Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
NDRG3_chr20_36646771_36751090	36715004	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	298	0.0034	-28	c.57+ others(43): Show c.57+6647_57+6674delTATATATATATATATATATATATATACA	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	2/15			chr20	TogoVar
NDST3_chr4_118029486_118263634	118066333	ATATATAT others(21): Show ATATATATTATATATCATATATCATATGT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02486.hp1 HG02572.hp2 others(1): Show HG01433.hp1 HG02486.hp1 HG02572.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0116 a0001c0001t0001g0150 a0001c0001t0001g0165 others(1): Show a0001c0001t0001g0116 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0003t0002g0152	4	216	0.0185	-28	c.981 others(47): Show c.981+11541_981+11568delCATATATCATATGTTATATATTATAT AT	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST3_chr4_118029486_118263634	118238155	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18966.hp2 NA19007.hp2 HG02896.hp1 NA18966.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0146 a0001c0002t0001g0091 a0001c0001t0001g0120 a0001c0001t0001g0146 a0001c0002t0001g0091	3	216	0.0139	-28	c.211 others(46): Show c.2118+979_2118+1006delGAAAGAAAGAAAGAAAGAAAGAAAGAA A	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST3_chr4_118029486_118263634	118238199	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0113 a0001c0001t0020g0113	1	216	0.0046	-28	c.211 others(46): Show c.2118+981_2118+1008delAAGAAAGAAAGAAAGAAAGAAAGAAAA A	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDUFA7_chr19_8306284_8326375	8315724	TATACTTT others(21): Show TATACTTTGTCTGTGTCTCTTTCTTTTCC	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	402	0.0025	-28	c.251 others(43): Show c.251+744_251+771delGGAAAAGAAAGAGACACAGACAAAGTAT	NDUFA7	ENSG00000267855.6	transcript	ENST00000301457.3	protein_coding	3/3			chr19	TogoVar
NDUFB8_chr10_100518740_100534871	100525615	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	362	0.0028	-28	c.468 others(43): Show c.468+756_468+783delACACACACACACACACACACACACACAC	NDUFB8	ENSG00000166136.16	transcript	ENST00000299166.9	protein_coding	4/4			chr10	TogoVar
NDUFS5_chr1_39021350_39039615	39024902	TTATATAT others(21): Show TTATATATATATATATTTATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	438	0.0023	-28	c.-15 others(39): Show c.-1502_-1475delTATATATATATATATTTATATATATATA	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1447		chr1	TogoVar
NDUFS5_chr1_39021350_39039615	39024918	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(78): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01261.hp2 HG01433.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02258.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18959.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062	81	438	0.1849	-28	c.-14 others(39): Show c.-1486_-1459delTATATATATATATATATATATATATATA	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1431		chr1	TogoVar
NEB_chr2_151480339_151739476	151620343	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG03098.hp1 others(1): Show HG02647.hp2 HG02809.hp2 HG03098.hp1 NA18906.hp1	a0013 a0087 a0122 a0013 a0087 a0122	a0013c0014 a0087c0132 a0122c0033 a0013c0014 a0087c0132 a0122c0033	a0013c0014t0001 a0087c0132t0001 a0122c0033t0001 a0013c0014t0001 a0087c0132t0001 a0122c0033t0001	a0013c0014t0001g0099 a0013c0014t0001g0102 a0087c0132t0001g0101 others(1): Show a0013c0014t0001g0099 a0013c0014t0001g0102 a0087c0132t0001g0101 a0122c0033t0001g0087	4	188	0.0213	-28	c.105 others(47): Show c.10560+548_10560+575delTATATATATATATATATATATATACA CA	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	72/181			chr2	TogoVar
NECTIN1_chr11_119655992_119734200	119670784	CTACAGGC others(21): Show CTACAGGCACGCACTGCCACACCCGGCTA	C C	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+4347_1003+4374delTAGCCGGGTGTGGCAGTGCGTGCCTG TA	NECTIN1	ENSG00000110400.11	transcript	ENST00000264025.8	protein_coding	5/5			chr11	TogoVar
