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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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	264	0.0038	-23	c.492 others(40): Show c.492+3183_492+3205delTTTTTTTTTTTTTTTTTTTTTTT		NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11						chr3	TogoVar
NHSL2_chrX_71905845_72158286	71980554	GTGTGGGG others(16): Show GTGTGGGGTGTGTGGGGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp1 HG02015.hp1 others(28): Show HG00438.hp1 HG01243.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp1 HG02965.hp1 HG04199.hp1 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18979.hp1 NA18994.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19068.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0021 a0001c0001t0041 a0001c0001t0050 a0001c0001t0062 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0072 a0001c0003t0029 a0001c0003t0084 a0002c0002t0002 a0003c0004t0001 a0003c0004t0008	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0003g0050 a0001c0001t0009g0032 a0001c0001t0009g0040 a0001c0001t0010g0008 a0001c0001t0020g0042 a0001c0001t0020g0139 a0001c0001t0021g0006 a0001c0001t0021g0007 a0001c0001t0041g0044 a0001c0001t0050g0119 a0001c0001t0062g0036 a0001c0001t0064g0009 a0001c0001t0066g0046 a0001c0001t0067g0148 a0001c0001t0069g0048 a0001c0001t0072g0038 a0001c0003t0029g0149 a0001c0003t0084g0150 a0002c0002t0002g0039 a0003c0004t0001g0043 a0003c0004t0008g0003	31	187	0.1658	-23	c.280 others(42): Show c.280+69188_280+69210delTGTGGGGTGTGTGGGGTGTGTGT		NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7						chrX	TogoVar
NHS_chrX_17370200_17740994	17425522	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0128 a0001c0003t0002g0128	1	164	0.0061	-23	c.565 others(42): Show c.565+49227_565+49249delAAAAAAAAAAAAAAAAAAAAAAA		NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127523189	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	332	0.0030	-23	c.589 others(38): Show c.589+467_589+489delATATATATATATATATATATTTT		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13						chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523193	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01256.hp2 others(5): Show HG00738.hp1 HG01099.hp1 HG01256.hp2 HG01346.hp2 HG01517.hp2 HG02056.hp2 HG02523.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0173 a0001c0001t0003g0208 a0001c0001t0003g0214 others(5): Show a0001c0001t0003g0173 a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0320 a0001c0001t0004g0065 a0001c0001t0004g0068 a0001c0001t0004g0073 a0001c0001t0004g0099	8	332	0.0241	-23	c.589 others(38): Show c.589+463_589+485delATATATATATATATATATATATA		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13						chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127571216	CCCCTGGC others(16): Show CCCCTGGCCCAGGGACGGGTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(94): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01943.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18946.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp2 NA18987.hp1 NA19000.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19074.hp2 NA19077.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0003c0004 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0032 a0001c0001t0033 a0001c0002t0007 a0001c0007t0001 a0003c0004t0002 a0007c0011t0007	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 others(92): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0003g0001 a0001c0001t0003g0116 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0200 a0001c0001t0003g0291 a0001c0001t0006g0028 a0001c0001t0007g0122 a0001c0001t0007g0130 a0001c0001t0007g0206 a0001c0001t0008g0120 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0008g0128 a0001c0001t0008g0129 a0001c0001t0008g0143 a0001c0001t0008g0146 a0001c0001t0008g0156 a0001c0001t0008g0183 a0001c0001t0012g0160 a0001c0001t0012g0161 a0001c0001t0012g0162 a0001c0001t0019g0132 a0001c0001t0020g0131 a0001c0001t0021g0003 a0001c0001t0032g0165 a0001c0001t0033g0188 a0001c0002t0007g0127 a0001c0002t0007g0203 a0001c0002t0007g0204 a0001c0002t0007g0205 a0001c0007t0001g0179 a0001c0007t0001g0181 a0003c0004t0002g0189 a0007c0011t0007g0193	97	332	0.2922	-23	c.-23 others(34): Show c.-2365_-2343delAGGAACCCGTCCCTGGGCCAGGG		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding					2144		chr9	TogoVar
