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
MYO16_chr13_108624611_109213005	108636350	TTTTTTTT others(32): Show TTTTTTTTTTTTTTTTTTTTTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0033 a0001c0002t0004g0033	1	152	0.0066	-39	c.28+ others(54): Show c.28+6480_28+6518delTTTTTTTTTTTTTTTTTTTGTGTGTGTGTG TGTGTGTGT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1F_chr19_8515778_8582442	8543876	CTGGTGGT others(32): Show CTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02523.hp1 NA18747.hp1 HG02300.hp2 HG02523.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0068 a0001c0001t0003g0187 a0001c0001t0003g0295 a0001c0001t0001g0068 a0001c0001t0003g0187 a0001c0001t0003g0295	3	342	0.0088	-39	c.152 others(56): Show c.1524+382_1524+420delCCACCACCACCACCACCAGCACCACCAC CACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYOM2_chr8_2040046_2150456	2041510	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01168.hp2 others(16): Show HG00639.hp1 HG01070.hp2 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01496.hp1 HG02109.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG03130.hp2 HG03225.hp1 HG03490.hp1 HG03540.hp1 NA19043.hp1 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0012 a0015 a0034 a0037 a0038 a0075	a0001c0003 a0001c0022 a0001c0023 others(14): Show a0001c0003 a0001c0022 a0001c0023 a0002c0006 a0002c0037 a0002c0041 a0002c0129 a0002c0147 a0003c0001 a0004c0049 a0004c0158 a0012c0011 a0015c0197 a0034c0127 a0037c0134 a0038c0131 a0075c0099	a0001c0003t0001 a0001c0022t0001 a0001c0023t0001 others(14): Show a0001c0003t0001 a0001c0022t0001 a0001c0023t0001 a0002c0006t0001 a0002c0037t0001 a0002c0041t0001 a0002c0129t0001 a0002c0147t0002 a0003c0001t0001 a0004c0049t0001 a0004c0158t0002 a0012c0011t0001 a0015c0197t0001 a0034c0127t0001 a0037c0134t0001 a0038c0131t0001 a0075c0099t0001	a0001c0003t0001g0046 a0001c0022t0001g0396 a0001c0023t0001g0391 others(15): Show a0001c0003t0001g0046 a0001c0022t0001g0396 a0001c0023t0001g0391 a0002c0006t0001g0395 a0002c0037t0001g0047 a0002c0041t0001g0394 a0002c0129t0001g0393 a0002c0147t0002g0392 a0003c0001t0001g0379 a0004c0049t0001g0141 a0004c0049t0001g0378 a0004c0158t0002g0380 a0012c0011t0001g0003 a0015c0197t0001g0051 a0034c0127t0001g0398 a0037c0134t0001g0048 a0038c0131t0001g0045 a0075c0099t0001g0397	19	403	0.0472	-39	c.-36 others(50): Show c.-3670_-3632delAATATATATATATATATATATATATATATATATA TATAT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding		3535		chr8	TogoVar
MYT1_chr20_64159452_64247253	64238378	TGTCTCTA others(32): Show TGTCTCTACTGGCAAACAGGCTCATGTTGACTCTGCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02129.hp1 HG02717.hp1 HG02040.hp2 HG02129.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0022 a0001c0001t0013g0157 a0001c0001t0013g0011 a0001c0001t0013g0022 a0001c0001t0013g0157	3	223	0.0135	-39	c.309 others(58): Show c.3093+1051_3093+1089delTGTTGACTCTGCTCTGGTCTCTACTG GCAAACAGGCTCA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAALAD2_chr11_90129663_90197894	90155043	GTATATAT others(32): Show GTATATATTATATACATATACATATGTATATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0281 a0004c0005t0004g0281	1	364	0.0028	-39	c.796 others(56): Show c.796+2574_796+2612delATATACATATGTATATATGTGTGTATAT ATATTATATAC	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALAD2_chr11_90129663_90197894	90155877	GTATATGT others(32): Show GTATATGTAATATATATTATATATTATATAATATGTAATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0338 a0001c0006t0005g0338	1	364	0.0028	-39	c.797 others(56): Show c.797-2257_797-2219delATATATTATATATTATATAATATGTAAT ATATATGTAAT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	174962373	TATATATA