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
KIAA0825_chr5_94145851_94623604	94608454	T T	TATATATA others(300): Show TATATATATATTATATATATATATTATATATATAATATATATTATATATA ATATATATAAAATATATATATTATATATATAATATATATTATATATATAA TATATATATTTTATATATATTATATATATAAAATATATATATTATATATA TAATATATATTATATATATAATATATATATTTTATATATATAATATATAT TATATATATAATATATATATTATATATATAATATATATTATATATATAAA ATATATATATTATATATATAATATATATTATATATATAATATATATATTA TATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0015 a0003c0002t0015	a0003c0002t0015g0020 a0003c0002t0015g0020	1	54	0.0185	307	c.-15 others(328): Show c.-153+10045_-153+10046insTATATATATAATATATATATTATA TATATAATATATATTATATATATAATATATATATTTTATATATATAATAT ATATTATATATATAATATATATATTATATATATAATATATATTATATATA TAAAATATATATATTATATATATAATATATATTATATATATAATATATAT ATTTTATATATATAATATATATAAAATATATATATTATATATATAATATA TATTATATATATAATATATATATTTTATATATATTATATATAATATATAT TATATATATAATATATATATATAATATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(300): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGTGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	375	0.0027	307	c.317 others(324): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGA ACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGG GAACGGCGCTGCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(300): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC ACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAA GCTCCGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG06807.hp1 others(1): Show HG02922.hp2 HG02976.hp2 HG06807.hp1 NA19240.hp1	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0020 a0001c0061 a0002c0003 others(1): Show a0001c0020 a0001c0061 a0002c0003 a0018c0043	a0001c0020t0013 a0001c0061t0028 a0002c0003t0022 others(1): Show a0001c0020t0013 a0001c0061t0028 a0002c0003t0022 a0018c0043t0039	a0001c0020t0013g0086 a0001c0061t0028g0145 a0002c0003t0022g0006 others(1): Show a0001c0020t0013g0086 a0001c0061t0028g0145 a0002c0003t0022g0006 a0018c0043t0039g0133	4	160	0.0250	307	c.135 others(326): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTC AGCTCACTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF2A_chr5_62301206_62396025	62339523	T T	TCTGTATT others(300): Show TCTGTATTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02486.hp1 others(13): Show HG01884.hp2 HG02258.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA18957.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035	a0001c0001t0003g0022 a0001c0001t0003g0200 a0001c0001t0004g0228 others(12): Show a0001c0001t0003g0022 a0001c0001t0003g0200 a0001c0001t0004g0228 a0001c0001t0008g0332 a0001c0001t0008g0333 a0001c0001t0008g0334 a0001c0001t0017g0208 a0001c0001t0018g0329 a0001c0001t0019g0178 a0001c0001t0019g0325 a0001c0001t0029g0330 a0001c0001t0030g0331 a0001c0001t0032g0204 a0001c0001t0033g0328 a0001c0001t0035g0179	16	370	0.0432	307	c.65- others(322): Show c.65-7596_65-7595insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTGTATTTCTT	KIF2A	ENSG00000068796.19	transcript	ENST00000407818.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMF1_chr16_848634_975984	857623	A A	ACGGGACG others(300): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0275 a0001c0033t0001g0275	1	294	0.0034	307	c.153 others(326): Show c.1530-2918_1530-2917insAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857636	G G	GAGTGGTG others(300): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0152 a0001c0018t0001g0152	1	294	0.0034	307	c.153 others(326): Show c.1530-2931_1530-2930insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGTGCA others(300): Show CGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	414	0.0024	307	c.-43 others(318): Show c.-4362_-4361insGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132358873	C C	CAGCGTGG others(300): Show CAGCGTGGGGAGGTGCTGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGG TGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGTGC TGAGGTGGTGGAGCAGCGTGGGGAGGTGCTGAGGTGATGGAGCAGCGTAG GGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAG CGTGGGGAGGTGCTGAGGTGGTGGAGCAGCGTGGGGAGGTGCTGAGGTGA TGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGA GGTGGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0203 a0001c0001t0009g0203	1	290	0.0035	307	c.117 others(326): Show c.1171-2582_1171-2581insCGTGGGGAGGTGCTGAGGTGATGGAG CAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGG TGGAGCAGCGTGGGGAGGTGCTGAGGTGGTGGAGCAGCGTGGGGAGGTGC TGAGGTGATGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCGTGGGAA GGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGTGCTGAGGTGGTGGAGCAG CGTGGGGAGGTGCTGAGGTGATGGAGCAGCGTAGGGAGGAGCCGAGGTGG TGGAGCGTGGGAAGGAGCCGAGGTGGTGGAG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MACF1_chr1_39199695_39492138	39211990	T T	TAATAGTG others(300): Show TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03130.hp2 HG03579.hp1 HG01069.hp2 HG03130.hp2 HG03579.hp1	a0009 a0009	a0009c0014 a0009c0047 a0009c0014 a0009c0047	a0009c0014t0001 a0009c0014t0009 a0009c0047t0001 a0009c0014t0001 a0009c0014t0009 a0009c0047t0001	a0009c0014t0001g0190 a0009c0014t0009g0192 a0009c0047t0001g0189 a0009c0014t0001g0190 a0009c0014t0009g0192 a0009c0047t0001g0189	3	246	0.0122	307	c.109 others(324): Show c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAATAGTGGGTGAT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	1/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(300): Show AGGGGGGAGGGGGGAGGGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGGAGGGGGGGAGGGGGA GGGGGAGGGGCGGAGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGG GGAGAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0015 a0002c0002t0008g0015	1	163	0.0061	307	c.525 others(324): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCTC TCCCCCCTCCCCCCTCTCCGCCCCTCCCCCTCCCCCTCCCCCCCTCCCCC CTCCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTC CCCCCTCCCCCCCCCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478070	A A	AGGGGGGA others(300): Show AGGGGGGAGCGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGA GAGAGGGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGG AGGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGAGGAGAGGGGG GAGGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGG GGGAGGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG AGAGGGGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAG GGGGGGAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	163	0.0061	307	c.525 others(324): Show c.525+8411_525+8412insCTCCCCCCCTCCCCCCTCCCCCCTCCCC CCTCTCCCCCCCTCCCCCCTCCCCCCCTCTCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCTCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCTCCCCTCTC CCCCCTCCCCCCTCTCCCCCTCCCCCCCTCCCCCCTCTCCTCCCCTCCCC CCTCTCCCCCCCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCCTCCCC CCTCTCCCCCCCTCCCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCC CCCCTCCCCCCTCTCTCCCCGCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173260492	T T	TGAGGCTG others(300): Show TGAGGCTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCC TGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCTCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0293 a0001c0007t0007g0293	1	334	0.0030	307	c.147 others(324): Show c.1477-559_1477-558insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACCGCGCCCGGCCGAGGCTGTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL1_chr3_152263929_152470780	152311692	A A	AGCTCACA others(300): Show AGCTCACACTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AACCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	338	0.0030	307	c.174 others(326): Show c.174+11343_174+11344insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCAC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAACCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAAAGTGCTCACACTATTCTTTTT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MCTP2_chr15_94226561_94488952	94276661	T T	TAAGAAAT others(300): Show TAAGAAATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp2 NA18973.hp1 HG02895.hp2 HG03579.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0012 a0001c0002t0003 a0001c0010t0033 a0001c0001t0012 a0001c0002t0003 a0001c0010t0033	a0001c0001t0012g0100 a0001c0002t0003g0218 a0001c0010t0033g0152 a0001c0001t0012g0100 a0001c0002t0003g0218 a0001c0010t0033g0152	3	276	0.0109	307	c.-65 others(326): Show c.-65-21527_-65-21526insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGAAATATTTGG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF6_chr1_3482951_3616508	3587876	C C	CCAGGAGG others(300): Show CCAGGAGGGGACAGGAGTGGCTAGGAGGAGACAGGACCGGCCAGGAGTGG CCAGGAGTGGACAGGAGGAGACAGGAGGGGACAGGAGTGGATAGGAGGAG ATAGGAGGGGACAGGAGTGGACAGAAGGAGACAGGAGGGGACAGGAGTGG ACAGGAGACAGGAGGGGACAGGAATGGCCAAGAGGGGACAGGAGTGGCCA GGAGGGGGCAGAAGTGGCCAGGAGTGGGCAGGAGGGGGCAGGACAGGCCA GGAGGAGGCAGGAGGGGGCAGGAGGGGACAGGAGGGGGCAGGAGGGGACA GGAGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0032 a0032	a0032c0042 a0032c0042	a0032c0042t0033 a0032c0042t0033	a0032c0042t0033g0280 a0032c0042t0033g0280	1	292	0.0034	307	c.376 others(324): Show c.376+7461_376+7462insCCCCCTCCTGTCCCCTCCTGCCCCCTCC TGTCCCCTCCTGCCCCCTCCTGCCTCCTCCTGGCCTGTCCTGCCCCCTCC TGCCCACTCCTGGCCACTTCTGCCCCCTCCTGGCCACTCCTGTCCCCTCT TGGCCATTCCTGTCCCCTCCTGTCTCCTGTCCACTCCTGTCCCCTCCTGT CTCCTTCTGTCCACTCCTGTCCCCTCCTATCTCCTCCTATCCACTCCTGT CCCCTCCTGTCTCCTCCTGTCCACTCCTGGCCACTCCTGGCCGGTCCTGT CTCCTCCTAGCCACTCCTGTCCCCTCCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(300): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00609.hp2 others(70): Show HG00099.hp1 HG00140.