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	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
NFATC1_chr18_79390930_79534323	79419431	ACCTGCCC others(29): Show ACCTGCCCGGGAGCCCCCCTAGGAGGGCCGGCACCTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp2 others(21): Show HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02970.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0005 a0001c0008 others(9): Show a0001c0004 a0001c0005 a0001c0008 a0001c0013 a0001c0015 a0001c0048 a0001c0056 a0002c0012 a0002c0023 a0003c0007 a0003c0016 a0003c0032	a0001c0004t0002 a0001c0004t0004 a0001c0005t0005 others(14): Show a0001c0004t0002 a0001c0004t0004 a0001c0005t0005 a0001c0008t0005 a0001c0008t0046 a0001c0013t0005 a0001c0013t0007 a0001c0013t0025 a0001c0013t0056 a0001c0015t0007 a0001c0048t0005 a0001c0056t0009 a0002c0012t0006 a0002c0023t0019 a0003c0007t0002 a0003c0016t0002 a0003c0032t0007	a0001c0004t0002g0300 a0001c0004t0002g0301 a0001c0004t0004g0282 others(21): Show a0001c0004t0002g0300 a0001c0004t0002g0301 a0001c0004t0004g0282 a0001c0005t0005g0083 a0001c0008t0005g0288 a0001c0008t0046g0284 a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0007g0113 a0001c0013t0025g0046 a0001c0013t0056g0110 a0001c0015t0007g0285 a0001c0048t0005g0283 a0001c0056t0009g0137 a0002c0012t0006g0045 a0002c0023t0019g0317 a0002c0023t0019g0318 a0002c0023t0019g0319 a0003c0007t0002g0025 a0003c0016t0002g0026 a0003c0016t0002g0027 a0003c0016t0002g0028 a0003c0032t0007g0024	24	322	0.0745	-36	c.122 others(55): Show c.1226+8029_1226+8064delCCGGCACCTGCCTGCCCGGGAGCCCC CCTAGGAGGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79427506	AAGCTGGA others(29): Show AAGCTGGACGGCTGGCCTCTGTGCAGTGGGTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0026 a0007c0033t0026	a0007c0033t0026g0101 a0007c0033t0026g0101	1	322	0.0031	-36	c.122 others(55): Show c.1227-6042_1227-6007delGGGGGGAGCTGGACGGCTGGCCTCTG TGCAGTGGGT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79427537	GGGGGGAG others(29): Show GGGGGGAGCTGGACGGCTGGCCTCTGTGCAGTGGGTC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20129.hp2 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0018 a0001c0005 a0001c0018	a0001c0005t0016 a0001c0018t0009 a0001c0005t0016 a0001c0018t0009	a0001c0005t0016g0147 a0001c0018t0009g0128 a0001c0005t0016g0147 a0001c0018t0009g0128	2	322	0.0062	-36	c.122 others(55): Show c.1227-6036_1227-6001delAGCTGGACGGCTGGCCTCTGTGCAGT GGGTCGGGGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79520612	TGGGGGGG others(29): Show TGGGGGGGGCATCCACTGATGTGTGTGTCTGTGTGTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp1 HG02451.hp1 NA19240.hp1	a0001 a0001	a0001c0021 a0001c0054 a0001c0021 a0001c0054	a0001c0021t0047 a0001c0054t0041 a0001c0021t0047 a0001c0054t0041	a0001c0021t0047g0116 a0001c0054t0041g0007 a0001c0021t0047g0116 a0001c0054t0041g0007	2	322	0.0062	-36	c.278 others(55): Show c.2783-6880_2783-6845delCGGGGGGGGCATCCACTGATGTGTGT GTCTGTGTGT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC2_chr20_51381963_51547719	51396034	GTATGTAT others(29): Show GTATGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp2 HG02155.hp1 others(13): Show HG02027.hp2 HG02080.hp2 HG02155.hp1 HG02300.hp1 HG02523.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03471.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0046 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0019 a0001c0002t0021 a0001c0003t0002 a0001c0003t0055 a0001c0009t0028	a0001c0001t0002g0020 a0001c0001t0003g0268 a0001c0001t0019g0039 others(13): Show a0001c0001t0002g0020 a0001c0001t0003g0268 a0001c0001t0019g0039 a0001c0001t0021g0009 a0001c0001t0021g0240 a0001c0001t0024g0197 a0001c0001t0046g0016 a0001c0002t0004g0086 a0001c0002t0005g0285 a0001c0002t0007g0062 a0001c0002t0019g0297 a0001c0002t0021g0254 a0001c0003t0002g0127 a0001c0003t0002g0250 a0001c0003t0055g0128 a0001c0009t0028g0166	16	316	0.0506	-36	c.44 others(53): Show c.44+2573_*44+2608delTATATATATATATATATATATATATATA TATACATA		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10						chr20	TogoVar
