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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
NAA15_chr4_139296505_139396384	139385286	A A	ATATATAT others(102): Show ATATATATATATATATATATATAATATATATATATATATATATATAATAT ATATATATAATATATATTATATAATATATATATAATATATTATATATATA TAATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	334	0.0030	109	c.230 others(126): Show c.2302+322_2302+323insTATATATAATATATATATATATATATAT ATAATATATATATATAATATATATTATATAATATATATATAATATATTAT ATATATATAATATATATTATATATATATATA	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NCK2_chr2_105739912_105899272	105807842	C C	CCTCCCTC others(102): Show CCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTC CCTCCCTTCTCTCCCTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTC CCTTCTATCT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0156 a0001c0001t0008g0156	1	334	0.0030	109	c.-20 others(128): Show c.-200-8574_-200-8573insTCTCTCCCTCCCTCCCTCCCTTCTCT CCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTCCCTTCTCTCCCT CCCTCCCTCCCTTCTATCTCTCCCTCCCTCCCT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOR1_chr17_16024157_16220534	16095637	G G	GGCCAGCC others(102): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCC CCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGGGGTCAGCC CCCCTGCCCA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	282	0.0036	109	c.282 others(128): Show c.2820+2729_2820+2730insTGGGCAGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGATGGGGTGGCTGGCGGGGGGGGGGGGGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095665	G G	GGGGGGGT others(102): Show GGGGGGGTCAGCCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGA GGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCATCCG GGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	282	0.0036	109	c.282 others(128): Show c.2820+2701_2820+2702insACCTCCCTCCCGGATGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGGGGCTGACCCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095665	G G	GGGGGGGT others(102): Show GGGGGGGTCAGCCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGA GGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCG GGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01258.hp2 HG01981.hp1 others(8): Show HG00280.hp2 HG01258.hp2 HG01981.hp1 HG02080.hp2 HG02451.hp2 HG02572.hp1 HG03225.hp1 HG03471.hp1 NA18983.hp1 NA19063.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0005t0001	a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0065 others(8): Show a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0007g0126 a0001c0001t0016g0005 a0001c0005t0001g0110	11	282	0.0390	109	c.282 others(128): Show c.2820+2701_2820+2702insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGGGGCTGACCCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(102): Show GGGGGTCAGCCCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAG GGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCG GGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	282	0.0036	109	c.282 others(128): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGATGGGGTGG CTGGCGGGGGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(102): Show GGGGGTCAGCCCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAG GGAGGTGGGGGGGGGGTCAGCCCCCCCCGCCCAGCCAGCCGCCCCGTCCG GGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	282	0.0036	109	c.282 others(128): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGG CTGGCGGGGGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095670	G G	GGTCAGCC others(102): Show GGTCAGCCCCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGG AGGTGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGA GGGAGGTGGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0175 a0001c0001t0013g0175	1	282	0.0036	109	c.282 others(128): Show c.2820+2696_2820+2697insACCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCGGGGGGGGGGGGGGGGGGGGGCTGAC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NEU4_chr2_241804193_241822413	241807167	C C	CGCAGGCC others(102): Show CGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACTCTCCCCTCTTAGCCC AGGGACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	319	0.0031	109	c.-21 others(120): Show c.-2111_-2110insGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACT CTCCCCTCTTAGCCCAGGGACCTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2025		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807370	A A	ACTCTCCC others(102): Show ACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	319	0.0031	109	c.-19 others(120): Show c.-1908_-1907insCTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1822		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807611	T T	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0002 a0001c0006t0001g0002	1	319	0.0031	109	c.