others(32): Show TATATATATATATATATATATATGTCATAGTGACTATGAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02922.hp1 others(1): Show HG02451.hp2 HG02615.hp2 HG02922.hp1 HG02965.hp2	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0001 a0001c0013 a0009c0023 others(1): Show a0001c0001 a0001c0013 a0009c0023 a0011c0021	a0001c0001t0035 a0001c0013t0007 a0009c0023t0001 others(1): Show a0001c0001t0035 a0001c0013t0007 a0009c0023t0001 a0011c0021t0003	a0001c0001t0035g0027 a0001c0013t0007g0021 a0009c0023t0001g0037 others(1): Show a0001c0001t0035g0027 a0001c0013t0007g0021 a0009c0023t0001g0037 a0011c0021t0003g0042	4	64	0.0625	-39	c.43+ others(58): Show c.43+102944_43+102982delATGTCATAGTGACTATGACATATATA TATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175199830	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0038 a0003c0007t0038	a0003c0007t0038g0063 a0003c0007t0038g0063	1	64	0.0156	-39	c.546 others(58): Show c.546-34099_546-34061delATATATATATATATATATATATATAT ATATATATTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACAD_chr7_45075437_45093969	45078777	GGCGGTGA others(32): Show GGCGGTGAGGGGACACCAGAGAGTAATGGGACATCAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00673.hp1 others(40): Show HG00438.hp2 HG00558.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG01981.hp2 HG02071.hp1 HG02129.hp2 HG02145.hp2 HG02735.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18943.hp1 NA18950.hp2 NA18953.hp1 NA18963.hp1 NA18970.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19064.hp1 NA19075.hp1 NA19079.hp1 NA19082.hp2 NA19083.hp2	a0002 a0056 a0060 others(1): Show a0002 a0056 a0060 a0061	a0002c0002 a0002c0016 a0056c0044 others(2): Show a0002c0002 a0002c0016 a0056c0044 a0060c0047 a0061c0048	a0002c0002t0001 a0002c0016t0001 a0056c0044t0001 others(2): Show a0002c0002t0001 a0002c0016t0001 a0056c0044t0001 a0060c0047t0001 a0061c0048t0001	a0002c0002t0001g0002 a0002c0002t0001g0017 a0002c0002t0001g0033 others(4): Show a0002c0002t0001g0002 a0002c0002t0001g0017 a0002c0002t0001g0033 a0002c0016t0001g0016 a0056c0044t0001g0034 a0060c0047t0001g0035 a0061c0048t0001g0036	43	410	0.1049	-39	c.16 others(50): Show c.1693_*1731delTTTCTGATGTCCCATTACTCTCTGGTGTCCCCTC ACCGC	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding		1659		chr7	TogoVar
NADSYN1_chr11_71448203_71506816	71502359	GGCACTCG others(32): Show GGCACTCGGCAGGTGCTGTCTGGATAGTAGAAAGTGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	354	0.0028	-39	c.10 others(50): Show c.1008_*1046delGCACTCGGCAGGTGCTGTCTGGATAGTAGAAAGT GGGGA	NADSYN1	ENSG00000172890.13	transcript	ENST00000319023.7	protein_coding		544		chr11	TogoVar
NAGK_chr2_71063648_71084808	71081011	ATTATTTT others(32): Show ATTATTTTATTTTATTTTATTTTATTTATTTTATTTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03486.hp2 HG02895.hp1 HG02897.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0023 a0001c0001t0010g0023	3	442	0.0068	-39	c.25 others(50): Show c.2504_*2542delTTATTTTATTTTATTTTATTTTATTTATTTTATT TTATT	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1204		chr2	TogoVar
NALCN_chr13_101048776_101421508	101067255	TGGAAGAG others(32): Show TGGAAGAGGAGGTGGACGAGGAGGAGGGGGAAGAGGAGGG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	176	0.0057	-39	c.444 others(56): Show c.4446+624_4446+662delCCCTCCTCTTCCCCCTCCTCCTCGTCCA CCTCCTCTTCC	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	39/43			chr13	TogoVar
