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
NAALADL2_chr3_174854334_175815548	174860396	TTAATTTC others(13): Show TTAATTTCAAAAGTCATGTAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0019 a0002c0005t0011g0019	1	64	0.0156	-20	c.43+ others(33): Show c.43+950_43+969delTTTCAAAAGTCATGTAATAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	174873229	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03486.hp2 HG02559.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0013 a0003c0003 a0001c0013 a0003c0003	a0001c0013t0013 a0003c0003t0002 a0001c0013t0013 a0003c0003t0002	a0001c0013t0013g0018 a0003c0003t0002g0017 a0001c0013t0013g0018 a0003c0003t0002g0017	2	64	0.0313	-20	c.43+ others(37): Show c.43+13803_43+13822delATTTATTTATTTATTTATTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	174894594	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01074.hp1 others(8): Show HG00639.hp2 HG00741.hp1 HG01074.hp1 HG01884.hp1 HG02258.hp2 HG02300.hp2 HG02717.hp2 HG02895.hp1 HG03225.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0002c0004 a0002c0005 others(5): Show a0001c0001 a0002c0004 a0002c0005 a0004c0002 a0005c0006 a0006c0009 a0008c0018 a0008c0019	a0001c0001t0002 a0002c0004t0036 a0002c0005t0005 others(8): Show a0001c0001t0002 a0002c0004t0036 a0002c0005t0005 a0002c0005t0023 a0004c0002t0021 a0004c0002t0026 a0005c0006t0018 a0006c0009t0010 a0006c0009t0025 a0008c0018t0001 a0008c0019t0017	a0001c0001t0002g0012 a0002c0004t0036g0047 a0002c0005t0005g0009 others(8): Show a0001c0001t0002g0012 a0002c0004t0036g0047 a0002c0005t0005g0009 a0002c0005t0023g0045 a0004c0002t0021g0003 a0004c0002t0026g0011 a0005c0006t0018g0013 a0006c0009t0010g0010 a0006c0009t0025g0035 a0008c0018t0001g0043 a0008c0019t0017g0004	11	64	0.1719	-20	c.43+ others(37): Show c.43+35174_43+35193delAAAAAAAAAAAAAAAAAAAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175062476	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(3): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02258.hp1 HG02559.hp2 HG03130.hp1	a0001 a0004 a0007 others(3): Show a0001 a0004 a0007 a0012 a0015 a0016	a0001c0001 a0004c0002 a0007c0014 others(3): Show a0001c0001 a0004c0002 a0007c0014 a0012c0017 a0015c0024 a0016c0015	a0001c0001t0012 a0004c0002t0008 a0007c0014t0004 others(3): Show a0001c0001t0012 a0004c0002t0008 a0007c0014t0004 a0012c0017t0007 a0015c0024t0003 a0016c0015t0002	a0001c0001t0012g0031 a0004c0002t0008g0006 a0007c0014t0004g0040 others(3): Show a0001c0001t0012g0031 a0004c0002t0008g0006 a0007c0014t0004g0040 a0012c0017t0007g0025 a0015c0024t0003g0023 a0016c0015t0002g0005	6	64	0.0938	-20	c.44- others(37): Show c.44-34284_44-34265delGTGTGTGTGTGTGTGTGTGT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175314666	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02451.hp2 NA18522.hp2 HG01255.hp1 HG02451.hp2 NA18522.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0010 a0009c0023 a0001c0001 a0006c0010 a0009c0023	a0001c0001t0002 a0006c0010t0009 a0009c0023t0001 a0001c0001t0002 a0006c0010t0009 a0009c0023t0001	a0001c0001t0002g0032 a0006c0010t0009g0054 a0009c0023t0001g0037 a0001c0001t0002g0032 a0006c0010t0009g0054 a0009c0023t0001g0037	3	64	0.0469	-20	c.940 others(37): Show c.940-9472_940-9453delTATATATATATATATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175338622	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0064 a0003c0007t0001g0064	1	64	0.0156	-20	c.109 others(41): Show c.1090+14319_1090+14338delCACACACACACACACACACA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175504565	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0002 a0013c0016t0002	a0013c0016t0002g0059 a0013c0016t0002g0059	1	64	0.0156	-20	c.165 others(41): Show c.1653+32844_1653+32863delTCTCTCTCTCTCTCTCTCTC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175591784	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(17): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01255.hp1 HG01978.