-16 others(120): Show c.-1667_-1666insCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1581		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807652	C C	CCCTCTTA others(102): Show CCCTCTTAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	319	0.0031	109	c.-16 others(120): Show c.-1626_-1625insCCTCTTAGCCCAGGGACCTCTGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1540		chr2	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(102): Show TTATATATATATATATATATATATGTATATAATTATATAGGATTATATGT AGGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATA CATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02886.hp1 HG02896.hp2 HG01169.hp1 HG02886.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0066 a0001c0001t0003g0036 a0001c0001t0003g0135 a0001c0001t0001g0066 a0001c0001t0003g0036 a0001c0001t0003g0135	3	252	0.0119	109	c.600 others(126): Show c.6006+265_6006+266insTGTATATAATTATATAGGATTATATGTA GGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATAC ATATATATATATATATATATATATATATATA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(102): Show TTATATATATATATATATATATGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02145.hp2 HG02647.hp1 others(11): Show HG00558.hp1 HG02145.hp2 HG02647.hp1 HG03195.hp2 HG03516.hp1 NA18959.hp2 NA18966.hp2 NA19001.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19070.hp2 NA19074.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0004t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0006 a0001c0009t0001	a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0067 others(11): Show a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0003g0096 a0001c0004t0006g0164 a0001c0004t0006g0234 a0001c0004t0006g0235 a0001c0004t0006g0239 a0001c0009t0001g0122	14	252	0.0556	109	c.600 others(126): Show c.6006+264_6006+265insGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATATATATATATATATATATATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFATC1_chr18_79390930_79534323	79400825	C C	CCCCTCCC others(102): Show CCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCC CCCGACCTCCCCCTTCCCCCCCGACCTCCCCCCCGCGCCCCGACCTCCCC CCGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19085.hp2 NA18983.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0072 a0002c0002t0002g0061 a0001c0001t0002g0072 a0002c0002t0002g0061	2	322	0.0062	109	c.127 others(126): Show c.127+4477_127+4478insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTCCCCC CCGCGCCCCGACCTCCCCCCGCCCCCCTCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532064	G G	GGCCAACC others(102): Show GGCCAACCCCCACCCTGTGCCCGCCTGCAGCCCTCCGGCCAACCCCTACC CTGTGCCCGCCTGCAGCCCTCCGGCCAACCCCCACCCTGTGCCCGCCTGC AGCCCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA19000.hp1 HG02155.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0009 a0001c0001t0001 a0001c0006t0009	a0001c0001t0001g0268 a0001c0006t0009g0184 a0001c0001t0001g0268 a0001c0006t0009g0184	2	322	0.0062	109	c.44 others(120): Show c.4487_*4488insGCCAACCCCCACCCTGTGCCCGCCTGCAGCCCTC CGGCCAACCCCTACCCTGTGCCCGCCTGCAGCCCTCCGGCCAACCCCCAC CCTGTGCCCGCCTGCAGCCCCTCCA	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2742		chr18	TogoVar
NGEF_chr2_232873701_233018256	232995533	C C	CTGTATAT others(102): Show CTGTATATATATACAGTATGTATACTATATACAGTATGTATACTATATAC AGTATGTATACTATATACATACAGTATGTATACTATATATATACAGTATG TATACTATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0251 a0001c0002t0011g0251	1	362	0.0028	109	c.-75 others(128): Show c.-75+17534_-75+17535insATATAGTATACATACTGTATATATAT AGTATACATACTGTATGTATATAGTATACATACTGTATATAGTATACATA CTGTATATAGTATACATACTGTATATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOC4L_chr12_132139457_132157468	132156781	T T	TACACCAC others(102): Show TACACCACTACACACTACACACACACCACTACACACTACACACACACAAC ACACAACCACTATACACACACTACACACACCACTACACGCACACACTACA CACACTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	294	0.0034	109	c.43 others(120): Show c.4380_*4381insACACCACTACACACTACACACACACCACTACACA CTACACACACACAACACACAACCACTATACACACACTACACACACCACTA CACGCACACACTACACACACTACAC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4314		chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(102): Show GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp2 HG02523.hp2 others(10): Show HG01074.hp2 HG02109.hp2 HG02523.hp2 HG02572.