NEDD1_chr12_96902257_96958780	96930187	ACACACAC others(21): Show ACACACACACACACACACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18959.hp2 HG02572.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0003 a0001c0001t0006 a0002c0003t0003	a0001c0001t0006g0332 a0002c0003t0003g0188 a0001c0001t0006g0332 a0002c0003t0003g0188	2	400	0.0050	-28	c.490 others(45): Show c.490-4787_490-4760delACACACACACACACACACACACACTCTC	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930189	ACACACAC others(21): Show ACACACACACACACACACACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0329 a0001c0001t0006g0329	1	400	0.0025	-28	c.490 others(45): Show c.490-4785_490-4758delACACACACACACACACACACACTCTCTC	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930191	ACACACAC others(21): Show ACACACACACACACACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0334 a0001c0006t0006g0334	1	400	0.0025	-28	c.490 others(45): Show c.490-4783_490-4756delACACACACACACACACACACTCTCTCTC	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4L_chr18_58039226_58406539	58186082	CACAGAGA others(21): Show CACAGAGAAGGATACGTATGCACACGGGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02258.hp2 others(9): Show HG01891.hp1 HG02109.hp2 HG02258.hp2 HG02622.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0034 a0001c0001t0044	a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0001g0088 others(9): Show a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0003g0064 a0001c0001t0005g0083 a0001c0001t0007g0104 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0034g0023 a0001c0001t0044g0020	12	118	0.1017	-28	c.122 others(47): Show c.122+20234_122+20261delACGTATGCACACGGGAACAGAGAAGG AT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4_chr15_55821922_55998612	55839991	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG00735.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0006g0259 a0001c0003t0002g0329 a0001c0001t0006g0259 a0001c0003t0002g0329	2	344	0.0058	-28	c.203 others(45): Show c.2031+428_2031+455delATATATATATATATATATATTTTTTTTT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28			chr15	TogoVar
NEDD4_chr15_55821922_55998612	55839993	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp1 HG01071.hp2 others(43): Show HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01261.hp2 HG01358.hp1 HG01884.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02622.hp1 HG02683.hp2 HG02886.hp2 HG02895.hp1 HG03130.hp2 HG03209.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp2 NA18940.hp2 NA18946.hp1 NA18953.hp2 NA18955.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18972.hp2 NA18973.hp2 NA18979.hp2 NA18984.hp2 NA18987.hp1 NA19000.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19064.hp2 NA19086.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0002 a0002c0002t0002 a0003c0008t0002	a0001c0001t0002g0058 a0001c0001t0002g0142 a0001c0001t0003g0231 others(43): Show a0001c0001t0002g0058 a0001c0001t0002g0142 a0001c0001t0003g0231 a0001c0001t0009g0134 a0001c0001t0009g0230 a0001c0001t0009g0232 a0001c0001t0009g0268 a0001c0003t0002g0297 a0001c0003t0002g0305 a0001c0003t0002g0306 a0001c0003t0002g0308 a0001c0003t0002g0309 a0001c0003t0002g0310 a0001c0003t0002g0313 a0001c0003t0002g0314 a0001c0003t0002g0316 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0003t0002g0322 a0001c0003t0002g0323 a0001c0003t0002g0325 a0001c0003t0002g0327 a0001c0003t0002g0328 a0001c0003t0002g0330 a0001c0003t0002g0333 a0001c0003t0002g0334 a0001c0003t0002g0335 a0001c0003t0002g0336 a0001c0003t0002g0338 a0001c0003t0002g0339 a0001c0003t0002g0340 a0001c0003t0002g0341 a0001c0003t0002g0342 a0002c0002t0002g0001 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0054 a0003c0008t0002g0298 a0003c0008t0002g0299 a0003c0008t0002g0300 a0003c0008t0002g0303 a0003c0008t0002g0304	46	344	0.1337	-28	c.203 others(45): Show c.2031+426_2031+453delATATATATATATATATATATATTTTTTT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28			chr15	TogoVar
