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
MYDGF_chr19_4652545_4675342	4663576	C C	CAGCCTCC others(34): Show CAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCATTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp1 HG02572.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0108 a0002c0002t0002g0096 a0002c0002t0002g0108	2	410	0.0049	41	c.287 others(58): Show c.287+1299_287+1300insAGAATGAGGGTGGGGTGGGTGGGGAGGG TAGATTGGAGGCT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663576	C C	CAGCCTCC others(34): Show CAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 NA19030.hp2 HG02451.hp2 HG02970.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0062 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0062	3	410	0.0073	41	c.287 others(58): Show c.287+1299_287+1300insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663597	C C	CCCACCCC others(34): Show CCCACCCCATCCTCATTCTACAGCCTCCAACCTGTGCACTCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02965.hp2 HG01361.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0280 a0001c0001t0001g0256 a0001c0001t0001g0280	2	410	0.0049	41	c.287 others(58): Show c.287+1278_287+1279insAGAGTGCACAGGTTGGAGGCTGTAGAAT GAGGATGGGGTGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYH10_chr17_8469224_8635725	8597305	C C	CAAGAAAG others(34): Show CAAGAAAGAAAGAAAAGAAAGGAGAAGAAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18941.hp1 NA18960.hp1 others(2): Show HG01361.hp2 NA18941.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0017 a0001c0001t0001 a0001c0001t0003 a0001c0002t0017	a0001c0001t0001g0143 a0001c0001t0001g0182 a0001c0001t0001g0215 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0182 a0001c0001t0001g0215 a0001c0001t0003g0204 a0001c0002t0017g0205	5	274	0.0183	41	c.502 others(58): Show c.502+7480_502+7520dupCTCTTTCTTTCTTTTCTTCTCCTTTCTT TTCTTTCTTTCTT	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	3/42			chr17	TogoVar
MYH13_chr17_10295865_10378006	10297699	G G	GTGATGAT others(34): Show GTGATGATGGTGATGGTGGTGATCTTGAGAAGGTGGTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0089 a0001c0089	a0001c0089t0001 a0001c0089t0001	a0001c0089t0001g0184 a0001c0089t0001g0184	1	382	0.0026	41	c.32 others(52): Show c.3251_*3252insTCACCACCACCTTCTCAAGATCACCACCATCACC ATCATCA	MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding		3165		chr17	TogoVar
MYH14_chr19_50198622_50315540	50250250	G G	GCCACCAC others(34): Show GCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGTCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01081.hp2 others(11): Show HG00280.hp1 HG00642.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02965.hp1 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0015 a0001c0041 a0001c0079 others(7): Show a0001c0015 a0001c0041 a0001c0079 a0001c0080 a0001c0090 a0001c0115 a0001c0116 a0002c0053 a0007c0073 a0007c0074	a0001c0015t0001 a0001c0015t0002 a0001c0041t0002 others(8): Show a0001c0015t0001 a0001c0015t0002 a0001c0041t0002 a0001c0079t0003 a0001c0080t0003 a0001c0090t0001 a0001c0115t0001 a0001c0116t0001 a0002c0053t0001 a0007c0073t0001 a0007c0074t0002	a0001c0015t0001g0017 a0001c0015t0001g0131 a0001c0015t0001g0179 others(11): Show a0001c0015t0001g0017 a0001c0015t0001g0131 a0001c0015t0001g0179 a0001c0015t0001g0182 a0001c0015t0002g0116 a0001c0041t0002g0136 a0001c0079t0003g0170 a0001c0080t0003g0251 a0001c0090t0001g0056 a0001c0115t0001g0187 a0001c0116t0001g0297 a0002c0053t0001g0032 a0007c0073t0001g0198 a0007c0074t0002g0140	14	298	0.0470	41	c.165 others(58): Show c.1657-225_1657-224insACCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGTC	MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	14/42		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYL5_chr4_669542_687028	681595	C C	CCGCCGCC others(34): Show CCGCCGCCCCGCCCCCTCCAGCGCCGCCCCGCCCCCCTCCAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	412	0.0024	41	c.421 others(56): Show c.421-263_421-262insCTCCAGCGCCGCCCCGCCCCCTCCAGCGCC GCCCCGCCCCC	MYL5	ENSG00000215375.7	transcript	ENST00000400159.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYL9_chr20_36536519_36556447	36555856	G G	GGGGGTAG others(34): Show GGGGGTAGGGTGTGCTCGGTTAAGGACATTGTCTTTGCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	404	0.0025	41	c.66 others(52): Show c.6607_*6608insGGGGTAGGGTGTGCTCGGTTAAGGACATTGTCTT TGCTGCA	MYL9	ENSG00000101335.10	transcript	ENST00000279022.7	protein_coding		4410		chr20	TogoVar