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03130.hp1 HG03453.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0006 a0007	a0002c0004 a0002c0005 a0003c0003 others(7): Show a0002c0004 a0002c0005 a0003c0003 a0003c0007 a0004c0008 a0005c0006 a0005c0011 a0006c0009 a0006c0010 a0007c0014	a0002c0004t0003 a0002c0004t0033 a0002c0004t0036 others(17): Show a0002c0004t0003 a0002c0004t0033 a0002c0004t0036 a0002c0005t0032 a0003c0003t0002 a0003c0003t0004 a0003c0003t0016 a0003c0007t0001 a0003c0007t0024 a0003c0007t0038 a0004c0008t0002 a0005c0006t0001 a0005c0006t0018 a0005c0006t0020 a0005c0011t0001 a0006c0009t0009 a0006c0009t0010 a0006c0009t0025 a0006c0010t0009 a0007c0014t0004	a0002c0004t0003g0028 a0002c0004t0033g0022 a0002c0004t0036g0047 others(17): Show a0002c0004t0003g0028 a0002c0004t0033g0022 a0002c0004t0036g0047 a0002c0005t0032g0050 a0003c0003t0002g0017 a0003c0003t0004g0046 a0003c0003t0016g0060 a0003c0007t0001g0064 a0003c0007t0024g0049 a0003c0007t0038g0063 a0004c0008t0002g0062 a0005c0006t0001g0057 a0005c0006t0018g0013 a0005c0006t0020g0052 a0005c0011t0001g0053 a0006c0009t0009g0061 a0006c0009t0010g0010 a0006c0009t0025g0035 a0006c0010t0009g0054 a0007c0014t0004g0040	20	64	0.3125	-20	c.180 others(41): Show c.1800+15621_1800+15640delATATATATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175632266	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01167.hp1 others(23): Show HG00741.hp2 HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA21309.hp1	a0001 a0004 a0007 others(5): Show a0001 a0004 a0007 a0008 a0009 a0010 a0013 a0014	a0001c0001 a0001c0013 a0004c0002 others(8): Show a0001c0001 a0001c0013 a0004c0002 a0004c0008 a0007c0012 a0007c0014 a0008c0018 a0009c0023 a0010c0020 a0013c0016 a0014c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0013t0007 a0001c0013t0013 a0004c0002t0002 a0004c0002t0008 a0004c0002t0021 a0004c0002t0026 a0004c0002t0034 a0004c0008t0002 a0004c0008t0010 a0004c0008t0027 a0007c0012t0003 a0007c0012t0029 a0007c0014t0004 a0008c0018t0001 a0009c0023t0001 a0010c0020t0028 a0013c0016t0002 a0014c0022t0001	a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0003g0015 others(23): Show a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0003g0015 a0001c0001t0022g0002 a0001c0001t0030g0030 a0001c0001t0031g0026 a0001c0001t0035g0027 a0001c0001t0037g0038 a0001c0013t0007g0021 a0001c0013t0013g0018 a0004c0002t0002g0048 a0004c0002t0008g0006 a0004c0002t0021g0003 a0004c0002t0026g0011 a0004c0002t0034g0055 a0004c0008t0002g0062 a0004c0008t0010g0036 a0004c0008t0027g0051 a0007c0012t0003g0033 a0007c0012t0029g0024 a0007c0014t0004g0040 a0008c0018t0001g0043 a0009c0023t0001g0037 a0010c0020t0028g0001 a0013c0016t0002g0059 a0014c0022t0001g0034	26	64	0.4063	-20	c.189 others(39): Show c.1896+4905_1896+4924delTCTCTCTCTCTCTCTCTCTC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175730425	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01978.hp1 HG02109.hp2 others(3): Show HG00639.hp2 HG01978.hp1 HG02109.hp2 HG02809.hp2 HG02965.hp2 HG03225.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0004 a0003c0003 others(3): Show a0001c0001 a0002c0004 a0003c0003 a0005c0006 a0005c0011 a0007c0012	a0001c0001t0035 a0002c0004t0003 a0003c0003t0001 others(3): Show a0001c0001t0035 a0002c0004t0003 a0003c0003t0001 a0005c0006t0018 a0005c0011t0004 a0007c0012t0029	a0001c0001t0035g0027 a0002c0004t0003g0028 a0003c0003t0001g0056 others(3): Show a0001c0001t0035g0027 a0002c0004t0003g0028 a0003c0003t0001g0056 a0005c0006t0018g0013 a0005c0011t0004g0029 a0007c0012t0029g0024	6	64	0.0938	-20	c.189 others(39): Show