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
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(296): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACGTGTAGC TCTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03490.hp2 NA19074.hp2 HG02572.hp2 HG03490.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0024 a0001c0001t0001 a0001c0001t0002 a0001c0006t0024	a0001c0001t0001g0242 a0001c0001t0002g0046 a0001c0006t0024g0081 a0001c0001t0001g0242 a0001c0001t0002g0046 a0001c0006t0024g0081	3	338	0.0089	303	c.117 others(324): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTG CAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNIP4_chr4_20723606_21953772	21532949	T T	TAAAAGCT others(296): Show TAAAAGCTAATTAATTAAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03540.hp2 HG02698.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0002 a0001c0002t0001g0049 a0001c0001t0003g0002 a0001c0002t0001g0049	2	80	0.0250	303	c.61+ others(322): Show c.61+415621_61+415622insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTTAATTAATTAGCTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMA1_chr10_76879882_77642808	77520178	G G	GGGGTATG others(296): Show GGGGTATGCAGTGTGAGGGTGTGCAGTGTGAGGTCTGGAGTATGCAGTGT GAGGGTGTGCATTGTGAGGTCCGGGGTATGCAGTGTGCGGGTGTGCAGTG TGAGGGTGTGCAGTGTGAGGTCTGGGGTGTGTGGTGTGAGGGTGTGCAGT GTGAGGTCTGAGGTATGCAGTGTGAGGGTGTGCAGTGTGCGGTCTGGGGT ATGTGGTGTGAGGGTATGCAGTGTGAGGTCTGGGGTGTGCAGTGTGAGGA TGTGCAGTGTGAGGTCTGGGGTATGTGGTGTGAGGGTGTGCAGTGTGAGG TCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01258.hp2 others(11): Show HG00280.hp1 HG01167.hp1 HG01258.hp2 HG01346.hp1 HG01928.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp2 NA18944.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0053 a0001c0001t0002g0048 a0001c0001t0002g0069 others(11): Show a0001c0001t0001g0053 a0001c0001t0002g0048 a0001c0001t0002g0069 a0001c0001t0002g0081 a0001c0001t0006g0093 a0001c0002t0001g0055 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0003g0067 a0001c0002t0017g0045 a0001c0003t0001g0010 a0001c0003t0001g0080 a0001c0004t0001g0036	14	106	0.1321	303	c.379 others(324): Show c.379-116156_379-116155insGGGACCTCACACTGCACACCCTCA CACCACATACCCCAGACCTCACACTGCACATCCTCACACTGCACACCCCA GACCTCACACTGCATACCCTCACACCACATACCCCAGACCGCACACTGCA CACCCTCACACTGCATACCTCAGACCTCACACTGCACACCCTCACACCAC ACACCCCAGACCTCACACTGCACACCCTCACACTGCACACCCGCACACTG CATACCCCGGACCTCACAATGCACACCCTCACACTGCATACTCCAGACCT CACACTGCACACCCTCACACTGCATACCC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(296): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTC TGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTC CGCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0083 a0001c0002t0075g0083	1	160	0.0063	303	c.135 others(322): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCT CACTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL29_chr2_23380179_23713606	23580308	C C	CTTGCAGT others(296): Show CTTGCAGTGAGCCGAAATCACGCCACTGCACTCCAGCCTGGGTGACAGAG TGAGACTCCGTCTCATAAAAAAAATCTAGCCCATTAGGCCAGGCGCAGTG GCTCACACCTGTAATCCCAGTGCTTTAGGAGGCTGAGGCAGGTGGATCAC AAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTTGTCTC TACTAAGAATACAAAAAATTAGCTTAGCGTGGTGGCAGGCGCCTGTAGTC CTAGCTACTCAGGAGGCTGAGGCAACAGGATTGCTTGAACCCAGGAGGAG GAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp2 HG02486.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0018 a0001c0004 a0001c0018	a0001c0004t0023 a0001c0018t0024 a0001c0004t0023 a0001c0018t0024	a0001c0004t0023g0060 a0001c0018t0024g0059 a0001c0004t0023g0060 a0001c0018t0024g0059	2	160	0.0125	303	c.285 others(322): Show c.285+17841_285+17842insAATCACGCCACTGCACTCCAGCCTGG GTGACAGAGTGAGACTCCGTCTCATAAAAAAAATCTAGCCCATTAGGCCA GGCGCAGTGGCTCACACCTGTAATCCCAGTGCTTTAGGAGGCTGAGGCAG GTGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAA CCTTGTCTCTACTAAGAATACAAAAAATTAGCTTAGCGTGGTGGCAGGCG CCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAACAGGATTGCTTGAACC CAGGAGGAGGAGGTTGCAGTGAGCCGA	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(296): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19077.hp1 NA19011.