NAV3_chr12_77825894_78218010	78162882	AATATATA others(32): Show AATATATATAATATATATATAAATATATATATTATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01081.hp2 others(4): Show HG00280.hp2 HG00621.hp1 HG01081.hp2 HG02080.hp1 NA18962.hp2 NA18979.hp1 NA19001.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0018 a0001c0020 a0001c0053 others(3): Show a0001c0018 a0001c0020 a0001c0053 a0001c0054 a0002c0025 a0011c0040	a0001c0018t0011 a0001c0020t0002 a0001c0020t0011 others(4): Show a0001c0018t0011 a0001c0020t0002 a0001c0020t0011 a0001c0053t0074 a0001c0054t0002 a0002c0025t0048 a0011c0040t0005	a0001c0018t0011g0142 a0001c0020t0002g0099 a0001c0020t0011g0070 others(4): Show a0001c0018t0011g0142 a0001c0020t0002g0099 a0001c0020t0011g0070 a0001c0053t0074g0113 a0001c0054t0002g0138 a0002c0025t0048g0022 a0011c0040t0005g0049	7	186	0.0376	-39	c.486 others(58): Show c.4869+3607_4869+3645delTATATATATAAATATATATATTATAT AATATATATATAA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	23/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NBPF15_chr1_144416390_144466669	144430786	GGAGGATG others(32): Show GGAGGATGTGCGAACTCATCTCAAGGAAGCTAAAAACCTT	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01884.hp1 HG02145.hp2 others(5): Show HG01516.hp1 HG01884.hp1 HG02145.hp2 HG02886.hp2 HG02965.hp2 HG03239.hp1 HG04228.hp1 NA18522.hp2	a0008 a0009 a0015 others(1): Show a0008 a0009 a0015 a0024	a0008c0013 a0008c0031 a0009c0008 others(2): Show a0008c0013 a0008c0031 a0009c0008 a0015c0039 a0024c0035	a0008c0013t0004 a0008c0031t0004 a0009c0008t0004 others(3): Show a0008c0013t0004 a0008c0031t0004 a0009c0008t0004 a0009c0008t0014 a0015c0039t0004 a0024c0035t0004	a0008c0013t0004g0026 a0008c0013t0004g0031 a0008c0031t0004g0027 others(5): Show a0008c0013t0004g0026 a0008c0013t0004g0031 a0008c0031t0004g0027 a0009c0008t0004g0028 a0009c0008t0004g0029 a0009c0008t0014g0025 a0015c0039t0004g0032 a0024c0035t0004g0030	8	394	0.0203	-39	c.825 others(54): Show c.825-962_825-924delAAGGTTTTTAGCTTCCTTGAGATGAGTTCG CACATCCTC	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding	13/21			chr1	TogoVar
NCOA6_chr20_34709774_34830651	34817170	AATGGGTA others(32): Show AATGGGTACTACGGAACTGATATTCAACAGATTCAATATC	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA19088.hp1 NA18997.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0114 a0001c0001t0001g0115	2	290	0.0069	-39	c.-16 others(58): Show c.-164+8263_-164+8301delGATATTGAATCTGTTGAATATCAGTT CCGTAGTACCCAT	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NDUFA5_chr7_123531997_123562818	123558082	TTGAGGGA others(32): Show TTGAGGGAAACACTCCCAACTACCAAAAAACTCCAGTCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0246 a0001c0001t0014g0246	1	414	0.0024	-39	c.-32 others(48): Show c.-326_-288delGCGACTGGAGTTTTTTGGTAGTTGGGAGTGTTTCCC TCA	NDUFA5	ENSG00000128609.16	transcript	ENST00000355749.7	protein_coding		265		chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42917170	TCAGGCGT others(32): Show TCAGGCGTGACATAGGGGTGGCGTGGGCACCTTGGAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0048 a0003c0004t0048	a0003c0004t0048g0198 a0003c0004t0048g0198	1	348	0.0029	-39	c.81 others(50): Show c.8150_*8188delCAGGCGTGACATAGGGGTGGCGTGGGCACCTTGG AAAAA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding		3872		chr21	TogoVar
NEK6_chr9_124252949_124358307	124272823	CATTTGCT others(32): Show CATTTGCTGAGGAGCACAGTGTGCCCACTGCCAAGTCAGG	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	368	0.0027	-39	c.-30 others(58): Show c.-30+14744_-30+14782delCTGAGGAGCACAGTGTGCCCACTGCC AAGTCAGGATTTG	NEK6	ENSG00000119408.17	transcript	ENST00000320246.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