c.1897-6879_1897-6860delTATATATATATATATATACA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC2_chr9_136001537_136100289	136016552	AGGTGAGG others(13): Show AGGTGAGGCCACTCTGTGCCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0079 a0001c0002t0079	a0001c0002t0079g0041 a0001c0002t0079g0041	1	348	0.0029	-20	c.887 others(35): Show c.887-143_887-124delCGGCACAGAGTGGCCTCACC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136033894	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0079 a0001c0002t0079	a0001c0002t0079g0041 a0001c0002t0079g0041	1	348	0.0029	-20	c.886 others(39): Show c.886+15722_886+15741delACACACACACACACACACAC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136062114	AGACAGGA others(13): Show AGACAGGACAGGACAGGACAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01993.hp1 others(6): Show HG00323.hp2 HG00738.hp2 HG01993.hp1 HG02155.hp1 HG02647.hp1 HG03540.hp1 NA18945.hp1 NA18950.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0001c0017	a0001c0002t0003 a0001c0002t0059 a0001c0003t0005 others(3): Show a0001c0002t0003 a0001c0002t0059 a0001c0003t0005 a0001c0003t0028 a0001c0005t0002 a0001c0017t0018	a0001c0002t0003g0126 a0001c0002t0059g0307 a0001c0003t0005g0165 others(6): Show a0001c0002t0003g0126 a0001c0002t0059g0307 a0001c0003t0005g0165 a0001c0003t0028g0104 a0001c0005t0002g0142 a0001c0005t0002g0159 a0001c0005t0002g0168 a0001c0005t0002g0194 a0001c0017t0018g0011	9	348	0.0259	-20	c.-59 others(39): Show c.-59-11554_-59-11535delCTGTCCTGTCCTGTCCTGTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NADK_chr1_1746232_1783470	1762759	AAATGAAT others(13): Show AAATGAATGAATGAATGAATG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	414	0.0024	-20	c.180 others(35): Show c.180-744_180-725delCATTCATTCATTCATTCATT	NADK	ENSG00000008130.15	transcript	ENST00000341426.9	protein_coding	2/11			chr1	TogoVar
NAGK_chr2_71063648_71084808	71081034	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02559.hp1 others(12): Show HG02145.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02735.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03927.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0061 a0001c0003t0001g0005 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0061 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0012 a0001c0003t0001g0027	15	442	0.0339	-20	c.25 others(31): Show c.2527_*2546delTTTATTTTATTTTATTTTAT	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1227		chr2	TogoVar
NAGLU_chr17_42531241_42549449	42532476	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(116): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA19000.hp2 NA19010.hp2 NA19054.hp2 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0011 a0001c0001 a0002c0002 a0004c0011	a0001c0001t0001 a0002c0002t0001 a0004c0011t0001 a0001c0001t0001 a0002c0002t0001 a0004c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0002c0002t0001g0002 a0002c0002t0001g0014 a0004c0011t0001g0066	119	422	0.2820	-20	c.-37 others(31): Show c.-3796_-3777delTATTTATTTATTTATTTATT	NAGLU	ENSG00000108784.10	transcript	ENST00000225927.7	protein_coding		3764		chr17	TogoVar
NALCN_chr13_101048776_101421508	101090093	TACACACA others(13): Show TACACACACACGTGTGCGTGC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0153	1	176	0.0057	-20	c.327 others(37): Show c.3270-147_3270-128delGCACGCACACGTGTGTGTGT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	28/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101360125	CTTTTTTC others(13): Show CTTTTTTCTTTCTTTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG01243.