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
NFIC_chr19_3361583_3474217	3371998	C C	CCTCCTCT others(20): Show CCTCCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0217 a0001c0001t0217	a0001c0001t0217g0193 a0001c0001t0217g0193	1	300	0.0033	27	c.30+ others(42): Show c.30+5335_30+5336insCTCTCTCTCTCTCTCTCTCTCTCTCTC	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFU1_chr2_69391126_69442435	69424198	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	368	0.0027	27	c.167 others(42): Show c.167-482_167-481insATATATATATATATATATATATATTTT	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	2/7			chr2	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCCCTCCC others(20): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	366	0.0027	27	c.90- others(40): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGGAGGG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCTCCCCC others(20): Show TCTCCCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	366	0.0027	27	c.90- others(40): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGGGGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCTCTCCC others(20): Show TCTCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	366	0.0027	27	c.90- others(40): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGGAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232993152	C C	CAAATATA others(20): Show CAAATATATATATATTATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	362	0.0028	27	c.-74 others(46): Show c.-74-18215_-74-18189dupATTTATATATATAATATATATATATT T	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995146	A A	ACTGTATA others(20): Show ACTGTATATATATGTACAGTATGTATAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0016 a0001c0003t0027g0016	1	362	0.0028	27	c.-75 others(46): Show c.-75+17921_-75+17922insGTATACATACTGTACATATATATACA G	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHSL2_chrX_71905845_72158286	72048987	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19074.hp2 NA19088.hp1 NA19043.hp1 NA19074.hp2 NA19088.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0004 a0004c0005 a0001c0003 a0003c0004 a0004c0005	a0001c0003t0031 a0003c0004t0008 a0004c0005t0082 a0001c0003t0031 a0003c0004t0008 a0004c0005t0082	a0001c0003t0031g0140 a0003c0004t0008g0071 a0004c0005t0082g0062 a0001c0003t0031g0140 a0003c0004t0008g0071 a0004c0005t0082g0062	3	187	0.0160	27	c.281 others(46): Show c.281-83091_281-83065dupAGAAGAAGAAGAAGAAGAAGAAGAAG A	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72049009	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02818.hp2 others(1): Show HG02109.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0033 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0033 a0001c0003t0035	a0001c0001t0001g0053 a0001c0001t0015g0049 a0001c0003t0033g0093 others(1): Show a0001c0001t0001g0053 a0001c0001t0015g0049 a0001c0003t0033g0093 a0001c0003t0035g0133	4	187	0.0214	27	c.281 others(46): Show c.281-83065_281-83064insAGAAGAAGAAGAAGAAGAAGAGGAAG A	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NID1_chr1_235970830_236070090	236003078	G G	GTAGTAGT others(20): Show GTAGTAGTTGTCACTCCTAGTGAACGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02074.hp2 HG02080.hp2 others(3): Show HG00280.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02735.hp2 HG03654.hp1	a0002 a0030 a0002 a0030	a0002c0002 a0002c0017 a0030c0045 a0002c0002 a0002c0017 a0030c0045	a0002c0002t0001 a0002c0017t0011 a0030c0045t0001 a0002c0002t0001 a0002c0017t0011 a0030c0045t0001	a0002c0002t0001g0157 a0002c0002t0001g0170 a0002c0002t0001g0185 others(3): Show a0002c0002t0001g0157 a0002c0002t0001g0170 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0017t0011g0214 a0030c0045t0001g0247	6	334	0.0180	27	c.252 others(46): Show c.2527+8842_2527+8843insGTCGTTCACTAGGAGTGACAACTACT A	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	12/19			chr1	TogoVar
NID1_chr1_235970830_236070090	236003097	G G	GTGAACGA others(20): Show GTGAACGAGTGGTAGTTGTCACTCCTAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0292 a0002c0043t0001g0292	1	334	0.0030	27	c.252 others(46): Show c.2527+8823_2527+8824insATAGGAGTGACAACTACCACTCGTTC A	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	12/19			chr1	TogoVar
