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
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTATTTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01981.hp1 HG02615.hp1 others(3): Show HG01515.hp1 HG01981.hp1 HG02615.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0013 a0001c0001 a0002c0002 a0003c0013	a0001c0001t0001 a0002c0002t0001 a0003c0013t0001 a0001c0001t0001 a0002c0002t0001 a0003c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0077 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0077 a0001c0001t0001g0102 a0002c0002t0001g0162 a0003c0013t0001g0071	6	234	0.0256	25	c.590 others(42): Show c.5902+800_5902+801insATTTATTTATTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01433.hp1 HG02135.hp1 others(3): Show HG01081.hp2 HG01433.hp1 HG02135.hp1 HG02293.hp1 NA18983.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0004t0001g0137 a0001c0004t0001g0197 a0002c0002t0001g0191	6	234	0.0256	25	c.590 others(42): Show c.5902+800_5902+801insATTTATTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01993.hp1 HG02056.hp1 others(2): Show HG01516.hp2 HG01993.hp1 HG02056.hp1 NA18944.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0202 a0002c0002t0001g0115 a0002c0002t0001g0133 others(2): Show a0001c0004t0001g0202 a0002c0002t0001g0115 a0002c0002t0001g0133 a0002c0002t0001g0143 a0002c0002t0001g0178	5	234	0.0214	25	c.590 others(42): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(18): Show ATTTTTTTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	234	0.0043	25	c.590 others(42): Show c.5902+804_5902+805insATTTTTTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	234	0.0043	25	c.590 others(42): Show c.5902+798_5902+822dupTTTTTTTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183121915	T T	TATTATTA others(18): Show TATTATTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	402	0.0025	25	c.-25 others(36): Show c.-2543_-2542insATTATTATTATTATTATTATTATTA		NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding					2527		chr2	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	402	0.0025	25	c.397 others(42): Show c.397+4647_397+4648insATATATATATATATATATATATTTT		NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP54_chr4_76109664_76153397	76125827	G G	GGGGAGAG others(18): Show GGGGAGAGAGGGAGAAGGGGAGGAGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	370	0.0027	25	c.105 others(44): Show c.1057-1072_1057-1071insTCTCCTCCCCTTCTCCCTCTCTCCC		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11						chr4	TogoVar
NUP93_chr16_56725129_56855286	56739617	C C	CAGAGGGG others(18): Show CAGAGGGGCTCCTCACTTCCCAGTAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	378	0.0027	25	c.-14 others(42): Show c.-14-8617_-14-8616insAGAGGGGCTCCTCACTTCCCAGTAG		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21						chr16	TogoVar
NUP93_chr16_56725129_56855286	56808153	T T	TTTTATAT others(18): Show TTTTATATAGTTACATAACTATATAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0230	1	378	0.0027	25	c.489 others(42): Show c.489+2521_489+2522insTTTATATAGTTACATAACTATATAA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21						chr16	TogoVar
NUP93_chr16_56725129_56855286	56808153	T T	TTTTATAT others(18): Show TTTTATATAGTTATATAACTATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00733.hp1 others(16): Show HG00408.hp2 HG00597.hp2 HG00733.hp1 HG01175.hp1 HG01978.hp2 NA18941.hp1 NA18945.hp2 NA18959.hp2 NA18967.hp2 NA18972.hp2 NA18989.hp2 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19077.hp1 NA19080.hp1 NA19083.hp2 NA19090.hp2 NA20905.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0018 a0009c0015 a0001c0001 a0008c0018 a0009c0015	a0001c0001t0004 a0001c0001t0035 a0008c0018t0004 others(1): Show a0001c0001t0004 a0001c0001t0035 a0008c0018t0004 a0009c0015t0004	a0001c0001t0004g0198 a0001c0001t0004g0220 a0001c0001t0004g0222 others(16): Show a0001c0001t0004g0198 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0035g0227 a0008c0018t0004g0228 a0009c0015t0004g0235	19	378	0.0503	25	c.489 others(42): Show c.489+2521_489+2522insTTTATATAGTTATATAACTATATAA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21						chr16	TogoVar