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0008 a0001c0001t0001 a0001c0006t0008	a0001c0001t0001g0024 a0001c0006t0008g0047 a0001c0001t0001g0024 a0001c0006t0008g0047	2	176	0.0114	-20	c.645 others(39): Show c.645-14725_645-14706delAGAGAGAAAGAAAGAAAAAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101397066	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0002 a0006c0028t0002	a0006c0028t0002g0045 a0006c0028t0002g0045	1	176	0.0057	-20	c.109 others(37): Show c.109-1721_109-1702delTATATATATATATATATATA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	2/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101400564	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCAC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0113 a0001c0001t0006g0113	1	176	0.0057	-20	c.-39 others(37): Show c.-39-1419_-39-1400delGTGCACACACACACACACAC	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	1/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107194008	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02895.hp2 others(2): Show HG02451.hp1 HG02486.hp2 HG02895.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0053 a0001c0001t0086 others(2): Show a0001c0001t0014 a0001c0001t0053 a0001c0001t0086 a0001c0002t0014 a0001c0002t0041	a0001c0001t0014g0049 a0001c0001t0053g0066 a0001c0001t0086g0117 others(2): Show a0001c0001t0014g0049 a0001c0001t0053g0066 a0001c0001t0086g0117 a0001c0002t0014g0076 a0001c0002t0041g0077	5	128	0.0391	-20	c.108 others(41): Show c.1087+16556_1087+16575delGATAGATAGATAGATAGATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	2/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107194040	CTATCTAT others(13): Show CTATCTATCTATCTATCTATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01993.hp1 others(5): Show HG00099.hp1 HG00738.hp2 HG01993.hp1 HG02622.hp1 HG02723.hp2 HG02895.hp1 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0058 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0058 a0001c0001t0071 a0001c0001t0075 a0001c0002t0034 a0001c0002t0038	a0001c0001t0001g0041 a0001c0001t0003g0100 a0001c0001t0003g0104 others(5): Show a0001c0001t0001g0041 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0058g0024 a0001c0001t0071g0051 a0001c0001t0075g0096 a0001c0002t0034g0022 a0001c0002t0038g0071	8	128	0.0625	-20	c.108 others(41): Show c.1087+16524_1087+16543delTATAGATAGATAGATAGATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	2/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107236667	GTCTGTCT others(13): Show GTCTGTCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0114 a0001c0001t0079g0114	1	128	0.0078	-20	c.916 others(39): Show c.916-25932_916-25913delTAGATAGATAGATAGACAGA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107660436	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp1 HG02559.hp1 others(6): Show HG01081.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp2 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0010 a0001c0001t0013 a0001c0001t0033 others(6): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0033 a0001c0001t0058 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0002t0072 a0001c0005t0076	a0001c0001t0010g0032 a0001c0001t0013g0068 a0001c0001t0033g0019 others(6): Show a0001c0001t0010g0032 a0001c0001t0013g0068 a0001c0001t0033g0019 a0001c0001t0058g0024 a0001c0001t0093g0094 a0001c0001t0094g0091 a0001c0001t0096g0128 a0001c0002t0072g0083 a0001c0005t0076g0106	9	128	0.0703	-20	c.915 others(41): Show c.915+205226_915+205245delGTGTGTGTGTGTGTGTGTGT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107775810	TATTATGT others(13): Show TATTATGTTCCCCACACAAAG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02280.hp2 HG02615.hp2 others(2): Show HG01433.hp2 HG02280.hp2 HG02615.