NEDD4_chr15_55821922_55998612	55839995	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02155.hp1 NA18939.hp2 others(1): Show HG02132.hp2 HG02155.hp1 NA18939.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0003t0002g0315 others(1): Show a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0003t0002g0315 a0001c0003t0002g0326	4	344	0.0116	-28	c.203 others(45): Show c.2031+424_2031+451delATATATATATATATATATATATATTTTT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28			chr15	TogoVar
NEDD4_chr15_55821922_55998612	55892266	CAATAAAT others(21): Show CAATAAATAAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0123 a0005c0012t0001g0123	1	344	0.0029	-28	c.292 others(47): Show c.292-18286_292-18259delTATTTATTTATTTATTTATTTATTTA TT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	5/28			chr15	TogoVar
NEGR1_chr1_71390943_72287539	71942976	AAGTATAT others(21): Show AAGTATATATGTGTATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG02055.hp1 HG00597.hp2 HG00639.hp1 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0007 a0001c0001 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0004t0001 a0002c0007t0001 a0001c0001t0001 a0001c0004t0001 a0002c0007t0001	a0001c0001t0001g0036 a0001c0004t0001g0003 a0002c0007t0001g0064 a0001c0001t0001g0036 a0001c0004t0001g0003 a0002c0007t0001g0064	3	64	0.0469	-28	c.177 others(45): Show c.177-7693_177-7666delCACACACATATATATACACATATATACT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEK10_chr3_27101484_27374383	27364348	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01261.hp2 others(9): Show HG00738.hp1 HG01243.hp1 HG01261.hp2 HG01934.hp2 HG02486.hp1 HG02683.hp2 HG03041.hp1 HG03239.hp2 HG03710.hp2 HG03927.hp1 HG04228.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0004c0005 a0004c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0025 a0001c0001t0043 a0001c0002t0004 a0001c0007t0016 a0001c0007t0030 a0004c0005t0005 a0004c0027t0006	a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0002g0150 others(9): Show a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0002g0150 a0001c0001t0011g0147 a0001c0001t0011g0148 a0001c0001t0025g0001 a0001c0001t0043g0155 a0001c0002t0004g0154 a0001c0007t0016g0159 a0001c0007t0030g0146 a0004c0005t0005g0152 a0004c0027t0006g0153	12	234	0.0513	-28	c.-38 others(45): Show c.-38+4849_-38+4876delCACACACACACACACACACACACACACA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	1/35			chr3	TogoVar
NEK11_chr3_131021877_131355465	131115902	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0102 a0012c0016t0001g0102	1	292	0.0034	-28	c.455 others(45): Show c.455+6041_455+6068delCTTTCTTTCTTTCTTTCTTTCTTTCTTT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131203765	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02559.hp2 HG02615.hp1 others(1): Show HG01255.hp1 HG02559.hp2 HG02615.hp1 HG03491.hp2	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0005 a0003c0004 a0010c0009 a0002c0005 a0003c0004 a0010c0009	a0002c0005t0001 a0003c0004t0001 a0010c0009t0001 a0002c0005t0001 a0003c0004t0001 a0010c0009t0001	a0002c0005t0001g0162 a0002c0005t0001g0164 a0003c0004t0001g0274 others(1): Show a0002c0005t0001g0162 a0002c0005t0001g0164 a0003c0004t0001g0274 a0010c0009t0001g0166	4	292	0.0137	-28	c.140 others(49): Show c.1400-24761_1400-24734delGTATATATATATATATATATATAT ATAT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK6_chr9_124252949_124358307	124289187	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	368	0.0027	-28	c.-29 others(47): Show c.-29-12725_-29-12698delACACACACACACACACACACACACAC AC	NEK6	ENSG00000119408.17	transcript	ENST00000320246.