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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MRTFA_chr22_40405289_40641719	40501469	A A	ACCTCCCG others(94): Show ACCTCCCGGACAGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20300.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0076 a0001c0003t0001g0075 a0001c0002t0001g0076 a0001c0003t0001g0075	2	256	0.0078	101	c.242 others(120): Show c.242-38184_242-38183insGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGC CCGGCCAGCCGCCCTGTCCGGGAGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537238	T T	TGGGGGGG others(94): Show TGGGGGGGGTCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	256	0.0039	101	c.241 others(120): Show c.241+14867_241+14868insCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGG CCGGGTGGGGGGGCTGACCCCCCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537238	T T	TGGGGGGG others(94): Show TGGGGGGGTCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	256	0.0039	101	c.241 others(120): Show c.241+14867_241+14868insCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTG GCCGGGTGGGGGGGCTGACCCCCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSI2_chr17_57251523_57689689	57450253	C C	CAGAAAGA others(94): Show CAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0075 a0001c0001t0031g0075	1	168	0.0060	101	c.405 others(120): Show c.405+48782_405+48783insAGAAAGAAAGAAAGAAAGAAAGAAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13			chr17	TogoVar
MSLN_chr16_755734_773862	767546	A A	AGGGGGGA others(94): Show AGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGT GGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGC AT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	388	0.0026	101	c.159 others(116): Show c.1596+82_1596+83insAGCGTGGGGGGCGTGGAGGAGGGGCGCGTG GAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGC GTGGGGGGGGCGCATGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767948	G G	GGGGGGCG others(94): Show GGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGCGTGGGGG GGCACGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTG GA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0265 a0004c0006t0001g0265	1	388	0.0026	101	c.159 others(118): Show c.1597-430_1597-429insGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGTGCGTGGGGGGGCACGTGGAGGGGGGGCGTGTGGGGGGGT GCGTGGAGGAGGGGCGCGTGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(94): Show ATATATATAAAATCTTATTTTATACATATTTTATATATATTTTATATATA TAAAATCTTTATATATATTTTATATATATAAAATCTTACTTTATATATAT TT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0044 a0001c0001t0014g0044	1	330	0.0030	101	c.-5+ others(116): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGATTTTATATATATAAAATATATATAAAATATGTA TAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(94): Show ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATTTTATATATATAAAATCTTTATATATAT TT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp1 HG01891.hp2 HG03130.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0068 a0001c0011t0008g0069 a0001c0011t0008g0068 a0001c0011t0008g0069	2	330	0.0061	101	c.-5+ others(116): Show c.-5+3002_-5+3003insAAATATATATAAAGATTTTATATATATAAA ATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATA TAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUC17_chr7_101015081_101063859	101018217	T T	TTCCCTTC others(94): Show TTCCCTTCCCCCTGGGACTCCCTCCCTCCCCCTGGGACCCCTTCCCTTCC CCCTGGGACTCCCTCCTCCCCCTGGGACCCCTTCCCTTCCCCAGGGACTC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0160 a0005c0021t0001g0160	1	366	0.0027	101	c.-19 others(112): Show c.-1919_-1918insTCCCTTCCCCCTGGGACTCCCTCCCTCCCCCTGG GACCCCTTCCCTTCCCCCTGGGACTCCCTCCTCCCCCTGGGACCCCTTCC CTTCCCCAGGGACTCCC	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding		1863		chr7	TogoVar