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0028 others(2): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0028 a0001c0001t0062 a0001c0001t0078	a0001c0001t0006g0112 a0001c0001t0014g0049 a0001c0001t0028g0010 others(2): Show a0001c0001t0006g0112 a0001c0001t0014g0049 a0001c0001t0028g0010 a0001c0001t0062g0027 a0001c0001t0078g0092	5	128	0.0391	-20	c.915 others(39): Show c.915+89852_915+89871delCTTTGTGTGGGGAACATAAT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107778601	TTTTGTTT others(13): Show TTTTGTTTGTTTGTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0001 a0001c0002t0018g0001	1	128	0.0078	-20	c.915 others(39): Show c.915+87061_915+87080delTACAAAAACAAACAAACAAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	336	0.0030	-20	c.743 others(35): Show c.743+604_743+623delTTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOS1_chr10_119024714_119038730	119028610	AGAAGGAA others(13): Show AGAAGGAAGGAAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0000 a0001c0001t0018g0000	1	404	0.0025	-20	c.-11 others(31): Show c.-1191_-1172delGAAGGAAGGAAAGAAGGAAG	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding		1103		chr10	TogoVar
NANOS1_chr10_119024714_119038730	119028622	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02559.hp1 HG03225.hp2 others(16): Show HG02040.hp2 HG02559.hp1 HG03225.hp2 HG03927.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18961.hp1 NA18965.hp2 NA18987.hp2 NA18997.hp1 NA19011.hp2 NA19060.hp1 NA19074.hp2 NA19088.hp2	a0000 a0001 a0000 a0001	a0000c0002 a0001c0001 a0000c0002 a0001c0001	a0000c0002t0004 a0001c0001t0004 a0001c0001t0005 others(1): Show a0000c0002t0004 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011	a0000c0002t0004g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(1): Show a0000c0002t0004g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0011g0000	19	404	0.0470	-20	c.-11 others(31): Show c.-1179_-1160delGAAGGAAGGAAGGAAGGAAG	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding		1091		chr10	TogoVar
NAP1L1_chr12_76031585_76089685	76066121	TAAATAAA others(13): Show TAAATAAATAAATAAATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0135 a0001c0002t0029g0135	1	356	0.0028	-20	c.206 others(37): Show c.206+1230_206+1249delGTTTATTTATTTATTTATTT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	4/14			chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76066125	TAAATAAA others(13): Show TAAATAAATAAATAAACAAAC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	356	0.0028	-20	c.206 others(37): Show c.206+1226_206+1245delGTTTGTTTATTTATTTATTT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	4/14			chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76068735	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG02647.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0038 a0001c0001t0037 a0001c0001t0038	a0001c0001t0037g0071 a0001c0001t0038g0070 a0001c0001t0037g0071 a0001c0001t0038g0070	2	356	0.0056	-20	c.103 others(35): Show c.103+154_103+173delGTGTGTGTGTGTGTGTGTGT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	3/14			chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76076549	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(191): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0057 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0002t0031 a0001c0002t0058 a0001c0002t0073	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 others(163): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0131 a0001c0001t0002g0181 a0001c0001t0002g0201 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0041 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0006g0009 a0001c0001t0006g0028 a0001c0001t0006g0038 a0001c0001t0006g0046 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0061 a0001c0001t0006g0119 a0001c0001t0006g0121 a0001c0001t0008g0125 a0001c0001t0008g0127 a0001c0001t0008g0129 a0001c0001t0008g0268 a0001c0001t0011g0032 a0001c0001t0011g0034 a0001c0001t0011g0036 a0001c0001t0011g0117 a0001c0001t0012g0029 