MYMX_chr6_44211926_44223234	44219056	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0002 a0005c0005t0002g0002	1	434	0.0023	41	c.13 others(52): Show c.1330_*1331insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	MYMX	ENSG00000262179.3	transcript	ENST00000573382.3	protein_coding		823		chr6	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0151 a0002c0001t0001g0151	1	312	0.0032	41	c.194 others(58): Show c.1949+324_1949+325insAAAAAAATATATATATATATATATATAT ATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0001 a0011c0029t0001	a0011c0029t0001g0140 a0011c0029t0001g0140	1	312	0.0032	41	c.194 others(58): Show c.1949+323_1949+324insTATATATATATATATATATATATATATA TATATATATATAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31			chr12	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0198 a0001c0019t0001g0198	1	302	0.0033	41	c.220 others(60): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYOF_chr10_93301429_93487334	93402040	C C	CAGATAAG others(34): Show CAGATAAGAGTTTAAGTAAGCTAGAACAATAATTCCATGATG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	240	0.0042	41	c.990 others(56): Show c.990+151_990+191dupCATCATGGAATTATTGTTCTAGCTTACTTA AACTCTTATCT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	11/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19084.hp1 HG02559.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0097 a0001c0003t0001g0035 a0001c0002t0001g0097 a0001c0003t0001g0035	2	240	0.0083	41	c.88+ others(56): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOM3_chr1_24051041_24117135	24067391	C C	CTTTCTTT others(34): Show CTTTCTTTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0178 a0003c0003t0001g0178	1	364	0.0028	41	c.335 others(58): Show c.3356-304_3356-303insAAAGAAAGAAAGAAGGAAAGAAAGAAAG AAAGAGAAAGAAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYRFL_chr12_69820227_69964097	69877023	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0265	1	322	0.0031	41	c.138 others(58): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40218598	C C	CACACACA others(34): Show CACACACACACACATATATATATATATTTTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0060 a0007c0018t0001g0060	1	170	0.0059	41	c.190 others(60): Show c.1905+8506_1905+8507insCACACACACACATATATATATATATT TTATATATATATATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18970.hp1 HG02615.hp2 NA18970.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0024 a0002c0002t0002 a0004c0004t0024	a0002c0002t0002g0123 a0004c0004t0024g0031 a0002c0002t0002g0123 a0004c0004t0024g0031	2	410	0.0049	41	c.68+ others(56): Show c.68+1882_68+1883insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18990.hp2 NA18953.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0269 a0001c0001t0019g0271 a0001c0001t0019g0269 a0001c0001t0019g0271	2	410	0.0049	41	c.68+ others(56): Show c.68+1882_68+1883insATAAATAAATAAATAAATATATATATATAT ATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	410	0.0024	41	c.68+ others(56): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1_chr20_64159452_64247253	64174530	C C	CCTGTAGC others(34): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	223	0.0045	41	c.-99 others(58): Show c.-99+9793_-99+9794insGTAGCATCTTTCCTAGTTGTGTCCATTT CCCCTCCCTGGCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64179063	G G	GGATACCC others(34): Show GGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCAGTGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01496.hp2 others(11): Show HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01516.hp2 HG01978.hp2 HG02129.hp2 HG02602.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp2 NA18971.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0004c0009	a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 a0001c0002t0018 a0001c0003t0007 a0001c0004t0004 a0001c0006t0001 a0004c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0016g0039 others(11): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0016g0039 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0018g0035 a0001c0003t0007g0217 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0006t0001g0036 a0004c0009t0001g0041 a0004c0009t0001g0042	14	223	0.0628	41	c.-98 others(60): Show c.-98-10965_-98-10964insCAGTGAGATACCCTTCAACGTGGGAG CACTGAGCCGTTATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64179063	G G	GGATACCC others(34): Show GGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG02647.hp1 others(5): Show HG01884.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG03209.hp2 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0002t0002 a0001c0004t0004	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0021 others(5): Show a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0021 a0001c0001t0008g0016 a0001c0001t0010g0009 a0001c0001t0013g0011 a0001c0002t0002g0010 a0001c0004t0004g0013	8	223	0.0359	41	c.