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02735.hp2 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18954.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19043.hp1 NA19070.hp1 NA19080.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0030 a0001c0008t0001 a0002c0002t0013	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 others(70): Show a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0297 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0002g0002 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0313 a0001c0001t0003g0276 a0001c0001t0003g0282 a0001c0001t0004g0244 a0001c0001t0004g0263 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0005g0271 a0001c0001t0006g0290 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0009g0278 a0001c0001t0009g0279 a0001c0001t0009g0280 a0001c0001t0009g0281 a0001c0001t0010g0260 a0001c0001t0017g0277 a0001c0001t0022g0292 a0001c0001t0027g0243 a0001c0001t0030g0257 a0001c0008t0001g0248 a0002c0002t0013g0275 a0002c0002t0013g0283 a0002c0002t0013g0298	73	360	0.2028	307	c.-15 others(324): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEIS1_chr2_66430125_66578869	66431845	T T	TAGAAAAC others(300): Show TAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02083.hp2 HG02165.hp2 others(22): Show HG00621.hp1 HG02083.hp2 HG02165.hp2 HG02293.hp1 HG03239.hp1 HG03669.hp2 HG03942.hp1 HG04204.hp1 NA18940.hp2 NA18945.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp2 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18989.hp1 NA19003.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0011 a0001c0001t0001g0111 a0001c0001t0001g0133 others(22): Show a0001c0001t0001g0011 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0185 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0162 a0001c0001t0003g0170 a0001c0001t0003g0184 a0001c0001t0004g0101 a0001c0001t0004g0151 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0007g0239 a0001c0001t0015g0147 a0001c0001t0017g0168 a0001c0002t0001g0132 a0001c0002t0004g0131	25	246	0.1016	307	c.-40 others(318): Show c.-4012_-4011insAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCT TCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCC TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAG ACTCCGTCTCAAAAAAAAAAAAA	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding		3279		chr2	TogoVar
MFSD14B_chr9_94369569_94466042	94454529	G G	GCTAATTT others(300): Show GCTAATTTTTGTATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG02630.hp1 others(6): Show HG00544.hp1 HG01884.hp1 HG02630.hp1 HG02895.hp1 HG02922.hp1 HG03516.hp2 HG03540.hp2 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0101 others(6): Show a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0223	9	350	0.0257	307	c.102 others(324): Show c.1028+476_1028+477insTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAATTTTTGTATTTTT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGTGCA others(300): Show CGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	307	c.26 others(318): Show c.2627_*2628insGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(300): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGAGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18906.hp2 NA19078.hp2 HG01175.hp2 NA18906.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0044 a0001c0001t0003 a0001c0001t0005 a0001c0001t0044	a0001c0001t0003g0268 a0001c0001t0005g0195 a0001c0001t0044g0269 a0001c0001t0003g0268 a0001c0001t0005g0195 a0001c0001t0044g0269	3	402	0.0075	307	c.14+ others(322): Show c.14+2385_14+2386insTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTC CCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MTHFSD_chr16_86525186_86560235	86528908	T T	TGGCTATG others(300): Show TGGCTATGTTTCATTTTATTTTTTTTTTTTTTTTTTTTTTTTATTTTATT TTATTTTATTTTTTTTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTGGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03688.hp2 HG02735.hp2 HG03688.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0198 a0004c0004t0008g0199 a0004c0004t0008g0198 a0004c0004t0008g0199	2	408	0.0049	307	c.31 others(318): Show c.3102_*3103insTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACCAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAATAAAAAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAA AAAAAATAAAATGAAACATAGCC	MTHFSD	ENSG00000103248.19	transcript	ENST00000360900.11	protein_coding		1277		chr16	TogoVar