NELL1_chr11_20664586_21580686	21309273	TATATATG others(32): Show TATATATGTATATATATATATATATATGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG03225.hp1 HG02970.hp1 HG03130.hp1 HG03225.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0007c0016 a0001c0001 a0001c0006 a0007c0016	a0001c0001t0001 a0001c0006t0007 a0007c0016t0002 a0001c0001t0001 a0001c0006t0007 a0007c0016t0002	a0001c0001t0001g0042 a0001c0006t0007g0014 a0007c0016t0002g0033 a0001c0001t0001g0042 a0001c0006t0007g0014 a0007c0016t0002g0033	3	88	0.0341	-39	c.155 others(60): Show c.1550-61573_1550-61535delGTATATATATATATATATATGTAT ATATATATAATATAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEMF_chr14_49777083_49857788	49802299	AAAAAAAA others(32): Show AAAAAAAAATTCAGTAAAACAGCACGTACTTTGGGTTTTC	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	222	0.0045	-39	c.209 others(56): Show c.2095+115_2095+153delGAAAACCCAAAGTACGTGCTGTTTTACT GAATTTTTTTT	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	22/32			chr14	TogoVar
NEU4_chr2_241804193_241822413	241805223	ACCCAGGG others(32): Show ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0126 a0002c0003t0002g0126	1	319	0.0031	-39	c.-40 others(50): Show c.-4054_-4016delCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3969		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806424	TCCCCCTC others(32): Show TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0162 a0002c0003t0002g0162	1	319	0.0031	-39	c.-28 others(50): Show c.-2853_-2815delCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2768		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807368	CCAGCTTC others(32): Show CCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01257.hp1 HG02683.hp1 others(6): Show HG00673.hp1 HG01257.hp1 HG02683.hp1 HG03516.hp2 HG04228.hp2 NA19057.hp2 NA19064.hp1 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0004t0010 a0002c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0003g0081 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0003g0081 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0004t0001g0011 a0001c0004t0010g0104 a0002c0003t0002g0007 a0002c0003t0002g0045	9	319	0.0282	-39	c.-19 others(50): Show c.-1909_-1871delCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGG AAGAG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1824		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807528	CTCCCTCC others(32): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	319	0.0031	-39	c.-17 others(50): Show c.-1749_-1711delTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1664		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807556	CGCAGGCC others(32): Show CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-39	c.-17 others(50): Show c.-1721_-1683delGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1636		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807681	CGCAGGCC others(32): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	319	0.0031	-39	c.-15 others(50): Show c.-1596_-1558delGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1511		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807931	TCCCTCCC others(32): Show TCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01081.hp2 HG01099.hp2 others(8): Show HG00621.hp1 HG01081.hp2 HG01099.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG02080.hp2 HG02132.hp1 HG02148.hp1 HG02738.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0004t0001 a0002c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0137 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0137 a0001c0001t0005g0018 a0001c0001t0008g0001 a0001c0002t0001g0014 a0001c0004t0001g0005 a0002c0003t0003g0106	11	319	0.0345	-39	c.-13 others(50): Show c.-1346_-1308delCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1261		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807973	CTCCCTCC others(32): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01346.hp2 others(1): Show HG00558.hp2 HG00639.hp1 HG01346.