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEK7_chr1_198151998_198327420	198157330	GGGCCGCC others(21): Show GGGCCGCCTGCGGGAGTCGGGCCGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0340 a0001c0001t0004g0340	1	346	0.0029	-28	c.-29 others(41): Show c.-29+57_-29+84delCCGCCTGCGGGAGTCGGGCCGGGAGAGG	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEK7_chr1_198151998_198327420	198252541	TATATATA others(21): Show TATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00735.hp1 others(89): Show HG00323.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02080.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG04204.hp1 NA18945.hp2 NA18957.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA19000.hp2 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023	a0001c0001t0001g0004 a0001c0001t0001g0183 a0001c0001t0001g0184 others(88): Show a0001c0001t0001g0004 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0250 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0012g0268 a0001c0001t0013g0339 a0001c0001t0019g0187 a0001c0001t0020g0265 a0001c0001t0021g0203 a0001c0001t0023g0293	92	346	0.2659	-28	c.58- others(41): Show c.58-497_58-470delTATATATATATATATATATATATATAAA	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NELFCD_chr20_58976256_59000113	58978526	GCATCTTC others(21): Show GCATCTTCCCTGCCCCTGTTCCTGGCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02922.hp2 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	438	0.0046	-28	c.-27 others(39): Show c.-2783_-2756delCATCTTCCCTGCCCCTGTTCCTGGCCCC	NELFCD	ENSG00000101158.15	transcript	ENST00000652272.2	protein_coding		2729		chr20	TogoVar
NELL1_chr11_20664586_21580686	20755865	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0035 a0001c0011t0001g0035	1	88	0.0114	-28	c.185 others(47): Show c.185-27799_185-27772delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44791183	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG03195.hp2 others(3): Show HG02572.hp2 HG02723.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0054 a0001c0001t0001g0108 a0001c0001t0002g0060 others(3): Show a0001c0001t0001g0054 a0001c0001t0001g0108 a0001c0001t0002g0060 a0001c0001t0002g0090 a0001c0001t0002g0127 a0001c0001t0005g0026	6	158	0.0380	-28	c.336 others(47): Show c.336-11189_336-11162delATATATATATATATATATATATATAT AT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19			chr12	TogoVar
NET1_chr10_5407557_5464056	5435506	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(143): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02738.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0001c0013 a0001c0015 a0002c0002 a0003c0004 a0004c0006 a0004c0011 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 a0001c0003t0001 a0001c0003t0014 a0001c0003t0017 a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 a0001c0015t0018 a0002c0002t0005 a0003c0004t0001 a0003c0004t0019 a0004c0006t0001 a0004c0011t0001 a0007c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(128): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0299 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0002g0021 a0001c0001t0002g0200 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0010g0094 a0001c0001t0010g0152 a0001c0001t0021g0030 a0001c0001t0022g0257 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0245 a0001c0003t0014g0035 a0001c0003t0017g0089 a0001c0007t0001g0041 a0001c0007t0001g0043 a0001c0010t0001g0019 a0001c0013t0001g0318 a0001c0015t0018g0020 a0002c0002t0005g0234 a0003c0004t0001g0001 a0003c0004t0001g0047 a0003c0004t0001g0048 a0003c0004t0019g0001 a0004c0006t0001g0310 a0004c0006t0001g0311 a0004c0006t0001g0312 a0004c0006t0001g0313 a0004c0011t0001g0007 a0007c0008t0001g0049	146	380	0.3842	-28	c.255 others(45): Show c.255+6281_255+6308delTAGATAGATAGATAGATAGATAGACAGA	NET1	ENSG00000173848.19	transcript	ENST00000355029.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
