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
LOC400499_chr16_11367015_11532247	11499120	AAGGGGGG others(84): Show AAGGGGGGAAGGGAGGCAGAGGGGAGGGGGGAAGGGAGGCAGAGGGGAGG GGGGAGGGAGGCAGAGGGGAGGGGGGAAGGGAGGCAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG00741.hp2 others(25): Show HG00408.hp1 HG00738.hp1 HG00741.hp2 HG01109.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG02155.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG04115.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2	a0018 a0025 a0026 others(22): Show a0018 a0025 a0026 a0060 a0061 a0064 a0065 a0066 a0075 a0079 a0091 a0110 a0146 a0147 a0148 a0199 a0213 a0214 a0247 a0248 a0249 a0250 a0251 a0252 a0253	a0018c0009 a0025c0020 a0026c0025 others(22): Show a0018c0009 a0025c0020 a0026c0025 a0060c0085 a0061c0084 a0064c0055 a0065c0057 a0066c0056 a0075c0078 a0079c0079 a0091c0058 a0110c0054 a0146c0099 a0147c0100 a0148c0101 a0199c0176 a0213c0190 a0214c0191 a0247c0046 a0248c0048 a0249c0047 a0250c0049 a0251c0050 a0252c0045 a0253c0270	a0018c0009t0002 a0025c0020t0003 a0026c0025t0006 others(22): Show a0018c0009t0002 a0025c0020t0003 a0026c0025t0006 a0060c0085t0006 a0061c0084t0004 a0064c0055t0008 a0065c0057t0002 a0066c0056t0006 a0075c0078t0002 a0079c0079t0004 a0091c0058t0002 a0110c0054t0004 a0146c0099t0001 a0147c0100t0008 a0148c0101t0002 a0199c0176t0003 a0213c0190t0006 a0214c0191t0005 a0247c0046t0002 a0248c0048t0001 a0249c0047t0001 a0250c0049t0002 a0251c0050t0002 a0252c0045t0004 a0253c0270t0002	a0018c0009t0002g0052 a0018c0009t0002g0139 a0025c0020t0003g0088 others(25): Show a0018c0009t0002g0052 a0018c0009t0002g0139 a0025c0020t0003g0088 a0025c0020t0003g0089 a0026c0025t0006g0005 a0026c0025t0006g0006 a0060c0085t0006g0040 a0061c0084t0004g0045 a0064c0055t0008g0298 a0065c0057t0002g0297 a0066c0056t0006g0007 a0075c0078t0002g0039 a0079c0079t0004g0157 a0091c0058t0002g0291 a0110c0054t0004g0065 a0146c0099t0001g0242 a0147c0100t0008g0029 a0148c0101t0002g0142 a0199c0176t0003g0027 a0213c0190t0006g0159 a0214c0191t0005g0158 a0247c0046t0002g0295 a0248c0048t0001g0270 a0249c0047t0001g0221 a0250c0049t0002g0057 a0251c0050t0002g0194 a0252c0045t0004g0164 a0253c0270t0002g0292	28	310	0.0903	-91	c.124 others(110): Show c.1245+1593_1245+1683delCCCCTCTGCCTCCCTTCCCCCCTCCC CTCTGCCTCCCTCCCCCCTCCCCTCTGCCTCCCTTCCCCCCTCCCCTCTG CCTCCCTTCCCCCCT	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66			chr16	TogoVar
MAP1LC3C_chr1_241990490_242004098	242004007	GTGGGTGG others(84): Show GTGGGTGGATCACTGAAGATCAGGAGTCCAAGGCCAGCCTGGCCAACAAG GTGAAACCCCGTCTTTACTAAAAATACAAAAATTAGCCGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19076.hp2 NA19072.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	452	0.0044	-91	c.-50 others(102): Show c.-5090_-5000delTGCCGGCTAATTTTTGTATTTTTAGTAAAGACGG GGTTTCACCTTGTTGGCCAGGCTGGCCTTGGACTCCTGATCTTCAGTGAT CCACCCA	MAP1LC3C	ENSG00000197769.6	transcript	ENST00000357246.4	protein_coding		4910		chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19452059	AGAAGAGA others(84): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	163	0.0061	-91	c.995 others(108): Show c.995+4763_995+4853delCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452260	GAAGAGAA others(84): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG02132.hp1 others(4): Show HG01928.hp1 HG01934.hp1 HG02132.hp1 NA18952.hp1 NA18970.hp1 NA18982.hp1 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0057 others(4): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0094 a0002c0002t0001g0112	7	163	0.0429	-91	c.995 others(108): Show c.995+4562_995+4652delTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MARS1_chr12_57483068_57521652	57493787	TATTATAT others(84): Show TATTATATATTATATTATATAATGTATATTATATATATTATATTATATAT TATAATATATAATATATATATTTATATTATATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03654.hp2 NA19081.hp1 HG02818.hp2 HG03654.