MUSK_chr9_110663791_110811558	110690167	A A	AATATATA others(94): Show AATATATAAATATATATTTAAGTATAAATATATAAATATATAAATATATA TTTAAGTATAAATATATAAATATATAAATATATATTTAAGTATATATAAA AT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	326	0.0031	101	c.358 others(118): Show c.358+2924_358+2925insAATATATAAATATATAAATATATATTTA AGTATAAATATATAAATATATAAATATATATTTAAGTATATATAAAATAT ATATAAATATATATTTAAGTATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSTN1_chr3_52828121_52840019	52832637	G G	GAGGGAGA others(94): Show GAGGGAGAGGGGTTTTGAGGTCCCTGGTGCAGGCAGGGAGAGGGGTTTTG AGGTCCCTAGTGCAGTGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 NA18906.hp1 HG02970.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	388	0.0052	101	c.68 others(110): Show c.686_*687insGGACTGCACTAGGGACCTCAAAACCCCTCTCCCTGC ACTGCACTAGGGACCTCAAAACCCCTCTCCCTGCCTGCACCAGGGACCTC AAAACCCCTCTCCCT	MUSTN1	ENSG00000272573.6	transcript	ENST00000446157.3	protein_coding		483		chr3	TogoVar
MUSTN1_chr3_52828121_52840019	52832637	G G	GAGGGAGA others(94): Show GAGGGAGAGGGGTTTTGAGGTCCCTGGTGCAGGCAGGGAGAGGGGTTTTG AGGTCCCTAGTGCAGTGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGT GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(178): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18947.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0003c0004t0001 a0001c0001t0001 a0001c0001t0004 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0004g0009 a0001c0001t0004g0032 a0003c0004t0001g0033	181	388	0.4665	101	c.68 others(110): Show c.686_*687insGCACTGCACTAGGGACCTCAAAACCCCTCTCCCTGC ACTGCACTAGGGACCTCAAAACCCCTCTCCCTGCCTGCACCAGGGACCTC AAAACCCCTCTCCCT	MUSTN1	ENSG00000272573.6	transcript	ENST00000446157.3	protein_coding		483		chr3	TogoVar
MUSTN1_chr3_52828121_52840019	52832651	T T	TTGAGGTC others(94): Show TTGAGGTCCCTGGTGCAGGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCA GTGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGTGCAGGGAGAGGGGT TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00738.hp2 others(22): Show HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01168.hp2 HG01192.hp1 HG01361.hp2 HG01433.hp1 HG02015.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG03831.hp1 NA18747.hp1 NA18949.hp2 NA18962.hp1 NA18979.hp2 NA18985.hp2 NA18992.hp2 NA18995.hp1 NA19089.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0005 a0001c0001t0001g0016	25	388	0.0644	101	c.67 others(110): Show c.672_*673insGAACCCCTCTCCCTGCACTGCACTAGGGACCTCAAA ACCCCTCTCCCTGCACTGCACTAGGGACCTCAAAACCCCTCTCCCTGCCT GCACCAGGGACCTCA	MUSTN1	ENSG00000272573.6	transcript	ENST00000446157.3	protein_coding		469		chr3	TogoVar
MYBPC1_chr12_101589971_101691028	101591775	C C	CTTCTTCT others(94): Show CTTCTTCTTCTTTTCTTCTTCTTCTCCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	360	0.0028	101	c.-32 others(112): Show c.-3296_-3295insTTCTTCTTCTTTTCTTCTTCTTCTCCTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3195		chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TTCTCTTT others(94): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTC CTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0095 a0003c0006t0001g0095	1	322	0.0031	101	c.903 others(116): Show c.903+472_903+473insCTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTTCCTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTCTTTCTTTCT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TTCTCTTT others(94): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTC CTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0315 a0007c0010t0003g0315	1	322	0.0031	101	c.903 others(116): Show c.903+472_903+473insCTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTTCCTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTTCTTTCTTTCTTTCTTTCT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40192313	T T	TATATATG others(94): Show TATATATGACATATATATATATATATATATATATATATATATATATATAT GTCATATATATATATGTCATATATATATATGTCATATATATATATATATG TC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	170	0.0059	101	c.166 others(120): Show c.1665+1856_1665+1857insGACATATATATATATATATATATATA TATATATATATATATATGTCATATATATATATGTCATATATATATATGTC ATATATATATATATATGTCATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1L_chr2_1784113_2336275	2262932	A A	ATATATAT others(94): Show ATATATATATATATATATATATATATATATAACCTGTGATATATATATAT ATATATATATATATATATATATATATATATAACCTGTGATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0002 a0001c0004t0004g0002	1	104	0.0096	101	c.-42 others(122): Show c.-421+21471_-421+21472insATATATATATATATCACAGGTTAT ATATATATATATATATATATATATATATATATATATATATCACAGGTTAT ATATATATATATATATATATATATATA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