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03471.hp2 NA18906.hp2 NA19240.hp1 NA21309.hp1	a0001 a0020 a0001 a0020	a0001c0003 a0001c0005 a0001c0016 others(5): Show a0001c0003 a0001c0005 a0001c0016 a0001c0019 a0001c0026 a0001c0044 a0001c0058 a0020c0046	a0001c0003t0008 a0001c0005t0008 a0001c0016t0004 others(7): Show a0001c0003t0008 a0001c0005t0008 a0001c0016t0004 a0001c0016t0012 a0001c0016t0020 a0001c0019t0008 a0001c0026t0015 a0001c0044t0008 a0001c0058t0021 a0020c0046t0018	a0001c0003t0008g0013 a0001c0005t0008g0006 a0001c0005t0008g0021 others(10): Show a0001c0003t0008g0013 a0001c0005t0008g0006 a0001c0005t0008g0021 a0001c0016t0004g0039 a0001c0016t0012g0015 a0001c0016t0012g0018 a0001c0016t0020g0016 a0001c0019t0008g0004 a0001c0026t0015g0014 a0001c0026t0015g0019 a0001c0044t0008g0022 a0001c0058t0021g0017 a0020c0046t0018g0020	13	324	0.0401	109	c.140 others(126): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(102): Show GGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0018 a0018	a0018c0042 a0018c0042	a0018c0042t0002 a0018c0042t0002	a0018c0042t0002g0037 a0018c0042t0002g0037	1	324	0.0031	109	c.140 others(126): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGATCCCCCCTCCACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535841	T T	TCACTCAG others(102): Show TCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTG GAGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0021 a0021	a0021c0068 a0021c0068	a0021c0068t0006 a0021c0068t0006	a0021c0068t0006g0145 a0021c0068t0006g0145	1	324	0.0031	109	c.140 others(126): Show c.140+8182_140+8183insCTCCCCTCTCCACCCACCCTGCACCCAT TGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH3_chr19_15154038_15205995	15173744	A A	AGAAGAAG others(102): Show AGAAGAAGAAGAAGAAGAAGAGGAGGAGGAGGAGGAGGAGGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG GAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0040 a0007c0040	a0007c0040t0013 a0007c0040t0013	a0007c0040t0013g0305 a0007c0040t0013g0305	1	340	0.0029	109	c.473 others(126): Show c.4736+323_4736+324insCTTCTTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCT CCTCCTCCTCCTCTTCTTCTTCTTCTTCTTC	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NPBWR2_chr20_64098802_64112565	64105607	T T	TGATGGGG others(102): Show TGATGGGGGTGATGATGGGGGTGGTGGGGGGGGGTGGGCGTGATGATGGG GGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGG TGATGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0056 a0004c0008t0056	a0004c0008t0056g0047 a0004c0008t0056g0047	1	355	0.0028	109	c.22 others(118): Show c.222_*223insCCCACCATCACCCCCACCCCCACCACCACCCCCACC ATCACCCCCATCATCACGCCCACCCCCATCATCACGCCCACCCCCCCCCA CCACCCCCATCATCACCCCCATC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	222		chr20	TogoVar
NRCAM_chr7_108142649_108461436	108299129	A A	AAAGAAAA others(102): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0021 a0001c0003t0004g0021	1	208	0.0048	109	c.-10 others(130): Show c.-107+13535_-107+13536insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NUDC_chr1_26916743_26951871	26927264	C C	CGTGTGTG others(102): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGTCTT GCTCTGTTGTCCCAGCTGGAGCACAGTGGCTGTAAGAAGGGAGAGAGATG AACCGTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	254	0.0039	109	c.159 others(126): Show c.159+3177_159+3178insTGTAAGAAGGGAGAGAGATGAACCGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGTCT TGCTCTGTTGTCCCAGCTGGAGCACAGTGGC	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
OMA1_chr1_58475719_58551726	58518277	G G	GAGGGGAG others(102): Show GAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAG AGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA GGGGAGAGGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	384	0.0026	109	c.121 others(128): Show c.1215+8983_1215+8984insTCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OPRL1_chr20_64075082_64105633	64094921	G G	GGGGGAGA others(102): Show GGGGGAGATGGTGTGGGGGGGATAGCGTGGGGGAGATCGTCTGGGGGGAT AGTGTCGGGGAGATGGTGTGGGGGGGATAGCGTGGGGAGATGGTATGGGG GGATAGTGTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	66	0.0152	109	c.233 others(126): Show c.233+2076_233+2077insCGGGGAGATGGTGTGGGGGGGATAGCGT GGGGGAGATCGTCTGGGGGGATAGTGTCGGGGAGATGGTGTGGGGGGGAT AGCGTGGGGAGATGGTATGGGGGGATAGTGT	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64105607	T T	TGATGGGG others(102): Show TGATGGGGGTGATGATGGGGGTGGTGGGGGGGGGTGGGCGTGATGATGGG GGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGG TGATGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	66	0.0152	109	c.68 others(120): Show c.6808_*6809insGATGGGGGTGATGATGGGGGTGGTGGGGGGGGGT GGGCGTGATGATGGGGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGG TGGTGGGGGTGGGGGTGATGGTGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding		4975		chr20	TogoVar
