Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NDUFA11_chr19_5889675_5908790	5907610	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00609.hp1 others(42): Show HG00099.hp2 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01109.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02083.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02630.hp1 HG02922.hp1 HG03139.hp2 HG03195.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp2 NA18967.hp2 NA18970.hp2 NA18987.hp2 NA19005.hp2 NA19009.hp1 NA19056.hp1 NA19065.hp1 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0105	45	364	0.1236	23	c.-39 others(34): Show c.-3925_-3903dupTTTTTTTTTTTTTTTTTTTTTTT	NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding		3821		chr19	TogoVar
NDUFA11_chr19_5889675_5908790	5907610	T T	TAGAAAAA others(16): Show TAGAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	23	c.-39 others(34): Show c.-3903_-3902insTTTTTTTTTTTTTTTTTTTTTCT	NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding		3821		chr19	TogoVar
NDUFA12_chr12_94966333_95008697	94993624	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	442	0.0023	23	c.257 others(38): Show c.257+523_257+545dupTTTTTTTTTTTTTTTTTTTTTTT	NDUFA12	ENSG00000184752.14	transcript	ENST00000327772.7	protein_coding	3/3			chr12	TogoVar
NDUFA13_chr19_19511225_19533198	19531718	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	380	0.0026	23	c.35 others(34): Show c.3592_*3593insTTTTTTTTTTTTTTTTTTTTTTT	NDUFA13	ENSG00000186010.19	transcript	ENST00000507754.9	protein_coding		3521		chr19	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp1 HG03239.hp1 others(6): Show HG00673.hp1 HG02015.hp1 HG03239.hp1 HG03704.hp1 NA18612.hp1 NA18968.hp2 NA18999.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0121 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0121 a0001c0001t0001g0145 a0001c0001t0001g0207 a0001c0001t0001g0214	9	360	0.0250	23	c.379 others(40): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTT	NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4			chr16	TogoVar
NDUFAF2_chr5_60940205_61158026	61040286	A A	ACACACGC others(16): Show ACACACGCGCGCGCGCGCGCGCAG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	266	0.0038	23	c.128 others(42): Show c.128-32838_128-32837insACACGCGCGCGCGCGCGCGCAGC	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFAF2_chr5_60940205_61158026	61056919	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	266	0.0038	23	c.128 others(42): Show c.128-16205_128-16204insAAAAAAAAATATATATATATATA	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFAF8_chr17_81234318_81246310	81243736	A A	ATGAAGGA others(16): Show ATGAAGGACAGAAATGACCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	23	c.27 others(34): Show c.2720_*2721insTGAAGGACAGAAATGACCAGGAC	NDUFAF8	ENSG00000224877.4	transcript	ENST00000431388.3	protein_coding		2427		chr17	TogoVar
NDUFB11_chrX_47137216_47149702	47144446	A A	ACCCCCCC others(16): Show ACCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	274	0.0037	23	c.207 others(36): Show c.207+26_207+27insGGGGGGGGGGGGGGGGGGGGGGG	NDUFB11	ENSG00000147123.12	transcript	ENST00000377811.4	protein_coding	1/2			chrX	TogoVar
NDUFC2_chr11_78063297_78084862	78078728	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02280.hp1 others(4): Show HG01891.hp2 HG02145.hp1 HG02280.hp1 HG03486.hp2 HG03579.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0003g0024 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0003g0024 a0001c0001t0003g0162 a0001c0001t0015g0163	7	420	0.0167	23	c.166 others(38): Show c.166+850_166+851insAAAAAAAAAAAAAAAAAAAAAAA	NDUFC2	ENSG00000151366.13	transcript	ENST00000281031.5	protein_coding	1/2			chr11	TogoVar
NDUFS1_chr2_206109817_206164444	206122629	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03195.hp1 HG02896.hp1 HG02897.hp2 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0080 a0001c0006t0029 a0001c0006t0080	a0001c0006t0029g0034 a0001c0006t0029g0035 a0001c0006t0080g0033 a0001c0006t0029g0034 a0001c0006t0029g0035 a0001c0006t0080g0033	3	336	0.0089	23	c.15 others(34): Show c.1555_*1556insTTTTTTTTTTTTTTTTTTTTTTT	NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	19/19	1555		chr2	TogoVar
NDUFS2_chr1_161197367_161219395	161216203	T T	TCAGAAGG others(16): Show TCAGAAGGCTGAGGCAGGAGAATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0002	1	438	0.0023	23	c.20 others(34): Show c.2010_*2011insCAGAAGGCTGAGGCAGGAGAATC	NDUFS2	ENSG00000158864.13	transcript	ENST00000676972.1	protein_coding		1809		chr1	TogoVar