NAA15_chr4_139296505_139396384	139385283	A A	AATATATA others(94): Show AATATATATATATATATATATATATATATAATATATATATATAATATATA TTATATAATATATATATAATATATTATATATATATAATATATATTATATA TT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	334	0.0030	101	c.230 others(118): Show c.2302+322_2302+323insTATATATATATAATATATATATATAATA TATATTATATAATATATATATAATATATTATATATATATAATATATATTA TATATTATATATATATATATATA	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(94): Show CTATACATATATGTATAGTATACATATATGTATACTATACGTATAGTATA CATATATGTATACTATACGTATAGTATACATATATGTATACTATACGTAT AG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19000.hp1 NA19057.hp1 others(3): Show HG01346.hp2 NA19000.hp1 NA19057.hp1 NA19077.hp1 NA19080.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0013 a0001c0002t0009g0022 a0001c0002t0009g0090 a0001c0002t0009g0013 a0001c0002t0009g0022 a0001c0002t0009g0090	6	374	0.0160	101	c.137 others(118): Show c.1376-217_1376-216insGTATACATATATGTATACTATACGTATA GTATACATATATGTATACTATACGTATAGTATACATATATGTATACTATA CGTATAGTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NAV2_chr11_19707837_20126601	19828552	C C	CATGACGG others(94): Show CATGACGGCTCACTGCAGCCTTGACCTACAGGGCTCAGGTGATCCCCCCA CGTCAGCCTCCTCAGTAGCTGTGACTATGGGCACGTGCCATCACACCCGG CT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0003c0055 a0004c0135 a0003c0005 a0003c0055 a0004c0135	a0003c0005t0005 a0003c0055t0008 a0004c0135t0039 a0003c0005t0005 a0003c0055t0008 a0004c0135t0039	a0003c0005t0005g0128 a0003c0055t0008g0070 a0004c0135t0039g0137 a0003c0005t0005g0128 a0003c0055t0008g0070 a0004c0135t0039g0137	3	166	0.0181	101	c.268 others(118): Show c.268-3930_268-3830dupTGACGGCTCACTGCAGCCTTGACCTACA GGGCTCAGGTGATCCCCCCACGTCAGCCTCCTCAGTAGCTGTGACTATGG GCACGTGCCATCACACCCGGCTA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM2_chr21_20993409_21548329	21331558	A A	ATATATAT others(94): Show ATATATATATATACTCTATATATATATATATATACTCTATATATATATAT ATACTCTCTCTCTCTCCATATATATATATATATATACTCTCTCTCTCTCT CT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	132	0.0076	101	c.738 others(118): Show c.738-3947_738-3946insTATATATATATACTCTATATATATATAT ATATACTCTATATATATATATATACTCTCTCTCTCTCCATATATATATAT ATATATACTCTCTCTCTCTCTCT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17			chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331558	A A	ATATATAT others(94): Show ATATATATATATACTCTATATATATATATATATACTCTATATATATATAT ATACTCTCTCTCTCTCCATATATATATATATATATATACTCTCTCTCTCT CT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02523.hp1 HG01934.hp2 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0036 a0002c0002t0003g0081 a0002c0002t0001g0036 a0002c0002t0003g0081	2	132	0.0152	101	c.738 others(118): Show c.738-3947_738-3946insTATATATATATACTCTATATATATATAT ATATACTCTATATATATATATATACTCTCTCTCTCTCCATATATATATAT ATATATATACTCTCTCTCTCTCT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17			chr21	TogoVar
NCAPH2_chr22_50503224_50529780	50504096	A A	ACCCCCCC others(94): Show ACCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	384	0.0026	101	c.-42 others(112): Show c.-4242_-4241insCCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCC CTGCACCCCGGGCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCA CCCCGGGCTCCACACCC	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4127		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(94): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAAACCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	384	0.0026	101	c.-41 others(112): Show c.-4198_-4197insCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACC CCGGGCTCCAAACCCCC	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4083		chr22	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(94): Show GGGGGTCAGCCCCCCCACCCCGCCAGCCACCCCATCCGGGAGGGAGGTGG GGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAG GT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02615.hp2 NA19030.hp1 HG02148.hp1 HG02615.