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0338 a0001c0001t0003g0371 a0001c0001t0003g0338 a0001c0001t0003g0371	2	400	0.0050	303	c.997 others(320): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LAMA5_chr20_62304065_62372312	62349805	T T	TGGTGGGG others(296): Show TGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGATG GTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGG GGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGG TGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA20905.hp2 HG04199.hp1 NA20905.hp2	a0001 a0037 a0001 a0037	a0001c0015 a0037c0044 a0001c0015 a0037c0044	a0001c0015t0001 a0037c0044t0001 a0001c0015t0001 a0037c0044t0001	a0001c0015t0001g0166 a0037c0044t0001g0167 a0001c0015t0001g0166 a0037c0044t0001g0167	2	186	0.0108	303	c.956 others(320): Show c.956+1898_956+1899insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTC TACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCAC CGCCATCACCGTCATCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349805	T T	TGGTGGGG others(296): Show TGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGG GTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGG GGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGG TGGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0151 a0015c0020t0001g0151	1	186	0.0054	303	c.956 others(320): Show c.956+1898_956+1899insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCAC CGCCATCACCGTCATCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LGI2_chr4_24993847_25035946	25017850	T T	TAGAATGT others(296): Show TAGAATGTTTACCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCACCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18979.hp1 NA19057.hp1 others(1): Show NA18964.hp1 NA18979.hp1 NA19057.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0013 a0001c0001t0019	a0001c0001t0013g0155 a0001c0001t0013g0157 a0001c0001t0013g0358 others(1): Show a0001c0001t0013g0155 a0001c0001t0013g0157 a0001c0001t0013g0358 a0001c0001t0019g0158	4	454	0.0088	303	c.655 others(318): Show c.655+138_655+139insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTC CCAAAGTGCTGGGTAAACATTCT	LGI2	ENSG00000153012.12	transcript	ENST00000382114.9	protein_coding	6/7			chr4	TogoVar
LHFPL3_chr7_104323603_104913561	104833044	T T	TATAATAG others(296): Show TATAATAGATATATTATATATATATAATATATAATAGATATATTATAGAT ATATTATATATAATAGATATATTATATATATTATATATAATAGATATATT ATATATATATTATATATAATAGATATATTATATATATATTATATATAATA GATATATTATATATATATTATATATAATAGATATATTATATATATTATAT ATAATAGATATATTATATATATTATATATAATAGATATATTATATATATA TTATATATAATAGATATATTATATATATATTATATATAATAGATATATAT TATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0008 a0001c0002t0012g0008	1	86	0.0116	303	c.683 others(322): Show c.683-73143_683-73142insATAATAGATATATTATATATATATAA TATATAATAGATATATTATAGATATATTATATATAATAGATATATTATAT ATATTATATATAATAGATATATTATATATATATTATATATAATAGATATA TTATATATATATTATATATAATAGATATATTATATATATATTATATATAA TAGATATATTATATATATTATATATAATAGATATATTATATATATTATAT ATAATAGATATATTATATATATATTATATATAATAGATATATTATATATA TATTATATATAATAGATATATATTATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHPP_chr10_124456823_124619141	124471627	T T	TATATATT others(296): Show TATATATTTATATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATATATTTTTATATATATT TATATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATA TTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATA TAGTTATATATATAGTTATATATATATATTTTTATATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATTTATATA TGTA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	260	0.0039	303	c.125 others(320): Show c.125+9640_125+9641insATATATTTATATATATTTATATATATTT ATATATATATTTATATATATATTTATATATATATTTATATATATTTATAT ATATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATAT ATTTATATATAGTTATATATATTTATATATAGTTATGTATAGTTATATAT AGTTATATATATAGTTATATATAGTTATATATATAGTTATATATATATAT TTTTATATATATATTTATATATATTTATATATATTTATATATATTTATAT ATATATTTATATATTTATATATGTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124610591	T T	TGAGGGTG others(296): Show TGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAG CGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGT GAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGC GGGTGAGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTG CGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGATGGAGCGGGTGA GGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0259 a0003c0003t0002g0259	1	260	0.0039	303	c.717 others(320): Show c.717-2672_717-2671insAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGAGGGTGC TGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GTGCGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAG GGTGCTGATGGAGCGGGTGAGGGAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858237	G G	GAGTGGTG others(296): Show GAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCG TGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTC TCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACG GGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0003 a0004c0043t0003	a0004c0043t0003g0119 a0004c0043t0003g0119	1	294	0.0034	303	c.153 others(322): Show