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0276 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0276	3	288	0.0104	-91	c.770 others(108): Show c.770+3146_770+3236delTATATATTATATTATATAATGTATATTA TATATATTATATTATATATTATAATATATAATATATATATTTATATTATA TAATATATATAAT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MBD3L2_chr19_7044321_7056735	7053457	ATATATTA others(84): Show ATATATTATAATATAATTTATATGTTATATAATTATATTATATATAATAT AATTTATATGTTATATAATTATATTATATATATAATATAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	258	0.0039	-91	c.18 others(102): Show c.1836_*1926delTATATTATAATATAATTTATATGTTATATAATTA TATTATATATAATATAATTTATATGTTATATAATTATATTATATATATAA TATAATT	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		1723		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053457	ATATATTA others(84): Show ATATATTATAATATAATTTATATGTTATATAATTATATTATATATAATAT AATTTATATGTTATATAATTATATTATATATATAATATAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	288	0.0035	-91	c.27 others(102): Show c.2774_*2864delAATTATATTATATATATAATATAATTATATAACA TATAAATTATATTATATATAATATAATTATATAACATATAAATTATATTA TAATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2749		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3578814	GAACGTGG others(84): Show GAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCTGGGGAGACC CAGCACCTCTGCAGAACCCCTCCTCAGCCCGGCCCCCAGCGC	G G	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0026 a0026	a0026c0101 a0026c0101	a0026c0101t0003 a0026c0101t0003	a0026c0101t0003g0221 a0026c0101t0003g0221	1	292	0.0034	-91	c.481 others(107): Show c.481+920_481+1010delGCGCTGGGGGCCGGGCTGAGGAGGGGTTC TGCAGAGGTGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTCCTGC CCACTCCACGTT	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MGAM_chr7_141990879_142111747	142043506	ATACATAT others(84): Show ATACATATAATATCTAAATATAATATGAATTATATAGATATATCTAAATA TATATATTATATATACATATGATATCTAAATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04228.hp2 HG03710.hp1 HG04228.hp2	a0020 a0020	a0020c0025 a0020c0025	a0020c0025t0001 a0020c0025t0001	a0020c0025t0001g0069 a0020c0025t0001g0082 a0020c0025t0001g0069 a0020c0025t0001g0082	2	316	0.0063	-91	c.249 others(110): Show c.2498+2661_2498+2751delTACATATAATATCTAAATATAATATG AATTATATAGATATATCTAAATATATATATTATATATACATATGATATCT AAATATATAATATAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70			chr7	TogoVar
MLPH_chr2_237482251_237560322	237544550	CACTTTAG others(84): Show CACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTG GTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATTGGGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19082.hp1 HG00544.hp1 NA19082.hp1	a0002 a0004 a0002 a0004	a0002c0049 a0004c0005 a0002c0049 a0004c0005	a0002c0049t0002 a0004c0005t0004 a0002c0049t0002 a0004c0005t0004	a0002c0049t0002g0060 a0004c0005t0004g0220 a0002c0049t0002g0060 a0004c0005t0004g0220	2	286	0.0070	-91	c.153 others(110): Show c.1539+1893_1540-1964delCTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGG TGATTGGGCACTGTA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMEL1_chr1_2585639_2638016	2592425	CCCCCTCC others(84): Show CCCCCTCCCCTGCCATGCTGACGCCCCCTCCCCTGCCGTGCTGGCGCCCC CTCCCCTGCCGCGCTGACGCCCCCTCCCCTGCCGCGCTGACG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp2 HG06807.hp1 HG02280.hp2 HG02965.hp2 HG06807.hp1	a0002 a0006 a0002 a0006	a0002c0008 a0006c0009 a0002c0008 a0006c0009	a0002c0008t0001 a0006c0009t0004 a0002c0008t0001 a0006c0009t0004	a0002c0008t0001g0049 a0002c0008t0001g0050 a0006c0009t0004g0277 a0002c0008t0001g0049 a0002c0008t0001g0050 a0006c0009t0004g0277	3	343	0.0088	-91	c.206 others(108): Show c.2067+139_2067+229delCGTCAGCGCGGCAGGGGAGGGGGCGTCA GCGCGGCAGGGGAGGGGGCGCCAGCACGGCAGGGGAGGGGGCGTCAGCAT GGCAGGGGAGGGG	MMEL1	ENSG00000142606.16	transcript	ENST00000378412.8	protein_coding	21/23			chr1	TogoVar
MRPS23_chr17_57829781_57855044	57846214	GCCCCCGC others(84): Show GCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTAGCCA CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG03195.hp1 others(1): Show HG02630.hp2 HG02922.hp1 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0041 a0001c0001t0108 a0001c0001t0029 a0001c0001t0041 a0001c0001t0108	a0001c0001t0029g0228 a0001c0001t0029g0230 a0001c0001t0041g0229 others(1): Show a0001c0001t0029g0228 a0001c0001t0029g0230 a0001c0001t0041g0229 a0001c0001t0108g0259	4	396	0.0101	-91	c.215 others(108): Show c.215+2935_215+3025delTGCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGTCGGGCGGTGGCTACCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCAGGCGGGGG	MRPS23	ENSG00000181610.13	transcript	ENST00000313608.13	protein_coding	2/4			chr17	TogoVar