NUP93_chr16_56725129_56855286	56808167	A A	ATAACTAT others(18): Show ATAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0176 a0001c0004t0008g0176	1	378	0.0027	25	c.489 others(42): Show c.489+2559_489+2560insGTAACTATATAAAATATATAGTTAT		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808180	A A	ATATATAG others(18): Show ATATATAGTTATATAACTATATATTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01169.hp2 others(1): Show HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0362 a0001c0001t0003g0366 a0001c0001t0003g0375 others(1): Show a0001c0001t0003g0362 a0001c0001t0003g0366 a0001c0001t0003g0375 a0001c0001t0003g0376	4	378	0.0106	25	c.489 others(42): Show c.489+2570_489+2571insTTTTATATAGTTATATAACTATATA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(18): Show ATAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01106.hp1 others(3): Show HG00099.hp2 HG00741.hp1 HG01106.hp1 HG01258.hp2 HG02698.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0044 a0001c0004t0008 a0001c0004t0044	a0001c0004t0008g0172 a0001c0004t0008g0173 a0001c0004t0008g0174 others(3): Show a0001c0004t0008g0172 a0001c0004t0008g0173 a0001c0004t0008g0174 a0001c0004t0008g0175 a0001c0004t0008g0177 a0001c0004t0044g0179	6	378	0.0159	25	c.489 others(42): Show c.489+2819_489+2843dupTAAAATATATAGTTATGTAACTATA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808205	A A	ATATATAG others(18): Show ATATATAGTTATATAACTATATATTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0191 a0001c0001t0016g0191	1	378	0.0027	25	c.489 others(42): Show c.489+2584_489+2585insATAACTATATATTTTATATAGTTAT		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808217	G G	GTAACTAT others(18): Show GTAACTATATAAAATATATAGTTATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	378	0.0027	25	c.489 others(42): Show c.489+2609_489+2610insATAACTATATAAAATATATAGTTAT		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808501	A A	AAATATAT others(18): Show AAATATATAGTTATGTAACTATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0274 a0001c0003t0030g0274	1	378	0.0027	25	c.489 others(42): Show c.489+2870_489+2871insATATATAGTTATGTAACTATATATA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0290 a0001c0003t0002g0290	1	342	0.0029	25	c.274 others(44): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTTTT		NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32						chr11	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	342	0.0029	25	c.184 others(42): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTTTTTTTTTT		NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32						chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	342	0.0029	25	c.173 others(44): Show c.1730+1651_1730+1675dupTTTTTTTTTTTTTTTTTTTTTTTTT		NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32						chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535555	C C	CTTTCCTT others(18): Show CTTTCCTTCTTTCTTTCTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0080 a0001c0001t0084g0080	1	368	0.0027	25	c.21 others(36): Show c.2127_*2128insAGAAAGAAAGAAAGAAAGAAGGAAA		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2463		chr16	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	374	0.0027	25	c.17- others(38): Show c.17-834_17-810dupTTTTTTTTTTTTTTTTTTTTTTTTT		NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
NWD1_chr19_16714847_16822953	16737964	C C	CGAAAAGA others(18): Show CGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA21309.hp1 HG03130.hp2 NA21309.hp1	a0008 a0034 a0008 a0034	a0008c0010 a0034c0051 a0008c0010 a0034c0051	a0008c0010t0010 a0034c0051t0002 a0008c0010t0010 a0034c0051t0002	a0008c0010t0010g0131 a0034c0051t0002g0028 a0008c0010t0010g0131 a0034c0051t0002g0028	2	300	0.0067	25	c.198 others(42): Show c.198+1239_198+1263dupAGAAAAGAAAAGAAAAGAAAAGAAA		NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16760229	C C	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02257.hp2 HG02293.hp2 others(1): Show HG01975.hp1 HG02257.hp2 HG02293.hp2 HG02451.hp2	a0001 a0009 a0032 a0001 a0009 a0032	a0001c0002 a0009c0029 a0032c0053 a0001c0002 a0009c0029 a0032c0053	a0001c0002t0005 a0001c0002t0007 a0009c0029t0002 others(1): Show a0001c0002t0005 a0001c0002t0007 a0009c0029t0002 a0032c0053t0001	a0001c0002t0005g0192 a0001c0002t0007g0041 a0009c0029t0002g0297 others(1): Show a0001c0002t0005g0192 a0001c0002t0007g0041 a0009c0029t0002g0297 a0032c0053t0001g0252	4	300	0.0133	25	c.197 others(42): Show c.1973+824_1973+848dupTTTATTTTATTTTATTTTATTTTAT		NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
NXF2B_chrX_102355395_102445008	102435129	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02004.hp2 HG02027.hp1 others(21): Show HG00673.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02135.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG03486.hp1 HG03492.hp1 HG04199.hp1 NA18946.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18985.hp1 NA18989.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19060.hp1 NA19070.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0002t0001g0020	24	54	0.4444	25	c.-54 others(42): Show c.-54+3423_-54+3424insGTTTTGTTTTGTTTTGTTTTGTTTT		NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22						chrX	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00621.hp2 others(12): Show HG00099.hp1 HG00597.hp2 HG00621.hp2 HG03239.hp2 HG03669.hp2 NA18950.hp1 NA18964.hp1 NA18972.hp1 NA18980.hp2 NA18989.hp1 NA19000.