NID1_chr1_235970830_236070090	236003124	G G	GTGAACGA others(20): Show GTGAACGAGTGGTAGTTGTCACTCCTAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp1 HG02809.hp2 HG03098.hp1	a0004 a0027 a0004 a0027	a0004c0009 a0027c0060 a0004c0009 a0027c0060	a0004c0009t0002 a0027c0060t0003 a0004c0009t0002 a0027c0060t0003	a0004c0009t0002g0120 a0027c0060t0003g0222 a0004c0009t0002g0120 a0027c0060t0003g0222	2	334	0.0060	27	c.252 others(46): Show c.2527+8796_2527+8797insATAGGAGTGACAACTACCACTCGTTC A	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	12/19			chr1	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	404	0.0025	27	c.33+ others(44): Show c.33+33431_33+33432insATATATTTTTTTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01346.hp2 NA18954.hp1 others(1): Show HG00621.hp1 HG01346.hp2 NA18954.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0232 a0001c0001t0001g0342 a0001c0001t0002g0195 others(1): Show a0001c0001t0001g0232 a0001c0001t0001g0342 a0001c0001t0002g0195 a0001c0001t0002g0353	4	404	0.0099	27	c.33+ others(44): Show c.33+33431_33+33432insATATATATTTTTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18950.hp1 HG01168.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0357 a0001c0001t0001g0109 a0001c0001t0001g0357	2	404	0.0050	27	c.33+ others(44): Show c.33+33431_33+33432insATATATATATTTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02004.hp2 HG02080.hp1 others(4): Show HG00642.hp1 HG02004.hp2 HG02080.hp1 HG02735.hp1 HG03491.hp2 HG03710.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0229 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0367 a0001c0001t0002g0073 a0001c0001t0002g0077	7	404	0.0173	27	c.33+ others(44): Show c.33+33431_33+33432insATATATATATATTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02148.hp2 HG03491.hp1 others(1): Show HG01081.hp2 HG02148.hp2 HG03491.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0001g0238 a0001c0001t0001g0245 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0002g0057	4	404	0.0099	27	c.33+ others(44): Show c.33+33431_33+33432insATATATATATATATTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	404	0.0025	27	c.33+ others(44): Show c.33+33431_33+33432insATATATATATATATATTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19088.hp2 HG02027.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0274 a0001c0001t0001g0013 a0001c0001t0001g0274	2	404	0.0050	27	c.33+ others(44): Show c.33+33431_33+33432insATATATATATATATATATTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	634265	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19087.hp2 HG02056.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0033 a0001c0001t0001g0040	2	404	0.0050	27	c.33+ others(44): Show c.33+29062_33+29063insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NKAIN2_chr6_123798865_124830640	124369880	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	66	0.0152	27	c.273 others(46): Show c.273+14551_273+14552insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124687430	T T	TGTGTATG others(20): Show TGTGTATGTATGGAATATATATATTCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02451.hp2 others(4): Show HG01109.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp2 HG03139.hp2 HG03486.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 a0001c0002t0018	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0002g0044 a0001c0001t0002g0055 a0001c0002t0005g0020 a0001c0002t0018g0007	7	66	0.1061	27	c.474 others(46): Show c.474+29044_474+29045insGTGTATGTATGGAATATATATATTCC A	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62454301	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0008 a0001c0001t0027g0008	1	144	0.0069	27	c.55- others(46): Show c.55-125216_55-125215insAAAAAAAAAAAAAAAAAAAAAAAAAA A	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62729023	C C	CAAACCAA others(20): Show CAAACCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19240.hp2 NA18948.