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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NCS1_chr9_130167404_130242303	130176168	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG03209.hp2 HG02615.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0068 a0001c0002t0055 a0001c0002t0128 a0001c0001t0068 a0001c0002t0055 a0001c0002t0128	a0001c0001t0068g0295 a0001c0002t0055g0293 a0001c0002t0128g0294 a0001c0001t0068g0295 a0001c0002t0055g0293 a0001c0002t0128g0294	3	348	0.0086	-26	c.64+ others(41): Show c.64+3443_64+3468delCTTTCTTTCTTTCTTTCTTTCTTTCT		NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130221397	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02897.hp1 HG02258.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0184 a0001c0002t0057 a0001c0002t0184	a0001c0002t0057g0159 a0001c0002t0184g0334 a0001c0002t0057g0159 a0001c0002t0184g0334	2	348	0.0058	-26	c.308 others(43): Show c.308-1251_308-1226delTATATATATATATATAGAGAGAGAGA		NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130221399	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp1 HG03209.hp2 HG02109.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0166 a0001c0002t0128 a0001c0002t0149 a0001c0001t0166 a0001c0002t0128 a0001c0002t0149	a0001c0001t0166g0329 a0001c0002t0128g0294 a0001c0002t0149g0207 a0001c0001t0166g0329 a0001c0002t0128g0294 a0001c0002t0149g0207	3	348	0.0086	-26	c.308 others(43): Show c.308-1249_308-1224delTATATATATATATAGAGAGAGAGAGA		NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NDNF_chr4_121030613_121077535	121039184	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0107 a0001c0005t0004g0107	1	354	0.0028	-26	c.313 others(41): Show c.313+720_313+745delTATATATATATATATATACACACACA		NDNF	ENSG00000173376.14	transcript	ENST00000379692.9	protein_coding	3/3						chr4	TogoVar
NDRG3_chr20_36646771_36751090	36733165	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp1 HG03540.hp2 others(1): Show HG00099.hp1 HG01243.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0064 a0001c0001t0007g0068 a0001c0001t0009g0090 others(1): Show a0001c0001t0007g0064 a0001c0001t0007g0068 a0001c0001t0009g0090 a0001c0001t0009g0091	4	298	0.0134	-26	c.-48 others(45): Show c.-48-11408_-48-11383delATATATATATATATATATATTTTTTT		NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	1/15						chr20	TogoVar
NDST3_chr4_118029486_118263634	118040845	TTATATAT others(19): Show TTATATATATATTTATATATTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	216	0.0046	-26	c.-15 others(45): Show c.-156+6273_-156+6298delTTTTATATATATATATATTTATATAT		NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST4_chr4_114822763_115118620	115057709	CACACACA others(19): Show CACACACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	190	0.0053	-26	c.978 others(45): Show c.978+18324_978+18349delCTGTGTGTGTGTGTGTGTGTGTGTGT		NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13						chr4	TogoVar
NDUFA10_chr2_239952372_240030342	240013286	AAATGGGG others(19): Show AAATGGGGTAATTTTACCTGATGACAG	A A	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0041 a0001c0003t0041	a0001c0003t0041g0114 a0001c0003t0041g0114	1	412	0.0024	-26	c.669 others(43): Show c.669+1427_669+1452delCTGTCATCAGGTAAAATTACCCCATT		NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	5/9						chr2	TogoVar
NDUFAF2_chr5_60940205_61158026	61056909	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0257 a0001c0003t0001g0257	1	266	0.0038	-26	c.128 others(45): Show c.128-16214_128-16189delAAAAAAAAAATATATATATATATATA		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFB10_chr16_1954538_1966975	1959442	GCGGGTCC others(19): Show GCGGGTCCCGGCCGCGCCCGGCGGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	446	0.0022	-26	c.-18 others(35): Show c.-182_-157delCGGGTCCCGGCCGCGCCCGGCGGAGC		NDUFB10	ENSG00000140990.15	transcript	ENST00000268668.11	protein_coding					95		chr16	TogoVar