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0003 a0001c0001t0010 a0001c0011t0014 a0001c0001t0003 a0001c0001t0010 a0001c0011t0014	a0001c0001t0003g0277 a0001c0001t0010g0256 a0001c0011t0014g0280 a0001c0001t0003g0277 a0001c0001t0010g0256 a0001c0011t0014g0280	3	282	0.0106	101	c.282 others(120): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGATGGGGTGG CTGGCGGGGTGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(94): Show GGGGGTCAGCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGT GGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAG GT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	282	0.0036	101	c.282 others(120): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTGGCT GGCGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095670	G G	GGTCAGCC others(94): Show GGTCAGCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGTGGG GGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03688.hp1 NA18960.hp1 others(4): Show HG02280.hp1 HG03688.hp1 NA18960.hp1 NA18987.hp1 NA18987.hp2 NA18995.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0018t0002 a0001c0001t0001 a0001c0001t0002 a0001c0018t0002	a0001c0001t0001g0094 a0001c0001t0002g0152 a0001c0001t0002g0157 others(4): Show a0001c0001t0001g0094 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0252 a0001c0018t0002g0150	7	282	0.0248	101	c.282 others(120): Show c.2820+2696_2820+2697insACCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCGGGGGGGGGGGGGGCTGAC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095670	G G	GGTCAGCC others(94): Show GGTCAGCCCCCCGCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGTGGGG GGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0004	1	282	0.0036	101	c.282 others(120): Show c.2820+2696_2820+2697insACCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCGGGGGGCGGGGGGCTGAC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCS1_chr9_130167404_130242303	130221958	A A	AATATAAA others(94): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC AT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp2 HG02451.hp2 others(3): Show HG00639.hp2 HG02280.hp2 HG02451.hp2 HG02886.hp1 HG02922.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0021 a0001c0002t0148 others(2): Show a0001c0002t0008 a0001c0002t0021 a0001c0002t0148 a0001c0002t0161 a0001c0002t0171	a0001c0002t0008g0114 a0001c0002t0021g0034 a0001c0002t0021g0306 others(3): Show a0001c0002t0008g0114 a0001c0002t0021g0034 a0001c0002t0021g0306 a0001c0002t0148g0130 a0001c0002t0161g0309 a0001c0002t0171g0300	6	348	0.0172	101	c.308 others(116): Show c.308-691_308-690insTATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130221958	A A	AATATAAA others(94): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATCTATAAATATATATAC AT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02717.hp2 HG02004.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0100 a0001c0002t0143 a0001c0002t0100 a0001c0002t0143	a0001c0002t0100g0122 a0001c0002t0143g0316 a0001c0002t0100g0122 a0001c0002t0143g0316	2	348	0.0058	101	c.308 others(116): Show c.308-691_308-690insTATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATCTATAAATATATATACATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130221991	A A	AATATAAA others(94): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC AT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0155 a0001c0002t0155	a0001c0002t0155g0344 a0001c0002t0155g0344	1	348	0.0029	101	c.308 others(116): Show c.308-658_308-657insTATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDST3_chr4_118029486_118263634	118066520	T T	TATATAAT others(94): Show TATATAATATGTTATATATTATATATACATTATATATAATATGTTATATA TTATATATACATTATATATAATATGTTATATATTATATATACATTATATA TA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	216	0.0046	101	c.981 others(120): Show c.981+11633_981+11634insAATATGTTATATATTATATATACATT ATATATAATATGTTATATATTATATATACATTATATATAATATGTTATAT ATTATATATACATTATATATAATAT	