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0090 a0001c0002t0052 a0001c0002t0090	a0001c0002t0052g0055 a0001c0002t0090g0134 a0001c0002t0052g0055 a0001c0002t0090g0134	2	144	0.0139	27	c.274 others(46): Show c.274-17909_274-17908insAAACCAAAAAAAAAAAAAAAAAAAAA A	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	3/6			chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62859508	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0061 a0001c0002t0044g0061	1	144	0.0069	27	c.472 others(46): Show c.472-58932_472-58931insAAAAAAAAAAAAAAAAAAAAAAAAAA A	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTTT others(20): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0066 a0001c0002t0030g0066	1	144	0.0069	27	c.472 others(46): Show c.472-34994_472-34993insGTTTTTTTTTTTTTTTTTTTTTTTTT T	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAP_chrX_119915672_119948751	119934430	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0144 a0001c0001t0020g0144	1	320	0.0031	27	c.737 others(40): Show c.737+63_737+64insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NKAP	ENSG00000101882.10	transcript	ENST00000371410.5	protein_coding	5/8			chrX	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	C C	CCTTCTTC others(20): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18960.hp2 NA18953.hp1 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0020 a0001c0002t0004g0004 a0001c0002t0004g0020	2	434	0.0046	27	c.-18 others(38): Show c.-1884_-1883insAAGAAGAAGAAGAAGAAGAAGAAGAAG	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1726		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708516	T T	TTCTTCTT others(20): Show TTCTTCTTCTTCTTCTTCTTCCTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	2	434	0.0046	27	c.-19 others(38): Show c.-1919_-1918insGGAAGAGGAAGAAGAAGAAGAAGAAGA	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1761		chr8	TogoVar
NLGN1_chr3_173392744_174299372	173539640	A A	ATACATAT others(20): Show ATACATATATAACATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp1 HG02523.hp1 others(3): Show HG01255.hp1 HG02055.hp1 HG02523.hp1 HG02572.hp2 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0033 a0001c0005t0035	a0001c0001t0002g0007 a0001c0001t0003g0026 a0001c0001t0003g0043 others(3): Show a0001c0001t0002g0007 a0001c0001t0003g0026 a0001c0001t0003g0043 a0001c0001t0015g0027 a0001c0001t0033g0044 a0001c0005t0035g0016	6	44	0.1364	27	c.-32 others(48): Show c.-320-64623_-320-64622insATGTATATATGTACATATATAACA TAT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN4X_chrX_5885042_6233867	6010513	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01258.hp1 HG02040.hp1 others(8): Show HG00408.hp1 HG01258.hp1 HG02040.hp1 NA18945.hp1 NA18956.hp2 NA18962.hp1 NA18971.hp1 NA18990.hp1 NA19079.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0048 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0103	11	128	0.0859	27	c.625 others(46): Show c.625+18740_625+18766dupTAATAATAATAATAATAATAATAATA A	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6030392	A A	ATTGTGTG others(20): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18950.hp1 NA18955.hp1 others(2): Show HG02135.hp1 NA18950.hp1 NA18955.hp1 NA18966.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0007 a0002c0007t0001 a0001c0001t0001 a0001c0001t0007 a0002c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0007g0091 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0007g0091 a0001c0001t0007g0092 a0002c0007t0001g0124	5	128	0.0391	27	c.473 others(42): Show c.473-961_473-960insCACACACACACACACACACACACACAA	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLK_chr17_28037677_28201381	28172116	C C	CAGGAATT others(20): Show CAGGAATTTATTTAAATTCCTTTACATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01071.hp2 others(12): Show HG00140.hp1 HG01070.hp2 HG01071.hp2 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG02109.hp1 HG02451.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03834.hp1 NA18522.hp1 NA19062.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0003t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0085 a0001c0001t0002g0099 a0001c0006t0001g0087 a0002c0003t0001g0047	15	108	0.1389	27	c.104 others(44): Show c.1048-279_1048-253dupAATTCCTTTACATGAGGAATTTATTTA	NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NLRC3_chr16_3534033_3582403	3569395	T T	TATATAGA others(20): Show TATATAGATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0025 a0011c0014t0025	a0011c0014t0025g0348 a0011c0014t0025g0349 a0011c0014t0025g0348 a0011c0014t0025g0349	2	396	0.0051	27	c.-16 others(46): Show c.-168-2072_-168-2071insTATATATATATATATATATATCTATA T	NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	1/19			chr16	TogoVar