NDUFS7_chr19_1378907_1400584	1394531	C C	CGGACCGC others(16): Show CGGACCGCGCTCCTCCCTCCCTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(65): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG01081.hp1 HG01123.hp2 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02630.hp2 HG02647.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18954.hp2 NA18959.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(32): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0003g0006 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0059 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0096 a0002c0002t0001g0114 a0002c0002t0001g0163 a0002c0002t0001g0164	68	418	0.1627	23	c.545 others(38): Show c.545-837_545-815dupGGGACCGCGCTCCTCCCTCCCTG	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NDUFS7_chr19_1378907_1400584	1394555	G G	GGACCGCG others(16): Show GGACCGCGCTCCTCCCTCCCTGCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	418	0.0024	23	c.545 others(38): Show c.545-814_545-813insAGACCGCGCTCCTCCCTCCCTGC	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NDUFS7_chr19_1378907_1400584	1394588	C C	CCTCCCTC others(16): Show CCTCCCTCCTGCAGACCGCGCTCG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	418	0.0024	23	c.545 others(38): Show c.545-803_545-802insCTCCCTCCTGCAGACCGCGCTCG	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding	7/7			chr19	TogoVar
NECAB1_chr8_90786775_90964393	90922486	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01257.hp1 others(18): Show HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02004.hp2 HG02165.hp2 HG02523.hp1 HG02698.hp1 HG04184.hp1 NA18948.hp1 NA18954.hp2 NA18968.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19058.hp1 NA19068.hp1 NA19074.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0001t0027	a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 others(18): Show a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0048 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0104 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0192 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0008g0054 a0001c0001t0011g0034 a0001c0001t0011g0057 a0001c0001t0011g0061 a0001c0001t0011g0071 a0001c0001t0020g0162 a0001c0001t0027g0016	21	248	0.0847	23	c.495 others(40): Show c.495-3047_495-3025dupTTTTTTTTTTTTTTTTTTTTTTT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB2_chr16_83963244_84007776	83974748	T T	TTGGTGTG others(16): Show TTGGTGTGGGTATAGATAGGGGAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0043 a0004c0005t0043	a0004c0005t0043g0303 a0004c0005t0043g0303	1	354	0.0028	23	c.226 others(40): Show c.226+2583_226+2605dupTATAGATAGGGGAGTGGTGTGGG	NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
NECAB2_chr16_83963244_84007776	83985313	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0240 a0004c0005t0005g0240	1	354	0.0028	23	c.459 others(40): Show c.459+4197_459+4219dupAAAAAAAAAAAAAAAAAAAAAAA	NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
NECTIN2_chr19_44841297_44894223	44852334	G G	GAGACGGG others(16): Show GAGACGGGCTCTCACCGTGTTGCC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	372	0.0027	23	c.88+ others(38): Show c.88+5722_88+5744dupAGACGGGCTCTCACCGTGTTGCC	NECTIN2	ENSG00000130202.10	transcript	ENST00000252483.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
NEDD1_chr12_96902257_96958780	96932457	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19068.hp1 NA19089.hp1 HG02615.hp1 NA19068.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0024g0056 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0024g0056	3	400	0.0075	23	c.490 others(40): Show c.490-2519_490-2518insTATATATATATATATATATATAT	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15			chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932459	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02602.hp2 HG00140.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0139 a0001c0001t0002g0124 a0001c0001t0002g0139	2	400	0.0050	23	c.490 others(40): Show c.490-2517_490-2516insTATATATATATATATATATATAT	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15			chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932461	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	400	0.0025	23	c.490 others(40): Show c.490-2515_490-2514insTATATATATATATATATATATAT	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15			chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0330 a0001c0001t0006g0330	1	400	0.0025	23	c.490 others(40): Show c.490-2512_490-2511insAAAAAAAAAAAAAAATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0388 