a0001c0001t0012g0031 a0001c0001t0013g0013 a0001c0001t0013g0081 a0001c0001t0013g0084 a0001c0001t0030g0010 a0001c0001t0032g0027 a0001c0001t0032g0141 a0001c0001t0033g0064 a0001c0001t0033g0075 a0001c0001t0034g0185 a0001c0001t0034g0197 a0001c0001t0035g0109 a0001c0001t0035g0110 a0001c0001t0036g0008 a0001c0001t0037g0057 a0001c0001t0037g0071 a0001c0001t0038g0058 a0001c0001t0038g0070 a0001c0001t0043g0030 a0001c0001t0048g0062 a0001c0001t0049g0065 a0001c0001t0050g0192 a0001c0001t0057g0083 a0001c0001t0069g0076 a0001c0001t0070g0204 a0001c0001t0071g0077 a0001c0001t0072g0126 a0001c0001t0076g0079 a0001c0001t0077g0206 a0001c0001t0078g0179 a0001c0001t0079g0033 a0001c0001t0080g0194 a0001c0001t0081g0193 a0001c0001t0082g0072 a0001c0001t0083g0128 a0001c0001t0084g0035 a0001c0001t0085g0082 a0001c0001t0086g0122 a0001c0001t0087g0103 a0001c0001t0089g0095 a0001c0001t0090g0067 a0001c0001t0091g0099 a0001c0001t0092g0093 a0001c0001t0094g0106 a0001c0001t0095g0100 a0001c0001t0096g0090 a0001c0001t0097g0052 a0001c0001t0098g0097 a0001c0002t0031g0272 a0001c0002t0058g0144 a0001c0002t0073g0281	194	356	0.5449	-20	c.-20 others(37): Show c.-20-2330_-20-2311delATATATATATATATATATAT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	1/14			chr12	TogoVar
NAPA_chr19_47482637_47520063	47509289	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp1 HG01928.hp2 others(28): Show HG01123.hp2 HG01261.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02109.hp1 HG02300.hp1 HG02523.hp1 HG02896.hp2 NA18612.hp1 NA18942.hp2 NA18959.hp1 NA18961.hp1 NA18966.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp2 NA18989.hp2 NA18997.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19074.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(21): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0093 a0001c0001t0003g0130 a0001c0001t0005g0126	31	338	0.0917	-20	c.98+ others(35): Show c.98+5534_98+5553delATTTTATTTTATTTTATTTT	NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding	1/10			chr19	TogoVar
NAPA_chr19_47482637_47520063	47509334	TAAAATAA others(13): Show TAAAATAAAATAAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	338	0.0030	-20	c.98+ others(35): Show c.98+5489_98+5508delTATTTATTTTATTTTATTTT	NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding	1/10			chr19	TogoVar
NAPRT_chr8_143569785_143583330	143573188	CCCGCCCC others(13): Show CCCGCCCCCTGCACGCTGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	403	0.0025	-20	c.16 others(31): Show c.1630_*1649delAGCCAGCGTGCAGGGGGCGG	NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding		1596		chr8	TogoVar
NARS2_chr11_78430968_78579864	78480305	ACGCAGGC others(13): Show ACGCAGGCAGTGGTGCAATGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0159 a0003c0008t0003g0159	1	294	0.0034	-20	c.823 others(37): Show c.823-1642_823-1623delCCATTGCACCACTGCCTGCG	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	7/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78505269	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18993.hp1 NA18973.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0030 a0001c0001t0001g0033	2	294	0.0068	-20	c.690 others(39): Show c.690-12094_690-12075delGTGTGTGTGTGTGTGTGTGT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	6/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45586278	GTGTGTGG others(13): Show GTGTGTGGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	300	0.0033	-20	c.59+ others(35): Show c.59+2074_59+2093delTGTGTGGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NASP_chr1_45579041_45623893	45595129	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19030.hp1 HG03710.