NIM1K_chr5_43187225_43285850	43213194	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 homoSapiens_chm13v2.hp1 HG02293.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0243 a0001c0002t0001g0026 a0001c0002t0001g0243	2	292	0.0069	-23	c.-69 others(44): Show c.-695+20786_-695+20808delCTTTCTTTCTTTCTTTCTTTCTT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	585474	AGGAAGGG others(16): Show AGGAAGGGAACGGTTGGAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0006 a0003c0002 others(2): Show a0001c0001 a0002c0006 a0003c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0006t0001 a0003c0002t0001 a0004c0004t0002 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(249): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0347 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0387 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0399 a0001c0001t0001g0402 a0001c0001t0001g0403 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0244 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0299 a0001c0001t0002g0321 a0001c0001t0002g0328 a0001c0001t0002g0362 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0373 a0001c0001t0002g0381 a0001c0001t0002g0388 a0001c0001t0002g0398 a0001c0001t0003g0002 a0001c0001t0004g0275 a0002c0006t0001g0261 a0003c0002t0001g0163 a0004c0004t0002g0100 a0005c0005t0001g0199	253	404	0.6262	-23	c.34- others(40): Show c.34-19319_34-19297delCTTCCCTCCAACCGTTCCCTTCC		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINL_chr20_25447697_25590531	25542697	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01884.hp1 HG01975.hp1 others(2): Show HG01515.hp1 HG01884.hp1 HG01975.hp1 HG02970.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(2): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0002g0234 a0002c0002t0009g0233	5	310	0.0161	-23	c.-11 others(42): Show c.-11-16122_-11-16100delTTTTTTTTTTTTTTTTTTTTTTT		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23						chr20	TogoVar
NIT2_chr3_100329757_100366635	100334767	GCAGGTGG others(16): Show GCAGGTGGTGCTTGTCTGCAGAGT	G G	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG02683.hp2 HG04204.hp2 HG02683.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0001 a0001c0001t0030g0082 a0001c0001t0030g0001 a0001c0001t0030g0082	2	396	0.0051	-23	c.-22 others(28): Show c.-22_1delGGTGGTGCTTGTCTGCAGAGTCA	p.Met others(3): Show p.Met1fs	NIT2	ENSG00000114021.12	transcript	ENST00000394140.9	protein_coding	1/10	14/7233	1/831	1/276		INFO_REALIGN_3_PRIME	chr3	TogoVar
NKTR_chr3_42595686_42653735	42607969	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0084 a0001c0001t0046g0084	1	352	0.0028	-23	c.58+ others(38): Show c.58+6926_58+6948delTTTTTTTTTTTTTTTTTTTTTTT		NKTR	ENSG00000114857.19	transcript	ENST00000232978.13	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN4X_chrX_5885042_6233867	6116391	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG02055.hp1 others(9): Show HG00423.hp1 HG00609.hp1 HG02055.hp1 HG03654.hp1 HG03927.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18980.hp2 NA19011.hp1 NA19065.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0003 a0001c0005t0004	a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0100 others(9): Show a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0100 a0001c0001t0002g0014 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0011g0108 a0001c0002t0003g0046 a0001c0002t0003g0057 a0001c0005t0004g0056	12	128	0.0938	-23	c.472 others(42): Show c.472+34581_472+34603delAAAAAAAAAAAAAAAAAAAAAAA		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5						chrX	TogoVar