OR1F1_chr16_3183204_3211556	3207165	G G	GGAGGGGA others(102): Show GGAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGG GAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGAGGGGAAGG GAGGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01891.hp2 others(10): Show HG01069.hp1 HG01071.hp1 HG01891.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02818.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp1 NA18906.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0002 a0003c0003t0005g0090 a0003c0003t0005g0169 others(7): Show a0003c0003t0005g0002 a0003c0003t0005g0090 a0003c0003t0005g0169 a0003c0003t0005g0170 a0003c0003t0005g0176 a0003c0003t0005g0177 a0003c0003t0005g0178 a0003c0003t0005g0179 a0003c0003t0005g0180 a0003c0003t0005g0264	13	328	0.0396	109	c.19 others(120): Show c.1980_*1981insGAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGG AGAGGGGAGGGGAGGGAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGG AGGGGGAGGGGAAGGGAGGGGAGGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		610		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3207165	G G	GGAGGGGA others(102): Show GGAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGG GAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGAGGGGAGGG GAGGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(115): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18957.hp2 NA18963.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19068.hp2 NA19080.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0007 a0002c0009 others(2): Show a0001c0001 a0001c0007 a0002c0009 a0004c0004 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0001t0036 a0001c0001t0039 a0001c0001t0042 a0001c0007t0002 a0002c0009t0022 a0002c0009t0040 a0004c0004t0003 a0005c0005t0003 a0005c0005t0014 a0005c0005t0021	a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0013 others(109): Show a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0137 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0234 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0003g0007 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0193 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0235 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0003g0272 a0001c0001t0006g0008 a0001c0001t0006g0280 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0009g0012 a0001c0001t0009g0080 a0001c0001t0009g0168 a0001c0001t0010g0204 a0001c0001t0010g0236 a0001c0001t0014g0185 a0001c0001t0015g0030 a0001c0001t0017g0060 a0001c0001t0020g0122 a0001c0001t0029g0258 a0001c0001t0033g0101 a0001c0001t0036g0013 a0001c0001t0039g0059 a0001c0001t0042g0008 a0001c0007t0002g0171 a0001c0007t0002g0182 a0001c0007t0002g0183 a0001c0007t0002g0186 a0002c0009t0022g0199 a0002c0009t0040g0062 a0004c0004t0003g0025 a0004c0004t0003g0181 a0004c0004t0003g0190 a0004c0004t0003g0233 a0004c0004t0003g0250 a0004c0004t0003g0259 a0004c0004t0003g0260 a0004c0004t0003g0261 a0004c0004t0003g0262 a0004c0004t0003g0273 a0005c0005t0003g0198 a0005c0005t0003g0201 a0005c0005t0003g0202 a0005c0005t0003g0228 a0005c0005t0003g0229 a0005c0005t0014g0021 a0005c0005t0021g0021	118	328	0.3598	109	c.19 others(120): Show c.1980_*1981insGAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGG AGAGGGGAGGGGAGGGAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGG AGGGGGAGGGGAGGGGAGGGGAGGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		610		chr16	TogoVar
OR1J4_chr9_122514141_122525082	122515390	G G	GTGTGTGT others(102): Show GTGTGTGTGTGTATACGGGTGCTCAGCATTTGTCTGTGCTCTTCTGGAGT CATTTTTTATTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	440	0.0023	109	c.-37 others(120): Show c.-3751_-3750insTGTGTGTGTGTATACGGGTGCTCAGCATTTGTCT GTGCTCTTCTGGAGTCATTTTTTATTCCGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTA	OR1J4	ENSG00000239590.1	transcript	ENST00000340750.1	protein_coding		3750		chr9	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(102): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATT TTATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01978.hp1 HG02040.hp2 others(14): Show HG00099.hp1 HG01978.hp1 HG02040.hp2 HG02074.hp1 HG02257.hp1 HG02818.hp1 HG03831.hp1 HG04204.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18954.hp1 NA18981.hp1 NA18993.hp2 NA19011.hp2 NA19088.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0007 a0003c0003 a0002c0002 a0002c0007 a0003c0003	a0002c0002t0000 a0002c0007t0000 a0003c0003t0000 a0002c0002t0000 a0002c0007t0000 a0003c0003t0000	a0002c0002t0000g0000 a0002c0007t0000g0000 a0003c0003t0000g0000 a0002c0002t0000g0000 a0002c0007t0000g0000 a0003c0003t0000g0000	17	402	0.0423	109	c.35 others(120): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATATTTTATTTTATT	OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding		3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(102): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02523.hp2 NA18941.hp2 others(2): Show HG01106.hp1 HG02523.hp2 NA18941.hp2 NA18970.