c.1530-3532_1530-3531insGCACACCCATCCCGAGACACCACTCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGTGACACCACTCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCC GAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGA CACCACGCACACCCATCCCGAGACACCACGCACACCCATCCCGTGACACC ACTGCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858342	T T	TCGGGATG others(296): Show TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGAT GGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GCAGTGATGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGACTGGT GTCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0003 a0004c0029t0003	a0004c0029t0003g0203 a0004c0029t0003g0203	1	294	0.0034	303	c.153 others(322): Show c.1530-3637_1530-3636insTGACACCAGTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACATCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGTGACACCACTCACACCCATCCCGTGACACCACTCACACCCAT CCCGAGACACCACTCACACCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859375	T T	TCGGGGTG others(296): Show TCGGGGTGGGTGTGACTGGTGTCTCGGGACGGTTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAG TGATGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTCGT GTCA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0074 a0001c0008t0001g0074	1	294	0.0034	303	c.153 others(322): Show c.1530-4670_1530-4669insTGACACGACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGTGACATCACTCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACATCAC TCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACAACCGT CCCGAGACACCAGTCACACCCACCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859381	T T	TGGGTGTG others(296): Show TGGGTGTGACTGGTGTCTCGGGACGGTTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTCGTGTCACG GGAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0087	1	294	0.0034	303	c.153 others(322): Show c.1530-4676_1530-4675insGTCCCGTGACACGACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACATCACTCACACCCGTCCCGT GACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGA CATCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAAC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCAC AACCGTCCCGAGACACCAGTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(296): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTTCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGT TCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCA GGTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0083 a0001c0001t0000g0083	1	462	0.0022	303	c.106 others(320): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCT GTGTGTGCGGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTG TGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACC TGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGT GTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGAC CTGTGTGTGCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(296): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGT TCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCA GGTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0081 a0001c0001t0000g0081	1	462	0.0022	303	c.106 others(320): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCT GTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTG TGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACC TGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGT GTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGAC CTGTGTGTGCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LRRTM4_chr2_76742685_77527376	76824604	T T	TGAGATTG others(296): Show TGAGATTGAAGTTGAATGGTTTATAATGTTATTTATTAAAACAACAAGAC ATGCATCATGTATTATAGAAAGTAATACATGCATGTTCTTATGTTTTATT TTTAAGTGCTATTTTATATAAATTTAACAATATTTGTAACATATACATGG CAAACATTCTCCAACATTTTCTCTGCTCTTTGACTTTTATTTTTTGATAT CTAGAAGACTTAATGTGTATATCACTAAAACAATCAGTGAATCCCCTTTC TTATGCTTTTATTTTGCTTATTGTTGTTGAAGAACTTGACTCTCATTCTC AATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02965.hp1 HG01891.hp2 HG02717.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0002g0018 a0001c0001t0002g0122 a0001c0001t0001g0014 a0001c0001t0002g0018 a0001c0001t0002g0122	3	128	0.0234	303	c.155 others(324): Show c.1552-75689_1552-75688insCATTGAGAATGAGAGTCAAGTTCT TCAACAACAATAAGCAAAATAAAAGCATAAGAAAGGGGATTCACTGATTG TTTTAGTGATATACACATTAAGTCTTCTAGATATCAAAAAATAAAAGTCA AAGAGCAGAGAAAATGTTGGAGAATGTTTGCCATGTATATGTTACAAATA TTGTTAAATTTATATAAAATAGCACTTAAAAATAAAACATAAGAACATGC ATGTATTACTTTCTATAATACATGATGCATGTCTTGTTGTTTTAATAAAT AACATTATAAACCATTCAACTTCAATCTC	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