MYT1_chr20_64159452_64247253	64175683	CCTGTAGC others(84): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp2 HG01192.hp2 others(14): Show HG00733.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01928.hp1 HG02040.hp2 HG02630.hp1 HG02630.hp2 NA18612.hp1 NA18995.hp2 NA19004.hp2 NA19011.hp1 NA19058.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 a0001c0004t0004	a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0051 others(13): Show a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0219 a0001c0001t0013g0022 a0001c0002t0002g0001 a0001c0002t0002g0064 a0001c0002t0002g0082 a0001c0004t0004g0078	17	223	0.0762	-91	c.-99 others(110): Show c.-99+10947_-99+11037delGTAGCATCTTTCCTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTC CCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NDST3_chr4_118029486_118263634	118066495	TATGTTAT others(84): Show TATGTTATATATTATATATACATTATATATGTTATATATTATATATACAT TATATATAATATGTTATATATTATATATACATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02451.hp1 others(6): Show HG01243.hp1 HG02109.hp2 HG02451.hp1 HG02572.hp1 HG02922.hp2 HG03195.hp2 HG03540.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0018 a0001c0004 a0001c0007 a0001c0018	a0001c0004t0001 a0001c0004t0003 a0001c0007t0001 others(1): Show a0001c0004t0001 a0001c0004t0003 a0001c0007t0001 a0001c0018t0003	a0001c0004t0001g0197 a0001c0004t0001g0199 a0001c0004t0001g0202 others(6): Show a0001c0004t0001g0197 a0001c0004t0001g0199 a0001c0004t0001g0202 a0001c0004t0003g0196 a0001c0004t0003g0205 a0001c0007t0001g0200 a0001c0007t0001g0201 a0001c0007t0001g0204 a0001c0018t0003g0071	9	216	0.0417	-91	c.981 others(110): Show c.981+11634_981+11724delGTTATATATTATATATACATTATATA TAATATGTTATATATTATATATACATTATATATAACATGTTATATATTAT ATATACATTATATAT	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NELL2_chr12_44503278_44881315	44797880	TGATGGAA others(84): Show TGATGGAATAAAACCATTCCATCCTAGATGGAATGATGGAATAAAACCAT TCCATCCTAGATGGAATGATGGAATAAAATCATTCCATCCTA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01081.hp2 others(27): Show HG00438.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01891.hp1 HG01993.hp1 HG02056.hp1 HG02135.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG03017.hp1 HG03486.hp2 HG03669.hp1 HG04204.hp2 NA18906.hp1 NA19043.hp2 NA19056.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0003c0004t0001 a0004c0005t0001 a0004c0005t0005	a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0085 others(27): Show a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0002g0111 a0001c0001t0002g0124 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0136 a0001c0001t0004g0016 a0001c0001t0005g0034 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0006g0029 a0001c0001t0006g0030 a0003c0004t0001g0100 a0004c0005t0001g0083 a0004c0005t0005g0042	30	158	0.1899	-91	c.336 others(110): Show c.336-17949_336-17859delTAGGATGGAATGATTTTATTCCATCA TTCCATCTAGGATGGAATGGTTTTATTCCATCATTCCATCTAGGATGGAA TGGTTTTATTCCATC	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44797893	CCATTCCA others(84): Show CCATTCCATCCTAGATGGAATGATGGAATAAAACCATTCCATCCTAGATG GAATGATGGAATAAAATCATTCCATCCTAGATGGAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01258.hp2 HG00140.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0149 a0001c0001t0003g0135 a0001c0001t0001g0149 a0001c0001t0003g0135	2	158	0.0127	-91	c.336 others(110): Show c.336-17962_336-17872delATTTTATTCCATCTAGGATGGAATGA TTTTATTCCATCATTCCATCTAGGATGGAATGGTTTTATTCCATCATTCC ATCTAGGATGGAATG	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44797959	TCATTCCA others(84): Show TCATTCCATCCTAGATGGAATAAAATCATTCCATCCTAGATGGAATGATG GAATAAAAGCATTCCATCCTAGATGGAATGATGGAATAAAAG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA20905.hp1 HG01081.hp1 NA20905.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0086 a0003c0004t0001g0142 a0003c0004t0001g0086 a0003c0004t0001g0142	2	158	0.0127	-91	c.335 others(110): Show c.335+17936_336-17938delCTTTTATTCCATCATTCCATCTAGGA TGGAATGCTTTTATTCCATCATTCCATCTAGGATGGAATGATTTTATTCC ATCTAGGATGGAATG	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19			chr12	TogoVar