NET1_chr10_5407557_5464056	5435514	TAGATAGA others(21): Show TAGATAGATAGATAGATAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp1 HG01891.hp2 others(1): Show HG01106.hp1 HG01361.hp1 HG01891.hp2 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0215 others(1): Show a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0215 a0002c0002t0005g0240	4	380	0.0105	-28	c.255 others(45): Show c.255+6305_255+6332delCAGACAGACAGATAGATAGATAGATAGA	NET1	ENSG00000173848.19	transcript	ENST00000355029.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
NETO1_chr18_72738756_72872987	72772821	CTCTCTAT others(21): Show CTCTCTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03195.hp1 NA18522.hp2 HG00408.hp1 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0131 a0001c0001t0003g0181 a0001c0001t0011g0337 a0001c0001t0003g0131 a0001c0001t0003g0181 a0001c0001t0011g0337	3	348	0.0086	-28	c.868 others(47): Show c.868+10829_868+10856delTATATATATATATATATATATATAGA GA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NETO1_chr18_72738756_72872987	72772823	CTCTATAT others(21): Show CTCTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	348	0.0029	-28	c.868 others(47): Show c.868+10827_868+10854delTATATATATATATATATATATATATA GA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NEURL1B_chr5_172636263_172696540	172649134	CTGTCTGG others(21): Show CTGTCTGGAGCTGGACAGCGGGGAGAACG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0040 a0001c0001t0003 a0001c0001t0040	a0001c0001t0003g0080 a0001c0001t0040g0081 a0001c0001t0003g0080 a0001c0001t0040g0081	2	392	0.0051	-28	c.31+ others(43): Show c.31+7700_31+7727delTCTGGAGCTGGACAGCGGGGAGAACGTG	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEUROD6_chr7_31332465_31345726	31334249	GCTTTCTT others(21): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02970.hp1 HG03579.hp1 HG01255.hp1 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	414	0.0073	-28	c.39 others(39): Show c.3978_*4005delAAAGAAAGAAAGAAAGAAAGAAAGAAAG	NEUROD6	ENSG00000164600.7	transcript	ENST00000297142.4	protein_coding		3215		chr7	TogoVar
NEXMIF_chrX_74727856_74930452	74903325	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	224	0.0045	-28	c.-48 others(47): Show c.-48+21530_-48+21557delGTGTGTGTGTGTGTGTGTGTGTGTGT GT	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
NF2_chr22_29598633_29703598	29624799	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02451.hp1 NA20805.hp1 HG01361.hp2 HG02451.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0033 a0001c0001t0001 a0001c0001t0010 a0001c0001t0033	a0001c0001t0001g0019 a0001c0001t0010g0007 a0001c0001t0033g0152 a0001c0001t0001g0019 a0001c0001t0010g0007 a0001c0001t0033g0152	3	344	0.0087	-28	c.115 others(47): Show c.115-11908_115-11881delTTCTTTCTTTCTTTCTTTCTTTCTTT CT	NF2	ENSG00000186575.19	transcript	ENST00000338641.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
NFAM1_chr22_42375407_42437403	42412756	GCTCGGAG others(21): Show GCTCGGAGAGGATTTGTCAGGTTTTTTAC	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0088 a0001c0001t0019g0088	1	384	0.0026	-28	c.122 others(45): Show c.122-1048_122-1021delGTAAAAAACCTGACAAATCCTCTCCGAG	NFAM1	ENSG00000235568.7	transcript	ENST00000329021.10	protein_coding	1/5			chr22	TogoVar
NFAT5_chr16_69560966_69709654	69561005	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0372 a0001c0001t0029g0372	1	380	0.0026	-28	c.-52 others(39): Show c.-5296_-5269delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding		4960		chr16	TogoVar
