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
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	319	0.0031	35	c.-16 others(46): Show c.-1628_-1627insCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02258.hp2 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0099 a0002c0003t0002g0108 a0001c0001t0003g0099 a0002c0003t0002g0108	2	319	0.0063	35	c.-16 others(46): Show c.-1628_-1627insCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807653	C C	CTCCCCCC others(28): Show CTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0120 a0001c0005t0001g0120	1	319	0.0031	35	c.-16 others(46): Show c.-1625_-1624insTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACC T	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1539		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807768	C C	CTCTCCCT others(28): Show CTCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	35	c.-15 others(46): Show c.-1510_-1509insTCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG G	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1424		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807822	C C	CAGCCCAG others(28): Show CAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	319	0.0031	35	c.-14 others(46): Show c.-1456_-1455insAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCT T	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1370		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807888	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAACCCAGGGACCTCGGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0025 a0001c0006t0001g0025	1	319	0.0031	35	c.-13 others(46): Show c.-1390_-1389insCCCTCCCCCCTCAACCCAGGGACCTCGGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1304		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807931	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG02647.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0058 a0001c0004t0001g0022 a0001c0001t0003g0058 a0001c0004t0001g0022	2	319	0.0063	35	c.-13 others(46): Show c.-1347_-1346insCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1261		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807931	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG04184.hp2 NA20300.hp2 HG02071.hp1 HG04184.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0002 a0001c0001t0001 a0001c0001t0003 a0002c0003t0002	a0001c0001t0001g0127 a0001c0001t0003g0189 a0002c0003t0002g0129 a0001c0001t0001g0127 a0001c0001t0003g0189 a0002c0003t0002g0129	3	319	0.0094	35	c.-13 others(46): Show c.-1347_-1346insCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1261		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807931	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0029 a0002c0003t0002g0029	1	319	0.0031	35	c.-13 others(46): Show c.-1347_-1346insCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1261		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807932	C C	CCCTCCCT others(28): Show CCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0001 a0009c0010t0001g0001	1	319	0.0031	35	c.-13 others(46): Show c.-1346_-1345insCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAG G	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1260		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807933	C C	CCTCCCCC others(28): Show CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0176 a0002c0003t0002g0176	1	319	0.0031	35	c.-13 others(46): Show c.-1345_-1344insCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC T	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1259		chr2	TogoVar
NEURL1B_chr5_172636263_172696540	172667275	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	392	0.0026	35	c.32- others(50): Show c.32-2489_32-2488insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0357 a0001c0001t0061g0357	1	380	0.0026	35	c.177 others(54): Show c.1775-2714_1775-2713insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79425195	C C	CTGTCTGT others(28): Show CTGTCTGTCTCTGTGTCTGTCTGTCTCTGTCTCTCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0051 a0001c0021t0004g0051	1	322	0.0031	35	c.122 others(54): Show c.1227-8381_1227-8380insCTGTCTCTGTGTCTGTCTGTCTCTGT CTCTCTTGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8656359	A A	AAGCCCAC others(28): Show AAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02683.hp2 HG03831.hp1 others(2): Show HG01175.hp1 HG02683.hp2 HG03831.hp1 HG03831.hp2 NA18966.