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
IRAG2_chr12_25047706_25113335	25077253	G G	GATATATA others(298): Show GATATATATGAAATATATATATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATCATATA TATATGAAATATATATATCATATATATATGAAATATATATATCATATATA TATGAAATATATATATCATATATATATGAAATATATATATCATATATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATGATATATGAAATATATATATGATATATGAAATATATATATGATATATA TATGAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0067 a0004c0004t0001g0067	1	344	0.0029	305	c.25- others(320): Show c.25-1983_25-1982insGAAATATATATATCATATATATATGAAATA TATATATGATATATATATGAAATATATATATCATATATATATGAAATATA TATATCATATATATATGAAATATATATATCATATATATATGAAATATATA TATCATATATATATGAAATATATATATCATATATATATGAAATATATATA TCATATATATATGAAATATATATATGATATATGAAATATATATATGATAT ATGAAATATATATGATATATGAAATATATATATGATATATGAAATATATA TATGATATATATATGAAATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
KATNIP_chr16_27545144_27785344	27558829	T T	TGATTGTG others(298): Show TGATTGTGTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	152	0.0066	305	c.7+8 others(318): Show c.7+8667_7+8668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAGATTGTGTCTGTTTT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNIP4_chr4_20723606_21953772	21532949	T T	TAAAAGCT others(298): Show TAAAAGCTAATTAATTAAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	80	0.0125	305	c.61+ others(324): Show c.61+415621_61+415622insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTTAATTAATTAGCTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KDELR3_chr22_38463096_38488447	38478136	G G	GAAAAAAA others(298): Show GAAAAAAAGACTGCTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	404	0.0025	305	c.193 others(322): Show c.193-1440_193-1439insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAGACTGCTTCG	KDELR3	ENSG00000100196.11	transcript	ENST00000216014.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIAA0232_chr4_6777727_6889164	6880061	G G	GTCTGCAG others(298): Show GTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTC CCAACACACAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGC AAACTCCCTTCCCAACACACAGATCTGCAGTGTCCCCTCACCATCTGTAC TGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCCCCTC ACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGC AGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACA CACAGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	362	0.0028	305	c.400 others(322): Show c.4009-666_4009-665insATCTGCAGTGTCCCCTCACCATCTGTAC TGTGTCACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTGTCCCCTC ACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGT AGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACA CAGAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTC CCTTCCCAACACACAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTC ACTGCAAACTCCCTTCCCAACACACAG	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0232_chr4_6777727_6889164	6880134	G G	GCCTCACC others(298): Show GCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGG TCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCC CAACACAGAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCA AACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCCCTCACCATCTGTACT GTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCGCCTCA CCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCA GTGTCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0030 a0006c0018t0030	a0006c0018t0030g0248 a0006c0018t0030g0248	1	362	0.0028	305	c.400 others(322): Show c.4009-486_4009-485insGAGGTCTGCAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCGC CTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTC TGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCA ACACAGAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAA CTCCCTTCCCAACACAGAGGTCTGCAGTGTCCCCTCACCATCTGTACTGT GTCACTGCAAACTCCCTTCCCAACACA	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0825_chr5_94145851_94623604	94608454	T T	TATATATA others(298): Show TATATATATATTATATATATATATTATATATATAATATATATTATATATA ATATATATAAAATATATATATTATATATATAATATATATTATATATATAA TATATATATATTATATATATAATATATATAAAATATATATTATATATATA ATATATATTATATATATAATATATATATTTTATATATATAATATATATTA TATATATAATATATATATTATATATATAATATATATTATATATATAAAAT ATATATATTATATATATAATATATATTATATATATAATATATATATTATA TATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0021 a0001c0001t0034g0021	1	54	0.0185	305	c.-15 others(326): Show c.