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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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
GAS6_chr13_113815549_113869076	113824415	C C	CGCGCGGT others(983): Show CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTC TGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGG GAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGAGCACCCGCGGTCTGGGG TCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCA CCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGT CTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCG GGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGAGGTCTGG GGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAG CACGCGAGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTC TGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACC CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAG CTGTCGGGAGCACCTATGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCA GTCTGGGGTCTGAGCTGTCGGGAGCACGCGGGGTCTGGGGTCTGAGCTGT CGGGAGCACCTGCGGTCTGGGGTCTGAGCTGTCGGGAGCAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	143	0.0070	990	c.147 others(1007): Show c.1478-866_1478-865insATGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCCCGCGTGCTCCCGACAGC TCAGACCCCAGACTGCGCGTGCTCCCGACAGCTCAGACCCCAGACCATAG GTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAG ACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGC TCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCC CAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCC GACAGCTCAGACCCCAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGA CCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACA GCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGC GCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTC AGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGT GCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGAC CCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTC CCGACAGCTCAGACCCCAGACCGCGGGTGCTCCGACAGCTCAGACCCCAG ACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGAC AGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCG CGCGTGCTCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTC AGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGT GCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGAC CCCAGACCGCGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
KIAA0930_chr22_45187244_45245894	45228779	C C	CTACCACC others(983): Show CTACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACA CTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAG ATCCCTCTCCACCCCCCTACCACCACTCACCCGAAAGATCCCTCTCCACC CCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATC ACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGA AAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCA CCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCAC TCACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAA AGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTC TCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCC ACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCA AACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAG ATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTTCAC CCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCACCACT CACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAA GATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCC AACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCC GAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCT CCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0101 a0001c0001t0010g0101	1	398	0.0025	990	c.64+ others(1007): Show c.64+11860_64+11861insAGAGGGATCTTTCGGGTGAGTGTTTGGT GGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGA AGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCT CAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGG GTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGG GATCTTTCGGGTGAGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAG TGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGG GGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTT TCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAG TGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTG GTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGG TGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTG AGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGAT GGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTT TCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGT TTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTAGGGG GGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGA TCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGG TGAGTGGTGGTA	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(983): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGG TGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGG GATAGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGAGGGATAGATGGG TGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTG GGTGGGTGGGTGGAGGAATAGATGGGTGGTGGGTGGGTGGAGGGATAGAT GGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGG ATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGT GGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGTGGGTGGG TGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGG TGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGAGGAATAGATGGGTG GGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGAGGAATAGA TGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTG GAGGGATAGATGGGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGG TGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTG GGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGA TAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGTGGGTGGGTGGAGGG ATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGT GGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0047 a0047	a0047c0124 a0047c0124	a0047c0124t0001 a0047c0124t0001	a0047c0124t0001g0083 a0047c0124t0001g0083	1	186	0.0054	990	c.450 others(1007): Show c.450+1910_450+1911insCACCCATCTATCCCTCCACCCACCCATC CACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCA TCCACCCATCTATCCCTCCACCCACCCACCACCCATCTATTCCTCCACCC ACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCT CCACCCACCCACCCACCCATCTATCCCTCCACCCACCCACCCACCCATCT ATCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCAC CCATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCC ATCCACCCACCCATCTATTCCTCCACCCACCCACCCATCTATCCCTCCAC CCACCCATCCACCCACCCATCTATTCCTCCACCCACCCACCCATCTATCC CTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCTAT CCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCC ATCTATCCCTCCACCCACCCACCACCCATCTATTCCTCCACCCACCCACC CACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCA CCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACC CACCCATCCACCCATCTATCCCTCCACCCACCCACCACCCATCTATTCCT CCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCT ATCCCTCCACCCACCCATCTATCCCTCCACCCACCCATCTATCCCTCCAC CCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCC ACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCACCCACCTAT CCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCACCCATCT ATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(983): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACA TACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATA CCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18997.hp1 NA18946.hp1 NA18997.