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0015 a0001c0001t0061 a0001c0001t0152 others(2): Show a0001c0001t0015 a0001c0001t0061 a0001c0001t0152 a0002c0002t0101 a0003c0003t0034	a0001c0001t0015g0267 a0001c0001t0061g0258 a0001c0001t0152g0288 others(2): Show a0001c0001t0015g0267 a0001c0001t0061g0258 a0001c0001t0152g0288 a0002c0002t0101g0212 a0003c0003t0034g0276	5	366	0.0137	35	c.-16 others(56): Show c.-163-18183_-163-18182insCTTCCCTGAAGCCCACCTTCTCCT GCAGCCCACCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656372	C C	CCCTGAAG others(28): Show CCCTGAAGCCCACCTCCTCCCTGAAGCCCCCTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(36): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02486.hp1 HG02717.hp1 HG02896.hp1 HG03704.hp1 HG03927.hp2 NA18950.hp1 NA18952.hp2 NA18963.hp2 NA18975.hp2 NA18985.hp1 NA18995.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(25): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0043 a0001c0001t0045 a0001c0001t0137 a0001c0001t0138 a0001c0001t0140 a0001c0001t0151 a0001c0001t0160 a0002c0002t0002 a0002c0002t0024 a0002c0002t0025 a0002c0002t0036 a0002c0002t0039 a0002c0002t0119 a0002c0002t0122 a0002c0002t0167 a0003c0003t0010 a0003c0003t0011 a0003c0003t0065 a0003c0003t0074 a0003c0003t0077 a0010c0009t0129	a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0076 others(36): Show a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0136 a0001c0001t0005g0158 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0012g0068 a0001c0001t0012g0073 a0001c0001t0013g0180 a0001c0001t0020g0074 a0001c0001t0022g0082 a0001c0001t0022g0133 a0001c0001t0022g0137 a0001c0001t0029g0150 a0001c0001t0043g0132 a0001c0001t0043g0359 a0001c0001t0045g0081 a0001c0001t0137g0088 a0001c0001t0138g0086 a0001c0001t0140g0085 a0001c0001t0151g0077 a0001c0001t0160g0153 a0002c0002t0002g0093 a0002c0002t0024g0138 a0002c0002t0025g0151 a0002c0002t0025g0202 a0002c0002t0036g0079 a0002c0002t0039g0206 a0002c0002t0119g0205 a0002c0002t0122g0335 a0002c0002t0167g0162 a0003c0003t0010g0089 a0003c0003t0010g0203 a0003c0003t0011g0159 a0003c0003t0065g0142 a0003c0003t0074g0071 a0003c0003t0077g0207 a0010c0009t0129g0366	39	366	0.1066	35	c.-16 others(56): Show c.-163-18165_-163-18164insCCTCCCTGAAGCCCCCTTCTTCCT GAAGCCCACCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656390	C C	CCCGCAGC others(28): Show CCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0125 a0009c0008t0125	a0009c0008t0125g0256 a0009c0008t0125g0256	1	366	0.0027	35	c.-16 others(56): Show c.-163-18143_-163-18109dupTCTGAAACCCACCTCTTTCCGCAG CCCACCTTCTC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656463	T T	TGAAACCC others(28): Show TGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0080 a0005c0005t0080	a0005c0005t0080g0001 a0005c0005t0080g0001	1	366	0.0027	35	c.-16 others(56): Show c.-163-18085_-163-18084insACCCACCTCTTTCCGCAGCCCACC TTCTCCTCGAA	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656478	C C	CCCGCAGC others(28): Show CCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp2 NA18952.hp1 HG00735.hp2 HG01168.hp2 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0131 a0002c0002t0002 a0002c0002t0025 a0001c0001t0131 a0002c0002t0002 a0002c0002t0025	a0001c0001t0131g0351 a0002c0002t0002g0215 a0002c0002t0025g0134 a0001c0001t0131g0351 a0002c0002t0002g0215 a0002c0002t0025g0134	3	366	0.0082	35	c.-16 others(56): Show c.-163-18056_-163-18055insTCTGAAACCCACCTCTTTCCGCAG CCCACCTTCTC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKBIA_chr14_35396513_35409749	35406807	A A	ATATTGGA others(28): Show ATATTGGAATGTACTCAAAGAGTCTTTCATGTAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	462	0.0022	35	c.-21 others(46): Show c.-2164_-2163insACCTACATGAAAGACTCTTTGAGTACATTCCAAT A	NFKBIA	ENSG00000100906.12	transcript	ENST00000216797.10	protein_coding		2059		chr14	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCCCTCCC others(28): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03669.hp1 HG02735.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0150 a0001c0001t0001g0157	2	366	0.0055	35	c.90- others(48): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232995091	G G	GTATACTG others(28): Show GTATACTGTATATATATGTACAGTATGTATACTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02300.hp2 HG02486.hp1 others(5): Show HG01884.hp1 HG02300.hp2 HG02486.hp1 HG02886.hp1 HG02896.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0003 a0001c0001t0015 a0001c0001t0023 others(2): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0023 a0001c0002t0011 a0001c0011t0001	a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0015g0276 others(5): Show a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0015g0276 a0001c0001t0015g0280 a0001c0001t0015g0281 a0001c0001t0023g0011 a0001c0002t0011g0131 a0001c0011t0001g0088	8	362	0.0221	35	c.