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
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18943.hp1 NA18948.hp1 HG00438.hp2 NA18943.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0061 a0001c0001t0002g0098 a0001c0001t0006g0052 a0001c0001t0002g0061 a0001c0001t0002g0098 a0001c0001t0006g0052	3	384	0.0078	36	c.64 others(47): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAATATATATATATAT AT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01433.hp1 NA18949.hp1 HG01361.hp1 HG01433.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0208 a0001c0001t0002g0046 a0001c0001t0002g0070 a0001c0001t0001g0208 a0001c0001t0002g0046 a0001c0001t0002g0070	3	384	0.0078	36	c.64 others(47): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAATATATATATATATAT AT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	384	0.0026	36	c.64 others(47): Show c.6499_*6500insAAAAAAAAAAAAAAAAATATATATATATATATAT AT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRG1_chr8_32543311_32779046	32709398	A A	ATTTTATT others(29): Show ATTTTATTTTATTATTATTCATTTTTATTTTATTTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0049 a0002c0002t0049	a0002c0002t0049g0079 a0002c0002t0049g0079	1	244	0.0041	36	c.503 others(55): Show c.503-18521_503-18520insATTTATTTTTATTTTATTATTATTCA TTTTTATTTT	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp2 HG00621.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0086 a0001c0001t0001g0092	2	188	0.0106	36	c.700 others(55): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9			chr5	TogoVar
NRG3_chr10_81870194_82992178	82720810	C C	CATATACA others(29): Show CATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	66	0.0152	36	c.954 others(55): Show c.954-17762_954-17761insCATATATATATATATATATATATATA TATATATATA	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRGN_chr11_124734942_124752210	124736203	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 NA19240.hp2 HG01884.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	394	0.0051	36	c.-38 others(47): Show c.-3882_-3881insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	NRGN	ENSG00000154146.13	transcript	ENST00000284292.11	protein_coding		3738		chr11	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG03041.hp1 HG02056.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0003 a0001c0003t0002g0005 a0001c0002t0002g0003 a0001c0003t0002g0005	2	422	0.0047	36	c.-20 others(45): Show c.-208_-207insTCTCTCTCACACACACACACACACACACACACACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRP1_chr10_33172493_33339667	33188910	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03209.hp2 NA19240.hp2 HG02135.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0005 a0001c0002t0004 a0001c0005t0015 a0001c0001t0005 a0001c0002t0004 a0001c0005t0015	a0001c0001t0005g0045 a0001c0002t0004g0091 a0001c0005t0015g0098 a0001c0001t0005g0045 a0001c0002t0004g0091 a0001c0005t0015g0098	3	262	0.0115	36	c.206 others(55): Show c.2063-2423_2063-2422insATATATATATATATATATATATATAT ATATATATAT	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	13/16			chr10	TogoVar
NRSN1_chr6_24121215_24152530	24126152	A A	AGGCGGCG others(29): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	406	0.0025	36	c.-27 others(45): Show c.-271_-270insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		62		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150816	C C	CAAGAAAG others(29): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG02129.hp1 others(8): Show HG00741.hp2 HG01070.hp2 HG02129.hp1 HG02683.hp1 HG02809.hp1 HG03017.hp2 HG03453.hp2 NA18970.hp2 NA18984.hp2 NA19009.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0048	a0001c0001t0001g0216 a0001c0001t0002g0010 a0001c0001t0002g0202 others(6): Show a0001c0001t0001g0216 a0001c0001t0002g0010 a0001c0001t0002g0202 a0001c0001t0003g0025 a0001c0001t0003g0185 a0001c0001t0003g0234 a0001c0001t0005g0011 a0001c0001t0019g0087 a0001c0001t0048g0063	11	406	0.0271	36	c.48 others(47): Show c.4870_*4871insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3287		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150881	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18963.hp2 NA18969.hp2 others(2): Show HG01099.hp1 NA18963.hp2 NA18969.hp2 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0192 a0001c0001t0013g0246	5	406	0.0123	36	c.49 others(47): Show c.4935_*4936insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3352		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50277391	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0043 a0001c0001t0052g0043	1	116	0.0086	36	c.336 others(57): Show c.3365-40422_3365-40421insGAGGGAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAA others(29): Show AAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp2 HG06807.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0008 a0001c0002t0050 a0001c0001t0042 a0001c0002t0008 a0001c0002t0050	a0001c0001t0042g0045 a0001c0002t0008g0078 a0001c0002t0050g0107 a0001c0001t0042g0045 a0001c0002t0008g0078 a0001c0002t0050g0107	3	116	0.0259	36	c.336 others(57): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCCTT CTTTCTTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAG others(29): Show AAAGAAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03942.hp2 HG03225.