c.535 others(39): Show c.535+31887_535+31888insATATATATATATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	3/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71811858	A A	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG03195.hp2 others(1): Show HG01109.hp1 HG02647.hp1 HG03195.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0003g0030 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0003g0030 a0001c0001t0004g0029	4	64	0.0625	20	c.410 others(39): Show c.410-35581_410-35562dupATAAAATAAAATAAAATAAA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71834887	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02280.hp1 others(7): Show HG01109.hp1 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG03041.hp1 HG03041.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0002t0014 a0001c0005t0005	a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0006g0051 others(7): Show a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0006g0051 a0001c0001t0022g0032 a0001c0001t0027g0006 a0001c0002t0002g0053 a0001c0002t0004g0017 a0001c0002t0010g0005 a0001c0002t0014g0057 a0001c0005t0005g0058	10	64	0.1563	20	c.410 others(39): Show c.410-58610_410-58591dupTGTGTGTGTGTGTGTGTGTG	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71927818	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20300.hp1 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0025 a0001c0001t0012 a0001c0001t0025	a0001c0001t0012g0012 a0001c0001t0025g0052 a0001c0001t0012g0012 a0001c0001t0025g0052	2	64	0.0313	20	c.409 others(37): Show c.409+7241_409+7260dupTTTTTTTTTTTTTTTTTTTT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71988923	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	64	0.0156	20	c.177 others(39): Show c.177-53632_177-53613dupTTTTTTTTTTTTTTTTTTTT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	72079086	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	64	0.0156	20	c.177 others(41): Show c.177-143795_177-143776dupATATATATATATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEIL1_chr15_75342039_75362115	75353224	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	396	0.0025	20	c.719 others(35): Show c.719-508_719-489dupACACACACACACACACACAC	NEIL1	ENSG00000140398.14	transcript	ENST00000355059.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEIL2_chr8_11764710_11792345	11767050	G G	GGAAGGAA others(13): Show GGAAGGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0037 a0001c0001t0015g0037	1	446	0.0022	20	c.-32 others(31): Show c.-3288_-3287insGAAGGAAAGAAAGAAAGAAA	NEIL2	ENSG00000154328.16	transcript	ENST00000284503.7	protein_coding		2659		chr8	TogoVar
NEIL3_chr4_177304874_177367936	177348858	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19087.hp2 NA19078.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0109 a0002c0002t0001g0016 a0002c0002t0001g0109	2	408	0.0049	20	c.870 others(37): Show c.870-2514_870-2495dupTTTTTTTTTTTTTTTTTTTT	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(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0132 a0001c0002t0003g0132	1	234	0.0043	20	c.363 others(37): Show c.363-9002_363-9001insGTTTTTTTTTTTTTTTTTTT	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	5/35			chr3	TogoVar
NEK11_chr3_131021877_131355465	131195793	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp2 HG02258.hp1 others(6): Show HG01109.hp2 HG01952.hp2 HG02258.hp1 HG02486.hp2 HG02895.hp1 HG02896.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0006c0008t0001 a0001c0001t0001 a0002c0002t0001 a0006c0008t0001	a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 others(6): Show a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0085 a0006c0008t0001g0073	9	292	0.0308	20	c.139 others(41): Show c.1399+24914_1399+24933dupTATATATATATATATATATA	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131272463	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18747.hp2 NA19030.hp1 HG04184.hp1 NA18747.