-75 others(54): Show c.-75+17976_-75+17977insTACAGTATACATACTGTACATATATA TACAGTATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995125	G G	GTACACTG others(28): Show GTACACTGTATATATATGTACAGTATGTACACTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00609.hp1 others(39): Show HG00140.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp2 HG01361.hp2 HG01515.hp2 HG02015.hp1 HG02071.hp1 HG02080.hp1 HG02723.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03942.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18992.hp2 NA18998.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp2 NA19056.hp2 NA19074.hp2 NA19080.hp2 NA19089.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006 a0002c0008 a0002c0009 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0012 a0001c0003t0005 a0001c0004t0004 a0001c0005t0006 a0001c0005t0007 a0002c0006t0001 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008 a0002c0008t0004 a0002c0009t0005 a0002c0015t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 others(39): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0005g0258 a0001c0001t0006g0013 a0001c0001t0006g0275 a0001c0001t0007g0092 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0002t0012g0225 a0001c0003t0005g0113 a0001c0004t0004g0072 a0001c0004t0004g0080 a0001c0004t0004g0090 a0001c0004t0004g0099 a0001c0004t0004g0226 a0001c0005t0006g0105 a0001c0005t0007g0227 a0002c0006t0001g0103 a0002c0006t0006g0018 a0002c0006t0006g0074 a0002c0006t0006g0076 a0002c0006t0006g0095 a0002c0006t0007g0031 a0002c0006t0008g0096 a0002c0006t0008g0100 a0002c0006t0008g0111 a0002c0006t0008g0124 a0002c0008t0004g0073 a0002c0008t0004g0078 a0002c0008t0004g0079 a0002c0008t0004g0081 a0002c0008t0004g0082 a0002c0008t0004g0091 a0002c0009t0005g0077 a0002c0015t0001g0110	42	362	0.1160	35	c.-75 others(54): Show c.-75+17942_-75+17943insTACAGTGTACATACTGTACATATATA TACAGTGTA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(28): Show CTGTATATATATACAGTATGTATACTATATACAGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0024 a0001c0004t0024	a0001c0004t0024g0010 a0001c0004t0024g0010	1	362	0.0028	35	c.-75 others(54): Show c.-75+17711_-75+17712insTACTGTATATAGTATACATACTGTAT ATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHSL2_chrX_71905845_72158286	72039067	T T	TTTTCCTT others(28): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0044 a0001c0001t0041g0044	1	187	0.0054	35	c.281 others(54): Show c.281-92964_281-92930dupTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17521366	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0158 a0008c0010t0003g0158	1	164	0.0061	35	c.565 others(56): Show c.565+145057_565+145058insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17615137	T T	TGTATATA others(28): Show TGTATATATATACGTGTATATATACTATATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0008 a0005c0006t0008	a0005c0006t0008g0161 a0005c0006t0008g0161	1	164	0.0061	35	c.566 others(54): Show c.566-72593_566-72559dupCGTGTATATATACTATATATATACGT ATATATATA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN1_chr1_184786032_184979508	184955307	T T	TTTTCCTT others(28): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03492.hp2 HG03688.hp1 others(1): Show HG03209.hp1 HG03492.hp2 HG03688.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0006c0015t0008 a0001c0001t0001 a0001c0001t0002 a0006c0015t0008	a0001c0001t0001g0088 a0001c0001t0001g0140 a0001c0001t0002g0089 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0140 a0001c0001t0002g0089 a0006c0015t0008g0017	4	256	0.0156	35	c.55+ others(52): Show c.55+18960_55+18994dupGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAA	NIBAN1	ENSG00000135842.17	transcript	ENST00000367511.4	protein_coding	1/13			chr1	TogoVar