MYDGF_chr19_4652545_4675342	4663119	T T	TCATCCTC others(300): Show TCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCT CATTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCTCATTC TACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCC TCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAA TCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAATCTAC CCTCCCCATCCACCCCATCCTCATTCTACAGCCTTCAATCTACCCTCCCC ACCCACCC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19059.hp1 NA18974.hp1 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0114 a0002c0002t0008g0115 a0002c0002t0002g0114 a0002c0002t0008g0115	2	410	0.0049	307	c.287 others(324): Show c.287+1756_287+1757insGGGTGGGTGGGGAGGGTAGATTGAAGGC TGTAGAATGAGGATGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAG AATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGA GGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGG GTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGACGGGGTGGATG GGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGACAGGACGGGTGGGGAG GGTAGATTGGAGGCTGTAGAATGAGGATG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NDUFB4_chr3_120591336_120607507	120600110	T T	TTTTTTTT others(300): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	424	0.0024	307	c.181 others(322): Show c.181-991_181-990insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAAGGTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(300): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	376	0.0027	307	c.98 others(316): Show c.980_*981insTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NEK5_chr13_52028611_52134073	52046481	T T	TAAAAAAA others(300): Show TAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGC TAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0055 a0010c0015t0001g0055	1	334	0.0030	307	c.222 others(326): Show c.2228+3622_2228+3623insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCC AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTTTTTT	NEK5	ENSG00000197168.14	transcript	ENST00000684899.1	protein_coding	23/23			chr13	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(300): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAA TGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGA GGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAA GGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGA GGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGAGA GGGAGGGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0059 a0001c0001t0026g0059	1	304	0.0033	307	c.563 others(326): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTCTCTC CCTCCCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTT TCCTCCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTT CTCCTTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCT CCCTCCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(300): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAA GGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATG AAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAA GGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGA GGGAGGGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18950.hp1 HG03654.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0288 a0001c0001t0007g0151 a0001c0001t0002g0288 a0001c0001t0007g0151	2	304	0.0066	307	c.563 others(326): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(300): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG GGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAA GGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAG GAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAG AGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGA GGGAGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA20905.hp2 HG02970.