NLGN4Y_chrY_14519529_14850654	14792784	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	121	0.0083	-23	c.686 others(42): Show c.686-31386_686-31364delAAAAAAAAAAAAAAAAAAAAAAA		NLGN4Y	ENSG00000165246.15	transcript	ENST00000684976.1	protein_coding	4/6					INFO_REALIGN_3_PRIME	chrY	TogoVar
NLRC3_chr16_3534033_3582403	3580817	ACCGGACG others(16): Show ACCGGACGCAATGGTAAAGGCATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0151 a0002c0004t0004g0151	1	396	0.0025	-23	c.-38 others(34): Show c.-3860_-3838delCATGCCTTTACCATTGCGTCCGG		NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding					3415		chr16	TogoVar
NLRP11_chr19_55780399_55836999	55821227	ACACACAC others(16): Show ACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0431 a0001c0003t0001g0431	1	444	0.0023	-23	c.-62 others(40): Show c.-62-3014_-62-2992delGTGTGTGTGTGTGTGTGTGTGTG		NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding	1/9						chr19	TogoVar
NLRP2_chr19_54961374_55006138	55000270	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0337 a0001c0002t0001g0337	1	429	0.0023	-23	c.305 others(40): Show c.3051-473_3051-451delTTTTTTTTTTTTTTTTTTTTTTT		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56043542	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0007 a0007	a0007c0072 a0007c0072	a0007c0072t0001 a0007c0072t0001	a0007c0072t0001g0233 a0007c0072t0001g0233	1	396	0.0025	-23	c.295 others(42): Show c.2957+2469_2957+2491delTTTTTTTTTTTTTTTTTTTTTTT		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957671	AATTATAT others(16): Show AATTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp1 HG03098.hp2 others(5): Show HG00741.hp1 HG02109.hp1 HG03098.hp2 HG03225.hp1 HG03654.hp2 NA18940.hp1 NA18998.hp2 NA19068.hp2	a0000 a0017 a0000 a0017	a0000c0004 a0000c0025 a0000c0042 others(1): Show a0000c0004 a0000c0025 a0000c0042 a0017c0043	a0000c0004t0017 a0000c0004t0020 a0000c0004t0021 others(4): Show a0000c0004t0017 a0000c0004t0020 a0000c0004t0021 a0000c0004t0057 a0000c0025t0001 a0000c0042t0001 a0017c0043t0010	a0000c0004t0017g0218 a0000c0004t0020g0231 a0000c0004t0021g0222 others(5): Show a0000c0004t0017g0218 a0000c0004t0020g0231 a0000c0004t0021g0222 a0000c0004t0057g0211 a0000c0025t0001g0133 a0000c0025t0001g0134 a0000c0042t0001g0189 a0017c0043t0010g0237	8	350	0.0229	-23	c.204 others(42): Show c.2042+1574_2042+1596delTATATATATATATATATATATAT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957677	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0009 a0009c0022t0009	a0009c0022t0009g0164 a0009c0022t0009g0164	1	350	0.0029	-23	c.204 others(42): Show c.2042+1578_2042+1600delTATATATATATATATATATATAT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9						chr19	TogoVar
NLRP8_chr19_55942832_55993629	55991305	AGTGCAGC others(16): Show AGTGCAGCCTAGACATCAACAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0000 a0000	a0000c0060 a0000c0060	a0000c0060t0030 a0000c0060t0030	a0000c0060t0030g0309 a0000c0060t0030g0309	1	350	0.0029	-23	c.33 others(34): Show c.3393_*3415delGTGCAGCCTAGACATCAACAGAG		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					2677		chr19	TogoVar
NMB_chr15_84650132_84663199	84661841	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA18957.hp2 HG02922.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	408	0.0049	-23	c.-37 others(34): Show c.-3712_-3690delTTTTTTTTTTTTTTTTTTTTTTT		NMB	ENSG00000197696.10	transcript	ENST00000360476.8	protein_coding					3643		chr15	TogoVar
NMD3_chr3_161216311_161257307	161245755	ATATATTA others(16): Show ATATATTATATATAGCAGATGTAC	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	398	0.0025	-23	c.101 others(40): Show c.1018-558_1018-536delCTATATTATATATAGCAGATGTA		NMD3	ENSG00000169251.13	transcript	ENST00000351193.7	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