NFATC3_chr16_68080370_68234259	68228545	GAAATGCT others(29): Show GAAATGCTTTCCTATTTAAAATAAACATTAAATTTTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0168 a0001c0001t0024g0168	1	188	0.0053	-36	c.20 others(47): Show c.2079_*2114delGCTTTCCTATTTAAAATAAACATTAAATTTTAAA AT		NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	10/10				2079	INFO_REALIGN_3_PRIME	chr16	TogoVar
NFIA_chr1_61077561_61467788	61200032	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01167.hp1 others(45): Show HG00099.hp1 HG00735.hp1 HG01167.hp1 HG01256.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01943.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02897.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03831.hp1 HG04115.hp1 HG04204.hp2 NA18522.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18967.hp1 NA18969.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA19000.hp2 NA19003.hp2 NA19007.hp1 NA19030.hp1 NA19063.hp1 NA19074.hp1 NA19077.hp1 NA19088.hp1 NA19088.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0057 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0019 a0001c0002t0024 a0001c0002t0052 a0001c0002t0053	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0041 others(45): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0099 a0001c0001t0002g0062 a0001c0001t0002g0124 a0001c0001t0002g0149 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0004g0081 a0001c0001t0005g0148 a0001c0001t0006g0092 a0001c0001t0008g0110 a0001c0001t0009g0039 a0001c0001t0009g0067 a0001c0001t0010g0040 a0001c0001t0010g0071 a0001c0001t0011g0078 a0001c0001t0014g0022 a0001c0001t0014g0128 a0001c0001t0017g0135 a0001c0001t0023g0143 a0001c0001t0038g0080 a0001c0001t0039g0029 a0001c0001t0041g0155 a0001c0001t0057g0093 a0001c0001t0061g0001 a0001c0002t0001g0010 a0001c0002t0001g0023 a0001c0002t0001g0056 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0086 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0150 a0001c0002t0002g0038 a0001c0002t0002g0100 a0001c0002t0002g0103 a0001c0002t0002g0147 a0001c0002t0006g0153 a0001c0002t0019g0151 a0001c0002t0019g0152 a0001c0002t0024g0004 a0001c0002t0052g0083 a0001c0002t0053g0011	48	156	0.3077	-36	c.560 others(55): Show c.560-77484_560-77449delATATATATATATATATATATATATAT ATATATGTAT		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14216516	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0071 a0001c0001t0006g0071	1	304	0.0033	-36	c.563 others(55): Show c.563-36772_563-36737delCACACAGAGGGAGAGAGAGAGAGAGA GAGAGAGAGA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14216520	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCCCTCTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20129.hp2 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0027 a0001c0001t0006 a0001c0001t0027	a0001c0001t0006g0075 a0001c0001t0027g0079 a0001c0001t0006g0075 a0001c0001t0027g0079	2	304	0.0066	-36	c.563 others(55): Show c.563-36776_563-36741delCACACACACAGAGGGAGAGAGAGAGA GAGAGAGAGA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14216524	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCCCTCTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	304	0.0033	-36	c.563 others(55): Show c.563-36780_563-36745delCACACACACACACAGAGGGAGAGAGA GAGAGAGAGA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFILZ_chr19_8625633_8686151	8652969	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0017 a0006c0006t0017	a0006c0006t0017g0054 a0006c0006t0017g0054	1	366	0.0027	-36	c.-16 others(57): Show c.-164+17233_-164+17268delCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8652979	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0162 a0001c0001t0162	a0001c0001t0162g0164 a0001c0001t0162g0164	1	366	0.0027	-36	c.