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0034 a0002c0003t0003 a0001c0004t0034 a0002c0003t0003	a0001c0004t0034g0017 a0002c0003t0003g0087 a0001c0004t0034g0017 a0002c0003t0003g0087	2	296	0.0068	990	c.368 others(1007): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGT AGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(983): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACA TACCCGGGCCACTTACTTACTACATACCCGGGCCGCTTACTTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG00741.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0001 a0002c0003t0003g0001	2	296	0.0068	990	c.368 others(1007): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAAGTAAGCGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGT AGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(983): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACA TACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0019 a0001c0004t0019g0019	1	296	0.0034	990	c.368 others(1007): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MCCC1_chr3_183010218_183104496	183018248	C C	CACTGGTC others(983): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGACCAAATGC ACTAGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT CGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTG GTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTAC AGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACA GCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTC AAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAG CCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCA AATCGGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGC CCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19000.hp1 NA18953.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0265 a0001c0001t0001g0269	2	344	0.0058	990	c.197 others(1007): Show c.1978-912_1978-911insACATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTG TAGGCCTCCGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGT AGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAG GCCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAG TGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT GCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGC CTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTG CATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCC TCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGC ATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCT CTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTGCA TTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTC TGATTTGACTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTACAT TTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCT GATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018248	C C	CACTGGTC others(983): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGACCAAATGC ACTAGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT CGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTG GTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACA GCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTC AAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAG CCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCA AATCGGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGC CCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(13): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG02717.hp2 HG02738.hp1 HG03669.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp1 NA18974.hp1 NA18993.hp1 NA19055.hp2 NA19065.hp2 NA19067.hp2 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 others(13): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274	16	344	0.0465	990	c.197 others(1007): Show c.1978-912_1978-911insACATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTG TAGGCCTCCGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGT AGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAG GCCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAG TGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT GCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGC CTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTG CATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCC TCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGC ATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCT CTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTGCA TTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTC TGATTTGACTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTACAT TTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCT GATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018248	C C	CACTGGTC others(983): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGACCAAATGC ACTAGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT GGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTG GTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACA GCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTC AAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAG CCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCA AATCGGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGC CCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01169.hp1 others(4): Show HG00735.hp1 HG01167.hp2 HG01169.hp1 HG02055.hp1 HG02257.hp1 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(4): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203	7	344	0.0204	990	c.197 others(1007): Show c.1978-912_1978-911insACATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTG TAGGCCTCCGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGT AGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAG GCCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAG TGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT GCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGC CTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTG CATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCC TCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGC ATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCT CTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTGCA TTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTC TGATTTGACTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTACAT TTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCT GATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018314	T T	TACTGGTC others(983): Show TACTGGTCAAATCAGAGGCCTACAGACCAAATGCACTAGTCAAATCAGAG GCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGC ACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGGTCAAATCAGAGG CCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGCA CTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCC TACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACT GGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCT ACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTG GTCAAATCAGAGGCCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTA CAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGG TCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACA GGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTC AAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAG GTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCA AATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGG TCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp2 NA19043.hp1 HG01255.hp2 HG02559.