-153+10045_-153+10046insTATATATATAATATATATATTATA TATATAATATATATTATATATATAATATATATATTTTATATATATAATAT ATATTATATATATAATATATATATTATATATATAATATATATTATATATA TAAAATATATATATTATATATATAATATATATTATATATATAATATATAT TTTATATATATTATATATATAATATATATATATTATATATATAATATATA TTATATATATAATATATATATTTTATATATATTATATATAATATATATTA TATATATAATATATATATATAATATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIF26B_chr1_245149985_245714432	245682399	G G	GCTGACTG others(298): Show GCTGACTGTATATGATCACAACCTAACTGAGCAGAACTCACCCTCCACTA CTCATGTAAGACCTGACTGTATATGATCACAACCTAACTGAGCAGAACTC ACCCTCCACTACTCATGTAAGACCTGACTGTATATGATCACAACCTAACT GAGCAGAACTCACCCTCCACTACTCATGTAAGACCTGACTGTATATGATC ACAACCTAACTGAGCAGAACTCACCCTCCACTACTCATGTAAGACCTGAC TGTATATGATCACAACCTAACTGAGCAGAACTCACCCTCCACTACTCATG TAAGAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0040 a0001c0004t0040	a0001c0004t0040g0096 a0001c0004t0040g0096	1	160	0.0063	305	c.225 others(324): Show c.2259-1785_2259-1481dupACTCATGTAAGACCTGACTGTATATG ATCACAACCTAACTGAGCAGAACTCACCCTCCACTACTCATGTAAGACCT GACTGTATATGATCACAACCTAACTGAGCAGAACTCACCCTCCACTACTC ATGTAAGACCTGACTGTATATGATCACAACCTAACTGAGCAGAACTCACC CTCCACTACTCATGTAAGACCTGACTGTATATGATCACAACCTAACTGAG CAGAACTCACCCTCCACTACTCATGTAAGACCTGACTGTATATGATCACA ACCTAACTGAGCAGAACTCACCCTCCACT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(298): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0351 a0001c0001t0009g0351	1	400	0.0025	305	c.997 others(322): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LGR6_chr1_202188799_202324761	202205230	C C	CACACCAC others(298): Show CACACCACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACACA CACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCCGT CCTTCAAACACACACACACCACACACACATCTAACACACACCTCCTTCAG ACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CATCTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	262	0.0038	305	c.212 others(324): Show c.212+11033_212+11034insCACACACCTAACACACACCTTCAAGC ACACACTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACCTAACACACCCGTCCTTCAAACACACACACACCACACACACATC TAACACACACCTCCTTCAGACACACACCTCCAAACACACACACACCTTAC ACACACCTTCAAACACACACACACACCTAACACACACCTCCTTCAAACAC ACACACCTCCAAACACACACATCTAACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LMF1_chr16_848634_975984	857751	G G	GAGTGGTG others(298): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGAC GGGTGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	294	0.0034	305	c.153 others(324): Show c.1530-3046_1530-3045insACACCCGTCCCGTGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG TGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGAC ACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858471	G G	GACTGGTG others(298): Show GACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC ACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGG GACGCGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19010.hp1 NA19091.hp2 NA18952.hp2 NA19010.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0178 a0001c0003t0001g0131 a0001c0003t0001g0250 a0001c0001t0001g0178 a0001c0003t0001g0131 a0001c0003t0001g0250	3	294	0.0102	305	c.153 others(324): Show c.1530-3766_1530-3765insACACCCGTCCCGTGACACCACTCACA CCCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACG CGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGAC ACCAGTCACACCCGTCCCGTGACACCAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858471	G G	GACTGGTG others(298): Show GACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGG GACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGAGTGGTGTCACGGGAC GGGTGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	294	0.0034	305	c.153 others(324): Show c.1530-3766_1530-3765insACACCCGTCCCGTGACACCACTCACA CGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACG CGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGAC ACCAGTCACACCCGTCCCGTGACACCAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858964	C C	CAGTGGTG others(298): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGG GATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19091.hp2 NA19010.