-16 others(57): Show c.-164+17237_-164+17272delCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTCTT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995194	ACAGTATG others(29): Show ACAGTATGTATACTGTATATGTGTACAGTATGTATGC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02572.hp2 others(7): Show HG02055.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0002t0011 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0011 a0001c0003t0010	a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0009g0245 others(7): Show a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0009g0245 a0001c0002t0011g0133 a0001c0003t0010g0022 a0001c0003t0010g0048 a0001c0003t0010g0147 a0001c0003t0010g0148 a0001c0003t0010g0149 a0001c0003t0010g0151	10	362	0.0276	-36	c.-75 others(55): Show c.-75+17838_-75+17873delGCATACATACTGTACACATATACAGT ATACATACTG		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02886.hp1 HG02109.hp1 HG02559.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0228 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0001g0228 a0001c0001t0004g0255 a0001c0001t0004g0256	3	264	0.0114	-36	c.492 others(53): Show c.492+3170_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11						chr3	TogoVar
NHEJ1_chr2_219064357_219165815	219159528	TATATATA others(29): Show TATATATATGCATATATATATATGCATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG01884.hp1 others(9): Show HG00733.hp1 HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0046	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0162 others(8): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0010g0161 a0001c0001t0012g0002 a0001c0001t0012g0160 a0001c0001t0046g0159	12	350	0.0343	-36	c.-1+ others(50): Show c.-1+1156_1-1167delGCATATATATATGCATATATATATATGCATA TATAT		NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7						chr2	TogoVar
NHERF2_chr16_2021902_2044026	2042851	CCCCCCAT others(29): Show CCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03486.hp2 HG02723.hp1 HG02970.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0038 a0001c0001t0011 a0001c0001t0038	a0001c0001t0011g0113 a0001c0001t0011g0117 a0001c0001t0038g0206 a0001c0001t0011g0113 a0001c0001t0011g0117 a0001c0001t0038g0206	3	422	0.0071	-36	c.48 others(47): Show c.4868_*4903delCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTC CT		NHERF2	ENSG00000065054.14	transcript	ENST00000424542.7	protein_coding					3826		chr16	TogoVar
NHERF2_chr16_2021902_2044026	2042861	TCCCAGCG others(29): Show TCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0128 a0001c0001t0007g0128	1	422	0.0024	-36	c.48 others(47): Show c.4878_*4913delCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATT CC		NHERF2	ENSG00000065054.14	transcript	ENST00000424542.7	protein_coding					3836		chr16	TogoVar
NHLRC4_chr16_562005_574495	571502	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 NA21309.hp2 HG01884.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	2	424	0.0047	-36	c.30 others(47): Show c.3084_*3119delTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCG CC		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					2008		chr16	TogoVar
NHS_chrX_17370200_17740994	17376059	AGGCGGCG others(29): Show AGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02630.hp2 HG02630.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0002 a0013c0016t0002	a0013c0016t0002g0119 a0013c0016t0002g0119	1	164	0.0061	-36	c.310 others(43): Show c.310_345delCCCGCAGCCGGCGAGGCGTCCTCGGCGGCGGCGGCG	p.Pro others(13): Show p.Pro104_Ala115del	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/9	868/9044	310/4956	104/1651		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127523188	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	332	0.0030	-36	c.589 others(51): Show c.589+455_589+490delATATATATATATATATATATATATATATAT ATTTTT		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13						chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523190	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02683.hp1 HG03927.hp1 HG01361.hp1 HG02683.