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0057 a0001c0001t0009 a0001c0001t0057	a0001c0001t0009g0038 a0001c0001t0057g0019 a0001c0001t0009g0038 a0001c0001t0057g0019	2	304	0.0066	307	c.563 others(326): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCT CCGTCCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(300): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAA GGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATG AAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAA GGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGA GGGAGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0079 a0001c0001t0027g0079	1	304	0.0033	307	c.563 others(326): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCT CCGTCCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(300): Show CTGTATATGTGTACAGTATGTATACTGCGTACAGCATGTATACTGTATAT ATGTACAGTATGTATACTGTATATATGTACAGTATGTATACTGTATACAG TATGTATACTGTATACAGCATGTATACTGTATACAGCATGTATACTGTAT ACAGCATGTATACTGTATATATGTACAGTATGTATACCGTATACAGCATG TATACTGTATATATGTACAGTATGTATACCGTATACAGTATGTATACCGT ATACATATACAGTATGTATACCGTATACAGTATGTATACCGTATATATAT ACACAGTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0304 a0001c0003t0005g0304	1	362	0.0028	307	c.-75 others(326): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTATACGGTATACATACTGTATATGTATACGGTATACATACTGTAT ACGGTATACATACTGTACATATATACAGTATACATGCTGTATACGGTATA CATACTGTACATATATACAGTATACATGCTGTATACAGTATACATGCTGT ATACAGTATACATGCTGTATACAGTATACATACTGTATACAGTATACATA CTGTACATATATACAGTATACATACTGTACATATATACAGTATACATGCT GTACGCAGTATACATACTGTACACATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(300): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19087.hp2 NA18962.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0221 a0001c0001t0001g0133 a0001c0001t0001g0221	2	356	0.0056	307	c.91+ others(320): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGG others(300): Show TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGG ATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAG GATCCCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0270 a0001c0004t0010g0270	1	324	0.0031	307	c.140 others(324): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCTCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGA CCCACCCTGCACCCATTGCTCCTGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCT CCACCCACCCTGCACCCATTGCCCCTGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535680	G G	GCACTCAG others(300): Show GCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGA GCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGG GAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGG GGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGA GGGGGGAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0314 a0001c0005t0003g0314	1	324	0.0031	307	c.140 others(324): Show c.140+8343_140+8344insATCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC CCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(300): Show AGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGG GGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTG GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0192 a0001c0024t0003g0192	1	324	0.0031	307	c.140 others(324): Show c.140+8240_140+8241insCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCAT TGCCCCAGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPAT_chr11_108152215_108227638	108180542	C C	CAAAAAAT others(300): Show CAAAAAATGACACGTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCGTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	350	0.0029	307	c.907 others(324): Show c.907-3453_907-3452insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGC TCACTGCACGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGTGCCCGGCCACGTGTCATTTTTT	NPAT	ENSG00000149308.17	transcript	ENST00000278612.9	protein_coding	10/17			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(300): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT AATATATATTATATATAAAGTATATATATAATATATATTATATATAAAGT ATATATATAATATATATTATATATATATAAAATATATAATATATATTATA TATATAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03516.hp1 NA19043.hp2 HG02818.hp1 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0226 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0226	3	308	0.0097	307	c.730 others(324): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATAATATATATTATAT ATATTATATATATACTTTATATATAATATATATTATATATATTATATATA TACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(300): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCC TCCTCTCCCCTCCCCTCCCACCGTCCCCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCCCCTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02258.hp2 others(4): Show HG01069.hp1 HG01071.hp2 HG02258.hp2 HG02572.hp1 HG03041.