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0178 a0001c0003t0001g0131 a0001c0001t0001g0178 a0001c0003t0001g0131	2	294	0.0068	305	c.153 others(324): Show c.1530-4259_1530-4258insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89398272	T T	TTACCTGT others(298): Show TTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACGCTGTGAA ACAGATGAAGACTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGG GACACTGTGAAACAGCTGAAGATTACCTGTGACCTCAGCACTCTGGGAGG CTGACATGAGGGACACTGTGAAACAGATGAAGACTACCTGTGACCTCAGC ACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAGATGAAGATTACCT GTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAGAT GAAGAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0008 a0001c0001t0000g0008	1	366	0.0027	305	c.9+2 others(320): Show c.9+20011_9+20012insGTCTTCATCTGTTTCACAGTGTCCCTCATG TCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCATCTGTTTCACAG TGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAGTCTTCAT CTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAG GTAATCTTCAGCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGC TGAGGTCACAGGTAGTCTTCATCTGTTTCACAGCGTCCCTCATGTCAGCC TCCCAGAGTGCTGAGGTCACAGGTA	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRRTM3_chr10_66921036_67106551	67025885	T T	TAAGAAAA others(298): Show TAAGAAAATGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01433.hp1 HG02622.hp1 others(7): Show HG01070.hp2 HG01433.hp1 HG02622.hp1 HG02717.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0025 a0001c0003t0007	a0001c0001t0001g0222 a0001c0001t0001g0238 a0001c0001t0001g0277 others(7): Show a0001c0001t0001g0222 a0001c0001t0001g0238 a0001c0001t0001g0277 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0015g0294 a0001c0001t0025g0160 a0001c0003t0007g0291 a0001c0003t0007g0292	10	294	0.0340	305	c.153 others(326): Show c.1537-71690_1537-71689insAGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAGAAAATGTGG	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(298): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATA AATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAATA TATAAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0065 a0065	a0065c0109 a0065c0109	a0065c0109t0002 a0065c0109t0002	a0065c0109t0002g0077 a0065c0109t0002g0077	1	152	0.0066	305	c.342 others(324): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATATAAATATATAACTATAATTTAT ATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAA ATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2A1_chr5_109684927_109874625	109783739	T T	TTTAAATA others(298): Show TTTAAATAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG02258.hp2 others(1): Show HG01106.hp1 HG01175.hp1 HG02258.hp2 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0029 a0001c0004t0004 a0001c0004t0029	a0001c0004t0004g0034 a0001c0004t0004g0036 a0001c0004t0004g0037 others(1): Show a0001c0004t0004g0034 a0001c0004t0004g0036 a0001c0004t0004g0037 a0001c0004t0029g0052	4	296	0.0135	305	c.157 others(322): Show c.1578-991_1578-990insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCTTAAATAAGTTTTT	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCATCACC others(298): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCATCACCACCACCACCATCACCACCATCACCATCACCACCACCACCA TCACCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0003 a0006c0016t0003	a0006c0016t0003g0271 a0006c0016t0003g0271	1	362	0.0028	305	c.391 others(320): Show c.391+746_391+747insATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCATCA CCATCACCACCACCACCATCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478057	A A	AGAGAGGG others(298): Show AGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGCGGGGAGAGAGGGGGGAG GGGGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGAGAGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGG GGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGGGGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	163	0.0061	305	c.525 others(322): Show c.525+8424_525+8425insCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCC CCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCTCCCCCC TCTCTCCCCCTCCCCCCTCTCTCCCCCCCTCCCCCCTCTCTCCCCGCTCC CCCCTCTCTCCCCCCTCTCCCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MCHR2_chr6_99913519_99999223	99933015	C C	CTACTATC others(298): Show CTACTATCTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03669.hp2 HG01358.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0100 a0001c0001t0017g0099 a0001c0001t0017g0100	2	316	0.0063	305	c.707 others(322): Show c.707+1382_707+1383insTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGAGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAGTAGATAGTA	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	5/5			chr6	TogoVar