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0292 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0292	3	332	0.0090	-36	c.589 others(51): Show c.589+453_589+488delATATATATATATATATATATATATATATAT ATATTT		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13						chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523192	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0276 a0001c0001t0001g0277	2	332	0.0060	-36	c.589 others(51): Show c.589+451_589+486delATATATATATATATATATATATATATATAT ATATAT		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13						chr9	TogoVar
NIM1K_chr5_43187225_43285850	43198179	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp1 HG02258.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0157 a0001c0001t0003g0118 a0001c0001t0001g0157 a0001c0001t0003g0118	2	292	0.0069	-36	c.-69 others(55): Show c.-695+5770_-695+5805delTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCTTT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198183	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02735.hp2 HG02970.hp1 others(2): Show HG01192.hp1 HG02735.hp2 HG02970.hp1 HG03139.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0004 a0001c0001t0003 a0001c0005t0004	a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0126 others(2): Show a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0005t0004g0125	5	292	0.0171	-36	c.-69 others(55): Show c.-695+5774_-695+5809delTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198187	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	292	0.0034	-36	c.-69 others(55): Show c.-695+5778_-695+5813delTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198189	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18990.hp1 NA19005.hp2 HG02080.hp2 NA18990.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0289 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0289	3	292	0.0103	-36	c.-69 others(55): Show c.-695+5780_-695+5815delCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTCT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198193	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	292	0.0034	-36	c.-69 others(55): Show c.-695+5784_-695+5819delCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	582652	GGCAGGCA others(29): Show GGCAGGCAGGCATGCTAGAGTGAATGAATGAATGGAC	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18967.hp1 NA18982.hp2 others(9): Show NA18949.hp1 NA18967.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18993.hp1 NA19011.hp1 NA19056.hp1 NA19074.hp2 NA19078.hp1 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0165 a0001c0001t0001g0187 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0165 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0262	12	404	0.0297	-36	c.34- others(53): Show c.34-16510_34-16475delGTCCATTCATTCATTCACTCTAGCATGC CTGCCTGC		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	583187	ATGAATGA others(29): Show ATGAATGAATGGGTGCAGGCAGGCAGGCATGCTAGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG06807.hp2 HG02109.hp2 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0135 a0001c0001t0001g0371 a0001c0001t0001g0062 a0001c0001t0001g0135 a0001c0001t0001g0371	3	404	0.0074	-36	c.34- others(53): Show c.34-17045_34-17010delCACTAGCATGCCTGCCTGCCTGCACCCA TTCATTCA		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NKAIN2_chr6_123798865_124830640	123938396	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG03139.hp1 others(3): Show HG02559.hp2 HG02622.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0002g0044 a0001c0001t0002g0060 a0001c0002t0004g0063	6	66	0.0909	-36	c.54+ others(55): Show c.54+134163_54+134198delTATATATATATATATATATATATATA TATATATATA		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123938417	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp1 HG02895.hp1 others(7): Show HG00741.hp1 HG02559.hp1 HG02895.hp1 HG02896.