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0003 a0002c0002 a0002c0005 a0003c0003	a0002c0002t0000 a0002c0005t0000 a0003c0003t0000 a0002c0002t0000 a0002c0005t0000 a0003c0003t0000	a0002c0002t0000g0000 a0002c0005t0000g0000 a0003c0003t0000g0000 a0002c0002t0000g0000 a0002c0005t0000g0000 a0003c0003t0000g0000	5	402	0.0124	109	c.35 others(120): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATATTTTATT	OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding		3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(102): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01981.hp2 others(3): Show HG01168.hp2 HG01169.hp1 HG01981.hp2 HG02809.hp2 HG03579.hp2 NA19075.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0002c0007 others(1): Show a0002c0002 a0002c0005 a0002c0007 a0003c0003	a0002c0002t0000 a0002c0005t0000 a0002c0007t0000 others(1): Show a0002c0002t0000 a0002c0005t0000 a0002c0007t0000 a0003c0003t0000	a0002c0002t0000g0000 a0002c0005t0000g0000 a0002c0007t0000g0000 others(1): Show a0002c0002t0000g0000 a0002c0005t0000g0000 a0002c0007t0000g0000 a0003c0003t0000g0000	6	402	0.0149	109	c.35 others(120): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATATT	OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding		3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(102): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18939.hp1 NA18950.hp1 others(3): Show HG00609.hp2 NA18939.hp1 NA18950.hp1 NA18993.hp1 NA19011.hp1 NA19081.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0000 a0003c0003t0000 a0002c0002t0000 a0003c0003t0000	a0002c0002t0000g0000 a0003c0003t0000g0000 a0002c0002t0000g0000 a0003c0003t0000g0000	6	402	0.0149	109	c.35 others(120): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATATTTTATT	OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding		3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(102): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	402	0.0025	109	c.35 others(120): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATATT	OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding		3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(102): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	402	0.0025	109	c.35 others(120): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATATT	OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding		3515		chr11	TogoVar
OR4X1_chr11_48258861_48269778	48268293	T T	TTTTATTT others(102): Show TTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTT TATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0000 a0003c0003t0000g0000	1	402	0.0025	109	c.35 others(120): Show c.3515_*3516insTTTATTTTATTTTATTTTATATTTTATTTTATTT TATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTA	OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding		3516		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844208	A A	AATATATA others(102): Show AATATATATTTATATATATTTTTATATATAATATATATTATATATATTAT ATATATTATATATTATATATATTATATTATATATAATATATATTATATAT ATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	109	c.-23 others(120): Show c.-2312_-2311insAATATATAATATATATAATATATATTATATATAA TATAATATATATAATATATAATATATATAATATATATAATATATATTATA TATAAAAATATATATAAATATATAT	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2312		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844216	T T	TTTATATA others(102): Show TTTATATATATTTTTATATATAATATATATTATATATATTATATATATTA TATATTATATATATTATATTATATATAATATATATTATATATAATATATA TTATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03239.hp2 HG02698.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	450	0.0044	109	c.-23 others(120): Show c.-2320_-2319insTTATATATAATATATATTATATATAATATATATT ATATATAATATAATATATATAATATATAATATATATAATATATATAATAT ATATTATATATAAAAATATATATAA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2320		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TATATTAT others(102): Show TATATTATATATTATATATATTATATTATATATAATATATATTATATATA ATATATATTATATATATTATATATAATATATATTATATATAATATATATA ATATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA19054.hp2 NA19063.hp1 NA18971.hp1 NA19054.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	450	0.0067	109	c.-23 others(120): Show c.-2357_-2356insTAATATATATTATATATATTATATATAATATATA TTATATATAATATATATAATATATATTATATATAATATATATTATATATA ATATAATATATATAATATATAATAT	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