MCTP2_chr15_94226561_94488952	94276661	T T	TAAGAAAT others(298): Show TAAGAAATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0042 a0003c0009t0042	a0003c0009t0042g0276 a0003c0009t0042g0276	1	276	0.0036	305	c.-65 others(324): Show c.-65-21527_-65-21526insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAGAAATATTTGG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(298): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0358 a0003c0004t0008g0358	1	360	0.0028	305	c.-15 others(322): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(298): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	181	0.0055	305	c.107 others(324): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MKKS_chr20_10396009_10439222	10397258	T T	TAAAAAAG others(298): Show TAAAAAAGAACATAGTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTCAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02717.hp1 HG02976.hp2 others(3): Show HG01106.hp1 HG02717.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0025 a0002c0002t0028 others(1): Show a0002c0002t0015 a0002c0002t0025 a0002c0002t0028 a0002c0002t0029	a0002c0002t0015g0026 a0002c0002t0015g0081 a0002c0002t0025g0220 others(2): Show a0002c0002t0015g0026 a0002c0002t0015g0081 a0002c0002t0025g0220 a0002c0002t0028g0075 a0002c0002t0029g0063	6	390	0.0154	305	c.79 others(316): Show c.7988_*7989insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCACTATGTTCTTTTTT	MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding		3750		chr20	TogoVar
MLIP_chr6_54106443_54271280	54251553	A A	ATTATATA others(298): Show ATTATATATTTATATATTTATATATAATATATATTATATATTATATAATA TATATTATATAATATATAATATATATTATATTATATTATATATTATATTA TATAATATATAATATTATATATTATATTATATAATATATAATATTATATA TTATATTATATATTATATTATATAATATATAATATTATATATATTATATT ATATAATATATAATATTATATATATTATATTATATATTATATAATATATA ATATTATATATAATAACATAATATATAATATAAATATATATTATAGCATA TAATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0002 a0012c0010t0002	a0012c0010t0002g0034 a0012c0010t0002g0034	1	248	0.0040	305	c.292 others(324): Show c.2923-5755_2923-5754insTTATATATTTATATATTTATATATAA TATATATTATATATTATATAATATATATTATATAATATATAATATATATT ATATTATATTATATATTATATTATATAATATATAATATTATATATTATAT TATATAATATATAATATTATATATTATATTATATATTATATTATATAATA TATAATATTATATATATTATATTATATAATATATAATATTATATATATTA TATTATATATTATATAATATATAATATTATATATAATAACATAATATATA ATATAAATATATATTATAGCATATAATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13			chr6	TogoVar
MLLT3_chr9_20336669_20627499	20564340	T T	TAGAAAAG others(298): Show TAGAAAAGAGATGGCTCCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0183 a0001c0001t0038g0183	1	186	0.0054	305	c.193 others(324): Show c.193+56313_193+56314insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACC ACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGGAGCCATCTCTTTTCT	MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding	2/10			chr9	TogoVar
MLPH_chr2_237482251_237560322	237522260	A A	ACCTTCAA others(298): Show ACCTTCAAACACCTGCTACAACTATAGTGCTGGAGCGGAGCAGGGCTGAG ACTGGGGTTGGGCCTTCAAACACCTGCTACAACTATAGTGCTGGAGTGGA GCTGGGCTGAGACTGGGGTTGGGCCTTCAAACACCTGCTACAACTATAGT GCTGGAGCGGAGCAGGGCTGAGACTGGGGTTGGGCCTTCAAACACCTGTT ACAACTATAGTGCTGGAGCGGAGCAGGGCTGAGACTGGGGTTGGGCCTTC AAACACCTGCTACAACTATAGTGCTGGAGTGGAGCTGGGCTGAGACTGGG GTTGGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	286	0.0035	305	c.675 others(322): Show c.675+2306_675+2307insCTACAACTATAGTGCTGGAGTGGAGCTG GGCTGAGACTGGGGTTGGGCCTTCAAACACCTGCTACAACTATAGTGCTG GAGCGGAGCAGGGCTGAGACTGGGGTTGGGCCTTCAAACACCTGTTACAA CTATAGTGCTGGAGCGGAGCAGGGCTGAGACTGGGGTTGGGCCTTCAAAC ACCTGCTACAACTATAGTGCTGGAGTGGAGCTGGGCTGAGACTGGGGTTG GGCCTTCAAACACCTGCTACAACTATAGTGCTGGAGCGGAGCAGGGCTGA GACTGGGGTTGGGCCTTCAAACACCTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543318	G G	GGGACAGT others(298): Show GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACG GTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGATG GTGAGTGGGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTG GCAAGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0002 a0018c0021t0002	a0018c0021t0002g0255 a0018c0021t0002g0255	1	286	0.0035	305	c.153 others(322): Show c.1539+661_1539+662insACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGATGGTGAGTG GGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GGGATGGTGAGTGGGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGGAC AGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGGGGACAGTGGCAAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOB1A_chr2_74147528_74183879	74176270	T T	TGTCTCAA others(298): Show TGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGAGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp2 others(57): Show HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG02004.