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0028 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0005g0009 a0001c0001t0005g0015 a0001c0001t0020g0005 a0001c0002t0003g0029 a0001c0002t0004g0045	10	66	0.1515	-36	c.54+ others(55): Show c.54+134165_54+134200delTATATATATATATATATATATATATA TATATATACA		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123976336	TATATATG others(29): Show TATATATGTTCCCATATATATATATATATATATTCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02451.hp1 others(2): Show HG01243.hp1 HG01884.hp2 HG02451.hp1 HG02896.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 a0002c0004t0017	a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0021g0027 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0021g0027 a0001c0002t0001g0034 a0002c0004t0017g0013	5	66	0.0758	-36	c.54+ others(55): Show c.54+172089_54+172124delGTTCCCATATATATATATATATATAT TCCCATATAT		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123976348	CATATATA others(29): Show CATATATATATATATATATATTCCCATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA21309.hp1 HG02622.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0007 a0001c0001t0005 a0001c0002t0007	a0001c0001t0005g0015 a0001c0002t0007g0047 a0001c0001t0005g0015 a0001c0002t0007g0047	2	66	0.0303	-36	c.54+ others(55): Show c.54+172115_54+172150delTCCCATATATATATATATATATATAT ATATATATAT		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124028889	ATATATAT others(29): Show ATATATATATATATACACATATATGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG03516.hp2 HG02895.hp2 HG02896.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0007g0046 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0007g0046	3	66	0.0455	-36	c.54+ others(55): Show c.54+224650_54+224685delCACATATATGTATATATATGTGTATA TATATATATA		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62500424	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02970.hp2 HG01109.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0069 a0001c0001t0004 a0001c0001t0069	a0001c0001t0004g0042 a0001c0001t0069g0075 a0001c0001t0004g0042 a0001c0001t0069g0075	2	144	0.0139	-36	c.55- others(53): Show c.55-79087_55-79052delAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62741392	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG03130.hp1 others(2): Show HG02109.hp1 HG02965.hp2 HG03130.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0042 a0001c0001t0088 others(1): Show a0001c0001t0016 a0001c0001t0042 a0001c0001t0088 a0001c0001t0091	a0001c0001t0016g0026 a0001c0001t0016g0027 a0001c0001t0042g0063 others(2): Show a0001c0001t0016g0026 a0001c0001t0016g0027 a0001c0001t0042g0063 a0001c0001t0088g0076 a0001c0001t0091g0080	5	144	0.0347	-36	c.274 others(53): Show c.274-5538_274-5503delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGCAGGCA		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	CCTTCTTC others(29): Show CCTTCTTCTTCTTCCTCCTCCTCTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02293.hp2 HG01433.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	434	0.0046	-36	c.-19 others(47): Show c.-1919_-1884delAAGAAGAAGAAGAAGAGGAGGAGGAAGAAGAAGA AG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1726		chr8	TogoVar
NKX6-3_chr8_41640177_41655817	41641628	TGTCTTGC others(29): Show TGTCTTGCAGAAGTGGTTCATCCGCTTCATTTTACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0026 a0007c0007t0026	a0007c0007t0026g0069 a0007c0007t0026g0069	1	434	0.0023	-36	c.47 others(47): Show c.4785_*4820delCTGTAAAATGAAGCGGATGAACCACTTCTGCAAG AC		NKX6-3	ENSG00000165066.13	transcript	ENST00000518699.4	protein_coding					3548		chr8	TogoVar