PADI4_chr1_17303197_17369004	17351984	G G	GGTGGGAA others(102): Show GGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCA GTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGG GAGGTGGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01123.hp2 others(2): Show HG00280.hp1 HG01081.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0043 a0003c0003t0001g0174 a0003c0003t0001g0177 others(2): Show a0001c0001t0001g0043 a0003c0003t0001g0174 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179	5	372	0.0134	109	c.115 others(128): Show c.1156-2548_1156-2547insTGGGAAGAGAGGCAGTCAGGGAGGTG ATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGA GAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352009	G G	GAGGTGGT others(102): Show GAGGTGGTAGAAAAGGCAGTCAGGGAGCTGATGGGAGGCAGTAGGAGAGG CGGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGAGAC AGGAGGCAGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02897.hp2 others(6): Show HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0001 a0002c0002t0001 a0002c0010t0001 a0001c0001t0001 a0002c0002t0001 a0002c0010t0001	a0001c0001t0001g0017 a0001c0001t0001g0021 a0002c0002t0001g0263 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0002c0002t0001g0263 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0010t0001g0343	9	372	0.0242	109	c.115 others(128): Show c.1156-2521_1156-2520insTGGTAGAAAAGGCAGTCAGGGAGCTG ATGGGAGGCAGTAGGAGAGGCGGTCAGGGAGGTGATGGGAGGTGGGAGGA GAGGCGGCCAGGGAGGAGACAGGAGGCAGTAGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352038	G G	GGTGGGAG others(102): Show GGTGGGAGGAGAGGCGGCCAGGGAGGAGACAGGAGGCAGTAGGAGAGGCC GTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGG GAGGTGGGAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19030.hp2 HG03195.hp2 NA19030.hp2	a0002 a0005 a0002 a0005	a0002c0015 a0005c0008 a0002c0015 a0005c0008	a0002c0015t0001 a0005c0008t0001 a0002c0015t0001 a0005c0008t0001	a0002c0015t0001g0329 a0005c0008t0001g0363 a0002c0015t0001g0329 a0005c0008t0001g0363	2	372	0.0054	109	c.115 others(128): Show c.1156-2494_1156-2493insTGGGAGGAGAGGCGGCCAGGGAGGAG ACAGGAGGCAGTAGGAGAGGCCGTCAGGGAGGTGATGGGAGGTGGGAGGA GAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA_chr9_116148791_116407321	116374079	C C	CTGGTGAT others(102): Show CTGGTGATGATGGTGGTGGTAGTGGTGGTGCTATGATGATGATGATAAAA AGAAGATGGTGCAGATGATGGTGGTAGTGTTGGTGGTGGTGTTGATGATG ATGATGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0071 a0001c0002t0008g0071	1	234	0.0043	109	c.460 others(128): Show c.4606-3494_4606-3386dupGTGATGATGGTGGTGGTAGTGGTGGT GCTATGATGATGATGATAAAAAGAAGATGGTGCAGATGATGGTGGTAGTG TTGGTGGTGGTGTTGATGATGATGATGGTGGTG	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PARD3_chr10_34104561_34820296	34605543	A A	ATATATAT others(102): Show ATATATATCTCCTATATATATATATCTCCTATATATATATATCTCCTATA TATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATATAT ATATATCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0034 a0001c0003t0004g0034	1	100	0.0100	109	c.223 others(128): Show c.223-88385_223-88384insGGAGATATATATATATAGGAGATATA TATATAGGAGATATATATATATAGGAGATATATATATAGGAGATATATAT ATATAGGAGATATATATATATAGGAGATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605545	A A	ATATATAT others(102): Show ATATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATATA TATATATCTCCTATATATATATATCTCCTATATATATATATCTCCTATAT ATATATCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	100	0.0100	109	c.223 others(128): Show c.223-88387_223-88386insGGAGATATATATATAGGAGATATATA TATATAGGAGATATATATATATAGGAGATATATATATATAGGAGATATAT ATATAGGAGATATATATATATAGGAGATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605988	A A	ATCTCTCC others(102): Show ATCTCTCCTATATATATATCTCCTATATATATATCTCCTATATATATATC TCCTATATATATATCTCCTATATATATATATATCTCCTATATATATATAT CTCCTATATC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0012 a0001c0014t0002g0012	1	100	0.0100	109	c.223 others(128): Show c.223-88830_223-88829insGATATAGGAGATATATATATATAGGA GATATATATATATATAGGAGATATATATATAGGAGATATATATATAGGAG ATATATATATAGGAGATATATATATAGGAGAGA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARP9_chr3_122522924_122569300	122539563	C C	CTTTCTTT others(102): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0322 a0002c0001t0001g0322	1	436	0.0023	109	c.176 others(126): Show c.1765+908_1765+909insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGCG others(102): Show GGGGGGCGGGGGGTCAGCTGGGGCGGGGGGCGGGGGGGGCGGGGGGGGGC GGGGGGGCGGGGGGCGGCGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGG GCGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	221	0.0045	109	c.-95 others(118): Show c.-958_-957insGGGGGCGGGGGGTCAGCTGGGGCGGGGGGCGGGGGG GGCGGGGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGGCGGGGGGCGGCG GGGGGCGGGGGGGGCGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar

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Search Results (Total: 10000 hits)