NFATC1_chr18_79390930_79534323	79521921	GGCGTCTG others(84): Show GGCGTCTGCTGATGTGTGTGTTTTGTGTGTGGGAGGTTGTCTGCTGTGTG TGGGGAGGGGGCATCTGCTGATATGTGTGTCTGTGCATGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02109.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0048 a0001c0008t0046 a0001c0006t0048 a0001c0008t0046	a0001c0006t0048g0049 a0001c0008t0046g0284 a0001c0006t0048g0049 a0001c0008t0046g0284	2	322	0.0062	-91	c.278 others(110): Show c.2783-5605_2783-5515delCGTCTGCTGATGTGTGTGTTTTGTGT GTGGGAGGTTGTCTGCTGTGTGTGGGGAGGGGGCATCTGCTGATATGTGT GTCTGTGCATGTGTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP8_chr19_55942832_55993629	55993465	CCTCTCTC others(84): Show CCTCTCTCCCCCCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0000 a0000	a0000c0017 a0000c0017	a0000c0017t0021 a0000c0017t0021	a0000c0017t0021g0177 a0000c0017t0021g0177	1	350	0.0029	-91	c.55 others(102): Show c.5553_*5643delCTCTCTCCCCCCTCCCTCCCCCTCTCCCCCCTCC CCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCC TCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4837		chr19	TogoVar
NMRK2_chr19_3928069_3947416	3938290	GGGGTCCG others(84): Show GGGGTCCGCCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTCCCCCGGGG TCCACCCTCCTGCAATACCTGCTCCCCGTCCACTATCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02109.hp2 others(11): Show HG01243.hp1 HG01884.hp2 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03516.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0004 a0001c0001t0002 a0003c0006t0004	a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0058 others(7): Show a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0058 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0003c0006t0004g0025 a0003c0006t0004g0026	14	404	0.0347	-91	c.167 others(106): Show c.167-229_167-139delATCCCCCAGGGTCCGCCCTCCTGCAATGCC CGCTCCCCGTCCACTGTTCCCCCGGGGTCCACCCTCCTGCAATACCTGCT CCCCGTCCACT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NRCAM_chr7_108142649_108461436	108163834	GGGGTGGC others(84): Show GGGGTGGCGGTAATGAGAGGTCATACTGGGTGGGGTGGCGGTAATGAGAG GTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02055.hp1 HG02572.hp1	a0002 a0004 a0002 a0004	a0002c0022 a0004c0025 a0002c0022 a0004c0025	a0002c0022t0019 a0004c0025t0006 a0002c0022t0019 a0004c0025t0006	a0002c0022t0019g0168 a0004c0025t0006g0097 a0002c0022t0019g0168 a0004c0025t0006g0097	2	208	0.0096	-91	c.346 others(110): Show c.3466+2996_3466+3086delACCCGGTATGACCTCTCACTACCCCA CCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCAGTATGACCTC TCATTACCGCCACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRIP3_chr11_8975576_9009001	8978164	CCCCTCCG others(84): Show CCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCC CGGCAGCCACCCCGACCGGGAGGGAGGTGGGGGGGGGGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	406	0.0025	-91	c.52 others(102): Show c.5290_*5380delCTGACCCCCCCCCCACCTCCCTCCCGGTCGGGGT GGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGA CGGAGGG	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		2411		chr11	TogoVar
NRIP3_chr11_8975576_9009001	8978632	GTCAGCCC others(84): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGG TCAGCCCTCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03139.hp2 HG03710.hp1 HG02109.hp1 HG03139.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0023 a0001c0001t0004 a0001c0001t0021 a0001c0001t0023	a0001c0001t0004g0236 a0001c0001t0021g0228 a0001c0001t0023g0261 a0001c0001t0004g0236 a0001c0001t0021g0228 a0001c0001t0023g0261	3	406	0.0074	-91	c.48 others(102): Show c.4822_*4912delACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGCTGA	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1943		chr11	TogoVar