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02293.hp1 HG02717.hp1 HG02735.hp2 HG03041.hp1 HG03669.hp1 HG03688.hp2 NA18612.hp1 NA18949.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18998.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0045	a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0026 others(32): Show a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0026 a0001c0001t0003g0042 a0001c0001t0003g0212 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0270 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0021g0245 a0001c0001t0021g0251 a0001c0001t0045g0236	60	402	0.1493	305	c.14+ others(320): Show c.14+2390_14+2391insGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCGCTA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTT TTTTTTTTTTTTTTTTTTTTGAGAC	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MOB1A_chr2_74147528_74183879	74176270	T T	TGTCTCAA others(298): Show TGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp1 HG01243.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0041 a0001c0001t0006 a0001c0001t0041	a0001c0001t0006g0231 a0001c0001t0041g0224 a0001c0001t0006g0231 a0001c0001t0041g0224	2	402	0.0050	305	c.14+ others(320): Show c.14+2390_14+2391insGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTT TTTTTTTTTTTTTTTTTTTTGAGAC	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MOB1A_chr2_74147528_74183879	74176276	A A	AAAAAAAA others(298): Show AAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0274 a0001c0001t0049g0274	1	402	0.0025	305	c.14+ others(320): Show c.14+2384_14+2385insGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MYBL2_chr20_43662114_43721482	43682249	C C	CACATTCG others(298): Show CACATTCGAGTATTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC ACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02615.hp2 HG02738.hp2 HG02602.hp2 HG02615.hp2 HG02738.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0012	3	274	0.0110	305	c.186 others(320): Show c.186+408_186+409insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCTACATTCGAGTATTT	MYBL2	ENSG00000101057.16	transcript	ENST00000217026.5	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYDGF_chr19_4652545_4675342	4663221	C C	CAGCCTCC others(298): Show CAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTC CAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAATC TACCCTCCCCATCCACCCCGTCCTCATTCTACAGCCTCCAATCTACCCTC CCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCC GTCCTGTCCTCATTCTACACAGTCTCCAATCTACCCTCCCCACCCGTCCT GTCCACATTCTACACAGTCTCCAATCTACCCTCCCCACCCACCCCATCCT CATTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0044 a0002c0003t0002g0044	1	410	0.0024	305	c.287 others(322): Show c.287+1654_287+1655insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGACTGTGTAGAATGTGGACAGGACGGGTGGGGAGGGTAGAT TGGAGACTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAG GCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAG AATGAGGACGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAGAATGA GGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGG GTGGGTGGGGAGGGTAGATTGGAGGCT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(298): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGT CGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGG TAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTA GTGTTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20805.hp2 HG01496.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0193 a0001c0001t0005g0167 a0001c0001t0005g0193	2	384	0.0052	305	c.160 others(322): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCAC CACCACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(298): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGT GGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGA TGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTA GTGTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0141 a0001c0001t0009g0141	1	384	0.0026	305	c.160 others(322): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACGACTACCACCACCACCACCACTACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCACCAC CATCACCACCACCACCATCACCACCACCACCATCGCCGCCACCACCACCA CCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(298): Show AATATAAATATATAAAAATTTATATTTATATGTCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	305	c.