NDUFB3_chr2_201067001_201090750	201069543	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02145.hp2 HG03491.hp2 others(2): Show HG01261.hp2 HG02145.hp2 HG03491.hp2 HG03942.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0148 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151	5	332	0.0151	-26	c.-25 others(37): Show c.-2518_-2493delACACACACACACACACACACACACAC		NDUFB3	ENSG00000119013.10	transcript	ENST00000237889.9	protein_coding					2457		chr2	TogoVar
NDUFB7_chr19_14561078_14577066	14566649	AGGGGGGC others(19): Show AGGGGGGCTTGGGCGGGCTGGGCATGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02280.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0063 a0001c0001t0001g0085	2	402	0.0050	-26	c.281 others(40): Show c.281+90_281+115delACATGCCCAGCCCGCCCAAGCCCCCC		NDUFB7	ENSG00000099795.7	transcript	ENST00000215565.3	protein_coding	2/2						chr19	TogoVar
NDUFB7_chr19_14561078_14577066	14566662	CGGGCTGG others(19): Show CGGGCTGGGCATGTGGGGGGCTTGGGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp2 HG03195.hp1 others(1): Show HG02486.hp2 HG03041.hp2 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0001g0084 a0001c0001t0002g0075 a0001c0001t0001g0035 a0001c0001t0001g0084 a0001c0001t0002g0075	4	402	0.0100	-26	c.281 others(40): Show c.281+77_281+102delACCCAAGCCCCCCACATGCCCAGCCC		NDUFB7	ENSG00000099795.7	transcript	ENST00000215565.3	protein_coding	2/2						chr19	TogoVar
NDUFB8_chr10_100518740_100534871	100525615	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 NA19030.hp1 HG02145.hp1 HG02647.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0140 a0001c0001t0001g0055 a0001c0001t0001g0140	3	362	0.0083	-26	c.468 others(41): Show c.468+758_468+783delACACACACACACACACACACACACAC		NDUFB8	ENSG00000166136.16	transcript	ENST00000299166.9	protein_coding	4/4						chr10	TogoVar
NDUFS3_chr11_47574074_47589562	47579984	GACACACA others(19): Show GACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	422	0.0024	-26	c.134 others(41): Show c.134-520_134-495delACACACACACACACACACACACACAC		NDUFS3	ENSG00000213619.11	transcript	ENST00000263774.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
NDUFS5_chr1_39021350_39039615	39024902	TTATATAT others(19): Show TTATATATATATATATTTATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03579.hp1 NA18522.hp1 others(1): Show HG02486.hp1 HG03579.hp1 NA18522.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0086 a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0086	4	438	0.0091	-26	c.-15 others(37): Show c.-1502_-1477delTATATATATATATATTTATATATATA		NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding					1447		chr1	TogoVar
NEB_chr2_151480339_151739476	151576506	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	188	0.0053	-26	c.167 others(45): Show c.16705-178_16705-153delAAAAAAAAAAAAAAAATATATATATA		NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	105/181						chr2	TogoVar
NEB_chr2_151480339_151739476	151576508	ATATATAT others(19): Show ATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0116 a0116	a0116c0052 a0116c0052	a0116c0052t0001 a0116c0052t0001	a0116c0052t0001g0069 a0116c0052t0001g0069	1	188	0.0053	-26	c.167 others(45): Show c.16705-180_16705-155delAAAAAAAAAAAAAAAAAATATATATA		NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	105/181						chr2	TogoVar
NECAB1_chr8_90786775_90964393	90956943	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG01070.hp1 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0220 a0001c0001t0024g0221 a0001c0001t0024g0220 a0001c0001t0024g0221	2	248	0.0081	-26	c.14 others(37): Show c.1448_*1473delGTGTGTGTGTGTGTGTGTGTGTGTGT		NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	13/13				1448	INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD1_chr12_96902257_96958780	96930187	ACACACAC others(19): Show ACACACACACACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp1 NA19240.hp2 HG02109.hp2 HG03130.