NLRC3_chr16_3534033_3582403	3569395	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0022 a0006c0010t0022	a0006c0010t0022g0141 a0006c0010t0022g0141	1	396	0.0025	27	c.-16 others(46): Show c.-168-2072_-168-2071insTATATATATATATATATATATATATA T	NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	1/19			chr16	TogoVar
NLRC4_chr2_32219453_32269886	32259262	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	394	0.0025	27	c.-11 others(46): Show c.-118-2396_-118-2370dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CCCCTTTT others(20): Show CCCCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA20752.hp1 NA20805.hp2 HG01070.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322	3	394	0.0076	27	c.-11 others(46): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAGG G	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CCCTTTTT others(20): Show CCCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	394	0.0025	27	c.-11 others(46): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAG G	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(53): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG01071.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 NA18943.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18967.hp1 NA18982.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0002c0006t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0006t0003 a0003c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0222 others(51): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0337 a0001c0001t0001g0352 a0001c0002t0001g0238 a0001c0002t0001g0342 a0001c0002t0001g0343 a0002c0006t0003g0241 a0003c0007t0001g0261	56	394	0.1421	27	c.-11 others(46): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA A	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRP1_chr17_5509118_5589509	5561426	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0366 a0001c0001t0006g0366	1	404	0.0025	27	c.653 others(44): Show c.653-1410_653-1384dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	NLRP1	ENSG00000091592.17	transcript	ENST00000572272.6	protein_coding	3/16			chr17	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0003 a0002c0047t0003	a0002c0047t0003g0380 a0002c0047t0003g0380	1	429	0.0023	27	c.326 others(42): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984485	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00738.hp1 others(13): Show HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG02148.hp2 HG02155.hp2 HG02523.hp2 HG03453.hp1 HG03471.hp2 NA18956.hp2 NA18959.hp1 NA18969.hp1 NA19080.hp1 NA20129.hp1	a0001 a0002 a0029 others(1): Show a0001 a0002 a0029 a0031	a0001c0002 a0001c0010 a0002c0003 others(3): Show a0001c0002 a0001c0010 a0002c0003 a0002c0012 a0029c0046 a0031c0043	a0001c0002t0001 a0001c0010t0008 a0002c0003t0003 others(3): Show a0001c0002t0001 a0001c0010t0008 a0002c0003t0003 a0002c0012t0005 a0029c0046t0003 a0031c0043t0004	a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0408 others(13): Show a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0408 a0001c0010t0008g0385 a0002c0003t0003g0245 a0002c0003t0003g0246 a0002c0003t0003g0248 a0002c0003t0003g0252 a0002c0003t0003g0264 a0002c0003t0003g0265 a0002c0003t0003g0362 a0002c0003t0003g0363 a0002c0003t0003g0400 a0002c0012t0005g0198 a0029c0046t0003g0393 a0031c0043t0004g0160	16	429	0.0373	27	c.203 others(44): Show c.2031-547_2031-546insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55837607	A A	AACACACA others(20): Show AACACACACCACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(49): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG03491.hp1 HG03492.hp2 NA18747.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19012.