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0047	15	408	0.0368	25	c.48 others(36): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAAAAAA		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					4627		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02735.hp2 HG03453.hp1 HG01109.hp1 HG02735.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0090 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0090	3	408	0.0074	25	c.25 others(36): Show c.2531_*2532insATATATATATATATATATATATATA		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18944.hp1 HG02074.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0101 a0001c0001t0001g0003 a0001c0001t0001g0101	2	408	0.0049	25	c.25 others(36): Show c.2531_*2532insAAAAATATATATATATATATATATA		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA18954.hp1 NA18975.hp2 others(1): Show HG02615.hp1 NA18954.hp1 NA18975.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0037 a0002c0002t0002g0005 a0002c0002t0002g0019 a0001c0001t0001g0037 a0002c0002t0002g0005 a0002c0002t0002g0019	4	408	0.0098	25	c.25 others(36): Show c.2531_*2532insAAAAAAAAATATATATATATATATA		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17455721	C C	CCACGCGG others(18): Show CCACGCGGTACTTGTGGCGGCGCAGG	frameshift_variant frameshift_variant	HIGH	NA20300.hp2 NA20300.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0001 a0000c0008t0001	a0000c0008t0001g0040 a0000c0008t0001g0040	1	408	0.0025	25	c.540 others(32): Show c.540_564dupCCTGCGCCGCCACAAGTACCGCGTG	p.Glu others(5): Show p.Glu189fs	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding	2/2	621/918	564/639	188/212			chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0134 a0001c0001t0029g0134	1	242	0.0041	25	c.361 others(44): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTTTTTT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	853723	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	1	242	0.0041	25	c.361 others(44): Show c.361-27646_361-27645insAAATATATATATATATATATATATA		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	876249	G G	GAAGAAAA others(18): Show GAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	242	0.0041	25	c.361 others(44): Show c.361-50172_361-50171insTTCTTTTCTTTTCTTTTCTTTTCTT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXPH1_chr7_8428609_8757961	8461843	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	208	0.0048	25	c.54+ others(42): Show c.54+26084_54+26085insAAAAAAAAAAAAAAAAGAAAAAAAA		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8678928	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01934.hp2 HG02523.hp1 HG00639.hp1 HG01934.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0016 a0001c0001t0002g0085 a0001c0001t0015g0201 a0001c0001t0002g0016 a0001c0001t0002g0085 a0001c0001t0015g0201	3	208	0.0144	25	c.55- others(42): Show c.55-72069_55-72045dupTTTTTTTTTTTTTTTTTTTTTTTTT		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03130.hp1 HG03654.hp1 others(1): Show HG00735.hp2 HG03130.hp1 HG03654.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0100 a0001c0002t0001g0053 a0001c0002t0001g0080 others(1): Show a0001c0001t0001g0100 a0001c0002t0001g0053 a0001c0002t0001g0080 a0001c0002t0001g0240	4	350	0.0114	25	c.52- others(42): Show c.52-35430_52-35429insTTTTTTTTTTTTTTTTTTTTTTTTT		NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1						chr2	TogoVar
NYNRIN_chr14_24394003_24424283	24406201	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03017.hp1 HG03669.hp1 others(5): Show HG00408.hp1 HG03017.hp1 HG03669.hp1 HG03834.hp2 NA18962.hp2 NA18991.hp2 NA19058.hp2 NA19079.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0003 a0002c0002t0009 others(3): Show a0001c0001t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0014 a0003c0003t0003 a0003c0003t0032	a0001c0001t0002g0135 a0002c0002t0003g0037 a0002c0002t0009g0127 others(5): Show a0001c0001t0002g0135 a0002c0002t0003g0037 a0002c0002t0009g0127 a0002c0002t0009g0183 a0002c0002t0009g0224 a0002c0002t0014g0037 a0003c0003t0003g0148 a0003c0003t0032g0132	8	450	0.0178	25	c.199 others(42): Show c.199-1641_199-1617dupAAATAAAATAAAATAAAATAAAATA		NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
OAF_chr11_120206032_120235334	120225839	A A	AGCAGACC others(18): Show AGCAGACCCGGCCCAGATCCCGTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02922.hp2 others(1): Show HG01109.hp1 HG02145.hp1 HG02922.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0020 a0001c0006t0004g0020	4	400	0.0100	25	c.366 others(38): Show c.366+64_366+65insGTCCCGCAGACCCGGCCCAGATCCC		OAF	ENSG00000184232.9	transcript	ENST00000328965.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