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0377 a0001c0001t0001g0381 a0001c0001t0001g0382	3	400	0.0075	-26	c.490 others(43): Show c.490-4787_490-4762delACACACACACACACACACACACACTC		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930189	ACACACAC others(19): Show ACACACACACACACACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01928.hp1 HG03471.hp1 others(1): Show HG01106.hp1 HG01928.hp1 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0388 a0001c0001t0006g0330 a0001c0001t0006g0331 others(1): Show a0001c0001t0001g0388 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0333	4	400	0.0100	-26	c.490 others(43): Show c.490-4785_490-4760delACACACACACACACACACACACTCTC		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930191	ACACACAC others(19): Show ACACACACACACACACACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp1 HG03195.hp2 others(1): Show HG02280.hp1 HG03098.hp1 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 others(1): Show a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0019	4	400	0.0100	-26	c.490 others(43): Show c.490-4783_490-4758delACACACACACACACACACACTCTCTC		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4_chr15_55821922_55998612	55839991	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	344	0.0029	-26	c.203 others(43): Show c.2031+430_2031+455delATATATATATATATATATTTTTTTTT		NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28						chr15	TogoVar
NEK11_chr3_131021877_131355465	131203767	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03654.hp2 NA19030.hp2 HG02970.hp1 HG03654.hp2 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0017 a0003c0003t0001g0083 a0003c0003t0001g0084 a0002c0002t0001g0017 a0003c0003t0001g0083 a0003c0003t0001g0084	3	292	0.0103	-26	c.140 others(47): Show c.1400-24726_1400-24701delTATATATATATATATATATATATA TA		NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
NELL1_chr11_20664586_21580686	20813006	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0019 a0001c0004t0001g0019	1	88	0.0114	-26	c.335 others(45): Show c.335+29192_335+29217delAAAAAAAAAAAAAAAAAAAAAAAAAA		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44775227	GCACACAC others(19): Show GCACACACACATGCATGTGCGTGCGCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 NA18906.hp2 HG03195.hp1 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0053 a0001c0001t0001g0115 a0001c0001t0002g0150 a0001c0001t0001g0053 a0001c0001t0001g0115 a0001c0001t0002g0150	3	158	0.0190	-26	c.892 others(41): Show c.892-404_892-379delTGCGCACGCACATGCATGTGTGTGTG		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	8/19						chr12	TogoVar
NELL2_chr12_44503278_44881315	44791183	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	158	0.0063	-26	c.336 others(45): Show c.336-11187_336-11162delATATATATATATATATATATATATAT		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19						chr12	TogoVar
NETO1_chr18_72738756_72872987	72772817	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03139.hp2 HG03195.hp2 others(5): Show HG01106.hp1 HG03139.hp2 HG03195.hp2 HG03491.hp2 NA18977.hp2 NA18982.hp1 NA19009.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0002g0242 others(5): Show a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0002g0242 a0001c0001t0003g0029 a0001c0001t0003g0118 a0001c0001t0003g0296 a0001c0001t0008g0327 a0001c0001t0008g0330	8	348	0.0230	-26	c.868 others(45): Show c.868+10835_868+10860delTATATATATATATATATAGAGAGAGA		NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10						chr18	TogoVar
NETO1_chr18_72738756_72872987	72772819	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG01256.hp2 others(9): Show HG00438.hp2 HG01109.hp2 HG01256.hp2 HG01258.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 NA18968.hp1 NA19066.hp1 NA19079.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0057 a0001c0001t0002g0129 a0001c0001t0002g0240 others(8): Show a0001c0001t0002g0057 a0001c0001t0002g0129 a0001c0001t0002g0240 a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0223 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0309 a0001c0001t0005g0313	12	348	0.0345	-26	c.868 others(45): Show c.868+10833_868+10858delTATATATATATATATATATAGAGAGA		NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10						chr18	TogoVar