NFAT5_chr16_69560966_69709654	69627323	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01433.hp2 others(10): Show HG00099.hp1 HG00735.hp1 HG01433.hp2 HG01934.hp2 HG02165.hp1 HG02280.hp1 HG02523.hp1 HG03225.hp1 HG03688.hp2 NA18944.hp2 NA19000.hp1 NA19043.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 others(10): Show a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0232 a0001c0001t0002g0242 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0297 a0001c0001t0002g0307 a0001c0001t0002g0322 a0001c0001t0002g0323	13	380	0.0342	-28	c.253 others(43): Show c.253+828_253+855delATATATATATATATATATATATATATAT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC2_chr20_51381963_51547719	51396034	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG06807.hp2 NA18964.hp2 others(2): Show HG02015.hp2 HG06807.hp2 NA18964.hp2 NA19063.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0018 a0001c0001t0048 others(2): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0048 a0001c0002t0003 a0001c0004t0003	a0001c0001t0003g0264 a0001c0001t0018g0210 a0001c0001t0048g0219 others(2): Show a0001c0001t0003g0264 a0001c0001t0018g0210 a0001c0001t0048g0219 a0001c0002t0003g0181 a0001c0004t0003g0201	5	316	0.0158	-28	c.44 others(45): Show c.44+2581_*44+2608delTATATATATATATATATATATATACATA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFIA_chr1_61077561_61467788	61200010	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG04115.hp2 HG01256.hp2 HG01258.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0054 a0001c0002t0003 a0001c0001t0054 a0001c0002t0003	a0001c0001t0054g0021 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0001t0054g0021 a0001c0002t0003g0031 a0001c0002t0003g0032	3	156	0.0192	-28	c.560 others(47): Show c.560-77480_560-77453delATATATATATATATATATATATATAT AT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61200040	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	156	0.0064	-28	c.560 others(47): Show c.560-77476_560-77449delATATATATATATATATATATATATGT AT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61334555	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02622.hp1 HG03098.hp1 others(3): Show HG01123.hp2 HG02622.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0010 a0001c0001t0030 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0030 a0001c0002t0001 a0001c0002t0060 a0001c0003t0025	a0001c0001t0003g0024 a0001c0001t0010g0071 a0001c0001t0030g0109 others(3): Show a0001c0001t0003g0024 a0001c0001t0010g0071 a0001c0001t0030g0109 a0001c0002t0001g0139 a0001c0002t0060g0132 a0001c0003t0025g0142	6	156	0.0385	-28	c.700 others(45): Show c.700+1999_700+2026delATATATATATATATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14216515	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG01109.hp2 others(10): Show HG00140.hp1 HG00558.hp1 HG01109.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01928.hp1 NA18945.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18994.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0056 a0001c0001t0080 a0001c0001t0083	a0001c0001t0002g0198 a0001c0001t0002g0243 a0001c0001t0002g0270 others(10): Show a0001c0001t0002g0198 a0001c0001t0002g0243 a0001c0001t0002g0270 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0175 a0001c0001t0004g0229 a0001c0001t0004g0287 a0001c0001t0004g0299 a0001c0001t0010g0068 a0001c0001t0056g0056 a0001c0001t0080g0137 a0001c0001t0083g0276	13	304	0.0428	-28	c.563 others(47): Show c.563-36763_563-36736delGGAGAGAGAGAGAGAGAGAGAGAGAG AG	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216524	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCCCTCTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0221 a0001c0001t0011g0221	1	304	0.0033	-28	c.563 others(47): Show c.563-36772_563-36745delCACACAGAGGGAGAGAGAGAGAGAGA GA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216530	CTCTCTCT others(21): Show CTCTCTCTCTCTCCCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0007 a0001c0001t0029g0069 a0001c0001t0003g0007 a0001c0001t0029g0069	2	304	0.0066	-28	c.563 others(47): Show c.563-36778_563-36751delCACACACACACAGAGGGAGAGAGAGA GA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216532	CTCTCTCT others(21): Show CTCTCTCTCTCCCTCTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01496.hp1 HG01517.hp2 others(3): Show HG00323.hp2 HG01496.hp1 HG01517.hp2 HG02451.hp1 HG03471.