NXN_chr17_794310_984776	806189	CTCCCCAG others(84): Show CTCCCCAGGGCTGCAGCCCCCGCCGTCTGCACCCCAGCACAACCCCCTCC CCAGGGCTGCAGCCCCCGCCGTCTGCACCCCAGCTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	242	0.0041	-91	c.821 others(107): Show c.821-1033_821-943delAGGGGGGAGCTGGGGTGCAGACGGCGGGG GCTGCAGCCCTGGGGAGGGGGTTGTGCTGGGGTGCAGACGGCGGGGGCTG CAGCCCTGGGGA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	894109	CTCCCTGG others(84): Show CTCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAA GCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02257.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0230 a0001c0001t0001g0077 a0001c0001t0001g0230	2	242	0.0083	-91	c.361 others(110): Show c.361-68122_361-68032delCGTTTGAGATGCTTCCTCTGGCTTCC AGGGCGTTTGAGATGCTTCCTCTGGCTTCCAGGGCGTTTGAGATGCTTCC TCTGGCTTCCAGGGA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	894135	CAAACGCC others(84): Show CAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGA GGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG00639.hp2 others(17): Show HG00099.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01346.hp2 HG01433.hp2 HG02683.hp2 HG03486.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 NA19004.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0002t0004	a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0116 others(17): Show a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0216 a0001c0001t0002g0031 a0001c0001t0002g0079 a0001c0001t0002g0111 a0001c0001t0002g0194 a0001c0001t0003g0020 a0001c0001t0003g0058 a0001c0001t0003g0097 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0005g0108 a0001c0001t0013g0220 a0001c0002t0004g0043	20	242	0.0826	-91	c.361 others(110): Show c.361-68148_361-68058delTGAGATGCTTCCTCTGGCTTCCAGGG CGTTTGAGATGCTTCCTCTGGCTTCCAGGGCGTTTGAGATGCTTCCTCTG GCTTCCAGGGCGTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPCML_chr11_132409981_133537501	133444887	GGTCACCA others(84): Show GGTCACCAAGAGACCACACACCATATCCATGGTGATCCTGGATGGTGGAT GGAGACCACCATACCCCATCTACACAATTTCAGGTATGAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02258.hp1 others(7): Show HG01109.hp2 HG01884.hp1 HG02258.hp1 HG02647.hp1 HG02976.hp2 HG03453.hp2 HG03516.hp1 HG04115.hp2 NA18522.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0001 a0001c0001t0003g0031 a0001c0001t0005g0038 others(7): Show a0001c0001t0001g0001 a0001c0001t0003g0031 a0001c0001t0005g0038 a0001c0001t0012g0068 a0001c0001t0013g0041 a0001c0001t0014g0017 a0001c0001t0020g0033 a0001c0001t0023g0039 a0001c0001t0026g0053 a0001c0001t0027g0055	10	68	0.1471	-91	c.61+ others(108): Show c.61+87286_61+87376delTTTTCATACCTGAAATTGTGTAGATGGG GTATGGTGGTCTCCATCCACCATCCAGGATCACCATGGATATGGTGTGTG GTCTCTTGGTGAC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133444948	TACCCCAT others(84): Show TACCCCATCTACACAATTTCAGGTATGAAAAGTCACCAAGAGACCACAGA CCATATCCATGGTGATCCTGGATGGTGGATGGAGACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03209.hp2 NA18906.hp2 HG01978.hp1 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0028 a0001c0001t0002g0019 a0001c0001t0012g0063 a0001c0001t0001g0028 a0001c0001t0002g0019 a0001c0001t0012g0063	3	68	0.0441	-91	c.61+ others(108): Show c.61+87225_61+87315delGTGGTGGTCTCCATCCACCATCCAGGAT CACCATGGATATGGTCTGTGGTCTCTTGGTGACTTTTCATACCTGAAATT GTGTAGATGGGGT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR1N1_chr9_122521358_122532293	122532018	GGGGCCTG others(84): Show GGGGCCTGAATAATCCCTGGGAAGTAGTAGAATAGCAAATTTGCCAGTCC TGGGTGGGAGCAAATCCCTGAGCTTGATGTGTAGGGAAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0000 a0003c0003t0000g0000	1	452	0.0022	-91	c.-48 others(102): Show c.-4816_-4726delTGCCTTCCCTACACATCAAGCTCAGGGATTTGCT CCCACCCAGGACTGGCAAATTTGCTATTCTACTACTTCCCAGGGATTATT CAGGCCC	OR1N1	ENSG00000171505.6	transcript	ENST00000304880.2	protein_coding		4726		chr9	TogoVar
OR2AJ1_chr1_247919889_247940339	247937455	CCTCCTCC others(84): Show CCTCCTCCCCTCCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCT CCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01884.hp2 HG01891.hp2 others(7): Show HG01516.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02886.hp1 HG03486.hp2 HG03579.hp1 NA18943.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0061 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0061 a0001c0001t0002g0096 a0001c0001t0005g0016 a0001c0001t0005g0076 a0001c0001t0009g0038	10	432	0.0232	-91	c.27 others(102): Show c.2701_*2791delCTCCTCCCCTCCCATCAGCAGCTCAGGGATGGGG CTGGCTCTGGGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTT CAGGGGA	OR2AJ1	ENSG00000177275.4	transcript	ENST00000318244.4	protein_coding		2117		chr1	TogoVar