a0001c0001t0001g0388	1	400	0.0025	23	c.490 others(40): Show c.490-2512_490-2511insAAAAAAAAAAATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0380 a0001c0001t0001g0380	1	400	0.0025	23	c.490 others(40): Show c.490-2512_490-2511insAAAAAAAAATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	1	400	0.0025	23	c.490 others(40): Show c.490-2512_490-2511insAAAAAAATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4_chr15_55821922_55998612	55839999	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0286 a0002c0005t0004g0286	1	344	0.0029	23	c.203 others(40): Show c.2031+447_2031+448insATATATATATATATATATATTTT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28			chr15	TogoVar
NEGR1_chr1_71390943_72287539	71560429	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	64	0.0156	23	c.940 others(42): Show c.940+32387_940+32388insTATATATATATATATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	6/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71988923	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	64	0.0156	23	c.177 others(42): Show c.177-53635_177-53613dupTTTTTTTTTTTTTTTTTTTTTTT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	72143913	T T	TGATATAT others(16): Show TGATATATATAATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	64	0.0156	23	c.176 others(44): Show c.176+138405_176+138406insTATATATATATATTATATATATC	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEIL3_chr4_177304874_177367936	177348858	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0347 a0002c0002t0005g0347	1	408	0.0025	23	c.870 others(40): Show c.870-2517_870-2495dupTTTTTTTTTTTTTTTTTTTTTTT	NEIL3	ENSG00000109674.4	transcript	ENST00000264596.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
NEK10_chr3_27101484_27374383	27282548	A A	ATATATAT others(16): Show ATATATATATATACATAACTGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0219 a0001c0010t0002g0219	1	234	0.0043	23	c.201 others(42): Show c.2014+2031_2014+2053dupACACAGTTATGTATATATATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEK10_chr3_27101484_27374383	27282640	T T	TTATATAT others(16): Show TTATATATATATACATAACTGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	234	0.0043	23	c.201 others(42): Show c.2014+1961_2014+1962insACACAGTTATGTATATATATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEK10_chr3_27101484_27374383	27282682	T T	TTATATAT others(16): Show TTATATATATACATAACTGTGTTA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19086.hp2 NA18947.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0143 a0001c0002t0002g0140 a0001c0002t0002g0143	2	234	0.0086	23	c.201 others(42): Show c.2014+1897_2014+1919dupTAACACAGTTATGTATATATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEK10_chr3_27101484_27374383	27331262	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01517.hp1 others(2): Show HG00738.hp2 HG01074.hp2 HG01517.hp1 HG02055.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0118 a0001c0002t0003g0121 others(2): Show a0001c0002t0003g0038 a0001c0002t0003g0118 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0127	5	234	0.0214	23	c.363 others(40): Show c.363-9002_363-9001insGTTTTTTTTTTTTTTTTTTTTTT	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	5/35			chr3	TogoVar
NEK3_chr13_52127647_52164597	52160452	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0039 a0003c0004t0003g0039	1	398	0.0025	23	c.-96 others(32): Show c.-968_-967insATATATTTTTTTTTTTTTTTTTT	NEK3	ENSG00000136098.18	transcript	ENST00000610828.5	protein_coding		856		chr13	TogoVar
NEK4_chr3_52703444_52775940	52752917	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18947.hp1 NA19012.hp1 others(1): Show HG02155.hp2 NA18947.hp1 NA19012.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0028	a0002c0002t0002g0211 a0002c0002t0004g0243 a0002c0002t0010g0213 others(1): Show a0002c0002t0002g0211 a0002c0002t0004g0243 a0002c0002t0010g0213 a0002c0002t0028g0212	4	318	0.0126	23	c.964 others(38): Show c.964-582_964-581insATATATTTTTTTTTTTTTTTTTT	NEK4	ENSG00000114904.13	transcript	ENST00000233027.10	protein_coding	6/15			chr3	TogoVar
NEK4_chr3_52703444_52775940	52752917	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02135.hp1 HG02293.hp2 others(3): Show HG01993.hp1 HG02135.hp1 HG02293.hp2 NA18967.hp1 NA18977.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0031 a0002c0002t0002 a0002c0002t0031	a0002c0002t0002g0183 a0002c0002t0002g0187 a0002c0002t0002g0190 others(3): Show a0002c0002t0002g0183 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0207 a0002c0002t0002g0270 a0002c0002t0031g0185	6	318	0.0189	23	c.964 others(38): Show c.964-582_964-581insATATATATTTTTTTTTTTTTTTT	NEK4	ENSG00000114904.13	transcript	ENST00000233027.10	protein_coding	6/15			chr3	TogoVar