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0058 a0001c0001t0002 a0001c0001t0058	a0001c0001t0002g0047 a0001c0001t0058g0067 a0001c0001t0002g0047 a0001c0001t0058g0067	2	116	0.0172	36	c.336 others(57): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCCTTCTTT CTTTTCTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373690	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA20905.hp1 HG00438.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0053 a0001c0002t0007 a0001c0001t0053 a0001c0002t0007	a0001c0001t0053g0052 a0001c0002t0007g0089 a0001c0001t0053g0052 a0001c0002t0007g0089	2	116	0.0172	36	c.336 others(57): Show c.3364+91751_3364+91752insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50447737	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0022 a0001c0001t0014g0022	1	116	0.0086	36	c.336 others(57): Show c.3364+17704_3364+17705insTATATATATATATATATATATATA TATATATATAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50598632	G G	GTATATAT others(29): Show GTATATATGTGTGTGTATCTATATACATATATATTCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0043 a0001c0001t0052g0043	1	116	0.0086	36	c.132 others(57): Show c.1320+21354_1320+21389dupTGAATATATATGTATATAGATACA CACACATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	8/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0083 a0001c0002t0005g0083	1	116	0.0086	36	c.833 others(55): Show c.833-60032_833-60031insATATATATATATATATATATTTTTTT TTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	1	116	0.0086	36	c.833 others(55): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATATAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50829999	G G	GAAAAAAA others(29): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0062 a0001c0001t0036g0062	1	116	0.0086	36	c.832 others(55): Show c.832+91869_832+91870insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NSG1_chr4_4382102_4424058	4411784	A A	ACAACACA others(29): Show ACAACACAACACAACACAACACAACACAACACAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02559.hp1 others(2): Show HG01891.hp1 HG02486.hp1 HG02559.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0142 a0001c0001t0003g0186 a0001c0001t0003g0197 others(2): Show a0001c0001t0003g0142 a0001c0001t0003g0186 a0001c0001t0003g0197 a0001c0001t0011g0066 a0001c0001t0011g0173	5	394	0.0127	36	c.357 others(53): Show c.357+2101_357+2102insCAACACAACACAACACAACACAACACAA CACAAAAC	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4			chr4	TogoVar
NSG2_chr5_174040706_174114179	174080525	T T	TTCTTTCT others(29): Show TTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	294	0.0034	36	c.213 others(55): Show c.213+16213_213+16214insTTCTCTCTCTCTCTCTCTCTCTCTCT TTCTCTCTCT	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSG2_chr5_174040706_174114179	174080525	T T	TTCTTTCT others(29): Show TTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	294	0.0034	36	c.213 others(55): Show c.213+16213_213+16214insTTCTCTCTCTCTCTCTCTCTCTCTTT CTCTCTCTCT	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSMCE2_chr8_125086860_125372120	125272759	A A	ATATATAT others(29): Show ATATATATACACACACACGTATATATATACACACGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	244	0.0041	36	c.419 others(55): Show c.419-84428_419-84427insCGTGTATATATACACACACACGTATA TATATACACA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125316732	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02293.hp2 HG01257.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0204 a0001c0001t0001g0205	2	244	0.0082	36	c.419 others(55): Show c.419-40483_419-40448dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125320233	A A	AGGGAAGG others(29): Show AGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	244	0.0041	36	c.419 others(55): Show c.419-36986_419-36985insGGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGG	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7			chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125320251	G G	GGGAGGGA others(29): Show GGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	244	0.0041	36	c.419 others(55): Show c.419-36965_419-36964insGGGAGGGAGGGAGGGAGGGAAGGAAG GAAGGAAGGA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE4A_chr10_121952091_121980217	121967595	A A	AGAAAAAG others(29): Show AGAAAAAGCAATTTAAGGTTCACAAATAACTGGTCAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	434	0.0023	36	c.653 others(49): Show c.653+59_653+60insATGACCAGTTATTTGTGAACCTTAAATTGCTT TTTC	NSMCE4A	ENSG00000107672.15	transcript	ENST00000369023.8	protein_coding	4/10			chr10	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0187 a0003c0003t0003g0187	1	388	0.0026	36	c.754 others(51): Show c.754-454_754-453insAAAAAAAAAAAAAATATATATATATATATA TATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA20905.hp2 NA18988.hp2 NA20905.hp2	a0003 a0010 a0003 a0010	a0003c0003 a0010c0008 a0003c0003 a0010c0008	a0003c0003t0003 a0010c0008t0003 a0003c0003t0003 a0010c0008t0003	a0003c0003t0003g0166 a0010c0008t0003g0190 a0003c0003t0003g0166 a0010c0008t0003g0190	2	388	0.0052	36	c.754 others(51): Show c.754-454_754-453insAAAAAAAAAAAATATATATATATATATATA TATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	346	0.0029	36	c.658 others(53): Show c.658-4633_658-4632insGTATGTATATATATATATATATATATAT ATATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN7_chr4_40744955_40816184	40801061	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGGAAGGGAGGGAGGAAAGAAGGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0167 