OTOGL_chr12_80094537_80385880	80307380	GCGGCCGG others(84): Show GCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCAGA CGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGTGGC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02280.hp1 HG02451.hp2 others(1): Show HG01261.hp1 HG02280.hp1 HG02451.hp2 HG02976.hp2	a0003 a0005 a0013 a0003 a0005 a0013	a0003c0008 a0005c0016 a0013c0015 a0003c0008 a0005c0016 a0013c0015	a0003c0008t0005 a0005c0016t0003 a0013c0015t0005 a0003c0008t0005 a0005c0016t0003 a0013c0015t0005	a0003c0008t0005g0077 a0005c0016t0003g0142 a0013c0015t0005g0130 others(1): Show a0003c0008t0005g0077 a0005c0016t0003g0142 a0013c0015t0005g0130 a0013c0015t0005g0131	4	168	0.0238	-91	c.333 others(110): Show c.3333+1686_3333+1776delCGGCCGGGCAGAGGCACCCCTCACCT CCCGGACGGGGCGGCTGGCCAGACGGGGGGCTGACCCCCCCCACCTCCCT CCTGGACGGGGTGGC	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	29/58			chr12	TogoVar
OXSR1_chr3_38160537_38260484	38161552	TTCATATA others(84): Show TTCATATATTATGTATATTTCATATACATGTCATATATTATGTATATTTC ATATACATATGTCATATATTATGTATATTTCATATACATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0199 a0002c0002t0017g0199	1	248	0.0040	-91	c.-43 others(102): Show c.-4324_-4234delTCATATATTATGTATATTTCATATACATGTCATA TATTATGTATATTTCATATACATATGTCATATATTATGTATATTTCATAT ACATATG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3984		chr3	TogoVar
PABPC1L_chr20_44905060_44944316	44931136	TGAGCAAT others(84): Show TGAGCAATGGCGTGATCATGGCTCCTTCCTTCTTCCCTCCCTTCCTCCCT TCCTCCCTTCCTTCACGGGGTCTCCATGTCACCCAGGCTGGA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	396	0.0025	-91	c.123 others(108): Show c.1239+421_1239+511delGTGATCATGGCTCCTTCCTTCTTCCCTC CCTTCCTCCCTTCCTCCCTTCCTTCACGGGGTCTCCATGTCACCCAGGCT GGAGAGCAATGGC	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PAQR5_chr15_69293912_69412780	69383327	CGGGCCCT others(84): Show CGGGCCCTCCGTGCTCATGGTGGAGGGTGAGTGGGCCTTTGTGTACATGG TGGAGGGTGACTGGCCCTCTGTGTTCATCGTGGAGGGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp1 HG02922.hp2 others(4): Show HG01496.hp1 HG02572.hp1 HG02922.hp2 HG03130.hp2 HG03486.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0240 a0001c0001t0001g0241	7	284	0.0247	-91	c.180 others(108): Show c.180-1319_180-1229delTGGGCCTTTGTGTACATGGTGGAGGGTG ACTGGCCCTCTGTGTTCATCGTGGAGGGTGAGTGGGCCCTCCGTGCTCAT GGTGGAGGGTGAG	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69383905	GCCTTTGT others(84): Show GCCTTTGTGTTCATGGTGGAGGGTGAGTGGGCCTTTGTGTTCATGGTGGA GGGTGAGTGGCCCTCTGTGTTCATCGTGGAGGGTGAGCGGGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	284	0.0035	-91	c.180 others(106): Show c.180-768_180-678delTTGTGTTCATGGTGGAGGGTGAGTGGGCCT TTGTGTTCATGGTGGAGGGTGAGTGGCCCTCTGTGTTCATCGTGGAGGGT GAGCGGGCCCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PCLO_chr7_82749012_83167884	82999596	TATAATAT others(84): Show TATAATATTATATATAAAATATAAAATATAATATTATATTAAAATATAAA ATATAATATTATATATAAAATATAAAATATATTATATATAAA	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0106 a0004c0002t0001g0106	1	188	0.0053	-91	c.330 others(112): Show c.3301-33200_3301-33110delTTTATATATAATATATTTTATATT TTATATATAATATTATATTTTATATTTTAATATAATATTATATTTTATAT TTTATATATAATATTAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PDCD6_chr5_266646_319974	307235	TGTGCTCG others(84): Show TGTGCTCGGCGTGTGTGTGCTCGGCGTGTGTGTGCACACGTGTGCCGTGC GCCTCAGAAGGGGCGTTAGGCAGAACGCGTGCCCATTCTCAG	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	360	0.0028	-91	c.367 others(106): Show c.367+479_367+569delCTCGGCGTGTGTGTGCTCGGCGTGTGTGTG CACACGTGTGCCGTGCGCCTCAGAAGGGGCGTTAGGCAGAACGCGTGCCC ATTCTCAGGTG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	307246	TGTGTGTG others(84): Show TGTGTGTGCTCGGCGTGTGTGTGCACACGTGTGCCGTGCGCCTCAGAAGG GGCGTTAGGCAGAACGCGTGCCCATTCTCAGGTGTGCTCGGC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	360	0.0028	-91	c.367 others(106): Show c.367+494_367+584delCTCGGCGTGTGTGTGCACACGTGTGCCGTG CGCCTCAGAAGGGGCGTTAGGCAGAACGCGTGCCCATTCTCAGGTGTGCT CGGCGTGTGTG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PERP_chr6_138083505_138112419	138104867	AAGGCCTT others(84): Show AAGGCCTTACTAAGGCTATCTGAAAATCCAGAGTTCATAGATGCCTAGAT AATCGCCTTACAGTGTCGTTATACACAGCTTCTACAATTGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02615.hp1 others(2): Show HG02257.hp2 HG02572.hp1 HG02615.hp1 NA18906.