NLGN4X_chrX_5885042_6233867	6021041	TCTCTCTC others(29): Show TCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18968.hp1 NA19011.hp1 others(2): Show HG01361.hp1 NA18968.hp1 NA19011.hp1 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0002g0121	5	128	0.0391	-36	c.625 others(53): Show c.625+8203_625+8238delGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGAGAG		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5						chrX	TogoVar
NLRC5_chr16_56984557_57088520	57030346	GAATGGAT others(29): Show GAATGGATGGCTGAAAAGATGGATGGGTGGATGAAAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01943.hp2 HG02004.hp1 others(1): Show HG00609.hp1 HG01943.hp2 HG02004.hp1 NA18960.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0001c0012 a0006c0009 a0001c0006 a0001c0012 a0006c0009	a0001c0006t0003 a0001c0012t0001 a0006c0009t0001 a0001c0006t0003 a0001c0012t0001 a0006c0009t0001	a0001c0006t0003g0253 a0001c0012t0001g0322 a0006c0009t0001g0108 others(1): Show a0001c0006t0003g0253 a0001c0012t0001g0322 a0006c0009t0001g0108 a0006c0009t0001g0286	4	424	0.0094	-36	c.241 others(53): Show c.2417+263_2417+298delAATGGATGGCTGAAAAGATGGATGGGTG GATGAAAA		NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	10/48						chr16	TogoVar
NLRP12_chr19_53788741_53829314	53796887	GGGAGGCT others(29): Show GGGAGGCTGAGGCAGGAATTGCTTGAACCCGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0018 a0019	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0016 a0001c0017 a0001c0022 a0001c0023 a0001c0031 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0034 a0002c0035 a0002c0038 a0003c0007 a0004c0011 a0006c0012 a0008c0014 a0009c0027 a0009c0028 a0010c0018 a0011c0020 a0012c0033 a0012c0037 a0013c0030 a0018c0019 a0019c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0011 a0001c0015t0001 a0001c0015t0013 a0001c0016t0002 a0001c0017t0001 a0001c0022t0001 a0001c0023t0002 a0001c0031t0005 a0002c0004t0002 a0002c0004t0005 a0002c0005t0002 a0002c0005t0005 a0002c0008t0002 a0002c0008t0005 a0002c0009t0002 a0002c0034t0012 a0002c0035t0002 a0002c0038t0002 a0003c0007t0003 a0004c0011t0001 a0004c0011t0003 a0006c0012t0002 a0006c0012t0008 a0008c0014t0004 a0009c0027t0006 a0009c0028t0006 a0010c0018t0002 a0011c0020t0003 a0012c0033t0002 a0012c0037t0002 a0013c0030t0001 a0018c0019t0003 a0019c0036t0002	a0001c0001t0001g0242 a0001c0001t0001g0258 a0001c0001t0001g0268 others(199): Show a0001c0001t0001g0242 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0001t0001g0355 a0001c0001t0001g0397 a0001c0001t0002g0133 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0108 a0001c0001t0006g0282 a0001c0001t0006g0286 a0001c0001t0006g0378 a0001c0002t0001g0274 a0001c0002t0001g0283 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0398 a0001c0002t0001g0402 a0001c0002t0001g0403 a0001c0002t0001g0405 a0001c0002t0001g0407 a0001c0002t0002g0054 a0001c0002t0002g0115 a0001c0002t0002g0146 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0038 a0001c0002t0003g0052 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0084 a0001c0002t0003g0089 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0099 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0136 a0001c0002t0006g0226 a0001c0002t0008g0123 a0001c0003t0001g0003 a0001c0003t0001g0252 a0001c0003t0001g0298 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0354 a0001c0003t0001g0356 a0001c0003t0001g0380 a0001c0003t0001g0395 a0001c0003t0001g0396 a0001c0003t0001g0400 a0001c0003t0002g0050 a0001c0003t0002g0118 a0001c0003t0002g0121 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0134 a0001c0003t0003g0027 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0039 a0001c0003t0003g0041 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0044 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0063 a0001c0003t0003g0065 a0001c0003t0003g0100 a0001c0003t0003g0145 a0001c0003t0004g0055 a0001c0003t0004g0064 a0001c0003t0004g0068 a0001c0003t0004g0075 a0001c0003t0004g0076 a0001c0003t0004g0077 a0001c0003t0004g0078 a0001c0003t0004g0081 