-28 others(316): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATGTCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(298): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCC CTTTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTT CCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03041.hp2 HG02165.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0005 a0001c0002t0002 a0001c0005t0005	a0001c0002t0002g0020 a0001c0005t0005g0088 a0001c0002t0002g0020 a0001c0005t0005g0088	2	104	0.0192	305	c.153 others(322): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(298): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCTTCTCTTC CCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCT CCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCC TCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCC CTTTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTT CCTTTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0083 a0001c0006t0001g0083	1	104	0.0096	305	c.153 others(322): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(298): Show GGAGGGAGGGAAGAAGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAG GGACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGA GGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAG GGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGG AAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGG AGGGAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0159 a0001c0005t0002g0159	1	348	0.0029	305	c.887 others(322): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTCCCT CCCTCCTCCCTCCTTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(298): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGA GGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAG GGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGG AAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGG AGGGAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp1 HG01175.hp2 HG01433.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0002 a0004c0021t0002	a0004c0021t0002g0281 a0004c0021t0002g0327 a0004c0021t0002g0281 a0004c0021t0002g0327	2	348	0.0058	305	c.887 others(322): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCGTCCCTCCTCCCTCC CTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTCCCT CCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(298): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAG GGACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGA GGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAG GGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGG AAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGG AGGGAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00597.hp2 others(51): Show HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01943.hp1 HG01952.hp1 HG02071.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02735.hp1 HG02922.hp1 HG03017.hp1 HG03453.hp2 HG03669.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18945.hp1 NA18952.hp1 NA18954.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19011.hp1 NA19043.hp2 NA19060.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0004 others(7): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0014 a0001c0036 a0001c0043 a0002c0040 a0005c0020	a0001c0002t0001 a0001c0002t0003 a0001c0003t0007 others(20): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0007 a0001c0004t0004 a0001c0004t0034 a0001c0004t0035 a0001c0004t0072 a0001c0004t0075 a0001c0004t0080 a0001c0005t0002 a0001c0005t0012 a0001c0005t0031 a0001c0005t0032 a0001c0005t0068 a0001c0005t0069 a0001c0005t0070 a0001c0012t0033 a0001c0014t0002 a0001c0014t0012 a0001c0036t0032 a0001c0043t0002 a0002c0040t0058 a0005c0020t0076	a0001c0002t0001g0230 a0001c0002t0003g0157 a0001c0003t0007g0083 others(51): Show a0001c0002t0001g0230 a0001c0002t0003g0157 a0001c0003t0007g0083 a0001c0004t0004g0042 a0001c0004t0004g0182 a0001c0004t0004g0233 a0001c0004t0034g0212 a0001c0004t0034g0332 a0001c0004t0035g0137 a0001c0004t0035g0241 a0001c0004t0072g0231 a0001c0004t0075g0103 a0001c0004t0080g0138 a0001c0005t0002g0016 a0001c0005t0002g0056 a0001c0005t0002g0067 a0001c0005t0002g0076 a0001c0005t0002g0097 a0001c0005t0002g0123 a0001c0005t0002g0132 a0001c0005t0002g0135 a0001c0005t0002g0141 a0001c0005t0002g0142 a0001c0005t0002g0150 a0001c0005t0002g0168 a0001c0005t0002g0194 a0001c0005t0002g0198 