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0059 a0001c0001t0060 a0001c0001t0091 others(2): Show a0001c0001t0059 a0001c0001t0060 a0001c0001t0091 a0002c0002t0030 a0002c0002t0031	a0001c0001t0059g0062 a0001c0001t0060g0066 a0001c0001t0091g0065 others(2): Show a0001c0001t0059g0062 a0001c0001t0060g0066 a0001c0001t0091g0065 a0002c0002t0030g0064 a0002c0002t0031g0067	5	430	0.0116	-91	c.214 others(108): Show c.214+2169_214+2259delCACAATTGTAGAAGCTGTGTATAACGAC ACTGTAAGGCGATTATCTAGGCATCTATGAACTCTGGATTTTCAGATAGC CTTAGTAAGGCCT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding	1/2			chr6	TogoVar
PFKFB4_chr3_48512684_48561803	48561633	ATCCCATC others(84): Show ATCCCATCCTTCAGTCGCTTTGTGTTTATTGAGCACCTCCTGCTGCAGGA CCTCCATGTCTGCTACATACACAATGCTCACAGGCTTGCTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(44): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00609.hp2 HG01074.hp2 HG01884.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02129.hp1 HG02155.hp1 HG02300.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03834.hp2 HG04184.hp1 NA18747.hp1 NA18940.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18954.hp1 NA18963.hp1 NA18979.hp1 NA19000.hp2 NA19003.hp2 NA19012.hp2 NA19057.hp1 NA19065.hp1 NA19070.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp2 NA19090.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0057 others(36): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0002g0001 a0001c0001t0002g0076 a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0132 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0150 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0004t0003g0054	47	246	0.1911	-91	c.-49 others(102): Show c.-4947_-4857delCCAGCAAGCCTGTGAGCATTGTGTATGTAGCAGA CATGGAGGTCCTGCAGCAGGAGGTGCTCAATAAACACAAAGCGACTGAAG GATGGGA	PFKFB4	ENSG00000114268.12	transcript	ENST00000232375.8	protein_coding		4831		chr3	TogoVar
PFKFB4_chr3_48512684_48561803	48561698	CATACACA others(84): Show CATACACAATGCTCACAGGCTTGCTGGTCCCATCCTTCAGTCGCTTTGTG TTTATTGAGCACCTCCTGCTGCAGGACCTCCATGTCTGCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG03098.hp2 others(1): Show HG02647.hp2 HG02723.hp1 HG03098.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0092 a0001c0001t0004g0031 a0001c0001t0001g0005 a0001c0001t0001g0092 a0001c0001t0004g0031	4	246	0.0163	-91	c.-50 others(102): Show c.-5012_-4922delATAGCAGACATGGAGGTCCTGCAGCAGGAGGTGC TCAATAAACACAAAGCGACTGAAGGATGGGACCAGCAAGCCTGTGAGCAT TGTGTAT	PFKFB4	ENSG00000114268.12	transcript	ENST00000232375.8	protein_coding		4896		chr3	TogoVar
PKP3_chr11_389209_409908	401382	GGCCCCGC others(84): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01515.hp2 HG02258.hp2 others(5): Show HG00544.hp2 HG01515.hp2 HG02258.hp2 NA18947.hp1 NA18950.hp1 NA18980.hp1 NA18980.hp2 NA19011.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0009c0023	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0009c0023t0002	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0085 a0001c0005t0001g0029 a0001c0009t0001g0138 a0009c0023t0002g0052	8	216	0.0370	-91	c.173 others(108): Show c.1737+689_1737+779delACCCGCCCCGCTCACACCCGGCCCCGCT CACACCCGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACAC CCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401750	CCCCCGCC others(84): Show CCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGC TCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	216	0.0046	-91	c.173 others(110): Show c.1737+1051_1737+1141delCCCCGCTCACCCCCGCCCCGCTCACC CCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCG GCTCCACTGACCCCG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402532	CCCCGACC others(84): Show CCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCCCCG CTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02622.hp2 others(2): Show HG02258.hp1 HG02486.hp1 HG02622.hp2 NA18966.