NETO1_chr18_72738756_72872987	72772821	CTCTCTAT others(19): Show CTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(18): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG01123.hp1 HG01167.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp2 HG03139.hp1 NA18966.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0019 a0001c0001t0042	a0001c0001t0002g0093 a0001c0001t0002g0133 a0001c0001t0002g0307 others(17): Show a0001c0001t0002g0093 a0001c0001t0002g0133 a0001c0001t0002g0307 a0001c0001t0003g0079 a0001c0001t0003g0097 a0001c0001t0003g0105 a0001c0001t0003g0220 a0001c0001t0003g0262 a0001c0001t0003g0275 a0001c0001t0003g0303 a0001c0001t0005g0001 a0001c0001t0005g0214 a0001c0001t0005g0297 a0001c0001t0008g0321 a0001c0001t0008g0331 a0001c0001t0008g0334 a0001c0001t0017g0040 a0001c0001t0017g0041 a0001c0001t0019g0068 a0001c0001t0042g0264	21	348	0.0603	-26	c.868 others(45): Show c.868+10831_868+10856delTATATATATATATATATATATAGAGA		NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10						chr18	TogoVar
NETO1_chr18_72738756_72872987	72772823	CTCTATAT others(19): Show CTCTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp2 HG01346.hp1 others(12): Show HG00140.hp2 HG01192.hp2 HG01346.hp1 HG01934.hp2 HG02258.hp2 HG02622.hp1 HG02818.hp1 NA18939.hp2 NA18984.hp1 NA19030.hp1 NA19064.hp2 NA19070.hp2 NA19081.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0040	a0001c0001t0001g0314 a0001c0001t0002g0149 a0001c0001t0002g0241 others(12): Show a0001c0001t0001g0314 a0001c0001t0002g0149 a0001c0001t0002g0241 a0001c0001t0003g0008 a0001c0001t0003g0023 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0148 a0001c0001t0003g0162 a0001c0001t0003g0279 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0011g0341 a0001c0001t0040g0083	15	348	0.0431	-26	c.868 others(45): Show c.868+10829_868+10854delTATATATATATATATATATATATAGA		NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10						chr18	TogoVar
NETO1_chr18_72738756_72872987	72772825	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00735.hp1 others(18): Show HG00140.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01978.hp1 HG02071.hp2 HG02300.hp1 HG03239.hp2 HG03453.hp2 HG03540.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0030	a0001c0001t0003g0010 a0001c0001t0003g0120 a0001c0001t0003g0126 others(18): Show a0001c0001t0003g0010 a0001c0001t0003g0120 a0001c0001t0003g0126 a0001c0001t0003g0227 a0001c0001t0003g0272 a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0012 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0024 a0001c0001t0005g0071 a0001c0001t0005g0076 a0001c0001t0005g0167 a0001c0001t0005g0172 a0001c0001t0005g0174 a0001c0001t0008g0323 a0001c0001t0008g0335 a0001c0001t0011g0340 a0001c0001t0030g0290	21	348	0.0603	-26	c.868 others(45): Show c.868+10827_868+10852delTATATATATATATATATATATATATA		NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10						chr18	TogoVar
NEUROD6_chr7_31332465_31345726	31334280	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18522.hp2 HG02257.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	414	0.0048	-26	c.39 others(37): Show c.3949_*3974delGAGAGAAAGAAAGAAAGAAAGAAAGA		NEUROD6	ENSG00000164600.7	transcript	ENST00000297142.4	protein_coding					3184		chr7	TogoVar
NEXMIF_chrX_74727856_74930452	74796266	ATATATAT others(19): Show ATATATATACATATATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	224	0.0045	-26	c.-47 others(45): Show c.-47-50595_-47-50570delATATATATAATATATATGTATATATA		NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3						chrX	TogoVar
NFASC_chr1_204823652_205027822	204837773	GATTCTGC others(19): Show GATTCTGCCTAGGACTAGGCAGCATGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01123.hp2 others(26): Show HG00558.hp1 HG00673.hp2 HG01123.hp2 HG01243.hp2 HG01358.hp1 HG01952.hp1 HG02129.hp2 HG02132.hp1 NA18612.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18970.hp1 NA18975.hp2 NA18986.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19060.hp2 NA19065.