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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Select column to sort.

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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
DYSF_chr2_71461699_71691763	71618604	G G	GGTGTGTG others(548): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGT GTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGT GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTG GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG GGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTTTGTGTGGGGTAG AGTTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0083 a0001c0067t0001g0083	1	208	0.0048	555	c.446 others(574): Show c.4465-1940_4465-1939insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGT AGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGA TGTGTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT AGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG TGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG TGTGTGTTTGTGTGGGGTAGAGTTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP3_chr3_108584722_108699840	108633721	C C	CTCTCTCT others(548): Show CTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGA TCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTAC TTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCT CTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATC TATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTT CTGATAGATCTCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCT CTCTCTCTGGATCTATCAGAATACTTCTGATAGATCTCTCTCTCTGGATC TATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTT CTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCT CTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTA TCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCT GATAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0010 a0001c0004t0010g0010	1	318	0.0031	555	c.816 others(570): Show c.816+658_816+659insGGATCTATCAGAGTACTTCTGATAGATCTC TCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCT ATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTC TGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTC TCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTAT CAGAGTACTTCTGATAGATCTCTCTCTCTCTGGATCTATCAGAGTACTTC TGATAGATCTCTCTCTCTGGATCTATCAGAATACTTCTGATAGATCTCTC TCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTAT CAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTG ATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTC TCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCA GAGTACTTCTGATAGATCTCTCTCT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(548): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA GGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAA GGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00642.hp2 others(49): Show HG00099.hp1 HG00323.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01169.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG02040.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp1 NA18906.hp2 NA18961.hp2 NA18965.hp2 NA19007.hp1 NA19240.hp1 NA20805.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0010 a0011 a0021 a0030	a0002c0002 a0002c0019 a0002c0037 others(8): Show a0002c0002 a0002c0019 a0002c0037 a0002c0038 a0004c0012 a0005c0004 a0005c0045 a0010c0011 a0011c0015 a0021c0036 a0030c0032	a0002c0002t0001 a0002c0002t0004 a0002c0019t0001 others(9): Show a0002c0002t0001 a0002c0002t0004 a0002c0019t0001 a0002c0037t0001 a0002c0038t0001 a0004c0012t0001 a0005c0004t0001 a0005c0045t0001 a0010c0011t0001 a0011c0015t0001 a0021c0036t0001 a0030c0032t0001	a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 others(49): Show a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0129 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0004g0288 a0002c0002t0004g0289 a0002c0019t0001g0124 a0002c0019t0001g0125 a0002c0037t0001g0119 a0002c0038t0001g0260 a0004c0012t0001g0094 a0004c0012t0001g0095 a0004c0012t0001g0134 a0005c0004t0001g0020 a0005c0004t0001g0093 a0005c0004t0001g0107 a0005c0004t0001g0108 a0005c0004t0001g0127 a0005c0004t0001g0131 a0005c0004t0001g0132 a0005c0004t0001g0135 a0005c0004t0001g0136 a0005c0004t0001g0137 a0005c0004t0001g0234 a0005c0045t0001g0101 a0010c0011t0001g0096 a0010c0011t0001g0098 a0010c0011t0001g0112 a0010c0011t0001g0113 a0010c0011t0001g0114 a0011c0015t0001g0099 a0011c0015t0001g0100 a0011c0015t0001g0102 a0021c0036t0001g0138 a0030c0032t0001g0126	52	290	0.1793	555	c.757 others(572): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT TCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCC CTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCT TCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCT CCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCC TTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCC CTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTC CTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(548): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAG GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA GGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAA GGAGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0023 a0023	a0023c0034 a0023c0034	a0023c0034t0001 a0023c0034t0001	a0023c0034t0001g0082 a0023c0034t0001g0082	1	290	0.0035	555	c.757 others(572): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT TCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTT CCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCC TACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCT TCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCT CCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCC TTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCC CTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTC CTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EIPR1_chr2_3183970_3382818	3315794	A A	ACACACCC others(548): Show ACACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCACCATC CCCATC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	250	0.0040	555	c.259 others(574): Show c.259+22222_259+22223insGATGGGGATGGTGGTGAGGATGGTGG TAGGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(548): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCTATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	250	0.0040	555	c.259 others(574): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(548): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	250	0.0040	555	c.259 others(574): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(548): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCTATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19066.hp1 NA19011.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0006 a0001c0001t0003g0007	2	250	0.0080	555	c.259 others(574): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315942	C C	CCACACCC others(548): Show CCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCTATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	250	0.0040	555	c.259 others(574): Show c.259+22074_259+22075insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGAGGATGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(548): Show GTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0124 a0003c0002t0001g0124	1	288	0.0035	555	c.190 others(574): Show c.1909+7349_1909+7350insATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGATGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EPS8L1_chr19_55070869_55092923	55078251	T T	TGCTGGGG others(548): Show TGCTGGGGGCCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACTCCTGGGTCA GAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGA CTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCT GGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACT CCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGG GAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGG GGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCC TGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGA AGAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	340	0.0029	555	c.58+ others(568): Show c.58+131_58+132insCCTGGACTCCTAGGTTTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACT CCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGG GAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGG GGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCC TAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGA AGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGG GGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTA GGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAG AGGTGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGG CTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGG TCAGAGGGAAGAGGGGCTGGGGG	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(548): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCC TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAG CGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTC CAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGA TGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCG TGCTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0006 a0006c0025t0006	a0006c0025t0006g0067 a0006c0025t0006g0067	1	292	0.0034	555	c.571 others(572): Show c.571+4977_571+4978insTCAGCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTG GAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACG CTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATC AGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGA GGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCT TGGAGCACATCAGAATCACCTGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261947	G G	GTGACCCT others(548): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCATGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18986.hp1 NA18957.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0268 a0001c0001t0001g0150 a0001c0001t0001g0268	2	292	0.0069	555	c.571 others(572): Show c.571+4610_571+4611insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCATGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261947	G G	GTGACCCT others(548): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18974.hp2 NA19091.hp2 NA18947.hp2 NA18974.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0119 a0001c0001t0001g0232 a0001c0001t0010g0279 a0001c0001t0001g0119 a0001c0001t0001g0232 a0001c0001t0010g0279	3	292	0.0103	555	c.571 others(572): Show c.571+4610_571+4611insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(548): Show TATATAAATATATATAAATATATAAAAATATATAAATATATAAATATATA AAAATATATAAATACATAAATATATAAATATATAAATATATAAATATATA AATATATATACATAAATATATAAATATATAAATATATAAATACATAATAT ATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAAA ATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATATAC ACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAAT ATATATTATATATAAATATATAATATATAAATATATATAAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATACAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATACAATATATAAATATATATAAATATATA CAATATATAAATATATATAAATATATACAATATATAAATATATATAAATA TATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	344	0.0029	555	c.617 others(572): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTGTATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTTATATATATTT ATATATTATATATTTATATATAATATATATTTATATATTTTTATATATAT TTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTT TATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTT ATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTTA TATATTTATATATTTATGTATATATATTTATATATTTATATATTTATATA TTTATATATTTATGTATTTATATATTTTTATATATTTATATATTTATATA TTTTTATATATTTATATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(548): Show TATATAAATATATATAAATATATAAAAATATATAAATATATAAATATATA AAAATATATAAATACATAAATATATAAATATATAAATATATAAATATATA AATATATATACATAAATATATAAATATATAAATATATAAATACATAATAT ATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAAA ATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATATAC ACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAAT ATATATTATATATAAATATATAATATATAAATATATATAAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATACAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATACAATATATAAATATATATAAATATATA TAATATATAAATATATATAAATATATACAATATATAAATATATATAAATA TATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	344	0.0029	555	c.617 others(572): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTATATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTTATATATATTT ATATATTATATATTTATATATAATATATATTTATATATTTTTATATATAT TTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTT TATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTT ATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTTA TATATTTATATATTTATGTATATATATTTATATATTTATATATTTATATA TTTATATATTTATGTATTTATATATTTTTATATATTTATATATTTATATA TTTTTATATATTTATATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(548): Show TATATAAATATATATAAATATATAAATATATAAAAATATATAAATATATA AATATATAAAAATATATAAATACATAAATATATAAATATATAAATATATA TACATAAATATATAAATATATAAATATATAAATATATAAATACATAATAT ATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAAA ATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATATAC ACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAAT ATATATTATATATAAATATATAATATATAAATATATATAAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATACAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATACAATATATAAATATATATAAATATATA TAATATATAAATATATATAAATATATACAATATATAAATATATATAAATA TATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18978.hp2 HG03942.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0206 a0001c0001t0002g0169 a0001c0001t0002g0206	2	344	0.0058	555	c.617 others(572): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTATATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTTATATATATTT ATATATTATATATTTATATATAATATATATTTATATATTTTTATATATAT TTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTT TATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTT ATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTTA TATATTTATATATTTATATATTTATGTATATATATTTATATATTTATATA TTTATGTATTTATATATTTTTATATATTTATATATTTATATATTTTTATA TATTTATATATTTATATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(548): Show CCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCC CGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAG TCCGCACTGCCCCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCC GCAACCCTCCCAGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCG CTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTC CCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCCCACTGCCCCGC ACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCT CACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCC CACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCCCACTGCCCCGCAC CCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCA CCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCCCA CTGCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	390	0.0026	555	c.145 others(572): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGCA GGTGAGCGGGGAGGGGTGCGAGGCAGTGGGGACCGCAGGTGAGCCGGGAG GGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAG TGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGCAGG TGAGCGGGGAGGGGTGCGAGGCAGTGGGGACCGCAGGTGAGCCGGGAGGG GTGCGGGGCAGTGCGGACCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTG CGGACTGCAGGTGAGCTGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTG AGCTGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGT GCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGTTGCGGGGCAGTGCG GAGCGCAGGTGAGCTGGGAGGGGTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GLB1L3_chr11_134271379_134324564	134308475	T T	TACCACCA others(548): Show TACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCACCA CCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCACCACC ACCACTATCACCACCATCACCATCACCACCATCACCATCACCACCATCAC CATCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCAC CACCATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCAAATACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATG TCCACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCAT CACCATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCA CCATCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	422	0.0024	555	c.962 others(572): Show c.962-1138_962-1137insCCATGTCCACCACCACTACCACCACCAT CACCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCA CCACCACCACCACTATCACCACCATCACCATCACCACCATCACCATCACC ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACC ACTACCACCACCATCACCATCACCACCACCACCATCATCACCATCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCAAATACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCAAATACCACCACCA CCACCATGTCCACCACCACTACCACCACCATCACCATCACCACCACCACC ACCACCATCACCATCACCATCATCACCATCACCTCCACCACCACCACCAC TATCACCACCATCACCATCACCACCATCACCACCATCACCATCACCACCA CCACCACCATCACCACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLOD4_chr17_754330_787280	768444	A A	AAGAGGGA others(548): Show AAGAGGGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAGG ACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGA GAGGATGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAA GTCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGA AGAAGAAATCTGGAGAGGATGTGTGAGAGAGAAACAGCGTGCACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACGGCGCACACTC AGATTTTTAGAAGAAGAAATCTGGAGAGGATGTGTCAGAGAGAAACAGCG CGCACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAAC AGGGCGCACTCAGATTTTTAGAAGAAGAAATCTGAAGAGGACGTGAGAGA GAGAAACAGCGCGCGCTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACG TAAGAGAGAGAAACAGCGCGCGCTCAGATTTTTAGAAGAAATCTGGAGAG GACATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	420	0.0024	555	c.831 others(572): Show c.831+1424_831+1425insCATGTCCTCTCCAGATTTCTTCTAAAAA TCTGAGCGCGCGCTGTTTCTCTCTCTTACGTCCTCTCCAGATTTCTTCTT CTAAAAATCTGAGCGCGCGCTGTTTCTCTCTCTCACGTCCTCTTCAGATT TCTTCTTCTAAAAATCTGAGTGCGCCCTGTTTCTCTCTCTCACATCCTCT CCAGATTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTGACACATC CTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGTGCGCCGTTTCTCTCTC TCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCACGCTGTTTCTC TCTCACACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCGCGCT GTTTCTCTCTCTCACGTCCTCTCCAGACTTCTTCTTCTAAAAATCTGAGT GCGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTCTAAAAATCT GAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAA ATCTGAGTGCGCGCTGTTTCTCCCTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD4_chr17_754330_787280	768444	A A	AAGAGGGA others(548): Show AAGAGGGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAGG ACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGA GAGGATGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAA GTCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGA AGAAGAAATCTGGAGAGGATGTGTGAGAGAGAAACAGCGTGCACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACGGCGCACACTC AGATTTTTAGAAGAAGAAATCTGGAGAGGATGTGTGAGAGAGAAACAGCG CGCACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAAC AGGGCGCACTCAGATTTTTAGAAGAAGAAATCTGAAGAGGACGTGAGAGA GAGAAACAGCGCGCGCTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACG TAAGAGAGAGAAACAGCGCGCGCTCAGATTTTTAGAAGAAATCTGGAGAG GACATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00642.hp1 others(44): Show HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp2 HG02055.hp2 HG02738.hp1 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04204.hp1 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18960.hp2 NA18973.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA19002.hp1 NA19079.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0008 a0003c0004 others(1): Show a0001c0001 a0001c0008 a0003c0004 a0004c0010	a0001c0001t0001 a0001c0008t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0003c0004t0001 a0004c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0039 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0001g0207 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0008t0001g0243 a0003c0004t0001g0258 a0003c0004t0001g0260 a0004c0010t0001g0244	47	420	0.1119	555	c.831 others(572): Show c.831+1424_831+1425insCATGTCCTCTCCAGATTTCTTCTAAAAA TCTGAGCGCGCGCTGTTTCTCTCTCTTACGTCCTCTCCAGATTTCTTCTT CTAAAAATCTGAGCGCGCGCTGTTTCTCTCTCTCACGTCCTCTTCAGATT TCTTCTTCTAAAAATCTGAGTGCGCCCTGTTTCTCTCTCTCACATCCTCT CCAGATTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCACACATC CTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGTGCGCCGTTTCTCTCTC TCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCACGCTGTTTCTC TCTCACACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCGCGCT GTTTCTCTCTCTCACGTCCTCTCCAGACTTCTTCTTCTAAAAATCTGAGT GCGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTCTAAAAATCT GAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAA ATCTGAGTGCGCGCTGTTTCTCCCTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(548): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTGAG TGTGGGAGAGTGTGGGGTACGGGTGTGAGTGTGGGAGGGTGTGGGGTGGG GTGAGAGTGTGGGAGGGTGTGGGATGGGGGTGAGCATGAGTGTGGGAGGG TGTGCGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGACTGT GGGAGAGTGGGGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGG TGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGAGTGTGGA AGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGGT GAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAG GGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTGGGGTGGGGTGT GTGAATGTGTGGGGTGGATGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTG GTGTGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp1 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0104 a0001c0002t0103 a0001c0002t0104	a0001c0002t0103g0322 a0001c0002t0104g0319 a0001c0002t0103g0322 a0001c0002t0104g0319	2	330	0.0061	555	c.-10 others(572): Show c.-10-3787_-10-3786insCCACACCACACACCCACAAACCCACGCT CACACACACATCCACCCCACACATTCACACACCCCACCCCACACCCTCCC ACACTCACATTCACCCCCACCCCACACCCTCCCACACTCACATTCACCCC CACCCCACACCCTCCCACACTCACATTCACCCCACCCCACACTCTCCCAC AGTCACACTCACCCCCACCCCACACCCTTCCACACTCACACTCACCCCCA CCCCACACCCTCCCATGCTCTCACCCCACCCCACCCCACACCCTCCCACA CTCACACTCACCCCCACCCCACTCTCCCACAGTCACACCCCCACCCCACA CCCTCCCACACTCACACTCACCCGCACACCCTCCCACACTCATGCTCACC CCCATCCCACACCCTCCCACACTCTCACCCCACCCCACACCCTCCCACAC TCACACCCGTACCCCACACTCTCCCACACTCACACTCACCCCCACCCCAC ACCCTCCCACACTCACGCTCACCCCCTACCCCACACCCAGACACACACCC ACACACACCCATACTCTCACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(548): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTGTATATATATAAATATATATATTTATATATATAT ATTTTATACATATAAATATATATTATAAATATATATTTATACATATAAAT ATATATTATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATATATAAATATATATATTTA TATTTATTTATATATATATAAATATATATTTATATATAAATATATATATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATTTATATATAAATATATATATTTATATTTATTTCTATATATAAATATA TATATTTATATATATAAATATATATTTATATATATAAATATATATATTTA TATTTATAAATATATATATTTATATATATTTATATTTATATATATTTATA TATATT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0034 a0001c0003t0009g0034	1	208	0.0048	555	c.