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0033	4	319	0.0125	-39	c.-13 others(50): Show c.-1304_-1266delTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1219		chr2	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02145.hp2 HG03471.hp2 HG00639.hp1 HG02145.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0012 a0001c0001t0001 a0001c0009t0012	a0001c0001t0001g0029 a0001c0001t0001g0205 a0001c0009t0012g0165 a0001c0001t0001g0029 a0001c0001t0001g0205 a0001c0009t0012g0165	3	268	0.0112	-39	c.-89 others(48): Show c.-899_-861delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NEXN_chr1_77883624_77948895	77898075	GCCATACT others(32): Show GCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	268	0.0037	-39	c.-53 others(56): Show c.-53+9321_-53+9359delACTGCCCAAGGTAATTTATAGATTCAAT GCCATCCCCAT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEXN_chr1_77883624_77948895	77933910	ACTGCAGC others(32): Show ACTGCAGCCTCAACCTCCCATGCTCAAGTGATCCTCATGT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	268	0.0037	-39	c.125 others(56): Show c.1251+434_1251+472delGCAGCCTCAACCTCCCATGCTCAAGTGA TCCTCATGTCT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFE2L3_chr7_26147198_26192137	26176474	GGCCGGGC others(32): Show GGCCGGGCAGAGGCGCTCCTCACATCCCAGACGATGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(106): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0008 a0013 others(1): Show a0001 a0008 a0013 a0015	a0001c0001 a0001c0002 a0008c0010 others(2): Show a0001c0001 a0001c0002 a0008c0010 a0013c0016 a0015c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0023 a0008c0010t0002 a0013c0016t0004 a0015c0017t0001	a0001c0001t0001g0209 a0001c0002t0001g0019 a0001c0002t0001g0056 others(67): Show a0001c0001t0001g0209 a0001c0002t0001g0019 a0001c0002t0001g0056 a0001c0002t0001g0078 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0112 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0156 a0001c0002t0001g0246 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0027 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0057 a0001c0002t0002g0132 a0001c0002t0002g0187 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0266 a0001c0002t0004g0002 a0001c0002t0004g0080 a0001c0002t0004g0093 a0001c0002t0004g0129 a0001c0002t0004g0172 a0001c0002t0004g0237 a0001c0002t0007g0002 a0001c0002t0007g0033 a0001c0002t0007g0227 a0001c0002t0010g0002 a0001c0002t0010g0137 a0001c0002t0017g0254 a0001c0002t0023g0002 a0008c0010t0002g0042 a0013c0016t0004g0118 a0015c0017t0001g0088	109	400	0.2725	-39	c.571 others(56): Show c.571-1436_571-1398delATGGGCAGCCGGGCAGAGGCGCTCCTCA CATCCCAGACG	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NFE2L3_chr7_26147198_26192137	26176704	AGGCAGAG others(32): Show AGGCAGAGGCGCTCCTCACATCCCAGACGATGGGCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0088 a0015c0017t0001g0088	1	400	0.0025	-39	c.571 others(56): Show c.571-1220_571-1182delATCCCAGACGATGGGCAGCCGGGCAGAG GCGCTCCTCAC	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NGB_chr14_77260483_77276206	77269688	CTCTCTCT others(32): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18975.hp2 NA19082.hp2 NA18953.hp2 NA18975.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0198 a0001c0001t0001g0216 a0001c0001t0001g0232	3	366	0.0082	-39	c.90- others(52): Show c.90-401_90-363delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18940.hp2 NA19006.hp1 HG04199.hp1 NA18940.