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0012	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0030 a0002c0003 a0002c0006 a0002c0008 a0002c0013 a0005c0046 a0007c0045 a0012c0044	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(17): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0033 a0001c0001t0043 a0001c0001t0051 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0047 a0001c0030t0001 a0002c0003t0001 a0002c0003t0046 a0002c0006t0001 a0002c0006t0002 a0002c0008t0012 a0002c0013t0001 a0005c0046t0001 a0007c0045t0013 a0012c0044t0013	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0039 others(26): Show a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0006g0003 a0001c0001t0009g0029 a0001c0001t0033g0038 a0001c0001t0043g0028 a0001c0001t0051g0036 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0004t0001g0013 a0001c0004t0002g0032 a0001c0004t0047g0031 a0001c0030t0001g0030 a0002c0003t0001g0011 a0002c0003t0001g0024 a0002c0003t0001g0033 a0002c0003t0046g0016 a0002c0006t0001g0017 a0002c0006t0001g0037 a0002c0006t0002g0021 a0002c0006t0002g0035 a0002c0008t0012g0026 a0002c0013t0001g0022 a0005c0046t0001g0034 a0007c0045t0013g0015 a0012c0044t0013g0010	29	226	0.1283	-26	c.-20 others(45): Show c.-200+8992_-200+9017delATTCTGCCTAGGACTAGGCAGCATGT		NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29						chr1	TogoVar
NFAT5_chr16_69560966_69709654	69627323	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02258.hp1 HG02970.hp1 others(6): Show HG00280.hp2 HG02258.hp1 HG02970.hp1 HG03195.hp1 HG03516.hp2 HG04204.hp1 NA18906.hp2 NA18956.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0002t0008	a0001c0001t0002g0134 a0001c0001t0002g0281 a0001c0001t0002g0326 others(6): Show a0001c0001t0002g0134 a0001c0001t0002g0281 a0001c0001t0002g0326 a0001c0001t0002g0361 a0001c0001t0006g0094 a0001c0001t0007g0064 a0001c0001t0015g0128 a0001c0001t0015g0319 a0001c0002t0008g0164	9	380	0.0237	-26	c.253 others(41): Show c.253+830_253+855delATATATATATATATATATATATATAT		NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC2_chr20_51381963_51547719	51396038	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0037 a0001c0001t0012g0037	1	316	0.0032	-26	c.44 others(43): Show c.44+2579_*44+2604delTATATATATATATATATATATATATA		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10						chr20	TogoVar
NFIA_chr1_61077561_61467788	61284253	TGAATTTT others(19): Show TGAATTTTCAGCAATGCAATGGAGCTA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	156	0.0064	-26	c.625 others(43): Show c.625+6670_625+6695delAATTTTCAGCAATGCAATGGAGCTAG		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61334555	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01256.hp2 others(13): Show HG00099.hp1 HG01167.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01943.hp1 HG02451.hp2 HG02895.hp1 HG03831.hp2 HG04204.hp2 NA18522.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19030.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0057 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001	a0001c0001t0001g0046 a0001c0001t0003g0066 a0001c0001t0014g0128 others(13): Show a0001c0001t0001g0046 a0001c0001t0003g0066 a0001c0001t0014g0128 a0001c0001t0022g0045 a0001c0001t0023g0143 a0001c0001t0026g0002 a0001c0001t0057g0093 a0001c0001t0061g0001 a0001c0002t0001g0073 a0001c0002t0001g0089 a0001c0002t0002g0036 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0007g0037 a0001c0002t0007g0075 a0001c0003t0001g0097	16	156	0.1026	-26	c.700 others(43): Show c.700+2001_700+2026delATATATATATATATATATATATATAT		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14080447	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01981.hp2 HG02109.hp1 others(3): Show HG01099.hp2 HG01981.hp2 HG02109.hp1 HG02572.hp1 HG02970.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0017 a0001c0001t0006 a0001c0001t0008 a0001c0001t0017	a0001c0001t0006g0071 a0001c0001t0008g0143 a0001c0001t0017g0009 others(3): Show a0001c0001t0006g0071 a0001c0001t0008g0143 a0001c0001t0017g0009 a0001c0001t0017g0024 a0001c0001t0017g0025 a0001c0001t0017g0073	6	304	0.0197	-26	c.78 others(37): Show c.7836_*7861delAAAAAAAAAAAAAAAAAAAAAAAAAA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding					1400		chr9	TogoVar