NEK4_chr3_52703444_52775940	52752917	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18992.hp1 NA19006.hp2 others(1): Show NA18979.hp2 NA18992.hp1 NA19006.hp2 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0200 a0002c0002t0002g0247 a0002c0002t0002g0251 others(1): Show a0002c0002t0002g0200 a0002c0002t0002g0247 a0002c0002t0002g0251 a0002c0002t0004g0181	4	318	0.0126	23	c.964 others(38): Show c.964-582_964-581insATATATATATTTTTTTTTTTTTT	NEK4	ENSG00000114904.13	transcript	ENST00000233027.10	protein_coding	6/15			chr3	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0049	1	88	0.0114	23	c.604 others(40): Show c.604-2464_604-2463insATATATATATATATATATATATT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	88	0.0114	23	c.604 others(40): Show c.604-2464_604-2463insATATATATATATATATTTTTTTT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915718	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	88	0.0114	23	c.604 others(40): Show c.604-2464_604-2463insATATATATATATATATATATATA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19			chr11	TogoVar
NELL1_chr11_20664586_21580686	21468144	A A	ATTGAAGA others(16): Show ATTGAAGATTCAGTTTATTATTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0077 a0008c0021t0001g0077	1	88	0.0114	23	c.164 others(44): Show c.1646-66229_1646-66207dupTTGAAGATTCAGTTTATTATTCC	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	158	0.0063	23	c.166 others(44): Show c.1663+19884_1663+19885insATATATATATATTTTTTTTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NEMF_chr14_49777083_49857788	49806256	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	222	0.0045	23	c.174 others(40): Show c.1745-124_1745-123insATATATATATATATATATATATA	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEMF_chr14_49777083_49857788	49806257	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02040.hp2 HG02083.hp2 others(7): Show HG01952.hp2 HG02040.hp2 HG02083.hp2 HG02135.hp2 HG02258.hp2 HG02922.hp1 NA18983.hp1 NA18994.hp2 NA19056.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0008 a0001c0001 a0001c0011 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0003c0008t0001	a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0002g0011 a0001c0001t0002g0166 a0001c0011t0001g0085 a0003c0008t0001g0142	10	222	0.0451	23	c.174 others(40): Show c.1745-125_1745-124insTATATATATATATATATATATAT	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02922.hp2 HG04184.hp1 HG00558.hp2 HG02922.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0234 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0234	3	324	0.0093	23	c.209 others(42): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73279351	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0111 a0001c0023t0003g0111	1	324	0.0031	23	c.326 others(42): Show c.3262+1167_3262+1168insTTTTTTTTTTTTTTTTTTTTTTT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEURL3_chr2_96492646_96510357	96504877	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18995.hp2 NA18979.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	394	0.0051	23	c.28+ others(36): Show c.28+359_28+381dupTTTTTTTTTTTTTTTTTTTTTTT	NEURL3	ENSG00000163121.10	transcript	ENST00000451794.6	protein_coding	1/3			chr2	TogoVar
NEXMIF_chrX_74727856_74930452	74796209	T T	TTATATAT others(16): Show TTATATATATATACATATATAATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp1 others(39): Show HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02080.hp1 HG02145.hp1 HG02451.hp1 HG02602.hp1 HG02738.hp1 HG02818.hp1 HG02896.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp1 NA19011.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0013 a0007c0010 a0001c0001 a0001c0013 a0007c0010	a0001c0001t0002 a0001c0001t0029 a0001c0001t0030 others(5): Show a0001c0001t0002 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0013t0001 a0007c0010t0001	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 others(39): Show a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0223 a0001c0001t0029g0172 a0001c0001t0030g0004 a0001c0001t0031g0126 a0001c0001t0032g0145 a0001c0001t0033g0130 a0001c0013t0001g0143 a0007c0010t0001g0180	42	224	0.1875	23	c.-47 others(42): Show c.-47-50535_-47-50513dupTATTATATATGTATATATATATA	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar

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