a0001c0003t0004g0083 a0001c0003t0004g0085 a0001c0003t0004g0086 a0001c0003t0004g0092 a0001c0003t0004g0107 a0001c0003t0004g0112 a0001c0003t0004g0139 a0001c0003t0004g0140 a0001c0003t0004g0142 a0001c0003t0004g0143 a0001c0003t0004g0144 a0001c0003t0005g0051 a0001c0003t0005g0113 a0001c0003t0005g0114 a0001c0003t0005g0116 a0001c0003t0005g0117 a0001c0003t0005g0119 a0001c0003t0005g0120 a0001c0003t0005g0122 a0001c0003t0005g0124 a0001c0003t0005g0129 a0001c0003t0005g0131 a0001c0003t0005g0132 a0001c0003t0006g0255 a0001c0003t0006g0270 a0001c0003t0006g0311 a0001c0003t0011g0141 a0001c0015t0001g0308 a0001c0015t0013g0281 a0001c0016t0002g0046 a0001c0016t0002g0047 a0001c0017t0001g0404 a0001c0017t0001g0410 a0001c0022t0001g0353 a0001c0023t0002g0053 a0001c0031t0005g0008 a0002c0004t0002g0149 a0002c0004t0002g0165 a0002c0004t0002g0166 a0002c0004t0002g0168 a0002c0004t0002g0171 a0002c0004t0002g0173 a0002c0004t0002g0190 a0002c0004t0002g0191 a0002c0004t0002g0196 a0002c0004t0002g0198 a0002c0004t0002g0205 a0002c0004t0002g0208 a0002c0004t0002g0212 a0002c0004t0002g0215 a0002c0004t0002g0223 a0002c0004t0005g0193 a0002c0005t0002g0147 a0002c0005t0002g0148 a0002c0005t0002g0158 a0002c0005t0002g0162 a0002c0005t0002g0177 a0002c0005t0002g0178 a0002c0005t0002g0195 a0002c0005t0002g0203 a0002c0005t0002g0214 a0002c0005t0002g0217 a0002c0005t0002g0218 a0002c0005t0002g0220 a0002c0005t0002g0221 a0002c0005t0005g0172 a0002c0005t0005g0210 a0002c0008t0002g0187 a0002c0008t0002g0204 a0002c0008t0002g0206 a0002c0008t0002g0211 a0002c0008t0005g0150 a0002c0009t0002g0153 a0002c0009t0002g0154 a0002c0009t0002g0155 a0002c0034t0012g0167 a0002c0035t0002g0169 a0002c0038t0002g0207 a0003c0007t0003g0020 a0003c0007t0003g0022 a0003c0007t0003g0023 a0003c0007t0003g0024 a0003c0007t0003g0025 a0003c0007t0003g0026 a0003c0007t0003g0138 a0004c0011t0001g0388 a0004c0011t0003g0104 a0004c0011t0003g0105 a0004c0011t0003g0137 a0006c0012t0002g0128 a0006c0012t0002g0135 a0006c0012t0008g0130 a0008c0014t0004g0040 a0009c0027t0006g0401 a0009c0028t0006g0230 a0010c0018t0002g0048 a0010c0018t0002g0049 a0011c0020t0003g0017 a0012c0033t0002g0157 a0012c0037t0002g0152 a0013c0030t0001g0236 a0018c0019t0003g0006 a0019c0036t0002g0219	203	416	0.4880	-36	c.292 others(53): Show c.2928-894_2928-859delACCTCCCGGGTTCAAGCAATTCCTGCCT CAGCCTCC		NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	8/9						chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819431	ATATATAT others(29): Show ATATATATATATATATATATATATATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18967.hp1 NA18989.hp2 others(1): Show NA18906.hp2 NA18967.hp1 NA18989.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0008 a0002c0004 a0002c0006 a0002c0008	a0002c0004t0002 a0002c0006t0002 a0002c0008t0002 a0002c0004t0002 a0002c0006t0002 a0002c0008t0002	a0002c0004t0002g0185 a0002c0004t0002g0188 a0002c0006t0002g0186 others(1): Show a0002c0004t0002g0185 a0002c0004t0002g0188 a0002c0006t0002g0186 a0002c0008t0002g0211	4	416	0.0096	-36	c.289 others(53): Show c.289+4419_290-4444delCACACACACATATATATATATATATATA TATATATA		NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9						chr19	TogoVar
NLRP5_chr19_55994726_56066810	56007869	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGCGCGTGCGCGCGTGCG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp2 HG01346.hp2 others(4): Show HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG03491.hp1 HG03654.