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0003 a0003c0004	a0003c0003t0001 a0003c0004t0001 a0003c0003t0001 a0003c0004t0001	a0003c0003t0001g0242 a0003c0003t0001g0273 a0003c0004t0001g0284 a0003c0003t0001g0242 a0003c0003t0001g0273 a0003c0004t0001g0284	3	292	0.0103	20	c.162 others(38): Show c.1622-1004_1622-985dupTTTTTTTTTTTTTTTTTTTT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK1_chr4_169387809_169617583	169428351	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01175.hp2 others(6): Show HG00733.hp2 HG01168.hp1 HG01175.hp2 HG02129.hp1 HG02132.hp1 HG02738.hp1 HG03579.hp2 NA19007.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0004 a0001c0016t0013 a0001c0001t0001 a0001c0001t0004 a0001c0016t0013	a0001c0001t0001g0159 a0001c0001t0001g0189 a0001c0001t0001g0212 others(6): Show a0001c0001t0001g0159 a0001c0001t0001g0189 a0001c0001t0001g0212 a0001c0001t0001g0222 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0004g0023 a0001c0016t0013g0214	9	260	0.0346	20	c.288 others(39): Show c.2886-2137_2886-2118dupATATATATATATATATATAT	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	29/35			chr4	TogoVar
NEK1_chr4_169387809_169617583	169513966	G G	GTTATTTA others(13): Show GTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp1 HG02622.hp2 others(3): Show HG01358.hp2 HG01884.hp1 HG02622.hp2 HG03098.hp2 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0005 a0001c0005t0002 a0001c0003t0005 a0001c0005t0002	a0001c0003t0005g0003 a0001c0003t0005g0006 a0001c0003t0005g0011 others(3): Show a0001c0003t0005g0003 a0001c0003t0005g0006 a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0014 a0001c0005t0002g0128	6	260	0.0231	20	c.166 others(39): Show c.1666-5134_1666-5115dupATAAATAAATAAATAAATAA	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	19/35			chr4	TogoVar
NEK1_chr4_169387809_169617583	169590321	T T	TAGACAGA others(13): Show TAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA21309.hp1 HG02976.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0148 a0001c0001t0002g0149	2	260	0.0077	20	c.396 others(35): Show c.396+385_396+404dupGTCTGTCTGTCTGTCTGTCT	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	6/35			chr4	TogoVar
NEK3_chr13_52127647_52164597	52146348	A A	AATGACAA others(13): Show AATGACAAATACTACTGAATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00621.hp1 others(15): Show HG00323.hp1 HG00408.hp2 HG00621.hp1 HG00733.hp2 HG01081.hp2 HG01261.hp2 HG01358.hp1 HG02132.hp1 HG02135.hp1 HG02293.hp2 HG02738.hp1 HG06807.hp1 NA18941.hp1 NA18970.hp2 NA18991.hp1 NA18999.hp1 NA19055.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0031 a0002c0002t0001g0057 others(3): Show a0002c0002t0001g0004 a0002c0002t0001g0031 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061	18	398	0.0452	20	c.604 others(37): Show c.604-1477_604-1458dupGATTCAGTAGTATTTGTCAT	NEK3	ENSG00000136098.18	transcript	ENST00000610828.5	protein_coding	8/15			chr13	TogoVar
NEK3_chr13_52127647_52164597	52160452	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0019 a0004c0005t0001g0019	1	398	0.0025	20	c.-96 others(29): Show c.-968_-967insATATATATATTTTTTTTTTT	NEK3	ENSG00000136098.18	transcript	ENST00000610828.5	protein_coding		856		chr13	TogoVar
NEK4_chr3_52703444_52775940	52724232	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03130.hp1 HG03195.hp1 others(1): Show HG01074.hp1 HG03130.hp1 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0007 a0001c0001t0012 a0001c0003t0007	a0001c0001t0012g0023 a0001c0001t0012g0025 a0001c0003t0007g0289 others(1): Show a0001c0001t0012g0023 a0001c0001t0012g0025 a0001c0003t0007g0289 a0001c0003t0007g0295	4	318	0.0126	20	c.243 others(41): Show c.2434-12383_2434-12364dupGTGTGTGTGTGTGTGTGTGT	NEK4	ENSG00000114904.13	transcript	ENST00000233027.10	protein_coding	15/15			chr3	TogoVar
NEK4_chr3_52703444_52775940	52752917	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01975.hp1 NA18957.hp2 HG01496.hp2 HG01975.hp1 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0208 a0002c0002t0002g0214 a0002c0002t0010g0258 a0002c0002t0002g0208 a0002c0002t0002g0214 a0002c0002t0010g0258	3	318	0.0094	20	c.964 others(35): Show c.964-582_964-581insATATATTTTTTTTTTTTTTT	NEK4	ENSG00000114904.13	transcript	ENST00000233027.10	protein_coding	6/15			chr3	TogoVar

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