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0041 a0001c0001t0086 a0001c0001t0016 a0001c0001t0041 a0001c0001t0086	a0001c0001t0016g0001 a0001c0001t0016g0229 a0001c0001t0041g0228 others(1): Show a0001c0001t0016g0001 a0001c0001t0016g0229 a0001c0001t0041g0228 a0001c0001t0086g0227	7	326	0.0215	307	c.433 others(324): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGAG GGGGGGACGGTGGGAGGGGAGGGGAGAGGAGGGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(300): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG03927.hp1 HG00140.hp2 HG03927.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0062 a0004c0004t0001g0142 a0004c0004t0001g0062 a0004c0004t0001g0142	2	360	0.0056	307	c.-30 others(318): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP160_chr11_47773118_47853350	47785088	T T	TGAGTTTC others(300): Show TGAGTTTCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp2 others(12): Show HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01255.hp1 HG01258.hp2 HG01515.hp2 HG01943.hp2 HG02004.hp2 HG02071.hp1 HG02602.hp2 HG02922.hp1 HG03710.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0013 a0002c0014 others(1): Show a0002c0002 a0002c0013 a0002c0014 a0004c0007	a0002c0002t0001 a0002c0013t0001 a0002c0014t0001 others(1): Show a0002c0002t0001 a0002c0013t0001 a0002c0014t0001 a0004c0007t0001	a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0101 others(12): Show a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0218 a0002c0013t0001g0113 a0002c0014t0001g0047 a0004c0007t0001g0110	15	338	0.0444	307	c.374 others(322): Show c.3747-26_3747-25insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAATCTGAAACTC	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	32/35			chr11	TogoVar
NUP210L_chr1_153987690_154160073	154151282	T T	TTCATTGA others(300): Show TTCATTGATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02615.hp1 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0107 a0001c0006t0001g0108 a0001c0006t0001g0107 a0001c0006t0001g0108	2	290	0.0069	307	c.340 others(324): Show c.340+1453_340+1454insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAGAATCAATGA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	2/39			chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(300): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAT ACCCCTAAGGACTGGAGCCCCCTGAGGACTGGAACCCCCTGAGGACTGGA GCCCCCTGAGGACAGGAGCCGCCCTGAGGACTAGAGCCCCCTGAGGACTG GAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAACCCCCTGAGCACT GGAGCCCCCTGAGGACTGGAGCCACCTGAGGACTGGAGCCGCCTGAGGAC TGGAGCCGCCTGAGGACTGGATACCCCTGAGGATTGGAGCCACCTGAGGA CTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 NA18522.hp1 HG02965.hp2 NA18522.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0016 a0008c0017t0016	a0008c0017t0016g0033 a0008c0017t0016g0033	2	406	0.0049	307	c.-37 others(318): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCTAGTCCTCA GGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCT CAGGGGGCTCCAGTCCTTAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCC TCAGGCGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(300): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAT ACCCCTGAGGACTGGAGCCCCCTGAGGACTGGAACCCCCTGAGGACTGGA GCCCCCTGAGGACAGGAGCCGCCCTGAGGACTAGAGCCCCCTGAGGACTG GAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAACCCCCTGAGCACT GGAGCCCCCTGAGGACTGGAGCCACCTGAGGACTGGAGCCGCCTGAGGAC TGGAGCCGCCTGAGGACTGGATACCCCTGAGGATTGGAGCCACCTGAGGA CTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02970.hp2 HG03041.hp1 others(1): Show HG01099.hp2 HG02970.hp2 HG03041.hp1 HG03540.hp1	a0014 a0014	a0014c0016 a0014c0029 a0014c0016 a0014c0029	a0014c0016t0010 a0014c0029t0010 a0014c0016t0010 a0014c0029t0010	a0014c0016t0010g0022 a0014c0029t0010g0062 a0014c0016t0010g0022 a0014c0029t0010g0062	4	406	0.0099	307	c.-37 others(318): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCTAGTCCTCA GGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCC TCAGGCGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(300): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAT ACCCCTGAGGACTGGAGCCCCCTGAGGACTGGAACCCCCTGAGGACTGGA GCCCCCTGAGGACAGGAGCCGCCCTGAGGACTAGAGCCCCCTGAGGACTG GAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAACCCCCTGAGCACT GGAGCCCCCTGAGGACTGGAGCCACCTGAGGACTGGAGCCGCCTGAGGAC TGGAGGCGCCTGAGGACTGGATACCCCTGAGGATTGGAGCCACCTGAGGA CTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02630.hp2 others(3): Show HG01243.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0040 a0004c0004t0011 a0004c0004t0040	a0004c0004t0011g0017 a0004c0004t0040g0120 a0004c0004t0011g0017 a0004c0004t0040g0120	6	406	0.0148	307	c.