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0046 a0003c0008 a0003c0045	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0046t0001 a0003c0008t0001 a0003c0045t0001	a0001c0001t0001g0264 a0001c0002t0001g0108 a0001c0003t0001g0263 others(4): Show a0001c0001t0001g0264 a0001c0002t0001g0108 a0001c0003t0001g0263 a0001c0046t0001g0261 a0001c0046t0001g0262 a0003c0008t0001g0265 a0003c0045t0001g0266	7	396	0.0177	-36	c.443 others(51): Show c.443-898_443-863delCGCGTGCGCGCGTGCGTGTGTGTGTGTGTG TGTGTG		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55986440	GCACTCTC others(29): Show GCACTCTCTCTCTCACACACACACTCTCTCACATACA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0000 a0000	a0000c0071 a0000c0071	a0000c0071t0037 a0000c0071t0037	a0000c0071t0037g0015 a0000c0071t0037g0015	1	350	0.0029	-36	c.304 others(55): Show c.3048-1370_3048-1335delTCTCTCTCTCACACACACACTCTCTC ACATACACAC		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NME7_chr1_169127531_169372797	169355030	TTATATAT others(29): Show TTATATATTATAGATATAATATATAATATACTATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(60): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01496.hp2 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18947.hp2 NA18950.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0002	a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 others(60): Show a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0002t0001g0091 a0001c0006t0002g0127	63	302	0.2086	-36	c.3+1 others(51): Show c.3+12642_3+12677delTATATAGTATATTATATATTATATCTATAA TATATA		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183389736	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01515.hp1 HG01517.hp2 others(1): Show HG01346.hp2 HG01515.hp1 HG01517.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0084 a0001c0001t0002 a0001c0001t0022 a0001c0001t0084	a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0022g0240 others(1): Show a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0022g0240 a0001c0001t0084g0223	4	258	0.0155	-36	c.85+ others(53): Show c.85+28411_85+28446delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139596916	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03942.hp2 HG04115.hp1 others(1): Show HG02717.hp1 HG03942.hp2 HG04115.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 a0001c0001t0001 a0001c0001t0002 a0002c0006t0001	a0001c0001t0001g0194 a0001c0001t0001g0256 a0001c0001t0002g0058 others(1): Show a0001c0001t0001g0194 a0001c0001t0001g0256 a0001c0001t0002g0058 a0002c0006t0001g0254	4	322	0.0124	-36	c.110 others(55): Show c.110-17897_110-17862delTATATATATATATATATATATATATA TATATATATA		NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6						chr3	TogoVar
NMT2_chr10_15100770_15173693	15112194	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0126 a0001c0002t0010g0126	1	276	0.0036	-36	c.133 others(53): Show c.1338+566_1338+601delAAAAAAAAAAAAAATATATATATATATA TATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112198	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG02615.hp1 others(2): Show HG01109.hp1 HG02559.hp1 HG02615.hp1 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0031 a0001c0002t0032 a0001c0002t0015 a0001c0002t0031 a0001c0002t0032	a0001c0002t0015g0102 a0001c0002t0015g0123 a0001c0002t0015g0124 others(2): Show a0001c0002t0015g0102 a0001c0002t0015g0123 a0001c0002t0015g0124 a0001c0002t0031g0270 a0001c0002t0032g0101	5	276	0.0181	-36	c.133 others(53): Show c.1338+562_1338+597delAAAAAAAAAAAAAAAAAATATATATATA TATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NOC4L_chr12_132139457_132157468	132143818	CGGCGCCT others(29): Show CGGCGCCTCCTCGCTGCTCCCTGCGCTGGGCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01167.hp1 others(11): Show HG00673.hp2 HG00741.hp1 HG01167.hp1 HG01243.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18971.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0027 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0027t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0156 a0001c0003t0001g0014 a0001c0003t0001g0147 a0001c0004t0001g0007 a0001c0027t0001g0146 a0002c0002t0001g0006 a0002c0002t0003g0186	14	294	0.0476	-36	c.-67 others(45): Show c.-670_-635delGGCGCCTCCTCGCTGCTCCCTGCGCTGGGCTCCCCT		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding					638		chr12	TogoVar

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