-97 others(572): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTGTATATATATAAATATATATATTTATATAT ATATATTTTATACATATAAATATATATTATAAATATATATTTATACATAT AAATATATATTATAAATATATATATTTATATTTATTTATATATATAAATA TATATATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATTTATTTATATATATATAAATATATATTTATATATAAATATATA TATTTATATATATAAATATATATATTTATATTTATTTATATATATATAAA TATATATTTATATATAAATATATATATTTATATTTATTTCTATATATAAA TATATATATTTATATATATAAATATATATTTATATATATAAATATATATA TTTATATTTATAAATATATATATTTATATATATTTATATTTATATATATT TATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(548): Show TCTACCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCAC CACCACCACCACCACCACCACTACCACCTCTACCACCTCTACCACCACGA CCACCACTACCACCTCTACCACCACCATCACCACCACCACCACCATCACC TCTACCACCACCATCACCACCACCACCACCATCACCACCATCATCACCAC CACCACTACCACCTCTACCACCACCATCACCACCACCACTATCACCACCT CTACTACCACCATCACCACCACCACCACCATCACCTCTACCACCACCATC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCTCTA CCACCACCATCACCACCACCACTATCACCACCTCTACCACCACCATCACC ACCACCACCACCACCTCTACCACCACCATCACCACCACCACCACCACCAC CTCTACCACCACCATCACTACTACCACCACCACCATCACCACCTCTACCA CCATCG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0132 a0002c0002t0033g0132	1	134	0.0075	555	c.520 others(576): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGT GATGGTGGTGGTGGTGGTGATGGTGGTAGTAGAGGTGGTGATAGTGGTGG TGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGG TAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925960	T T	TTGGATGG others(548): Show TTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0132 a0001c0001t0044g0132	1	376	0.0027	555	c.666 others(572): Show c.666-4840_666-4839insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925960	T T	TTGGATGG others(548): Show TTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	376	0.0027	555	c.666 others(572): Show c.666-4840_666-4839insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925960	T T	TTGGATGG others(548): Show TTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0133 a0001c0001t0017g0133	1	376	0.0027	555	c.666 others(572): Show c.666-4840_666-4839insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
INPP5A_chr10_132532787_132788480	132774881	A A	AGAGGGGC others(548): Show AGAGGGGCAGAGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGGC AGGGAGGAGGGACGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAG AGACAGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGA GGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAG GGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA TGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	204	0.0049	555	c.978 others(572): Show c.978-2789_978-2788insAGGGGCAGAGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAGAGAGGGGCAG GGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGG CAGGGAGAGAGGGGCAGGGAGGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGA CAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAG GGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGG GCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGAGAGGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(548): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCC CCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCG CCCCCCACAGCCGCCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCA GCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCC ACAGCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	312	0.0032	555	c.-41 others(570): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACA GCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCC GCCCCCCACAGCCGCCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGC AGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCC CACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(548): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCC GCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCA GCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCC ACAGCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	312	0.0032	555	c.-41 others(570): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACA GCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGC AGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCC CACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	903462	C C	CTGCACTG others(548): Show CTGCACTGCCCGTGGGGACGCCTGTCTCTGCTGTGTGGTGGTGACCTCTG CACTGCCTGTGGGGACGCCTGTCTCTGCTGTGTGGTGGTGACCTCTGCAC TGCCTGTGGGGACGCCCGTCTCTGCTGCGTGGTGGTGACCTCTGCATCGC CCACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCATCGCCCACA GGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGAC GCCTATCTCTGCTGTGTGGTGGTGACCTTTGCACTGCCCGTGGGGACGCC TGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGT CTCTGCTGTGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCT GCTGCGTGGGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGC GTGGTGGTGACCTCTGCACTGCCCACAGGACGCCTGTCTCTGCTGCGTGG TGGTGACCTCTGCACTGCCCACAGGACGCCTGTCTCTGCTGTGTGGTGGT GACCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01069.hp2 others(5): Show HG00099.hp2 HG00733.hp2 HG01069.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG02738.