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0129 a0001c0001t0001g0190 a0001c0001t0001g0192	3	264	0.0114	-39	c.492 others(56): Show c.492+3167_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NIBAN2_chr9_127500343_127574073	127523189	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	332	0.0030	-39	c.589 others(54): Show c.589+451_589+489delATATATATATATATATATATATATATATAT ATATATTTT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIM1K_chr5_43187225_43285850	43213178	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	292	0.0034	-39	c.-69 others(60): Show c.-695+20770_-695+20808delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINL_chr20_25447697_25590531	25508671	GGGGCGCT others(32): Show GGGGCGCTGGCAGCCTGAAGAGGGCTCTCGGCATTCAGCC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	310	0.0032	-39	c.517 others(56): Show c.517+1964_517+2002delGGCTGAATGCCGAGAGCCCTCTTCAGGC TGCCAGCGCCC	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	5/23			chr20	TogoVar
NKAIN3_chr8_62243854_62989904	62849248	TTCTGTAC others(32): Show TTCTGTACCTCTGCTAGAATTCAGATGTGAATTCATCTGG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0077	a0001c0002t0077g0109 a0001c0002t0077g0109	1	144	0.0069	-39	c.472 others(58): Show c.472-69202_472-69164delTGTACCTCTGCTAGAATTCAGATGTG AATTCATCTGGTC	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAPD1_chr11_112069299_112090150	112082330	GTGTTAAA others(32): Show GTGTTAAAGTATACATTAAAGTGCTTATTTAAAATTCAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02723.hp2 others(3): Show HG02257.hp2 HG02258.hp1 HG02723.hp2 HG02976.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0009 a0001c0006t0003 a0001c0001t0003 a0001c0001t0009 a0001c0006t0003	a0001c0001t0003g0013 a0001c0001t0009g0025 a0001c0006t0003g0013 a0001c0001t0003g0013 a0001c0001t0009g0025 a0001c0006t0003g0013	6	382	0.0157	-39	c.375 others(53): Show c.375-128_375-90delAGTATACATTAAAGTGCTTATTTAAAATTCA GATGTTAA	NKAPD1	ENSG00000150776.18	transcript	ENST00000393047.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	CCTTCTTC others(32): Show CCTTCTTCTTCTTCCTCCTCCTCTTCTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01123.hp1 HG01081.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	434	0.0046	-39	c.-19 others(50): Show c.-1922_-1884delAAGAAGAAGAAGAAGAAGAGGAGGAGGAAGAAGA AGAAG	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1726		chr8	TogoVar
NLN_chr5_65717205_65834283	65794983	TTTTAATC others(32): Show TTTTAATCTCTCTTTAATCCAAGGAAAATAAATCTTTCAG	T T	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19063.hp1 NA19089.hp1 NA18992.hp1 NA19063.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0053 a0001c0001t0005g0211 a0001c0001t0005g0041 a0001c0001t0005g0053 a0001c0001t0005g0211	3	336	0.0089	-39	c.152 others(58): Show c.1527+2329_1527+2367delTTTAATCTCTCTTTAATCCAAGGAAA ATAAATCTTTCAG	NLN	ENSG00000123213.23	transcript	ENST00000380985.10	protein_coding	9/12			chr5	TogoVar
NLRP6_chr11_273407_290388	285040	AGCCCGGC others(32): Show AGCCCGGCCACCCCCACGGCACTGCCCGTCACTGCCCGCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0076 a0001c0010t0001g0076	1	446	0.0022	-39	c.253 others(55): Show c.2538-118_2538-80delCACCCCCACGGCACTGCCCGTCACTGCCC GCGGCCCGGC	NLRP6	ENSG00000174885.13	transcript	ENST00000534750.6	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