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 a0001c0001t0033 a0001c0001t0070 a0001c0001t0108	a0001c0001t0001g0202 a0001c0001t0009g0014 a0001c0001t0024g0092 others(3): Show a0001c0001t0001g0202 a0001c0001t0009g0014 a0001c0001t0024g0092 a0001c0001t0033g0303 a0001c0001t0070g0095 a0001c0001t0108g0248	6	304	0.0197	-28	c.563 others(47): Show c.563-36780_563-36753delCACACACACACACAGAGGGAGAGAGA GA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216534	CTCTCTCT others(21): Show CTCTCTCTCCCTCTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG06807.hp2 HG02615.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0035 a0001c0001t0028 a0001c0001t0035	a0001c0001t0028g0046 a0001c0001t0035g0191 a0001c0001t0028g0046 a0001c0001t0035g0191	2	304	0.0066	-28	c.563 others(47): Show c.563-36782_563-36755delCACACACACACACACAGAGGGAGAGA GA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14237763	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00597.hp2 others(37): Show HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01928.hp1 HG02056.hp1 HG02080.hp1 HG02293.hp1 HG02602.hp2 HG02683.hp1 HG03654.hp2 HG04228.hp2 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18988.hp2 NA18993.hp1 NA19000.hp2 NA19060.hp1 NA19066.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0025 a0001c0001t0032 a0001c0001t0034 a0001c0001t0037 a0001c0001t0051 a0001c0001t0056 a0001c0001t0067 a0001c0001t0084 a0001c0001t0088 a0001c0001t0090 a0001c0001t0092 a0001c0001t0098 a0001c0001t0103 a0001c0001t0111 a0001c0001t0116 a0003c0006t0076	a0001c0001t0001g0169 a0001c0001t0001g0241 a0001c0001t0001g0253 others(37): Show a0001c0001t0001g0169 a0001c0001t0001g0241 a0001c0001t0001g0253 a0001c0001t0002g0223 a0001c0001t0002g0243 a0001c0001t0002g0254 a0001c0001t0002g0288 a0001c0001t0002g0294 a0001c0001t0004g0094 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0118 a0001c0001t0004g0212 a0001c0001t0004g0229 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0291 a0001c0001t0004g0299 a0001c0001t0007g0177 a0001c0001t0010g0068 a0001c0001t0012g0112 a0001c0001t0012g0240 a0001c0001t0012g0242 a0001c0001t0014g0120 a0001c0001t0025g0062 a0001c0001t0032g0237 a0001c0001t0034g0166 a0001c0001t0037g0001 a0001c0001t0051g0057 a0001c0001t0056g0056 a0001c0001t0067g0219 a0001c0001t0084g0111 a0001c0001t0088g0211 a0001c0001t0090g0231 a0001c0001t0092g0192 a0001c0001t0098g0238 a0001c0001t0103g0093 a0001c0001t0111g0258 a0001c0001t0116g0206 a0003c0006t0076g0184	40	304	0.1316	-28	c.563 others(47): Show c.563-58011_563-57984delACACACACACACACACACACACACAC AC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFILZ_chr19_8625633_8686151	8652969	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG01123.hp1 others(9): Show HG00558.hp1 HG00597.hp1 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG02015.hp1 HG02129.hp2 HG03927.hp2 NA18985.hp1 NA19078.hp1 NA19085.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0029 a0001c0001t0137 a0001c0001t0138 a0001c0001t0140 a0003c0003t0011 a0003c0003t0072	a0001c0001t0001g0136 a0001c0001t0005g0160 a0001c0001t0005g0161 others(9): Show a0001c0001t0001g0136 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0012g0068 a0001c0001t0013g0180 a0001c0001t0022g0082 a0001c0001t0029g0150 a0001c0001t0137g0088 a0001c0001t0138g0086 a0001c0001t0140g0085 a0003c0003t0011g0159 a0003c0003t0072g0131	12	366	0.0328	-28	c.-16 others(49): Show c.-164+17241_-164+17268delCCTTCCTTCCTTCCTTCCTTCCTT CCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar

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