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0003c0032 a0001c0001 a0003c0009 a0003c0032	a0001c0001t0002 a0003c0009t0001 a0003c0032t0001 a0001c0001t0002 a0003c0009t0001 a0003c0032t0001	a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 others(5): Show a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0004 a0003c0009t0001g0005 a0003c0009t0001g0007 a0003c0032t0001g0006	8	294	0.0272	555	c.663 others(572): Show c.663+7468_663+7469insAAGGTCACCACCACACAGCAGAGACAGG CGTCCTGTGGGCAGTGCAGAGGTCACCACCACGCAGCAGAGACAGGCGTC CTGTGGGCAGTGCAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCTGT GGGCGATGCAGAGGTCACCCCACGCAGCAGAGACAGGCGTCCTGTGGGCG ATGCAGAGGTCACCACCACACAGCAGAGACGGGCGTCCCCACAGGCAGTG CAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCCCACGGGCAGTGCAA AGGTCACCACCACACAGCAGAGATAGGCGTCCTGTGGGCGATGCAGAGGT CACCACCACGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACC CCACGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCAC GCAGCAGAGACGGGCGTCCCCACAGGCAGTGCAGAGGTCACCACCACACA GCAGAGACAGGCGTCCCCACAGGCAGTGCAGAGGTCACCACCACACAGCA GAGACAGGCGTCCCCACGGGCAGTGCA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	904172	A A	AGGACGCC others(548): Show AGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCATCGCCCACAGGAC GCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCT GTCTCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTATCT CTGCTGTGTGGTGGTGACCTTTGCACTGCCCGTGGGGACGCCTGTCTCTG CTGCGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGCTG TGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTG GGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGT GACCTCTGCACTGCCCACAGGACGCCTGTCTCTGCTGTGTGGTGGTGACC TCTGCACTGCCCACAGGACGCCTGTCTCTGCTGTGTGGTGGTGACCTTTG CACTGCCCGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCAC TGCCTGTGGGGACGCCTGTCTCTGCTGTGTGGTGGTGACCTCTGCACTGC CTGTGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp2 HG03139.hp1 NA18906.hp2	a0001 a0018 a0001 a0018	a0001c0018 a0018c0058 a0001c0018 a0018c0058	a0001c0018t0001 a0018c0058t0001 a0001c0018t0001 a0018c0058t0001	a0001c0018t0001g0242 a0018c0058t0001g0236 a0001c0018t0001g0242 a0018c0058t0001g0236	2	294	0.0068	555	c.663 others(572): Show c.663+6758_663+6759insCCACAGGCAGTGCAGAGGTCACCACCAC ACAGCAGAGACAGGCGTCCCCACAGGCAGTGCAGAGGTCACCACCACGCA GCAGAGACAGGCGTCCCCACGGGCAGTGCAAAGGTCACCACCACACAGCA GAGACAGGCGTCCTGTGGGCAGTGCAGAGGTCACCACCACACAGCAGAGA CAGGCGTCCTGTGGGCAGTGCAGAGGTCACCACCACGCAGCAGAGACAGG CGTCCTGTGGGCGATGCAGAGGTCACCCCACGCAGCAGAGACAGGCGTCC TGTGGGCGATGCAGAGGTCACCACCACACAGCAGAGACGGGCGTCCCCAC AGGCAGTGCAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCCCACGGG CAGTGCAAAGGTCACCACCACACAGCAGAGATAGGCGTCCTGTGGGCGAT GCAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAG AGGTCACCACCACGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGT CACCCCACGCAGCAGAGACAGGCGTCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
MAN2B2_chr4_6570189_6628362	6579045	C C	CCACCATC others(548): Show CCACCATCACCACCACCATCACCATCACCATCACCACCATCACCACCATC ACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCACCAC CATCACCATCACCAGCACCACCACCACCATCACCATCACCACCACCACCC TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCCTCACCACCATCACCACCACCACCATCACCACCATCACCATCA CCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCATCACCACCACCATCACCATCACCACCACCACCACCATCACCAT CACCAGCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCACCCTCACCACCATCACCACCACCACCATCACCACCACCATCACC ATCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCAC CACCAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	362	0.0028	555	c.391 others(570): Show c.391+576_391+577insTCACCACCATCACCACCATCACCACCACCA TCACCATCACCATCACCACCACCACCACCATCACCACCACCATCACCATC ACCAGCACCACCACCACCATCACCATCACCACCACCACCCTCACCACCAT CACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCCTC ACCACCATCACCACCACCACCATCACCACCATCACCATCACCACCACCAT CACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCATCA CCACCACCATCACCATCACCACCACCACCACCATCACCATCACCAGCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCCT CACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCA CCATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ATCACCACCACCATCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579295	C C	CCACCACC others(548): Show CCACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCACC ACCATCACCACCATCACCACCATCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	362	0.0028	555	c.391 others(570): Show c.391+802_391+803insCCATCACCACCATCACCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCA CCATCACCACCACCACCATCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478069	G G	GGGGGGGG others(548): Show GGGGGGGGGGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGGGAGA GAGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGG GGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAG AGGGGGGAGGGAGGAGAGGGGGGAGGGGGGAGGGAGGAGAGGGGGGAGGG GGGAGGGAGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGAGGAGAGGGGG GAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGGGGGGGGAGGGGGGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAG GGGGGAGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG GAGGGGGGGGAGGGGGGAGGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGA GGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0158 a0002c0002t0006g0158	1	163	0.0061	555	c.525 others(572): Show c.525+8412_525+8413insTCCCCCTCTCCCCCCTCCCCCTCTCCCC CCTCCCCCCCTCCCCCCTCCCCCCCCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCC CCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCC CCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCC CCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTCCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCT CTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCCCCCCTCTCCTCCCTCC CCCCTCCCCCCTCTCCTCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCT CCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCT CTCTCCCCCCTCCCCCCTCTCTCCCCTCTCTCCCCCCTCCCCCCTCTCTC CCCCTCCCCCCTCTCTCCCCCCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(548): Show TATAATATATAATTATATTCTATATTATATAATTATAATATAATTATATA TAATATAATTATATTATATAATTATAATATAATTATATAATATAATTATA TTATATATAATTATATTAAATATATTATATAATATATAATTATAATTATA TATTATATAATATATAATTATATTATATATTATATAATATATAATTATAA TTATATATTATATAATATATAATTATATTATATATTATAATACATTTAAT ATAATTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATT ATAATATATAGTATATTATATATAATTATATTATAACATATTATATATAA TTATATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAA TATATAATTATATTCTATATATAATTATATATAATGTAATTATATTCTGT ATATAATTATATATAATATAATTATATTCTGTATATAATTATATATAATT ATATTCTATATATAATATAATTATATATAATTATATACAGAATATAATTA TATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	288	0.0035	555	c.