-37 others(318): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGCCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCTAGTCCTCA GGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCC TCAGGCGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(300): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAG CCCCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACAGGA GCCGCCCTGAGGACTAGAGCCCCCTGAGGACTGGAGCCCCCTGAGGACTG GAGCCGCCTGAGGACTGGAACCCCCTGAGCACTGGAGCCCCCTGAGGACT GGAGCCACCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGAC TGGAGCCGCCTGAGGACTGGATACCCCTGAGGATTGGAGCCACCTGAGGA CTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0119 a0015c0015t0001g0119	1	406	0.0025	307	c.-37 others(318): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG CGGCTCCAGTCCTCAGGTGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAG GGGGTTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCA GGGGGCTCTAGTCCTCAGGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCT CAGGGGGTTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCC TCAGGCGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(300): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGG GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGAGGGGAGGGGAGGGGGGA GGGGGAGGGAGGGGGGAGGGGGAGGGAGGGGGGAGGGGGAGGGGGGAGGG GAGGGGGGGAGGGAGGGGGGAGGGGGAGGGGGGAGGGGAGGGGGGGGGAG GGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGG AAGGGAAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	302	0.0033	307	c.155 others(324): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCCCTCCCCTCCC CCCTCCCCCTCCCCCCTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCC CCCTCCCTCCCCCTCCCCCCTCCCTCCCCCTCCCCCCTCCCCTCCCCTCT CCCCCTCCCCCTCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTTCC CTTCCCTTTCCCCCCCCTCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAM16_chr16_4335251_4356321	4344478	C C	CTGTGAGA others(300): Show CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGGTTCCGTGAGAGGA GGTGACTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0219 a0002c0002t0001g0219	1	367	0.0027	307	c.4-1 others(320): Show c.4-1188_4-1187insCAGTCACCTCCTCTCACGGAACCCCCCTCCTC TCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCT CCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTC CCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAG AACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTC ACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCC TCTCACAGAACCCCCTCCTCTCACA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(300): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGTCTAGGCTGGG CACAGCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGC AGATCACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAA CCCTGACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACAC CTGTAATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCC GGGAAGTG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	358	0.0028	307	c.126 others(324): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCA GTGGCACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(300): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTAATACA TATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	400	0.0025	307	c.70 others(318): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCGF3_chr4_700832_775089	715315	G G	GTAGACAC others(300): Show GTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGAACCCTGTAGACA CTGTGAGTGTGAGAACCGGGCATCGGTGCTGGGACCCTGTAGACACTGAG TGTGAGCACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGTGAGTGTGA GAACTGGGCGTCTGTGCTGGGACCCTATAGACACTGAGTGGGAGAACTGG GCGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGTGTTGG TGCTGGGACCCTGTGGACACTGTGAGTGTGAGAACTGGGCGTCTGTGCTG GGACCCTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0005 a0002c0002t0046g0005	1	366	0.0027	307	c.-19 others(326): Show c.-190+9381_-190+9382insAACCCTGTAGACACTGTGAGTGTGAG AACCGGGCATCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGCACTGGG CGTCGGTGCTGGGACCCTGTAGACACTGTGAGTGTGAGAACTGGGCGTCT GTGCTGGGACCCTATAGACACTGAGTGGGAGAACTGGGCGTCGGTGCTGG GACCCTGTAGACACTGAGTGTGAGAACTGGGTGTTGGTGCTGGGACCCTG TGGACACTGTGAGTGTGAGAACTGGGCGTCTGTGCTGGGACCCTATAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	727735	T T	TAAAAAGG others(300): Show TAAAAAGGATGACTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	366	0.0027	307	c.-18 others(326): Show c.-189-2881_-189-2880insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGGATGACTA	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 10000 hits)