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0040 a0001c0002t0001g0244 a0001c0001t0001g0040 a0001c0002t0001g0244	2	300	0.0067	-20	c.107 others(37): Show c.107+3899_107+3918delGTGTGTGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAT10_chr11_34100629_34151908	34103733	CACAAAAA others(13): Show CACAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02922.hp2 others(2): Show HG02145.hp1 HG02258.hp1 HG02922.hp2 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0005 a0001c0004t0008 a0001c0004t0003 a0001c0004t0005 a0001c0004t0008	a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0004t0005g0027 others(2): Show a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0004t0005g0027 a0001c0004t0005g0031 a0001c0004t0008g0028	5	262	0.0191	-20	c.-20 others(31): Show c.-2074_-2055delACAAAAAAAAAAAAAAAAAA	NAT10	ENSG00000135372.10	transcript	ENST00000257829.8	protein_coding		1895		chr11	TogoVar
NAV1_chr1_201534127_201831969	201549077	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03654.hp2 HG02735.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0010 a0001c0001t0008g0009 a0001c0001t0003g0010 a0001c0001t0008g0009	2	210	0.0095	-20	c.-14 others(39): Show c.-144+9784_-144+9803delTCTTTCTTTCTTTCTTTCTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201642184	CCTTCCCT others(13): Show CCTTCCCTCCTTTCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG02559.hp2 others(4): Show HG00673.hp1 HG01109.hp1 HG02559.hp2 HG03225.hp2 HG03540.hp1 HG03834.hp1 NA19057.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0006 a0015c0034 a0001c0001 a0001c0006 a0015c0034	a0001c0001t0004 a0001c0001t0028 a0001c0001t0030 others(4): Show a0001c0001t0004 a0001c0001t0028 a0001c0001t0030 a0001c0001t0039 a0001c0001t0063 a0001c0006t0021 a0015c0034t0024	a0001c0001t0004g0040 a0001c0001t0028g0177 a0001c0001t0030g0098 others(4): Show a0001c0001t0004g0040 a0001c0001t0028g0177 a0001c0001t0030g0098 a0001c0001t0039g0003 a0001c0001t0063g0047 a0001c0006t0021g0201 a0015c0034t0024g0196	7	210	0.0333	-20	c.827 others(37): Show c.827-6444_827-6425delCTCCTTTCTTCCTTTCTTCC	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201756794	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02976.hp2 HG03486.hp1 others(6): Show HG01071.hp2 HG02976.hp2 HG03486.hp1 NA18522.hp2 NA18940.hp1 NA18951.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0010 others(3): Show a0001c0001 a0001c0006 a0001c0010 a0001c0015 a0002c0002 a0003c0037	a0001c0001t0002 a0001c0001t0010 a0001c0001t0045 others(5): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0045 a0001c0006t0021 a0001c0010t0092 a0001c0015t0023 a0002c0002t0010 a0003c0037t0061	a0001c0001t0002g0005 a0001c0001t0010g0164 a0001c0001t0045g0135 others(6): Show a0001c0001t0002g0005 a0001c0001t0010g0164 a0001c0001t0045g0135 a0001c0006t0021g0130 a0001c0010t0092g0173 a0001c0015t0023g0192 a0001c0015t0023g0193 a0002c0002t0010g0150 a0003c0037t0061g0104	9	210	0.0429	-20	c.208 others(41): Show c.2088-23612_2088-23593delCTTCTTTCTTTCTTTCTTTC	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201821505	GACACACA others(13): Show GACACACACACACACACACAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG00735.hp2 others(32): Show HG00140.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01978.hp1 HG02055.hp1 HG02056.hp2 HG02145.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03516.hp2 HG03704.hp1 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA19011.hp1 NA19057.hp2 NA19064.