NME8_chr7_37843597_37905397	37848175	AAGAAGAA others(16): Show AAGAAGAAGAAGAAGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0188 a0001c0007t0001g0188	1	388	0.0026	-23	c.-79 others(32): Show c.-793_-771delAGAAGAAGAAGAAGAAGAAGAAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					421		chr7	TogoVar
NMNAT1_chr1_9938475_9990498	9971030	TTGGGTTT others(16): Show TTGGGTTTGCTTATGTGTCTGAGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	314	0.0032	-23	c.-56 others(38): Show c.-56-987_-56-965delTGGGTTTGCTTATGTGTCTGAGC		NMNAT1	ENSG00000173614.14	transcript	ENST00000377205.6	protein_coding	1/4						chr1	TogoVar
NMT2_chr10_15100770_15173693	15112196	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19012.hp1 NA18960.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0169 a0001c0001t0001g0085 a0001c0001t0001g0169	2	276	0.0073	-23	c.133 others(40): Show c.1338+577_1338+599delAAATATATATATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112204	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0206 a0001c0001t0049g0206	1	276	0.0036	-23	c.133 others(40): Show c.1338+569_1338+591delAAAAAAAAAAATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112206	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0045 a0001c0005t0010g0045	1	276	0.0036	-23	c.133 others(40): Show c.1338+567_1338+589delAAAAAAAAAAAAATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112208	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 NA20300.hp2 HG02647.hp1 HG03225.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0010 a0002c0008t0010 a0001c0002t0010 a0002c0008t0010	a0001c0002t0010g0011 a0001c0002t0010g0012 a0002c0008t0010g0013 a0001c0002t0010g0011 a0001c0002t0010g0012 a0002c0008t0010g0013	3	276	0.0109	-23	c.133 others(40): Show c.1338+565_1338+587delAAAAAAAAAAAAAAATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15147095	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02145.hp2 others(6): Show HG01109.hp1 HG01243.hp1 HG02145.hp2 HG02559.hp1 HG02615.hp1 HG03130.hp1 HG03195.hp2 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0010 a0001c0002t0015 others(3): Show a0001c0001t0004 a0001c0002t0010 a0001c0002t0015 a0001c0002t0018 a0001c0002t0031 a0001c0002t0032	a0001c0001t0004g0269 a0001c0002t0010g0126 a0001c0002t0015g0102 others(6): Show a0001c0001t0004g0269 a0001c0002t0010g0126 a0001c0002t0015g0102 a0001c0002t0015g0123 a0001c0002t0015g0124 a0001c0002t0018g0268 a0001c0002t0018g0271 a0001c0002t0031g0270 a0001c0002t0032g0101	9	276	0.0326	-23	c.111 others(40): Show c.111-5561_111-5539delTTTTTTTTTTTTTTTTTTTTTTT		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11						chr10	TogoVar
NOC4L_chr12_132139457_132157468	132153185	ACTGCGTA others(16): Show ACTGCGTAGAGTTCCGGGTAGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	294	0.0034	-23	c.78 others(32): Show c.785_*807delCTGCGTAGAGTTCCGGGTAGATG		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding					718		chr12	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149414894	AACTGTAT others(16): Show AACTGTATCCTTGAGGTAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00735.hp1 others(2): Show HG00544.hp1 HG00558.hp2 HG00735.hp1 HG01516.hp2 HG03942.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0011 a0014c0012t0017 a0014c0012t0011 a0014c0012t0017	a0014c0012t0011g0239 a0014c0012t0011g0241 a0014c0012t0011g0243 others(2): Show a0014c0012t0011g0239 a0014c0012t0011g0241 a0014c0012t0011g0243 a0014c0012t0017g0240 a0014c0012t0017g0244	5	260	0.0192	-23	c.136 others(42): Show c.136-16046_136-16024delCTGTATCCTTGAGGTAGAAAAGA		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15173095	CTTCTTCT others(16): Show CTTCTTCTTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0076 a0003c0004t0001g0076	1	340	0.0029	-23	c.473 others(40): Show c.4736+950_4736+972delAAAAAAAAAAAAAAGAAGAAGAA		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NOTUM_chr17_81947507_81966187	81956440	CACACAGC others(16): Show CACACAGCCGGCCTCCTCCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp1 HG02572.hp1 others(10): Show HG00609.hp2 HG02165.hp1 HG02572.hp1 NA18747.hp1 NA18940.hp2 NA18957.hp2 NA18966.hp2 NA18969.hp1 NA18982.hp1 NA18999.hp1 NA19004.hp2 NA19083.hp2 NA19085.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0008c0012t0001	a0001c0001t0001g0031 a0001c0001t0002g0006 a0001c0001t0013g0099 others(1): Show a0001c0001t0001g0031 a0001c0001t0002g0006 a0001c0001t0013g0099 a0008c0012t0001g0043	13	384	0.0339	-23	c.988 others(38): Show c.988+187_988+209delACCAGGGAGGAGGCCGGCTGTGT		NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding	8/10						chr17	TogoVar