a0003c0003t0014g0167	1	392	0.0026	36	c.140 others(55): Show c.1400+2172_1400+2173insAAGGGAGGGAGGAAAGAAGGGAGGGA GGGAGGGAGG	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	258	0.0039	36	c.101 others(57): Show c.1019-48646_1019-48645insAAAAAAAAAATATATATATATATA TATATATATATA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9204193	C C	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	258	0.0039	36	c.141 others(57): Show c.1412-16946_1412-16945insCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTNG1_chr1_107136039_107489923	107290984	T T	TTATATAT others(29): Show TTATATATATATATTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	150	0.0067	36	c.247 others(55): Show c.247-33298_247-33297insTATATATATATATTATATATATATAT ATATATATAC	NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	2/7			chr1	TogoVar
NTNG1_chr1_107136039_107489923	107386065	G G	GTATATAC others(29): Show GTATATACACATATATATACTTATATGTATGTATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0031 a0001c0006t0031	a0001c0006t0031g0053 a0001c0006t0031g0053	1	150	0.0067	36	c.888 others(53): Show c.888-9083_888-9082insCACATATATATACTTATATGTATGTATA TATATATA	NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTNG1_chr1_107136039_107489923	107386072	T T	TACATATA others(29): Show TACATATATATACTTATATGTATGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0143	1	150	0.0067	36	c.888 others(53): Show c.888-9046_888-9011dupCACATATATATACTTATATGTATGTATA TATATATA	NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTRK1_chr1_156855865_156886850	156869018	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02004.hp1 HG02135.hp2 others(2): Show HG00423.hp1 HG02004.hp1 HG02135.hp2 NA18950.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0005 a0001c0003 a0001c0006 a0002c0005	a0001c0003t0001 a0001c0006t0001 a0002c0005t0001 a0001c0003t0001 a0001c0006t0001 a0002c0005t0001	a0001c0003t0001g0068 a0001c0003t0001g0091 a0001c0003t0001g0139 others(2): Show a0001c0003t0001g0068 a0001c0003t0001g0091 a0001c0003t0001g0139 a0001c0006t0001g0097 a0002c0005t0001g0107	5	392	0.0128	36	c.717 others(51): Show c.717+408_717+443dupCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	NTRK1	ENSG00000198400.14	transcript	ENST00000524377.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTRK3_chr15_87854751_88261739	87886676	C C	CTACATAT others(29): Show CTACATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0029 a0001c0006t0006g0029	1	134	0.0075	36	c.213 others(53): Show c.2134-942_2134-941insTATATATATATATATATATATATATATA TATATGTA	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19			chr15	TogoVar
NUBP1_chr16_10738842_10774351	10764693	A A	ATTGGAGC others(29): Show ATTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	424	0.0024	36	c.820 others(53): Show c.820+2954_820+2989dupCAGTCTGCTGGAGTATGTCAGTCTGTTG GAGCATCT	NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUBPL_chr14_31556404_31866224	31739182	A A	ATATATAT others(29): Show ATATATATATATATTATATTCTATATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02559.hp2 others(2): Show HG02145.hp1 HG02486.hp1 HG02559.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0021 a0001c0002t0002 a0001c0003t0021	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 others(2): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0003t0021g0001	5	268	0.0187	36	c.514 others(55): Show c.514-48584_514-48549dupTATATTCTATATATATATTATATTAT ATATATATAT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(29): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02717.hp1 HG01081.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0242 a0001c0001t0002g0243	2	268	0.0075	36	c.514 others(55): Show c.514-27635_514-27634insTGTGTGTGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	268	0.0037	36	c.514 others(55): Show c.514-27635_514-27634insTGTGTGTGTGTGTGAGAGAGAGAGAG AGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19240.hp1 HG01358.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0140 a0001c0001t0004g0059 a0001c0001t0002g0140 a0001c0001t0004g0059	2	268	0.0075	36	c.514 others(55): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03490.hp1 HG03704.hp2 others(1): Show HG01346.hp2 HG03490.hp1 HG03704.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0028g0060	4	268	0.0149	36	c.514 others(55): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG03927.hp2 others(1): Show HG00140.hp1 HG00280.hp2 HG03927.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0011g0056	4	268	0.0149	36	c.514 others(55): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUDCD1_chr8_109235919_109339087	109311556	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0173 a0005c0005t0007g0173	1	360	0.0028	36	c.273 others(55): Show c.273+10752_273+10753insATATATATATATATATATATATATAT ATATATATAT	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0153 a0004c0004t0001g0153	1	360	0.0028	36	c.273 others(55): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATACACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDT12_chr5_103543855_103567789	103557280	G G	GGTATATA others(29): Show GGTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	438	0.0023	36	c.797 others(53): Show c.797-1183_797-1182insATATATATATATATATATATATATATAT ATATATAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar

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