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDUFV3_chr21_42888309_42918299	42894351	A A	AATATATA others(94): Show AATATATATATATATAATATATATTATATATAAATATATAATATATATTA TATATATTATATAATATATATAATATATAATATATATTATATATAAATAT AT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	348	0.0029	101	c.48+ others(114): Show c.48+971_48+972insTATATATATATATAATATATATTATATATAAA TATATAATATATATTATATATATTATATAATATATATAATATATAATATA TATTATATATAAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894362	A A	ATATATAT others(94): Show ATATATATTATATATAATATATATTATATTAAATATATATTATATATATT ATATATAATATATATTATATATAATATATATTATATATATTATATATAAT AT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0154 a0001c0001t0057g0154	1	348	0.0029	101	c.48+ others(114): Show c.48+988_48+989insTATATATAATATATATTATATTAAATATATAT TATATATATTATATATAATATATATTATATATAATATATATTATATATAT TATATATAATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(94): Show TTATATATATATATATATATATGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG02055.hp2 others(12): Show HG00408.hp2 HG01069.hp2 HG02055.hp2 HG02523.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp1 NA18950.hp1 NA19001.hp1 NA19006.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0004 a0001c0008t0001 a0001c0001t0001 a0001c0002t0004 a0001c0008t0001	a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0134 others(12): Show a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0002t0004g0001 a0001c0002t0004g0208 a0001c0002t0004g0225 a0001c0002t0004g0230 a0001c0002t0004g0236 a0001c0002t0004g0238 a0001c0002t0004g0247 a0001c0008t0001g0132 a0001c0008t0001g0140 a0001c0008t0001g0146	15	252	0.0595	101	c.600 others(118): Show c.6006+264_6006+265insGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATATATATATATATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(94): Show ACCCCTCCCCCGACCTCCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCT CCCCCGACCTCCCCCTTCCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGG CC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	322	0.0031	101	c.127 others(118): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCCGCGCCCCGA CCTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTCCCC CCGCCCCCCTCCCCCGGCCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NOC4L_chr12_132139457_132157468	132156826	C C	CACAACAC others(94): Show CACAACACACAACCACTATACACACACTACACACACCACTACACGCACAC ACTACACACACTACACACACAACCACTACACACACCACTACACGCCACTA CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	294	0.0034	101	c.44 others(112): Show c.4425_*4426insACAACACACAACCACTATACACACACTACACACA CCACTACACGCACACACTACACACACTACACACACAACCACTACACACAC CACTACACGCCACTACA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4359		chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(94): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGTGCAGGGTGGGTGTG GGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG GG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	324	0.0031	101	c.140 others(118): Show c.140+8559_140+8560insCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCACACCCACCCTGCACCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535789	G G	GCACTCAG others(94): Show GCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAG CACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGG AT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0011 a0001c0060t0011	a0001c0060t0011g0120 a0001c0060t0011g0120	1	324	0.0031	101	c.140 others(118): Show c.140+8234_140+8235insATCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCAT TGCCCCAGGAGGGATCCTGAGTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535835	G G	GGGGGAGC others(94): Show GGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCG GGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGA GA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0292 a0001c0008t0001g0292	1	324	0.0031	101	c.140 others(118): Show c.140+8188_140+8189insTCTCCACCCACCCTGCACTCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOX1_chrX_100838324_100879359	100853337	T T	TCTTTCTT others(94): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTCCTTCCTTCCTTCCTTGCTTTCTTCCTTGCGTCCT TC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	302	0.0033	101	c.805 others(118): Show c.805-2013_805-2012insGAAGGACGCAAGGAAGAAAGCAAGGAAG GAAGGAAGGAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAG	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(94): Show AAAAAAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0006 a0002c0017t0006	a0002c0017t0006g0155 a0002c0017t0006g0155	1	208	0.0048	101	c.