OAS2_chr12_112973519_113016723	112981935	A A	AGTTAAAT others(18): Show AGTTAAATGCATTCCTAGGTATTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18947.hp1 NA18946.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0205 a0001c0001t0002g0206	2	380	0.0053	25	c.177 others(42): Show c.177+3158_177+3182dupGCATTCCTAGGTATTTTTGTTAAAT		OAS2	ENSG00000111335.14	transcript	ENST00000392583.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
OBP2A_chr9_135541126_135554969	135544761	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03041.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0002g0128 a0002c0002t0002g0130 a0004c0004t0001g0034 a0002c0002t0002g0128 a0002c0002t0002g0130 a0004c0004t0001g0034	3	455	0.0066	25	c.-14 others(36): Show c.-1420_-1419insAAAAAAAAAAAAAAAAAAAAAAAAA		OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding					1364		chr9	TogoVar
OBSCN_chr1_228203044_228383876	228341728	A A	AGACGGCT others(18): Show AGACGGCTCAGCCAGCTGTGGCATGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0041 a0041	a0041c0026 a0041c0026	a0041c0026t0003 a0041c0026t0003	a0041c0026t0003g0296 a0041c0026t0003g0296	1	320	0.0031	25	c.209 others(44): Show c.20905+121_20905+122insCAGCCAGCTGTGGCATGGGACGGCT		OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	85/115					INFO_REALIGN_3_PRIME	chr1	TogoVar
OCA2_chr15_27749875_28104315	28069402	C C	CTCCCTCT others(18): Show CTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG03540.hp1 HG02257.hp1 HG02486.hp2 HG03540.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0027 a0002c0009 a0004c0017 a0001c0027 a0002c0009 a0004c0017	a0001c0027t0001 a0002c0009t0001 a0004c0017t0001 a0001c0027t0001 a0002c0009t0001 a0004c0017t0001	a0001c0027t0001g0030 a0002c0009t0001g0106 a0004c0017t0001g0109 a0001c0027t0001g0030 a0002c0009t0001g0106 a0004c0017t0001g0109	3	110	0.0273	25	c.227 others(44): Show c.227+12245_227+12246insAGAGGGAGAGGGAGAGGGAGAGGGA		OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23						chr15	TogoVar
OCEL1_chr19_17221226_17234219	17222799	C C	CGTGAACC others(18): Show CGTGAACCCAGGAGGCAGAGCTTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	444	0.0023	25	c.-34 others(36): Show c.-3449_-3448insGTGAACCCAGGAGGCAGAGCTTGCA		OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding					3426		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17229556	T T	TAAGGCGC others(18): Show TAAGGCGCAACAGCCGCCCATCGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	444	0.0023	25	c.63 others(34): Show c.631_*632insAAGGCGCAACAGCCGCCCATCGAAG		OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding					338		chr19	TogoVar
OCSTAMP_chr20_46535946_46555654	46542574	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02559.hp2 others(6): Show HG01884.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG03225.hp2 HG03516.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0098 a0001c0002t0002g0124 others(6): Show a0001c0002t0002g0072 a0001c0002t0002g0098 a0001c0002t0002g0124 a0001c0002t0002g0139 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0173 a0001c0002t0002g0188 a0001c0002t0002g0208	9	442	0.0204	25	c.104 others(42): Show c.1048-648_1048-647insTTTTTTTTTTTTTTTTTTTTTTTTT		OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2						chr20	TogoVar
ODAD1_chr19_48291462_48326971	48315520	G G	GGTGACAG others(18): Show GGTGACAGAGCGAGACTCCATCTCTA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	398	0.0025	25	c.360 others(42): Show c.360+2842_360+2866dupTAGAGATGGAGTCTCGCTCTGTCAC		ODAD1	ENSG00000105479.16	transcript	ENST00000674294.1	protein_coding	5/15						chr19	TogoVar
ODAD2_chr10_27807168_28004079	27924046	A A	AGAGAGAA others(18): Show AGAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0051 a0003c0004t0001g0051	1	304	0.0033	25	c.249 others(46): Show c.2495+10963_2495+10964insCTTTCTTTCTTTCTTTCTTTCTCT C		ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19						chr10	TogoVar
ODAD2_chr10_27807168_28004079	27952074	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03098.hp1 HG03209.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0267 a0010c0016t0001g0268 a0010c0016t0001g0267 a0010c0016t0001g0268	2	304	0.0066	25	c.138 others(44): Show c.1387-7113_1387-7112insTTTTTTTTTTTTTTTTTTTTTTTTT		ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	10/19						chr10	TogoVar
ODAD4_chr17_41925617_41971503	41930881	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	340	0.0029	25	c.114 others(38): Show c.114+49_114+73dupTTTTTTTTTTTTTTTTTTTTTTTTT		ODAD4	ENSG00000204815.10	transcript	ENST00000377540.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA20805.hp1 HG00438.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0016 a0001c0001t0004g0195 a0001c0001t0002g0016 a0001c0001t0004g0195	2	346	0.0058	25	c.669 others(40): Show c.669+666_669+667insAAAAAAAAATATATATATATATATA		ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr9	TogoVar

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