NOTUM_chr17_81947507_81966187	81962559	GTTTCAGG others(16): Show GTTTCAGGACAACCAGGTCTTACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-23	c.-16 others(34): Show c.-1673_-1651delTGTAAGACCTGGTTGTCCTGAAA		NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding					1373		chr17	TogoVar
NPAS1_chr19_47014837_47050775	47029601	ATGTTGGC others(16): Show ATGTTGGCCAGGCTGGTCTTGAAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	418	0.0024	-23	c.359 others(40): Show c.359-2675_359-2653delGTTGGCCAGGCTGGTCTTGAACT		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS2_chr2_100815139_101001829	100935067	TTGAAAAA others(16): Show TTGAAAAAACAAAATTGACCTGGC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02895.hp2 HG01346.hp2 HG02895.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0022 a0001c0001 a0005c0022	a0001c0001t0003 a0005c0022t0001 a0001c0001t0003 a0005c0022t0001	a0001c0001t0003g0122 a0005c0022t0001g0258 a0001c0001t0003g0122 a0005c0022t0001g0258	2	288	0.0069	-23	c.273 others(40): Show c.273+2092_273+2114delAAAAAACAAAATTGACCTGGCTG		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	33198053	TAGAGTTG others(16): Show TAGAGTTGTTTGTTCCTCCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01433.hp2 others(9): Show HG00140.hp2 HG00735.hp2 HG01433.hp2 HG01496.hp2 HG02647.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG03942.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0022 a0001c0001t0025 a0001c0001t0036 a0001c0001t0051 a0001c0001t0053 a0001c0001t0056 a0001c0009t0037 a0002c0002t0031	a0001c0001t0002g0018 a0001c0001t0004g0007 a0001c0001t0009g0061 others(9): Show a0001c0001t0002g0018 a0001c0001t0004g0007 a0001c0001t0009g0061 a0001c0001t0013g0022 a0001c0001t0022g0015 a0001c0001t0025g0065 a0001c0001t0036g0075 a0001c0001t0051g0010 a0001c0001t0053g0048 a0001c0001t0056g0047 a0001c0009t0037g0085 a0002c0002t0031g0077	12	92	0.1304	-23	c.141 others(42): Show c.141-17119_141-17097delTGTTCCTCCCGTCCAGAGTTGTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPIPB5_chr16_22505891_22541535	22521876	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0017 a0017	a0017c0007 a0017c0007	a0017c0007t0001 a0017c0007t0001	a0017c0007t0001g0035 a0017c0007t0001g0035	1	47	0.0213	-23	c.121 others(40): Show c.121-1928_121-1906delTTTTTTTTTTTTTTTTTTTTTTT		NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28455090	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03453.hp2 HG02922.hp1 HG03453.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0045 a0007c0006t0005 a0007c0006t0045	a0007c0006t0005g0094 a0007c0006t0045g0110 a0007c0006t0005g0094 a0007c0006t0045g0110	2	382	0.0052	-23	c.13 others(34): Show c.1311_*1333delTTTTTTTTTTTTTTTTTTTTTTT		NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding					1238		chr16	TogoVar
NPM2_chr8_22019134_22041897	22021909	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	434	0.0023	-23	c.-28 others(34): Show c.-2854_-2832delAAAAAAAAAAAAAAAAAAAAAAA		NPM2	ENSG00000158806.14	transcript	ENST00000518119.6	protein_coding					2224		chr8	TogoVar