MAN2A1_chr5_109684927_109874625	109783739	T T	TTTAAATA others(296): Show TTTAAATAAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG02922.hp2 others(7): Show HG02280.hp1 HG02717.hp2 HG02922.hp2 HG03098.hp2 HG03209.hp1 HG03471.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0015 a0001c0004t0004 a0001c0004t0015	a0001c0004t0004g0001 a0001c0004t0004g0041 a0001c0004t0004g0042 others(6): Show a0001c0004t0004g0001 a0001c0004t0004g0041 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0047 a0001c0004t0004g0048 a0001c0004t0015g0040	10	296	0.0338	303	c.157 others(320): Show c.1578-991_1578-990insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCTTAAATAAGTTTTT	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2B2_chr4_6570189_6628362	6578998	T T	TACCATCA others(296): Show TACCATCACCACCACCACCACCATCACCATCACCACTACCACCATCACCA CCATCACCACCACCATCACCATCACCACCACCACCACCACCATCACCATC ACCAGCACCACCACCATCACCATCACCACTACCACCACCACCACCATCAC CACCACCATCACCATCACCACCACCACCACCACCATCACCATCACCAGCA CCACCACCATCACCACCATCACCACCACCACCACCACCATCACCATCACC AGCACCACCACCATCACCATCACCACCACCACCACCACCATCACCATCAC CATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01433.hp1 HG02683.hp1 HG00099.hp1 HG01433.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	3	362	0.0083	303	c.391 others(318): Show c.391+588_391+589insCCATCACCATCACCAGCACCACCACCATCA CCATCACCACTACCACCACCACCACCATCACCACCACCATCACCATCACC ACCACCACCACCACCATCACCATCACCAGCACCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCATCACCAGCACCACCACCATCACCA TCACCACCACCACCACCACCATCACCATCACCATCACCATCACCACCACC ACCACCATCACCATCACCACTACCACCATCACCACCATCACCACCACCAT CACCATCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(296): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCA CCAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	362	0.0028	303	c.391 others(318): Show c.391+838_391+839insTCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(296): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCCTTT CCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTT CCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCC TCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCC TACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCCTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTCCTTCCTTC CTTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	298	0.0034	303	c.52- others(318): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCC CTCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTC CCTCCCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTT CCCTCCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCCTCTTC CTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTCCT TCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
METRNL_chr17_83074609_83100122	83090442	C C	CCCCCGCC others(296): Show CCCCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCCGC CCCACACACACACACCCCCCCACACACACCCCCCGCCCCACACACACACC CCCCGCCCCACACACACACACCCCCGCCCCACACACACACCCCCCGCCCC ACACACACACACCCCCGCCCCACACACACACCCCCCGCCCCACACACACA CCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACCCCCCGCC CCACACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACA CACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	399	0.0025	303	c.557 others(320): Show c.557-2721_557-2720insGCCCCACACACACACACCCCCGCCCCAC ACACACACACCCCCCGCCCCACACACACACACCCCCCCACACACACCCCC CGCCCCACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACA CACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACCC CCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCA CACACACACCCCCCGCCCCACACACACACCCCCGCCCCACACACACACAC CCCCCGCCCCACACACACACACCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL16_chr17_2411049_2516888	2448182	G G	GGCCGCCC others(296): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGGGGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGATGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTG CCCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0212 a0001c0001t0008g0212	1	298	0.0034	303	c.729 others(320): Show c.729-6624_729-6623insTGGGCAGAAGCGCCCCTCACCTCCCGGA TGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCATCCTCCCAGAC GGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC CCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGC	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9			chr17	TogoVar
MMACHC_chr1_45495300_45518382	45497794	C C	CGGGAGGT others(296): Show CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCC GTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0002 a0001c0001t0002g0003	2	386	0.0052	303	c.-25 others(314): Show c.-2539_-2538insGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGC CAGGCCAGCCGCCCCGTCT	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2505		chr1	TogoVar