-98 others(60): Show c.-98-10965_-98-10964insCGGTGAGATACCCTTCAACGTGGGAG CACTGAGCCGTTATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64179099	T T	TGGTGAGA others(34): Show TGGTGAGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18612.hp1 NA19043.hp1 HG02040.hp2 NA18612.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0013 a0001c0006t0015 a0001c0001t0001 a0001c0001t0013 a0001c0006t0015	a0001c0001t0001g0023 a0001c0001t0013g0022 a0001c0006t0015g0024 a0001c0001t0001g0023 a0001c0001t0013g0022 a0001c0006t0015g0024	3	223	0.0135	41	c.-98 others(60): Show c.-98-10947_-98-10946insCGTGGGAGCACTGAGCCGTTATTCGG TGAGATACCCTTCAA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
N4BP1_chr16_48533726_48615180	48613012	C C	CCTATTCC others(34): Show CCTATTCCATTCCCCAGCGGGGCCAAGTGTGGAGGAACATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0142 a0001c0001t0017g0142	1	324	0.0031	41	c.-30 others(52): Show c.-3081_-3041dupACATGTTCCTCCACACTTGGCCCCGCTGGGGAAT GGAATAG	N4BP1	ENSG00000102921.8	transcript	ENST00000262384.4	protein_coding		2833		chr16	TogoVar
NAALADL2_chr3_174854334_175815548	174962371	C C	CATATATA others(34): Show CATATATATATATATATATATGTCATAGTCACTATGACATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0038 a0003c0007t0038	a0003c0007t0038g0063 a0003c0007t0038g0063	1	64	0.0156	41	c.43+ others(60): Show c.43+102941_43+102942insGTCATAGTCACTATGACATATATATA TATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	394	0.0025	41	c.46 others(52): Show c.4671_*4672insTATATATATATATATATATATATATATTTTTTTT TTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(34): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03209.hp1 HG02886.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0005 a0001c0001t0015g0044 a0001c0001t0005g0005 a0001c0001t0015g0044	2	394	0.0051	41	c.46 others(52): Show c.4671_*4672insTATATATATATATATATATATATTTTTTTTTTTT TTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(34): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	394	0.0025	41	c.46 others(52): Show c.4671_*4672insTATATATATATATATATATATTTTTTTTTTTTTT TTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(34): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	394	0.0025	41	c.46 others(52): Show c.4671_*4672insTATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0114 a0001c0001t0079g0114	1	128	0.0078	41	c.916 others(60): Show c.916-43308_916-43307insATATATATATATATATATATATATAT ATATTTTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0076 a0001c0002t0014g0076	1	128	0.0078	41	c.916 others(60): Show c.916-43308_916-43307insATATATATATATATATATATATATAT ATATATTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAT8L_chr4_2054327_2074089	2059005	G G	GCGTGGAG others(34): Show GCGTGGAGCGGGGGGCGGGCGGGCGCGCCCATCACGCGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	41	c.-50 others(50): Show c.-507_-506insCGTGGAGCGGGGGGCGGGCGGGCGCGCCCATCACGC GCGCC	NAT8L	ENSG00000185818.8	transcript	ENST00000423729.3	protein_coding		321		chr4	TogoVar
NAV2_chr11_19707837_20126601	19897886	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0145 a0002c0013t0001g0145	1	166	0.0060	41	c.931 others(58): Show c.931+5292_931+5293insATATATATATATATATATATATATATAT ATATATATATATA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37			chr11	TogoVar
NCAPD2_chr12_6489102_6536955	6518504	G G	GTTTTTGT others(34): Show GTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02280.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0285 a0001c0001t0002g0286	2	432	0.0046	41	c.158 others(58): Show c.1589+550_1589+551insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCMAP_chr1_24551087_24614328	24604649	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp2 HG02572.hp1 others(3): Show HG01099.hp2 HG01884.hp2 HG02572.hp1 HG02970.hp1 NA18522.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0031 a0002c0002t0004 a0002c0002t0031	a0002c0002t0004g0016 a0002c0002t0004g0023 a0002c0002t0004g0029 others(3): Show a0002c0002t0004g0016 a0002c0002t0004g0023 a0002c0002t0004g0029 a0002c0002t0004g0201 a0002c0002t0004g0389 a0002c0002t0031g0024	6	402	0.0149	41	c.168 others(56): Show c.168-957_168-956insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATAAAAA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3			chr1	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(34): Show TATATATATATATATATACACACACACACACACACACACATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0313 a0001c0001t0003g0313	1	316	0.0032	41	c.-99 others(58): Show c.-99+9537_-99+9538insATATATATATATATATACACACACACAC ACACACACACATA	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22			chr20	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(34): Show TATATATATATATATATATATACACACACACATACACATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	316	0.0032	41	c.-99 others(58): Show c.-99+9537_-99+9538insATATATATATATATATATATACACACAC ACATACACATATA	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22			chr20	TogoVar