NPRL3_chr16_80386_143673	98345	CCCTGCAC others(16): Show CCCTGCACCGGGTATGCACCAGGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03540.hp1 others(4): Show HG03098.hp1 HG03486.hp2 HG03540.hp1 HG04204.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0015 a0001c0001 a0002c0003 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0002c0003t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0009 a0002c0003t0022 a0003c0015t0004	a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0002g0244 others(4): Show a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0002g0244 a0002c0003t0009g0344 a0002c0003t0009g0346 a0002c0003t0022g0347 a0003c0015t0004g0303	7	350	0.0200	-23	c.768 others(36): Show c.768-67_768-45delACCTGGTGCATACCCGGTGCAGG		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	8/13						chr16	TogoVar
NPSR1_chr7_34653218_34854978	34790786	ATATATAT others(16): Show ATATATATGTTATAGGTTATATGT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0070 a0014c0029t0001g0070	1	260	0.0039	-23	c.384 others(42): Show c.384+12248_384+12270delATATGTTATAGGTTATATGTTAT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTXR_chr22_38813452_38849028	38834576	CTCATCCA others(16): Show CTCATCCATCCATCCATCCATCCA	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0204	1	354	0.0028	-23	c.625 others(40): Show c.625-6087_625-6065delTGGATGGATGGATGGATGGATGA		NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding	1/4						chr22	TogoVar
NPY4R_chr10_46456099_46470958	46466261	TTCCTTTC others(16): Show TTCCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0005 a0002c0004t0004g0005	1	290	0.0035	-23	c.-82 others(32): Show c.-822_-800delGAAAGAAAGAAAGAAAGAAAGGA		NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding					304		chr10	TogoVar
NQO2_chr6_2994894_3024755	2999720	GGCCTGGG others(16): Show GGCCTGGGCGCGGACGGGCGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0113 a0003c0004t0001g0113	1	446	0.0022	-23	c.-45 others(32): Show c.-450_-428delGCCTGGGCGCGGACGGGCGCGGA		NQO2	ENSG00000124588.22	transcript	ENST00000380455.11	protein_coding					173		chr6	TogoVar
NR1D2_chr3_23940286_23985617	23946153	GGAGGCCG others(16): Show GGAGGCCGCGCGTGCGCGCCCGCT	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	380	0.0026	-23	c.16+ others(36): Show c.16+563_16+585delGCCGCGCGTGCGCGCCCGCTGAG		NR1D2	ENSG00000174738.13	transcript	ENST00000312521.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
NR1D2_chr3_23940286_23985617	23982933	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02630.hp2 HG02717.hp2 HG01934.hp2 HG02630.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0211 a0001c0001t0003g0026 a0001c0001t0003g0211	3	380	0.0079	-23	c.55 others(34): Show c.5515_*5537delTTTTTTTTTTTTTTTTTTTTTTT		NR1D2	ENSG00000174738.13	transcript	ENST00000312521.9	protein_coding					2317		chr3	TogoVar
NR1I3_chr1_161224669_161243203	161236933	GGGTTTTG others(16): Show GGGTTTTGCCATGTTGCCCAGGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01257.hp2 others(3): Show HG00099.hp1 HG01069.hp2 HG01257.hp2 HG02683.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157	6	436	0.0138	-23	c.-33 others(38): Show c.-33-358_-33-336delAACCTGGGCAACATGGCAAAACC		NR1I3	ENSG00000143257.12	transcript	ENST00000367983.9	protein_coding	1/8						chr1	TogoVar
NR2C1_chr12_95015229_95078618	95015544	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTATGTAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0361 a0001c0001t0016g0361	1	430	0.0023	-23	c.66 others(34): Show c.6662_*6684delCTCTACATAAAAAAAAAAAAAAA		NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding					4684		chr12	TogoVar
NR2C1_chr12_95015229_95078618	95015545	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTATGTAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG03195.hp2 others(2): Show HG02559.hp1 HG02630.hp1 HG03195.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0362 a0001c0001t0006g0363 a0001c0001t0006g0364 others(2): Show a0001c0001t0006g0362 a0001c0001t0006g0363 a0001c0001t0006g0364 a0001c0001t0006g0365 a0001c0001t0006g0366	5	430	0.0116	-23	c.66 others(34): Show c.6661_*6683delTCTCTACATAAAAAAAAAAAAAA		NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding					4683		chr12	TogoVar

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