NFIB_chr9_14076848_14319141	14216517	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18981.hp2 NA19054.hp1 HG03654.hp1 NA18981.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0099 a0001c0001t0004 a0001c0001t0007 a0001c0001t0099	a0001c0001t0004g0212 a0001c0001t0007g0151 a0001c0001t0099g0128 a0001c0001t0004g0212 a0001c0001t0007g0151 a0001c0001t0099g0128	3	304	0.0099	-26	c.563 others(45): Show c.563-36763_563-36738delGGAGAGAGAGAGAGAGAGAGAGAGAG		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14216524	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCCCTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0089 a0004c0004t0089	a0004c0004t0089g0296 a0004c0004t0089g0296	1	304	0.0033	-26	c.563 others(45): Show c.563-36770_563-36745delCACAGAGGGAGAGAGAGAGAGAGAGA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14216528	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCCCTCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0037 a0001c0001t0040g0037	1	304	0.0033	-26	c.563 others(45): Show c.563-36774_563-36749delCACACACAGAGGGAGAGAGAGAGAGA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14216530	CTCTCTCT others(19): Show CTCTCTCTCTCTCCCTCTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02145.hp1 others(15): Show HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(6): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0022 a0001c0001t0030 a0001c0001t0055 a0001c0001t0058	a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0066 others(15): Show a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0066 a0001c0001t0003g0082 a0001c0001t0003g0087 a0001c0001t0008g0141 a0001c0001t0008g0159 a0001c0001t0009g0005 a0001c0001t0009g0070 a0001c0001t0009g0074 a0001c0001t0011g0154 a0001c0001t0011g0160 a0001c0001t0019g0045 a0001c0001t0022g0081 a0001c0001t0030g0217 a0001c0001t0030g0300 a0001c0001t0055g0023 a0001c0001t0058g0002	18	304	0.0592	-26	c.563 others(45): Show c.563-36776_563-36751delCACACACACAGAGGGAGAGAGAGAGA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14216532	CTCTCTCT others(19): Show CTCTCTCTCTCCCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0039 a0001c0001t0022g0083 a0001c0001t0006g0039 a0001c0001t0022g0083	2	304	0.0066	-26	c.563 others(45): Show c.563-36778_563-36753delCACACACACACAGAGGGAGAGAGAGA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14216534	CTCTCTCT others(19): Show CTCTCTCTCCCTCTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02818.hp1 HG02886.hp1 others(3): Show HG02602.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0020 a0001c0001t0045 others(2): Show a0001c0001t0018 a0001c0001t0020 a0001c0001t0045 a0001c0001t0053 a0001c0001t0085	a0001c0001t0018g0190 a0001c0001t0020g0028 a0001c0001t0020g0030 others(3): Show a0001c0001t0018g0190 a0001c0001t0020g0028 a0001c0001t0020g0030 a0001c0001t0045g0091 a0001c0001t0053g0011 a0001c0001t0085g0140	6	304	0.0197	-26	c.563 others(45): Show c.563-36780_563-36755delCACACACACACACAGAGGGAGAGAGA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14237763	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	304	0.0033	-26	c.563 others(45): Show c.563-58009_563-57984delACACACACACACACACACACACACAC		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFKBIL1_chr6_31542608_31563829	31558520	GCCAGATT others(19): Show GCCAGATTGAGACCTGGGAGCTGGGCC	G G	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0001 a0000c0006t0001	a0000c0006t0001g0021 a0000c0006t0001g0021	1	449	0.0022	-26	c.105 others(35): Show c.1056_1081delCCAGATTGAGACCTGGGAGCTGGGCC	p.Ser others(5): Show p.Ser352fs	NFKBIL1	ENSG00000204498.11	transcript	ENST00000376148.9	protein_coding	4/4	1143/1451	1056/1146	352/381			chr6	TogoVar
NFU1_chr2_69391126_69442435	69423236	CTGTGTGA others(19): Show CTGTGTGAGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0141 a0003c0004t0001g0141	1	368	0.0027	-26	c.302 others(41): Show c.302+320_302+345delCACACACACACACACACACTCACACA		NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	3/7						chr2	TogoVar
NGF_chr1_115280917_115343249	115321576	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02970.hp1 HG02300.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0121 a0001c0001t0001g0015 a0001c0001t0001g0121	2	418	0.0048	-26	c.-13 others(47): Show c.-137+16602_-137+16627delCACACACACACACACACACACACA CA		NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2						chr1	TogoVar

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