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0011 others(1): Show a0001c0001 a0001c0005 a0001c0011 a0001c0021	a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 a0001c0021t0001	a0001c0001t0001g0067 a0001c0005t0001g0019 a0001c0005t0001g0025 others(2): Show a0001c0001t0001g0067 a0001c0005t0001g0019 a0001c0005t0001g0025 a0001c0011t0001g0051 a0001c0021t0001g0086	5	216	0.0232	-91	c.173 others(108): Show c.1738-542_1738-452delGACCCCGCTCACCCCCGACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCG GCCCCGCTCACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4D_chr15_42062009_42099562	42066246	GAGGTGTG others(84): Show GAGGTGTGGCTGTCAGAAGCTCCAGTCCTGGATTTGCCACCTTTGAGGTT AGCAAGTTACTTAATCCCTGTGGACGCCTACCAGCCAGAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	432	0.0023	-91	c.23 others(102): Show c.2378_*2468delGCCTCTGGCTGGTAGGCGTCCACAGGGATTAAGT AACTTGCTAACCTCAAAGGTGGCAAATCCAGGACTGGAGCTTCTGACAGC CACACCT	PLA2G4D	ENSG00000159337.7	transcript	ENST00000290472.4	protein_coding		762		chr15	TogoVar
PLAAT1_chr3_193236222_193275855	193244170	TGATGAAT others(84): Show TGATGAATAAAGCTGCTATAAGCTTTTGTGTGCAGGTTTTTGGGTGGCTA TAAATCTTCATTGTCTTTATTCTCAGGGGTAAATGCCTAGAA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0066 a0003c0005t0001g0066	1	398	0.0025	-91	c.-1+ others(106): Show c.-1+2639_-1+2729delATGAATAAAGCTGCTATAAGCTTTTGTGTG CAGGTTTTTGGGTGGCTATAAATCTTCATTGTCTTTATTCTCAGGGGTAA ATGCCTAGAAG	PLAAT1	ENSG00000127252.7	transcript	ENST00000264735.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCXD1_chrX_276381_308356	287540	TTATATAT others(84): Show TTATATATAGATATAGATACTATATATGTTTATATATAGATATAGATACT ATATATGTTTATATATAGATATAGATACTATATATGTTTATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02615.hp1 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0088 a0001c0003t0053 a0001c0003t0088	a0001c0003t0053g0162 a0001c0003t0088g0152 a0001c0003t0053g0162 a0001c0003t0088g0152	2	176	0.0114	-91	c.128 others(108): Show c.128-1188_128-1098delTATAGATATAGATACTATATATGTTTAT ATATAGATATAGATACTATATATGTTTATATATAGATATAGATACTATAT ATGTTTATATATA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLR2D_chr2_127838553_127863155	127848909	CTCAACCT others(84): Show CTCAACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGC CCTGCATTTTTTCATTTACTGTCTTCATGTTTTCTAATGGTA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	358	0.0028	-91	c.351 others(106): Show c.351-815_351-725delTACCATTAGAAAACATGAAGACAGTAAATG AAAAAATGCAGGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTT TGGGAGGTTGA	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	3/3			chr2	TogoVar
POTEG_chr14_19397486_19439341	19434934	CGCGCGTG others(84): Show CGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGG CGTGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02145.hp1 HG03017.hp1 others(3): Show HG02080.hp2 HG02145.hp1 HG03017.hp1 HG03491.hp1 HG03704.hp1 NA19054.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0036	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0036c0030	a0001c0001t0001 a0002c0002t0021 a0003c0003t0004 others(2): Show a0001c0001t0001 a0002c0002t0021 a0003c0003t0004 a0003c0003t0016 a0036c0030t0004	a0001c0001t0001g0072 a0002c0002t0021g0091 a0003c0003t0004g0044 others(3): Show a0001c0001t0001g0072 a0002c0002t0021g0091 a0003c0003t0004g0044 a0003c0003t0004g0047 a0003c0003t0016g0043 a0036c0030t0004g0097	6	111	0.0541	-91	c.-73 others(100): Show c.-736_-646delACGCCGCACGCGCACGCCGCACGCGCACGCCGCACG CGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCA CGCGC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		594		chr14	TogoVar
PPP1R15B_chr1_204398381_204416817	204409124	CAGGACCT others(84): Show CAGGACCTTTTCAATCTCTAGAAAAATTAAATCGTGTACACACAAAGTTT AATAGTCCGTTAAAAAGTGTGAAAAATTGAAGCTTGTAAGGA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	394	0.0025	-91	c.192 others(108): Show c.1920+277_1920+367delTCCTTACAAGCTTCAATTTTTCACACTT TTTAACGGACTATTAAACTTTGTGTGTACACGATTTAATTTTTCTAGAGA TTGAAAAGGTCCT	PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding	1/1			chr1	TogoVar

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Search Results (Total: 10000 hits)