MPPED1_chr22_43407014_43512848	43500130	G G	GTGATGGG others(296): Show GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGT GGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTG ATGGAGGTGGCGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGA TGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTG GTGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	1	250	0.0040	303	c.748 others(320): Show c.748+1782_748+1783insATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGT GATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(296): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATAATATA TATACATATTATATATTATATATATAATATATATACATATTATATATTAT ATATAATATATATACATATTATATATAATATATATACATATTATATTATA TATAATATATATACATATTATATATAATATATAATATATTACATATTATA TATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01517.hp2 HG01106.hp2 HG01123.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0235	3	332	0.0090	303	c.262 others(322): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATAATATATATACATATTATATATTATATATATAA TATATATACATATTATATATTATATATAATATATATACATATTATATATA ATATATATACATATTATATTATATATAATATATATACATATTATATATAA TATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(296): Show TTGTATATATTATATATAATATATACAATATTTATATATATTATATATAT TATATATAATATATACATATTATATATTATATATAATATATATACATATT ATATATTATATATATAATATATATACATATTATATATTATATATAATATA TATACATATTATATATTATATATATAATATATATACATATTATATATTAT ATATAATATATATACATATTATATATAATATATATACATATTATATTATA TATAATATATATACATATTATATATAATATATAATATATTACATATTATA TATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18948.hp2 NA18968.hp1 others(4): Show NA18946.hp1 NA18948.hp2 NA18968.hp1 NA18970.hp2 NA18998.hp1 NA19085.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(4): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0215 a0001c0001t0001g0265	7	332	0.0211	303	c.262 others(322): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTTATATATATTATATATATTATATATAATATATACATATTATATAT TATATATAATATATATACATATTATATATTATATATATAATATATATACA TATTATATATTATATATAATATATATACATATTATATATTATATATATAA TATATATACATATTATATATTATATATAATATATATACATATTATATATA ATATATATACATATTATATTATATATAATATATATACATATTATATATAA TATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(296): Show TTGTATATATTATATATAATATATATAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTATATATAT TATATATAATATATACAATATTTTATATATTATATATATTATATATAATA TATACATATTATATATTATATATAATATATATACATATTATATATTATAT ATATAATATATATACATATTATATATAATATATATACATATTATATTATA TATAATATATATACATATTATATATAATATATAATATATTACATATTATA TATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20129.hp1 HG03041.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0018 a0001c0004t0003g0019 a0001c0004t0003g0018 a0001c0004t0003g0019	2	332	0.0060	303	c.262 others(322): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATATA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTATATATATTATATATAATATATACAATATTTTATA TATTATATATATTATATATAATATATACATATTATATATTATATATAATA TATATACATATTATATATTATATATATAATATATATACATATTATATATA ATATATATACATATTATATTATATATAATATATATACATATTATATATAA TATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSLN_chr16_755734_773862	767540	G G	GCGTGGAG others(296): Show GCGTGGAGGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAGG GGCGAGCGGGAGGAGGGGCGCGTGGAGGGGGTGCGTGGAGGAGGGGCGCG TGGAGTGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGG GCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGCGTGGGGG GGCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	388	0.0026	303	c.159 others(318): Show c.1596+83_1596+84insGCGAGTGGAGGAGCCCCGGTGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGG AGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGAGGGGGTGCGTGGAGGAGG GGCGCGTGGAGTGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGG AGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCG CGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGCG TGGGGGGGCACGTGGAGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGGTGTGG others(296): Show GGGTGTGGAGGGGGGCGCGTGGGGGTGCGTGGGGGGGCACGTGGAGGGGG GGCGTGTGGGGGGTGCGTGGAGGAGGGGCGTGTGGAGGAGGGGCCCGTGG AGGAGGGGCGAGTGGGAGGAGGGGCGTGTGGAGGGGGGGCGAGTGGAGGA GCCCCGGTGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGC GGGAGGAGGGGCACGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGA GGAGGGGCGCGTGGAGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGAG GGGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0261 a0004c0006t0001g0261	1	388	0.0026	303	c.159 others(320): Show c.1596+322_1596+323insGTGTGGAGGGGGGCGCGTGGGGGTGCGT GGGGGGGCACGTGGAGGGGGGGCGTGTGGGGGGTGCGTGGAGGAGGGGCG TGTGGAGGAGGGGCCCGTGGAGGAGGGGCGAGTGGGAGGAGGGGCGTGTG GAGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAG CGGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(296): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	350	0.0029	303	c.