NIBAN2_chr9_127500343_127574073	127509793	T T	TCCCTCTC others(28): Show TCCCTCTCCCCTCCTCTCCTTCCCTCCTTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02630.hp1 others(8): Show HG02055.hp1 HG02451.hp1 HG02630.hp1 HG02809.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03453.hp1 HG03471.hp2 NA18522.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0019	a0001c0001t0002g0260 a0001c0001t0002g0268 a0001c0001t0006g0036 others(8): Show a0001c0001t0002g0260 a0001c0001t0002g0268 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0034 a0001c0001t0010g0102 a0001c0001t0019g0132 a0001c0001t0019g0229	11	332	0.0331	35	c.116 others(52): Show c.1161+352_1161+353insGAGAGGGAAGGAGGGAAGGAGAGGAGGG GAGAGGG	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	9/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127509814	T T	TCCCTCTC others(28): Show TCCCTCTCCCCTCCTCTCCTTCCCTCCTTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02698.hp2 HG03239.hp2 others(1): Show HG01496.hp2 HG02698.hp2 HG03239.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0007 a0001c0001t0003 a0001c0001t0004 a0001c0002t0007	a0001c0001t0003g0281 a0001c0001t0003g0308 a0001c0001t0004g0039 others(1): Show a0001c0001t0003g0281 a0001c0001t0003g0308 a0001c0001t0004g0039 a0001c0002t0007g0127	4	332	0.0121	35	c.116 others(52): Show c.1161+331_1161+332insGAGAGGGAAGGAGGGAAGGAGAGGAGGG GAGAGGG	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	9/13			chr9	TogoVar
NID1_chr1_235970830_236070090	236038906	C C	CATAAATA others(28): Show CATAAATATATTACATATATGTAATATATATTAAAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp1 HG01243.hp2 others(22): Show HG01106.hp1 HG01169.hp1 HG01243.hp2 HG01261.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0008 a0012 a0017 a0023 a0024 a0039	a0001c0001 a0001c0006 a0001c0030 others(16): Show a0001c0001 a0001c0006 a0001c0030 a0002c0002 a0002c0008 a0002c0017 a0002c0065 a0002c0066 a0003c0007 a0004c0005 a0004c0009 a0006c0024 a0008c0027 a0012c0047 a0017c0031 a0017c0041 a0023c0036 a0024c0046 a0039c0063	a0001c0001t0003 a0001c0001t0007 a0001c0006t0002 others(19): Show a0001c0001t0003 a0001c0001t0007 a0001c0006t0002 a0001c0030t0003 a0002c0002t0001 a0002c0008t0001 a0002c0017t0001 a0002c0065t0003 a0002c0066t0001 a0003c0007t0001 a0003c0007t0003 a0004c0005t0003 a0004c0005t0004 a0004c0009t0002 a0006c0024t0005 a0008c0027t0001 a0012c0047t0003 a0017c0031t0002 a0017c0041t0002 a0023c0036t0003 a0024c0046t0002 a0039c0063t0014	a0001c0001t0003g0288 a0001c0001t0007g0301 a0001c0006t0002g0172 others(22): Show a0001c0001t0003g0288 a0001c0001t0007g0301 a0001c0006t0002g0172 a0001c0030t0003g0243 a0002c0002t0001g0290 a0002c0002t0001g0294 a0002c0002t0001g0318 a0002c0008t0001g0289 a0002c0017t0001g0244 a0002c0065t0003g0330 a0002c0066t0001g0331 a0003c0007t0001g0066 a0003c0007t0003g0021 a0004c0005t0003g0061 a0004c0005t0004g0026 a0004c0009t0002g0120 a0006c0024t0005g0024 a0008c0027t0001g0015 a0012c0047t0003g0284 a0017c0031t0002g0245 a0017c0031t0002g0267 a0017c0041t0002g0312 a0023c0036t0003g0282 a0024c0046t0002g0004 a0039c0063t0014g0319	25	334	0.0749	35	c.113 others(52): Show c.1136-688_1136-654dupATTTAATATATATTACATATATGTAATA TATTTAT	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	4/19			chr1	TogoVar
NID2_chr14_51999809_52074059	52030481	A A	AAAAGAAA others(28): Show AAAAGAAAAGAAAAGAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0303 a0004c0012t0002g0303	1	372	0.0027	35	c.225 others(52): Show c.2258-792_2258-791insCTTTCTTTCTTTCTTTCTTTTCTTTTCT TTTCTTT	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NIM1K_chr5_43187225_43285850	43285622	C C	CCCCCTCA others(28): Show CCCCCTCACCCCCAGGACACTTCAAGGCCATCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	292	0.0034	35	c.48 others(46): Show c.4893_*4894insCCCCTCACCCCCAGGACACTTCAAGGCCATCTTC T	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding		4773		chr5	TogoVar
NINJ1_chr9_93116496_93139251	93119178	G G	GGGGCAGG others(28): Show GGGGCAGGACTGGCTGGAGTGGATACATCAGGTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0103 a0001c0001t0016g0103	1	368	0.0027	35	c.30 others(46): Show c.3061_*3062insTGGACCTGATGTATCCACTCCAGCCAGTCCTGCC C	NINJ1	ENSG00000131669.10	transcript	ENST00000375446.5	protein_coding		2317		chr9	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	404	0.0025	35	c.33+ others(52): Show c.33+33431_33+33432insATATATATATATATTTTTTTTTTTTTTT TTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	404	0.0025	35	c.33+ others(52): Show c.33+33431_33+33432insATATATATATATATATTTTTTTTTTTTT TTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19074.hp2 HG01952.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0234 a0001c0001t0001g0247	2	404	0.0050	35	c.33+ others(52): Show c.33+33431_33+33432insATATATATATATATATATTTTTTTTTTT TTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	404	0.0025	35	c.33+ others(52): Show c.33+33431_33+33432insATATATATATATATATATATTTTTTTTT TTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02970.hp1 HG02976.hp1 others(2): Show HG00639.hp1 HG02970.hp1 HG02976.hp1 NA18972.