NLRP7_chr19_54918515_54952530	54937798	GAGGCAGG others(32): Show GAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0381 a0001c0002t0001g0381	1	419	0.0024	-39	c.212 others(56): Show c.2129+207_2129+245delGCATCCTCCACCTCCCAGGTTCAAGCAA TTCTCCTGCCT	NLRP7	ENSG00000167634.12	transcript	ENST00000592784.6	protein_coding	5/10			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957671	AATTATAT others(32): Show AATTATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp2 HG02293.hp2 others(6): Show HG01943.hp1 HG01993.hp2 HG02293.hp2 NA18956.hp1 NA18992.hp1 NA19056.hp1 NA19066.hp2 NA19080.hp2 NA20129.hp1	a0000 a0015 a0000 a0015	a0000c0011 a0000c0069 a0015c0070 a0000c0011 a0000c0069 a0015c0070	a0000c0011t0001 a0000c0011t0006 a0000c0069t0001 others(1): Show a0000c0011t0001 a0000c0011t0006 a0000c0069t0001 a0015c0070t0003	a0000c0011t0001g0021 a0000c0011t0006g0003 a0000c0011t0006g0017 others(4): Show a0000c0011t0001g0021 a0000c0011t0006g0003 a0000c0011t0006g0017 a0000c0011t0006g0020 a0000c0011t0006g0022 a0000c0069t0001g0018 a0015c0070t0003g0019	9	350	0.0257	-39	c.204 others(58): Show c.2042+1574_2042+1612delTATATATATATATATATATATATATA TATATATATATAT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NMNAT2_chr1_183243237_183423380	183389812	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp2 HG03239.hp1 others(1): Show HG01258.hp1 HG01258.hp2 HG03239.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0051 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0051 a0001c0001t0087	a0001c0001t0003g0030 a0001c0001t0010g0057 a0001c0001t0051g0081 others(1): Show a0001c0001t0003g0030 a0001c0001t0010g0057 a0001c0001t0051g0081 a0001c0001t0087g0038	4	258	0.0155	-39	c.85+ others(56): Show c.85+28332_85+28370delTTTTTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183389813	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	258	0.0039	-39	c.85+ others(56): Show c.85+28331_85+28369delCTTTTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMUR2_chr5_152386546_152410279	152409417	CCTCCCAA others(32): Show CCTCCCAAGTAGCTGGGACTACAGGCATGCACCACAGTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG04115.hp2 HG03490.hp2 HG03492.hp1 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0072 a0002c0003t0002g0075 a0002c0003t0002g0036 a0002c0003t0002g0072 a0002c0003t0002g0075	3	446	0.0067	-39	c.-43 others(50): Show c.-4343_-4305delTTACTGTGGTGCATGCCTGTAGTCCCAGCTACTT GGGAG	NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding		4139		chr5	TogoVar
NOC4L_chr12_132139457_132157468	132149976	CCACACCC others(32): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01433.hp2 HG01884.hp2 others(3): Show HG00738.hp2 HG01433.hp2 HG01884.hp2 HG02300.hp2 NA19080.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0258 a0001c0001t0002g0227	6	294	0.0204	-39	c.902 others(54): Show c.902-959_902-921delCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOP14_chr4_2932936_2968406	2960919	TCGATATT others(32): Show TCGATATTATTTTAATATTATATCAATATTATTATATTAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00642.hp1 others(28): Show HG00140.hp1 HG00140.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01099.hp2 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG01978.hp1 HG02132.hp2 HG02280.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18940.hp2 NA18966.hp2 NA18998.hp2 NA19009.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0015	a0001c0001 a0002c0002 a0012c0009 others(1): Show a0001c0001 a0002c0002 a0012c0009 a0015c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0002c0002t0001 a0012c0009t0001 a0015c0028t0002	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0138 others(23): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0001g0256 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0150 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0016g0214 a0001c0001t0017g0153 a0002c0002t0001g0222 a0002c0002t0001g0252 a0012c0009t0001g0137 a0012c0009t0001g0151 a0015c0028t0002g0207	31	422	0.0735	-39	c.195 others(56): Show c.195+2167_195+2205delTTAATATAATAATATTGATATAATATTA AAATAATATCG	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar

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