-10 others(122): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTCTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NSUN5_chr7_73297516_73313826	73306860	A A	AGACTCAG others(94): Show AGACTCAGTCTAAAAAAAAAAGAGAGAAAGGAGTGGAGCTGAGAAAGATG CTCAAGGTAGGGGAGTAAATGATTGGAGGGAGGAGAAGGAAGCACCTAGG AT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18946.hp2 NA18957.hp1 others(16): Show HG02135.hp1 NA18946.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18973.hp1 NA18978.hp2 NA18982.hp1 NA18989.hp2 NA18990.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp2 NA19055.hp1 NA19079.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0026 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0027	19	420	0.0452	101	c.500 others(116): Show c.500+433_500+533dupATCCTAGGTGCTTCCTTCTCCTCCCTCCAA TCATTTACTCCCCTACCTTGAGCATCTTTCTCAGCTCCACTCCTTTCTCT CTTTTTTTTTTAGACTGAGTC	NSUN5	ENSG00000130305.17	transcript	ENST00000438747.7	protein_coding	4/9			chr7	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	ATATATAT others(94): Show ATATATATATATATGTATACATATATATATATACGTATATATATATATAT ACATATATATATATATACGTATATATATATATATATACATATATATATAT GT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0313 a0001c0001t0005g0313	1	346	0.0029	101	c.658 others(118): Show c.658-4615_658-4614insACATATATATATATGTATATATATATAT ATATACGTATATATATATATATGTATATATATATATATACGTATATATAT ATATGTATACATATATATATATA	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NTM_chr11_131365615_132341822	131789494	A A	AAGAAGAA others(94): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	86	0.0116	101	c.83- others(120): Show c.83-122069_83-122068insGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDC_chr1_26916743_26951871	26927268	T T	TGTGTGTG others(94): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGTCTTGC TCTGTTGTCCCAGCTGGAGCACAGTGGCTGTAAGAAGGGAGAGAGATGAA CC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	254	0.0039	101	c.159 others(118): Show c.159+3138_159+3139insGTCAGGGTCTTGCTCTGTTGTCCCAGCT GGAGCACAGTGGCTGTAAGAAGGGAGAGAGATGAACCGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
OBI1_chr13_78609289_78664155	78659312	A A	AAAAAAAA others(94): Show AAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	101	c.-19 others(110): Show c.-193_-192insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTTTTTTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		158		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659312	A A	AAAAAAAA others(94): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0137 a0007c0008t0001g0137	1	296	0.0034	101	c.-19 others(110): Show c.-193_-192insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTTTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		158		chr13	TogoVar
OCA2_chr15_27749875_28104315	28069406	T T	TCTCCCTC others(94): Show TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG03453.hp1 others(2): Show HG02922.hp2 HG03139.hp2 HG03453.hp1 NA19030.hp1 NA19030.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0003 a0001c0005 a0005c0018 others(1): Show a0001c0003 a0001c0005 a0005c0018 a0006c0023	a0001c0003t0001 a0001c0005t0001 a0005c0018t0001 others(1): Show a0001c0003t0001 a0001c0005t0001 a0005c0018t0001 a0006c0023t0001	a0001c0003t0001g0036 a0001c0005t0001g0073 a0005c0018t0001g0055 others(2): Show a0001c0003t0001g0036 a0001c0005t0001g0073 a0005c0018t0001g0055 a0005c0018t0001g0082 a0006c0023t0001g0093	5	110	0.0455	101	c.227 others(120): Show c.227+12241_227+12242insGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAG	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23			chr15	TogoVar

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