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0054 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0002g0055	5	404	0.0124	35	c.33+ others(52): Show c.33+33431_33+33432insATATATATATATATATATATATTTTTTT TTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NIPBL_chr5_36871769_37071413	36934764	G G	GAGGCCAT others(28): Show GAGGCCATGGAAATAAATGAATTTTTGAAGAGCTAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	328	0.0031	35	c.-79 others(54): Show c.-79-18850_-79-18816dupCCATGGAAATAAATGAATTTTTGAAG AGCTATAGG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKAIN2_chr6_123798865_124830640	123937988	T T	TGAATCTG others(28): Show TGAATCTGATGCACACAGCTTCATGAGAAAACAAGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01243.hp2 others(51): Show HG00741.hp1 HG01109.hp1 HG01243.hp2 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18964.hp1 NA18964.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0003t0003	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(51): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0065 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0024 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0005g0009 a0001c0001t0005g0015 a0001c0001t0005g0031 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0007g0046 a0001c0001t0015g0023 a0001c0001t0016g0010 a0001c0001t0019g0021 a0001c0001t0020g0005 a0001c0001t0021g0027 a0001c0001t0022g0048 a0001c0002t0001g0008 a0001c0002t0003g0029 a0001c0002t0004g0045 a0001c0002t0004g0063 a0001c0002t0005g0020 a0001c0002t0009g0050 a0001c0002t0011g0064 a0001c0002t0013g0058 a0001c0002t0014g0022 a0001c0002t0018g0007 a0001c0003t0003g0037	54	66	0.8182	35	c.54+ others(54): Show c.54+133734_54+133735insGAATCTGATGCACACAGCTTCATGAG AAAACAAGC	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6			chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124369880	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	66	0.0152	35	c.273 others(54): Show c.273+14551_273+14552insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKX1-2_chr10_124440243_124455035	124444486	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	1	446	0.0022	35	c.29 others(46): Show c.2942_*2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		756		chr10	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAG others(28): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19009.hp1 NA19070.hp1 HG00621.hp1 NA19009.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0024 a0001c0002t0003g0095 a0001c0002t0003g0010 a0001c0002t0003g0024 a0001c0002t0003g0095	3	128	0.0234	35	c.473 others(54): Show c.473-19830_473-19796dupCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLK_chr17_28037677_28201381	28087775	A A	AGGTAGAT others(28): Show AGGTAGATGGTTAGCTTGGATGATTTCTAAGATTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19043.hp1 HG02257.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0105 a0001c0001t0005g0106	2	108	0.0185	35	c.459 others(54): Show c.459-34827_459-34793dupGGTAGATGGTTAGCTTGGATGATTTC TAAGATTCC	NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NLN_chr5_65717205_65834283	65738926	G G	GTATATAT others(28): Show GTATATATATGTATATATAAATATATATATATTATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0036 a0005c0009t0036	a0005c0009t0036g0256 a0005c0009t0036g0256	1	336	0.0030	35	c.41+ others(52): Show c.41+16513_41+16514insATATATATGTATATATAAATATATATAT ATTATAT	NLN	ENSG00000123213.23	transcript	ENST00000380985.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRC3_chr16_3534033_3582403	3569394	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0014 a0007c0012t0014	a0007c0012t0014g0344 a0007c0012t0014g0344	1	396	0.0025	35	c.-16 others(54): Show c.-168-2071_-168-2070insAAAAAAAAAAATATATATATATATAT ATATATATA	NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	1/19			chr16	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	394	0.0025	35	c.-11 others(54): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRP4_chr19_55831540_55886855	55838035	C C	CCAAAAAA others(28): Show CCAAAAAAAAAAAAAAAAAAAAGGAAAATGGCCCCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0026 a0002c0017t0026	a0002c0017t0026g0404 a0002c0017t0026g0404	1	424	0.0024	35	c.-66 others(52): Show c.-66+1101_-66+1102insCAAAAAAAAAAAAAAAAAAAAGGAAAAT GGCCCCA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19090.hp1 NA19057.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	413	0.0048	35	c.48 others(46): Show c.4818_*4819insAAAAAAAAAATATATATATATATATATATATATA T	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar

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Search Results (Total: 4618 hits)