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0227 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0227	3	344	0.0087	990	c.197 others(1007): Show c.1978-978_1978-977insGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGTA GGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAG GCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTGATTTGACCAG TACATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGACCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT GCATTTGACCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGC CTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTG CATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCC TCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGC ATTTGACCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCT CTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACA TTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTC TGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCAT TTGACCTGTAGGCCTCTGATTTGACTAGTGCATTTGGTCTGTAGGCCTCT GATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(983): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGA CAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0030 a0030	a0030c0043 a0030c0043	a0030c0043t0003 a0030c0043t0003	a0030c0043t0003g0069 a0030c0043t0003g0069	1	292	0.0034	990	c.377 others(1007): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583558	G G	GCAGCCAC others(983): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	292	0.0034	990	c.377 others(1007): Show c.377-3630_377-3629insTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MICAL3_chr22_17782649_18029561	17877063	T T	TGGAGGTT others(983): Show TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGG GAAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGG AGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTA GGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	274	0.0037	990	c.224 others(1009): Show c.2242-5041_2242-5040insCTAACCTCCATAACTTCCCTAACCTC CATAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT AACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTA ACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCCTAA CCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCC CTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT CACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877493	T T	TAGGGAGG others(983): Show TAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGG AGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAG GTGAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGG AGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTT ATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTA GGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGG GAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0127 a0002c0010t0001g0127	1	274	0.0037	990	c.224 others(1009): Show c.2242-5471_2242-5470insCACCTCCCTAACCTCCATAACCTCCC TCACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTCACCTCCATAACC TCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTA ACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTC CCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAA CCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTCACCTCC CTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCA TAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTCACC TCCCTAACCTCCATAACCTCCCTCACCTCCCTCACCTCCCTAACCTCCAT AACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCT CCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATA ACCTCCCTCACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTCACCTC CCTAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTCACCTCC ATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCC TCACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACC TCCCTCACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(983): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGG GGGGTCAGCCCCCCCGCCCAGACAGCCGCCCCATCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	256	0.0039	990	c.241 others(1009): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCTGGGC GGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCA CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(983): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCC TCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTG GGTCCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTAC CTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACAACTGGGTCCCTTCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACAACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGTCCCTC CGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACAACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACAACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGTCCCTC CGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTTCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0186 a0001c0004t0002g0186	1	378	0.0027	990	c.148 others(1009): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGAAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAG GGACCCAGTTGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGAAGGGACCCAG TTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCT AGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAAGG GGGGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAGTAGT GGGTAAGAGGGTGGAGGGCCAGAGGGTAGGTAAGGAGGGCGGAGGGACCC AGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NKX1-1_chr4_1397932_1411442	1397942	C C	CGGGTGTT others(983): Show CGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGT GCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GAGTAGATCAGGTTGGATACAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC CGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCA GGTTGGATGCCGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0010 a0001c0001t0000g0010	1	382	0.0026	990	c.49 others(1001): Show c.4989_*4990insTGCATCCAACCTGATCTACTCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCGGCA TCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCGGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGTATCCAACCTGA TCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC TCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC TGAAAGCACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAA ACACCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4989		chr4	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(983): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0008 a0008	a0008c0141 a0008c0141	a0008c0141t0001 a0008c0141t0001	a0008c0141t0001g0258 a0008c0141t0001g0258	1	268	