-28 others(314): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYO1F_chr19_8515778_8582442	8544000	T T	TGGTGCTG others(296): Show TGGTGCTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTG GTGGTGCTGGTGGTGGTGGTGGTGCTGGTGCTGGTGGTGGTGGTGGTGCT GGTGGTGGTGGTGGTGCTGGTGCTGGTGGTGGTGGTGGTGCTGGTGCTGG TGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGCTG GTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGT GCTGGTGGTGGTGGTGGTGCTGGTGCTGGTGCTGGTGGTGGTGCTGGCGG TGGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	342	0.0029	303	c.152 others(320): Show c.1524+296_1524+297insGCCACCGCCAGCACCACCACCAGCACCA GCACCAGCACCACCACCACCACCAGCACCACCACCACCACCACCACCACC AGCACCACCACCACCACCACCACCACCAGCACCAGCACCACCACCACCAC CAGCACCACCACCACCACCACCACCACCAGCACCAGCACCACCACCACCA CCAGCACCAGCACCACCACCACCACCAGCACCACCACCACCACCAGCACC AGCACCACCACCACCACCAGCACCACCACCACCACCAGCACCACCACCAC CACCACCACCACCAGCACCAGCACC	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYT1_chr20_64159452_64247253	64175698	C C	CCTGTAGT others(296): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCT TTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	223	0.0045	303	c.-99 others(322): Show c.-99+10959_-99+10960insCTGTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCT CCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCC CCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCT CCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCT CCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(296): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0011 a0001c0001t0001g0074 a0001c0001t0001g0075	3	376	0.0080	303	c.98 others(312): Show c.980_*981insTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFV2_chr18_9097699_9139341	9110346	T T	TGATATTC others(296): Show TGATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	368	0.0027	303	c.55- others(318): Show c.55-7482_55-7481insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGGATATTCTTT	NDUFV2	ENSG00000178127.13	transcript	ENST00000318388.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(296): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19082.hp1 NA19011.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	430	0.0047	303	c.29 others(314): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(296): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	346	0.0029	303	c.373 others(320): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGTCTAGTTCTCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(296): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAA TGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGA GGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAA GGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGA GGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGA GGGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02970.hp2 NA19001.hp2 HG02074.hp2 HG02970.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017	a0001c0001t0008g0252 a0001c0001t0016g0262 a0001c0001t0017g0073 a0001c0001t0008g0252 a0001c0001t0016g0262 a0001c0001t0017g0073	3	304	0.0099	303	c.563 others(322): Show c.563-25477_563-25476insTCCCTCCCTCCCTCCCTCTCTCCCTC CCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCT CCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCC TTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCT CCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(296): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAG GAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGA GGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAG GGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGA GGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGA GGGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG02559.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0011 a0001c0001t0019	a0001c0001t0011g0147 a0001c0001t0019g0072 a0001c0001t0011g0147 a0001c0001t0019g0072	2	304	0.0066	303	c.563 others(322): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(296): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG GGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAA GGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAG GAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAG AGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGA GGGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19077.hp2 NA19060.