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0005 a0001c0006 others(10): Show a0001c0001 a0001c0005 a0001c0006 a0001c0011 a0002c0002 a0002c0003 a0002c0009 a0003c0007 a0003c0008 a0004c0004 a0005c0010 a0005c0012 a0008c0027	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(16): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0005t0001 a0001c0006t0002 a0001c0011t0006 a0002c0002t0002 a0002c0002t0006 a0002c0002t0016 a0002c0003t0004 a0002c0003t0006 a0002c0009t0002 a0003c0007t0001 a0003c0007t0002 a0003c0008t0002 a0004c0004t0002 a0005c0010t0002 a0005c0012t0002 a0008c0027t0002	a0001c0001t0002g0260 a0001c0001t0002g0271 a0001c0001t0002g0272 others(48): Show a0001c0001t0002g0260 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0006g0248 a0001c0001t0010g0366 a0001c0005t0001g0261 a0001c0006t0002g0266 a0001c0011t0006g0294 a0002c0002t0002g0243 a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0262 a0002c0002t0002g0274 a0002c0002t0006g0254 a0002c0002t0006g0255 a0002c0002t0006g0256 a0002c0002t0006g0257 a0002c0002t0006g0258 a0002c0002t0006g0259 a0002c0002t0006g0263 a0002c0002t0006g0288 a0002c0002t0006g0290 a0002c0002t0006g0291 a0002c0002t0016g0293 a0002c0003t0004g0178 a0002c0003t0004g0179 a0002c0003t0006g0265 a0002c0009t0002g0276 a0003c0007t0001g0177 a0003c0007t0002g0006 a0003c0007t0002g0270 a0003c0008t0002g0253 a0003c0008t0002g0286 a0004c0004t0002g0252 a0004c0004t0002g0285 a0004c0004t0002g0287 a0004c0004t0002g0289 a0005c0010t0002g0244 a0005c0010t0002g0245 a0005c0010t0002g0247 a0005c0010t0002g0267 a0005c0010t0002g0268 a0005c0010t0002g0269 a0005c0010t0002g0292 a0005c0012t0002g0264 a0005c0012t0002g0275 a0005c0012t0002g0277 a0008c0027t0002g0251 a0008c0027t0002g0278	52	424	0.1226	27	c.-66 others(42): Show c.-66+681_-66+682insCACACACACACACACACACACACACAC	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56010740	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0003 a0004c0020t0003	a0004c0020t0003g0098 a0004c0020t0003g0098	1	396	0.0025	27	c.508 others(44): Show c.508+1887_508+1888insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14			chr19	TogoVar
NLRP5_chr19_55994726_56066810	56010742	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02083.hp2 HG02155.hp2 HG01175.hp1 HG02083.hp2 HG02155.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0012 a0001c0002 a0002c0012	a0001c0002t0001 a0002c0012t0002 a0001c0002t0001 a0002c0012t0002	a0001c0002t0001g0148 a0001c0002t0001g0151 a0002c0012t0002g0031 a0001c0002t0001g0148 a0001c0002t0001g0151 a0002c0012t0002g0031	3	396	0.0076	27	c.508 others(44): Show c.508+1902_508+1903insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56010742	C C	CCAAAAAA others(20): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03453.hp1 HG01109.hp1 HG03453.hp1	a0003 a0007 a0003 a0007	a0003c0076 a0007c0021 a0003c0076 a0007c0021	a0003c0076t0002 a0007c0021t0001 a0003c0076t0002 a0007c0021t0001	a0003c0076t0002g0250 a0007c0021t0001g0348 a0003c0076t0002g0250 a0007c0021t0001g0348	2	396	0.0051	27	c.508 others(44): Show c.508+1889_508+1890insCAAAAAAAAAAAAAAAAAAAAAAAAAA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14			chr19	TogoVar
NLRP5_chr19_55994726_56066810	56013596	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0245 a0003c0008t0001g0245	1	396	0.0025	27	c.509 others(44): Show c.509-2125_509-2124insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55945573	C C	CTTTTCTT others(20): Show CTTTTCTTTTCTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0000 a0000	a0000c0016 a0000c0016	a0000c0016t0061 a0000c0016t0061	a0000c0016t0061g0182 a0000c0016t0061g0182	1	350	0.0029	27	c.-23 others(38): Show c.-2330_-2329insTTTTCTTTTCTTTTTTTTTTTTTTTTT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		2258		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCTCCC others(20): Show CCCCTCCCCCCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0071 a0000c0008t0071	a0000c0008t0071g0150 a0000c0008t0071g0150	1	350	0.0029	27	c.55 others(38): Show c.5595_*5596insCCCTCCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993509	C C	CCCCCCTC others(20): Show CCCCCCTCCCCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0011 a0000c0008t0011	a0000c0008t0011g0074 a0000c0008t0011g0074	1	350	0.0029	27	c.55 others(38): Show c.5596_*5597insCCCCCTCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4881		chr19	TogoVar

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Search Results (Total: 7463 hits)