-32 others(566): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATACAGAATATAATTACATTATATATAATT ATATATAGAATATAATTATATATTATAACATATTATATATAATTATATTA TAGATTATGATCTATAATATAATTATATATAATATGTTATAATATAATTA TATATAATATACTATATATTATAATACTATTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAAATGTATTATAATATATAATATAA TTATATATTATATAATATATAATTATAATTATATATTATATAATATATAA TATAATTATATATTATATAATATATAATTATAATTATATATTATATAATA TATTTAATATAATTATATATAATATAATTATATTATATAATTATATTATA ATTATATAATATAATTATATTATATATAATTATATTATAATTATATAATA TAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MPPED1_chr22_43407014_43512848	43500017	A A	AGGTGGTG others(548): Show AGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGAT GGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGG TGGTAGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTG GGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGAT GGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGT GGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGATGG GGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTG AGGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGGAGGTGATGGAGGT GGTGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0206 a0001c0007t0002g0206	1	250	0.0040	555	c.748 others(572): Show c.748+1683_748+1684insGTGATGGAGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGAGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGAT GGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTAATGGAGG TGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTG GTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGT GGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGG TGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGGT GATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGG TGGTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGGAGGTGATG GAGGTGGTGGTGGTGGTGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(548): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGT GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC ACGTCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	256	0.0039	555	c.241 others(574): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(548): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAAGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGT GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC ACGTCC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	256	0.0039	555	c.241 others(574): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACTTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(548): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGT GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC ACGTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0005 a0001c0010t0001g0005	1	256	0.0039	555	c.241 others(574): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CTGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(548): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGT GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC ACGTCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01081.hp1 others(57): Show HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01257.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02040.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18978.hp2 NA19003.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0018 a0001c0020 a0001c0022 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0018t0003 a0001c0020t0001 a0001c0022t0001 a0001c0023t0003	a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 others(57): Show a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0219 a0001c0001t0002g0238 a0001c0001t0003g0015 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0155 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0004g0163 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0014 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0194 a0001c0003t0001g0210 a0001c0003t0001g0212 a0001c0003t0003g0169 a0001c0003t0003g0180 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0006t0001g0244 a0001c0007t0001g0209 a0001c0007t0001g0222 a0001c0007t0001g0230 a0001c0007t0001g0246 a0001c0007t0001g0247 a0001c0009t0001g0085 a0001c0009t0001g0087 a0001c0009t0001g0137 a0001c0010t0001g0140 a0001c0010t0001g0141 a0001c0011t0001g0199 a0001c0012t0001g0002 a0001c0012t0001g0003 a0001c0013t0001g0164 a0001c0018t0003g0176 a0001c0020t0001g0253 a0001c0022t0001g0245 a0001c0023t0003g0203	60	256	0.2344	555	c.241 others(574): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(548): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGT GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC ACGTCC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0185 a0001c0025t0003g0185	1	256	0.0039	555	c.241 others(574): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537690	G G	GGCCAGCC others(548): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0115 a0001c0009t0001g0115	1	256	0.0039	555	c.241 others(574): Show c.241+14415_241+14416insGGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGG CCAGGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCC CCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGC others(548): Show AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTG GAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGT GGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGT GTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCG TGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGG GGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGGTGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGA GGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCG TGGAGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0035 a0005c0005t0001g0035	1	388	0.0026	555	c.159 others(572): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAG GGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGG CGCATGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCG CGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGGTG CGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCG TGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGG GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGG GGGGGCGTGGAGGGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195776280	C C	CCATACCT others(548): Show CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACAGTCATACCTTCCGCACCCATACCTTCCACAG TCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCACACCCGTACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0028 a0028	a0028c0137 a0028c0137	a0028c0137t0002 a0028c0137t0002	a0028c0137t0002g0024 a0028c0137t0002g0024	1	249	0.0040	555	c.129 others(576): Show c.12944-1976_12944-1975insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTACGGGTG TGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGGGTG CGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776999	T T	TCCATACC others(548): Show TCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACATCCATACCTTCCACATCCATACCTTCCACG GCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACATCCATACCTTCCACAGTCATACCTTCCACACCCATACCTT CCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACG GCCATGCCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTT CCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA GTCATACCTTCCACACCCATACCTTCCACAGTCTTACCTTCCACACCCAT ACCTTCCACGGCCATACCTTCCACAGTCATACCTTCCACGGCCATACCTT CCACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0050 a0050	a0050c0147 a0050c0147	a0050c0147t0004 a0050c0147t0004	a0050c0147t0004g0231 a0050c0147t0004g0231	1	249	0.0040	555	c.129 others(576): Show c.12943+1303_12943+1304insGTGTGGAAGGTATGGCCGTGGAAG GTATGACTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAG ACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGT GGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAG GGTGTGGAAGGTATGGGTGTGGAAGGCATGGCCGTGGAAGGTATGGGTGT GGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAG GTATGACTGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTATG GGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGATGT GGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATG GGTGTGGAAGGTATGGGTGTGGAAGGTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175670392	A A	ATTATATT others(548): Show ATTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATT TATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTA AATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATT TATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTA TATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAA TTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTA TATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATA TTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATT TAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATA TTAAATTTACATTAAATGTAAATTTAATATATTTATATTAAATTTACATT AAATGTAAATTTAATATATTTATATTAAATTTACATTAAATGTAAATTTA ATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0008 a0004c0002t0034 a0004c0002t0008 a0004c0002t0034	a0004c0002t0008g0006 a0004c0002t0034g0055 a0004c0002t0008g0006 a0004c0002t0034g0055	2	64	0.0313	555	c.189 others(576): Show c.1896+43020_1896+43021insTATTAAATGTAAATTTAATATATT TATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTA TATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAA TTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTA TATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATA TTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATT TAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATA TTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATT AAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTA ATATATTTATATTAAATTTACATTAAATGTAAATTTAATATATTTATATT AAATTTACATTAAATGTAAATTTAATATATTTATATTAAATTTACATTAA ATGTAAATTTAATATATTTATATTAAATTTA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158667406	T T	TCCCTTAC others(548): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTAC CCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCC CGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTC CGCCCG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	378	0.0027	555	c.148 others(574): Show c.1480-2657_1480-2656insCGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACC CAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(548): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0249 a0001c0003t0001g0249	1	324	0.0031	555	c.140 others(572): Show c.140+8190_140+8191insCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGCC CCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(548): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATAGTTTTAAA CTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAGTT TATATAGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTA AACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTAT ATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTA TATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATAT AGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTA TATAGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0190 a0002c0004t0001g0190	1	244	0.0041	555	c.342 others(574): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATA AACTATATAGTTTTAAACTATATAAACTAGTTTAAAACTATAAACTATAT AGTTTAAAACTATAAACTATATAGTTTAAAACTATATATAAACTATATAG TTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar

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Search Results (Total: 10000 hits)