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0243 a0001c0001t0005g0180 a0001c0001t0002g0243 a0001c0001t0005g0180	2	304	0.0066	303	c.563 others(322): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(296): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAA GGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGA GGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGA AGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGA AAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGAGAGGGAGGGA GGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	304	0.0033	303	c.563 others(322): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCTCTC CCTCCCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTT TCCTCCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTT CTCCTTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCT CCCTCCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(296): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG GGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAA GGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAG GAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAG AGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGA GGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG01243.hp1 others(13): Show HG00140.hp2 HG00673.hp1 HG01243.hp1 HG01884.hp1 HG02129.hp1 HG02165.hp1 HG02809.hp1 HG03130.hp1 HG03453.hp1 HG03490.hp1 HG03579.hp2 NA18973.hp2 NA18991.hp1 NA19003.hp2 NA19074.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0027 a0001c0001t0042 a0001c0001t0087 a0001c0001t0104 a0001c0001t0106 a0001c0001t0110	a0001c0001t0002g0267 a0001c0001t0003g0006 a0001c0001t0003g0008 others(13): Show a0001c0001t0002g0267 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0035 a0001c0001t0004g0188 a0001c0001t0006g0075 a0001c0001t0008g0234 a0001c0001t0010g0060 a0001c0001t0018g0218 a0001c0001t0019g0036 a0001c0001t0027g0053 a0001c0001t0042g0004 a0001c0001t0087g0290 a0001c0001t0104g0207 a0001c0001t0106g0099 a0001c0001t0110g0170	16	304	0.0526	303	c.563 others(322): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCGT CCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NOC4L_chr12_132139457_132157468	132149520	C C	CGCCGCCT others(296): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT ACCACACCCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	294	0.0034	303	c.901 others(318): Show c.901+633_901+634insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACCCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150056	A A	ATACCACA others(296): Show ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTTGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCC CCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCA CTCC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	294	0.0034	303	c.902 others(318): Show c.902-925_902-924insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTTGGTGAGTGCCGCCGCCTCGCT CATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NPAS3_chr14_32933879_33809173	33586234	A A	ATCAGATG others(296): Show ATCAGATGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0037 a0001c0001t0057g0037	1	92	0.0109	303	c.558 others(322): Show c.558+26035_558+26036insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGTCAGATGTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(296): Show AAAAAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0001 a0005c0027t0001	a0005c0027t0001g0150 a0005c0027t0001g0150	1	208	0.0048	303	c.-10 others(324): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39664490	C C	CCCTCTCC others(296): Show CCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCCCTCCCCCTCCCCCTCCCCTTCCCTCTCCCCTCCCCTCCCCTCCCCTC TCCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0107 a0001c0002t0062g0107	1	326	0.0031	303	c.433 others(320): Show c.433+1030_433+1031insAGGAGAGGGGAGGGGAGGGGAGGGGAGA GGGAAGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGGGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486322	T T	TAAAAAAT others(296): Show TAAAAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02615.hp2 others(3): Show HG02257.hp1 HG02258.hp1 HG02615.hp2 HG02723.hp1 HG03139.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0006 a0003c0003t0002 a0003c0003t0006	a0003c0003t0002g0118 a0003c0003t0006g0124 a0003c0003t0006g0125 others(3): Show a0003c0003t0002g0118 a0003c0003t0006g0124 a0003c0003t0006g0125 a0003c0003t0006g0127 a0003c0003t0006g0128 a0003c0003t0006g0131	6	276	0.0217	303	c.150 others(318): Show c.1500+48_1500+49insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCTGTTATTTATTTTTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar

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Search Results (Total: 10000 hits)