a0001c0005t0002g0204 a0001c0005t0002g0210 a0001c0005t0002g0211 a0001c0005t0002g0220 a0001c0005t0002g0223 a0001c0005t0002g0234 a0001c0005t0002g0265 a0001c0005t0002g0277 a0001c0005t0002g0278 a0001c0005t0002g0304 a0001c0005t0002g0339 a0001c0005t0012g0059 a0001c0005t0012g0273 a0001c0005t0031g0173 a0001c0005t0031g0232 a0001c0005t0032g0145 a0001c0005t0068g0226 a0001c0005t0069g0309 a0001c0005t0070g0311 a0001c0012t0033g0294 a0001c0012t0033g0295 a0001c0014t0002g0321 a0001c0014t0012g0263 a0001c0036t0032g0115 a0001c0043t0002g0053 a0002c0040t0058g0055 a0005c0020t0076g0244	54	348	0.1552	305	c.887 others(322): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTCCCT CCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(298): Show CAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	376	0.0027	305	c.98 others(314): Show c.980_*981insTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTTTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(298): Show TGACTCCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACGACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	444	0.0023	305	c.187 others(322): Show c.187-1801_187-1800insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(298): Show TGACTCCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACGACAGG CGCCTGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02486.hp1 others(12): Show HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0038 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091	15	444	0.0338	305	c.187 others(322): Show c.187-1801_187-1800insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACGACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(298): Show TGACTCCTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	444	0.0023	305	c.187 others(322): Show c.187-1801_187-1800insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGGCTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(298): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	305	c.29 others(316): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEK5_chr13_52028611_52134073	52046481	T T	TAAAAAAA others(298): Show TAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGC TAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0053 a0001c0001t0031g0053	1	334	0.0030	305	c.222 others(324): Show c.2228+3622_2228+3623insTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTTTTTT	NEK5	ENSG00000197168.14	transcript	ENST00000684899.1	protein_coding	23/23			chr13	TogoVar
NFILZ_chr19_8625633_8686151	8656420	C C	CTTCTCTC others(298): Show CTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCC CCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTACA GCCCACCTTGTGCACAAAGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCC AGAAACCCTCCTGCCTTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCCC TTCTCCCCACAGCCCACCTCCTCCCGCAGCCCACCTCCTCCCTGAAGCCC ACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCTGAAG CCCCCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	366	0.0027	305	c.-16 others(326): Show c.-163-18130_-163-18129insTCTCTCTGAAGCCCACCTCCTCCC GCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGT TCTCCCTGCAGCCCACCTTCTCCCAGAAACCCTCCTGCCTTCTCCACGCA GCCCATCTTCTCTCTGAAGCCCCCTTCTCCCCACAGCCCACCTCCTCCCG CAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCACAGCCCACCTCCTCC CTGAAGCCCACCTCCTCCCTGAAGCCCCCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(298): Show CTGTATATGTGTACAGTATGTATACTGCGTACAGCATGTATACTGTATAT ATGTACAGTATGTATACTGTATATATGTACAGTATGTATACTGTATACAG CATGTATACTGTATACAGCATGTATACTGTATACAGCATGTATACTGTAT ACAGCATGTATACTGTATATATGTACAGTATGTATACCGTATACAGCATG TATACTGTATATATGTACAGTATGTATACCGTATACAGTATGTATACCGT ATACATATACAGTATGTATACCGTATACAGTATGTATACCGTATATATAC ACAGTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01978.hp2 HG01433.hp1 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0003g0298 a0001c0003t0002g0303 a0001c0002t0003g0298 a0001c0003t0002g0303	2	362	0.0055	305	c.-75 others(324): Show c.-75+17711_-75+17712insTACTGTGTATATATACGGTATACATA CTGTATACGGTATACATACTGTATATGTATACGGTATACATACTGTATAC GGTATACATACTGTACATATATACAGTATACATGCTGTATACGGTATACA TACTGTACATATATACAGTATACATGCTGTATACAGTATACATGCTGTAT ACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTATACATACT GTACATATATACAGTATACATACTGTACATATATACAGTATACATGCTGT ACGCAGTATACATACTGTACACATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar

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Search Results (Total: 10000 hits)