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0008 a0012	a0001c0001 a0001c0014 a0002c0002 others(5): Show a0001c0001 a0001c0014 a0002c0002 a0005c0005 a0005c0016 a0006c0033 a0008c0011 a0012c0022	a0001c0001t0001 a0001c0001t0031 a0001c0001t0047 others(16): Show a0001c0001t0001 a0001c0001t0031 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0086 a0001c0001t0098 a0001c0014t0001 a0001c0014t0036 a0002c0002t0001 a0002c0002t0013 a0002c0002t0036 a0002c0002t0099 a0005c0005t0001 a0005c0005t0014 a0005c0016t0014 a0006c0033t0001 a0008c0011t0013 a0012c0022t0031	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0059 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0181 a0001c0001t0031g0114 a0001c0001t0047g0200 a0001c0001t0048g0184 a0001c0001t0049g0075 a0001c0001t0086g0110 a0001c0001t0098g0015 a0001c0014t0001g0170 a0001c0014t0036g0175 a0002c0002t0001g0091 a0002c0002t0001g0147 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0013g0145 a0002c0002t0036g0056 a0002c0002t0099g0025 a0005c0005t0001g0074 a0005c0005t0014g0131 a0005c0016t0014g0004 a0005c0016t0014g0026 a0006c0033t0001g0132 a0008c0011t0013g0073 a0008c0011t0013g0178 a0012c0022t0031g0197	35	210	0.1667	-20	c.16 others(31): Show c.1601_*1620delCACACACACACACACACACA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	34/34	1601	INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19741685	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp2 HG01169.hp2 others(3): Show HG00639.hp1 HG01168.hp2 HG01169.hp2 NA18947.hp1 NA19088.hp1 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0021	a0001c0069 a0002c0004 a0002c0013 others(2): Show a0001c0069 a0002c0004 a0002c0013 a0004c0016 a0021c0089	a0001c0069t0004 a0002c0004t0001 a0002c0013t0001 others(2): Show a0001c0069t0004 a0002c0004t0001 a0002c0013t0001 a0004c0016t0001 a0021c0089t0043	a0001c0069t0004g0019 a0002c0004t0001g0040 a0002c0013t0001g0144 others(3): Show a0001c0069t0004g0019 a0002c0004t0001g0040 a0002c0013t0001g0144 a0002c0013t0001g0145 a0004c0016t0001g0021 a0021c0089t0043g0020	6	166	0.0361	-20	c.267 others(39): Show c.267+27725_267+27744delGTATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19945153	CTCCCTTC others(13): Show CTCCCTTCCCTTCCCTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02572.hp1 HG02976.hp2 others(2): Show HG01256.hp1 HG02572.hp1 HG02976.hp2 HG03195.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0018 a0001c0019 a0001c0029 others(2): Show a0001c0018 a0001c0019 a0001c0029 a0002c0124 a0003c0062	a0001c0018t0048 a0001c0019t0049 a0001c0029t0006 others(2): Show a0001c0018t0048 a0001c0019t0049 a0001c0029t0006 a0002c0124t0003 a0003c0062t0027	a0001c0018t0048g0141 a0001c0019t0049g0142 a0001c0029t0006g0104 others(2): Show a0001c0018t0048g0141 a0001c0019t0049g0142 a0001c0029t0006g0104 a0002c0124t0003g0091 a0003c0062t0027g0129	5	166	0.0301	-20	c.214 others(39): Show c.2147-1216_2147-1197delCCCTTCCCTTCCCTTCCCTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106155	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02300.hp1 NA18991.hp2 HG00438.hp2 HG02300.hp1 NA18991.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0125 a0004c0127 a0005c0061 a0002c0125 a0004c0127 a0005c0061	a0002c0125t0002 a0004c0127t0002 a0005c0061t0002 a0002c0125t0002 a0004c0127t0002 a0005c0061t0002	a0002c0125t0002g0125 a0004c0127t0002g0049 a0005c0061t0002g0048 a0002c0125t0002g0125 a0004c0127t0002g0049 a0005c0061t0002g0048	3	166	0.0181	-20	c.684 others(37): Show c.6841+430_6841+449delATATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106163	ATATATAT others(13): Show ATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0008 a0008	a0008c0117 a0008c0117	a0008c0117t0029 a0008c0117t0029	a0008c0117t0029g0160 a0008c0117t0029g0160	1	166	0.0060	-20	c.684 others(37): Show c.6841+450_6841+469delGTGTGTGTATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	78144928	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0054 a0001c0049t0054	a0001c0049t0054g0150 a0001c0049t0054g0150	1	186	0.0054	-20	c.468 others(39): Show c.4684-1437_4684-1418delAAAAAAAAAAAAAAAAGAAA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	20/39		INFO_REALIGN_3_PRIME	chr12	TogoVar

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