NCOR1_chr17_16024157_16220534	16077510	G G	GGGGGAGG others(34): Show GGGGGAGGAGGGGGAGGGGGGAGGAGGGGGAGGGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0260 a0001c0001t0004g0260	1	282	0.0036	41	c.350 others(60): Show c.3502-1809_3502-1808insTCCTCCCCCCCTCCCCCTCCTCCCCC CTCCCCCTCCTCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	26/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16077516	A A	AGGAGAGG others(34): Show AGGAGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGGGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	282	0.0036	41	c.350 others(60): Show c.3502-1815_3502-1814insCTCCCCTCTCCTCCCCTCTCCTCCCC TCTCCTCCCCTCTCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	26/45			chr17	TogoVar
NCOR2_chr12_124319415_124572612	124468839	C C	CATCATCC others(34): Show CATCATCCTCATCACCCCCATCATCCTCATCCTCATCACCCT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp2 NA19012.hp1 NA19012.hp2	a0005 a0027 a0005 a0027	a0005c0139 a0027c0111 a0005c0139 a0027c0111	a0005c0139t0040 a0027c0111t0004 a0005c0139t0040 a0027c0111t0004	a0005c0139t0040g0212 a0027c0111t0004g0042 a0005c0139t0040g0212 a0027c0111t0004g0042	2	234	0.0086	41	c.592 others(58): Show c.592-2554_592-2553insAGGGTGATGAGGATGAGGATGATGGGGG TGATGAGGATGAT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48			chr12	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18962.hp1 NA18994.hp2 HG04228.hp2 NA18962.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0057	3	196	0.0153	41	c.594 others(56): Show c.594+337_594+338insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17			chr1	TogoVar
NDEL1_chr17_8430884_8473163	8432347	A A	ATATATAT others(34): Show ATATATATATATTATATATAAATATATATATATATATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00673.hp1 others(10): Show HG00438.hp1 HG00609.hp1 HG00673.hp1 HG01257.hp2 HG02523.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18963.hp1 NA18977.hp2 NA18993.hp1 NA19011.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0138 a0001c0001t0002g0156 others(9): Show a0001c0001t0002g0037 a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0002g0212	13	382	0.0340	41	c.-37 others(52): Show c.-3711_-3710insTATATATATATTATATATAAATATATATATATAT ATATTAT	NDEL1	ENSG00000166579.16	transcript	ENST00000334527.12	protein_coding		3536		chr17	TogoVar
NDST3_chr4_118029486_118263634	118257012	A A	ACAAAGAT others(34): Show ACAAAGATGAGCAAGTCATGCTCTTGAAATATATTTACATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0183 a0001c0001t0008g0183	1	216	0.0046	41	c.13 others(52): Show c.1304_*1344dupAGATGAGCAAGTCATGCTCTTGAAATATATTTAC ATTTCAA	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	14/14	1345	INFO_REALIGN_3_PRIME	chr4	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	360	0.0028	41	c.379 others(58): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4			chr16	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	400	0.0025	41	c.490 others(58): Show c.490-2512_490-2511insAAAAAAAAAAAAATATATATATATATAT ATATATATATATA	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(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19083.hp1 NA19076.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0177 a0001c0001t0003g0158 a0001c0001t0003g0177	2	400	0.0050	41	c.490 others(58): Show c.490-2512_490-2511insAAAAAAAAAAATATATATATATATATAT ATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4L_chr18_58039226_58406539	58082102	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	118	0.0085	41	c.48+ others(58): Show c.48+37395_48+37396insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58170684	G G	GGGACAGA others(34): Show GGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0070 a0001c0001t0024g0070	1	118	0.0085	41	c.122 others(58): Show c.122+4863_122+4864insAGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58170794	A A	ACCCCAGC others(34): Show ACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0004 a0001c0001t0013g0004	1	118	0.0085	41	c.122 others(58): Show c.122+4973_122+4974insGCCCCAGCCCAAGAGGACAGAACACTGC TGCCCGCCTCATC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar

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