0.0037	990	c.292 others(1005): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTG TCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PCBP3_chr21_45638725_45947450	45924292	C C	CGAACACC others(983): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTG TGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTTGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CGCGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0266 a0001c0001t0018g0266	1	292	0.0034	990	c.718 others(1007): Show c.718-5607_718-5606insAGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACA GTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGG GTGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACA GCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGT TGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCGCGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924377	A A	AGTGGGTA others(983): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGG AACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	292	0.0034	990	c.718 others(1007): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGA ACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924490	C C	CGAACACT others(983): Show CGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAACAGTC GCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAACAGTCGC ATGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAA CACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	292	0.0034	990	c.718 others(1007): Show c.718-5421_718-5420insTGGGAACAGTCGCATGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAAC ACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGC ATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924707	A A	AGTGGGTA others(983): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGGTCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCAAACACTGGGAACAGTCGAGTG GATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGG TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGTGTAGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATA GAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCGAACACCGGG AACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGG TCGGGTGTGCACGAGGAGATGCAAACACTGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0097 a0001c0001t0017g0097	1	292	0.0034	990	c.718 others(1007): Show c.718-5206_718-5205insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCAAACA CTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCG TGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGTGTAGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCAAACACTGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCAAACACTGGGA ACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(983): Show ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAA CACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	292	0.0034	990	c.718 others(1007): Show c.718-4779_718-4778insACGAGGAGATGCGAACACCGGGAACAGT CGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT GAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGCGAACACCGGGAACAGTCGCATGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAA GGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(983): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT ATTCTGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATGGATCTATTCGGATCT ATTCAGAATGGATCTATTCAGAATGGATCTATTCGGATCTATTCAGAATG GATCTATTCGGATCTATTCAGAATGGATCTATTCGGATCTATTCAGAATG GATCTATTCGGATCTATTCAGAATGGATCTATTCGGATCTATTCAGAATG GATCTATTCGGATCTATTCAGAATGGATCTATTCGGATCTATTCAGAATG GATCTATTCGGATCTATTCAGAATGGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	262	0.0038	990	c.129 others(1007): Show c.129-5992_129-5991insTAGATCCGAATAGATCCATTCTGAATAG ATCCGAATAGATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAG ATCCGAATAGATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAG ATCCGAATAGATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAG ATCCGAATAGATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAG ATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTGAATAG ATCTATTCAGAATAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(983): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGG AGAGGGGGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAAGGAGAGGG GGAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGG AGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGG AGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGGAGG GGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGG GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAG AGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGA GAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTG AGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTG AGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGG CGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGG CGAGAGAGAGGGCGGGTGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGG CGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCG GGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAG AGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19087.hp1 NA19070.hp1 NA19087.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0156 a0010c0011t0001g0250 a0010c0011t0001g0156 a0010c0011t0001g0250	2	308	0.0065	990	c.371 others(1007): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCA CCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCC TCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTC TCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTC TCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCT CCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCC CCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PPP2R3B_chrX_328933_391907	365437	A A	AGAGGCTG others(983): Show AGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGTTGCAGT GAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC TGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGT ACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGA GGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGC GACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTG GTGGCGCATGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT CGCTTCAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTG CACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAAC GATTAACCAGGTGTGGTGGCGCATGCCTGTACTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGTTGCAGTGAGCT GAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCT CAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTACTCC CAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGG AGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAG AGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGC GCATGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTT CAACACAGGAGGCGGAGGTTGCGGTGAGCTGAGATCGCACCACTGCACTC CAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTA ACCAGGTGTGGTGGCGCATGCCTGTACTCCCAGCTACTCGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	25	0.0400	990	c.325 others(1007): Show c.325-3848_325-3847insCCGAGTAGCTGGGAGTACAGGCATGCGC CACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGCAACCTCC GCCTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG AGTACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAG ACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAG CTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCC TCTCGAGTAGCTGGGAGTACAGGCATGCGCCACCACACCTGGTTAATCGT TTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA GTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGTGTTGAAGCGAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCATGCGCCACCA CACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCGC CCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTC CTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTAC AGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGA GTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCAC TGCAACCTCCGCCTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCTCG AGTAGCTGGGAGTACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTT TTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGT GCGATCTCAGCTCACTGCAACCTCCGCCTCCTGTGTTGAAGCGATTCTCC TGCCTCAGCCTC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	366639	A A	AGTGAGCT others(983): Show AGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGA CTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCC TGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCG GGAGGCGGAGGGTGCGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTG GGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGT GTGGTGGCGCATGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAG AATCGCTTAAACCCGGGAGGCGGAGGGTGCGGTGAGCTGAGATCGCACCA CTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACA AACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGAG AGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGTGA GCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTG TCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAA TCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGG CGGAGGGTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGA CAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGT GGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCG CTTAAACCCGGGAGGCGGAGGGTGCGGTGAGCTGAGGTCGCACTACTGCA CTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGA TTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCT GAGGCAGGAGAATCGCTTAAACCCGGGAGGCGGAGGGTGCG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0009 a0005c0009t0009	a0005c0009t0009g0012 a0005c0009t0009g0012	1	25	0.0400	990	c.325 others(1007): Show c.325-5050_325-5049insCGCACCCTCCGCCTCCCGGGTTTAAGCG ATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCATGCGCCAC CACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTC GCCCAGGCTGGAGTGCAGTAGTGCGACCTCAGCTCACCGCACCCTCCGCC TCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATT ACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACA GAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTC ACTGCACCCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCT CAAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGTTAATCGTTTG TTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTA GTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGTGTTGAAGCGATTCT CCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCATGCGCCACCACAC CTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCA GGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGCACCCTCCGCCTCCCG GGTTTAAGCGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGG CATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTC TCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGC ACCCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCTCGAGT AGCTGGGATTACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTG TTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCG ATCTCAGCTCAC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
RAB11FIP3_chr16_420649_528011	467520	G G	GGGGGCGT others(983): Show GGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTG GGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCGGGG GCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	295	0.0034	990	c.809 others(1007): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTG GGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCGGGG GCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(983): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	295	0.0034	990	c.126 others(1009): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RPH3AL_chr17_207389_357807	221666	T T	TGCATCAG others(983): Show TGCATCAGCTCTGAAGGCTCCAGTCACTGAGACAATAGACCCAAGAACAA CAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACAACATCT CTGAGGCCTCCACTCACTGGGACAACAGACCCAAGCGCATCAGCTCTGAG GCCTCCACTCACTGAGACAATAGACCCAAGAACAACAGCTCTGAGGCCTC CACTCGGTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCGCCACTC ACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCTCCACTCACTGA GACAACAGACCCAAGCGCATCAGCTCTGAGGCCTCCACTCACTGAGACAA TAGACCCAAGAACAACAGCTCTGAGACCTCCACTCACTGAGACAATAGAC CCAAGCACAACAGCTCTGAGGCCTCCACTCACTGAGACAACAGACCCAAG CGCATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGAACAA CAGCTCTGAGACCTCCACTCACTGAGACAATAGACCCAAGCACAACAGCT CTGAGGCCGCCACTCACTGAGACAATAGACCCAAGCACATCAGCTCTGAG TCCTCCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCGC CACTCACTGAGACAATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTC GGTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCTCCACTCACTGA GACAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCACTCACTGAGACAA TAGACCCAAGCACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGAC CCAAGAACATCAGCTCTGAGTCCTCCACTCACTGAGAGAATAGACCCAAG CACATCAGCTCTCAGGCCTCCACTCGGTGAGACAATAGGCCCAAGCACAA CAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18940.hp1 HG00544.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0049 a0001c0004t0001g0048 a0001c0001t0002g0049 a0001c0004t0001g0048	2	133	0.0150	990	c.614 others(1007): Show c.614-1931_614-1930insGCTTGGGTCTATTGTCTCAGTGAGTGGA GGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCACCGAGTGGAGGCCT GAGAGCTGATGTGCTTGGGTCTATTCTCTCAGTGAGTGGAGGACTCAGAG CTGATGTTCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTT GTGCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTGCT TGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTGCTTGGGT CTATTGTCTCACCGAGTGGAGGCCTCAGAGCTGATGTGCTTGGGTCTATT GTCTCAGTGAGTGGCGGCCTCAGAGCTGTTGTGCTTGGGTCTATTGTCTC AGTGAGTGGAGGACTCAGAGCTGATGTGCTTGGGTCTATTGTCTCAGTGA GTGGCGGCCTCAGAGCTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGA GGTCTCAGAGCTGTTGTTCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCT CAGAGCTGATGCGCTTGGGTCTGTTGTCTCAGTGAGTGGAGGCCTCAGAG CTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGAGGTCTCAGAGCTGTT GTTCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGATGCGCT TGGGTCTGTTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTGCTTGGGT CTATTGTCTCAGTGAGTGGCGGCCTCAGAGCTGTTGTGCTTGGGTCTATT GTCTCACCGAGTGGAGGCCTCAGAGCTGTTGTTCTTGGGTCTATTGTCTC AGTGAGTGGAGGCCTCAGAGCTGATGCGCTTGGGTCTGTTGTCCCAGTGA GTGGAGGCCTCAGAGATGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGA GGCCTCAGAGCTGTTGTTCTTGGGTCTATTGTCTCAGTGACTGGAGCCTT CAGAGCTGATGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743926	G G	GAGCCCTG others(983): Show GAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACT AGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT TACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCC TGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACT GTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAG CACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTA CTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTG GTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGC CCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCA CAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACT AGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGC TACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCC TGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACT GTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAG CACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTA CTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTG GTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGC CCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCA CAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACT AGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0065 a0001c0013t0013g0065	1	196	0.0051	990	c.655 others(1009): Show c.655-10076_655-10075insCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743929	C C	CCCTGGCT others(983): Show CCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTC CTGGTTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	196	0.0051	990	c.655 others(1009): Show c.655-10076_655-10075insCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744469	C C	CCCTGGCT others(983): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	196	0.0051	990	c.655 others(1007): Show c.655-9536_655-9535insCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTA GCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744541	C C	CCCTGGTT others(983): Show CCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0006 a0001c0072t0006	a0001c0072t0006g0108 a0001c0072t0006g0108	1	196	0.0051	990	c.655 others(1007): Show c.655-9464_655-9463insTTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31432012	T T	TAGGGTGG others(983): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GTTAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp2 NA19076.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0022 a0001c0001t0001 a0001c0003t0022	a0001c0001t0001g0308 a0001c0003t0022g0260 a0001c0001t0001g0308 a0001c0003t0022g0260	2	376	0.0053	990	c.101 others(1007): Show c.1014-947_1014-946insTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGACAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGT GGACAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(983): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCG GGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG CGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCAC TGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGC CTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAG GGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGC ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAG GCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGG GGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGG AAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGT GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGG GTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	373	0.0027	990	c.115 others(1007): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGC CCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG TGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCC GGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCC AGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC GCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTC CCGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(983): Show ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATAAATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATAAATATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAC ATATATATAAATATATATAAATATATATACATATATAAATATATAAAAAA TATATAAATATATAAAAAATATATAAATATATAAAAATATATATAAATAT ATATAAATATATATACATATATATACATATATATAAATATATAAAAATAT ATAAATATATATAAATATAAATATATACAAATATATATATAAATATGTAT AAATATATAAAAATATATATATAAATATATAAAAATATATATATTAATAT ATAAAAATATATATATTAATATATAAAAATATATATAAATATATATATAA ATATATATATATAAATATATATAAAAATATATATAAAAATATATATAAAT ATATATATAAATATATATAAATATATATAAATATATATAAATATATATAA ATATATATAAATATATATAAATATATATATAAATATATATAAATATATAT ATAAATATATATAAACATATATAAATATATATAAAAATATATATAAATAT ATATAAATATATATAAATATATATAAAAATATATATAAATATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAA AAAATATATATAAATATATAAATATATATATATAAATATATATAAATATA TAAAAAAAATATATATAAATATATATAAATATATTTATATATATAAATAT ATTTATATATAAATATAAATATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	186	0.0054	990	c.-50 others(1001): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATACATATATATAAATATATATAAATATATATACATATA TAAATATATAAAAAATATATAAATATATAAAAAATATATAAATATATAAA AATATATATAAATATATATAAATATATATACATATATATACATATATATA AATATATAAAAATATATAAATATATATAAATATAAATATATACAAATATA TATATAAATATGTATAAATATATAAAAATATATATATAAATATATAAAAA TATATATATTAATATATAAAAATATATATATTAATATATAAAAATATATA TAAATATATATATAAATATATATATATAAATATATATAAAAATATATATA AAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAACATATATAAATATATATAAA AATATATATAAATATATATAAATATATATAAATATATATAAAAATATATA TAAATATATATATAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATAAAAAATATATATAAATATATAAATATATATATATAA ATATATATAAATATATAAAAAAAATATATATAAATATATATAAATATATT TATATATATAAATATATTTATATATAAATATAAATATATATAAATATATA TATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SPAAR_chr9_35904490_35916686	35913964	T T	TAGTGTGT others(983): Show TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0003 a0001c0001t0015g0003	1	420	0.0024	990	c.32 others(1001): Show c.3273_*3274insAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTT TGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTG TTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGT GTAGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2279		chr9	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACACAT others(983): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACAACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACT GCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCAC AGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACACATC AGACCCCACGACTGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCA CACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	392	0.0026	990	c.228 others(1009): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTG GTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGT GGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCACCC others(983): Show CCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCC TCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGC CTCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0328 a0002c0002t0001g0328	1	370	0.0027	990	c.-10 others(1001): Show c.-1039_-1038insCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGTACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GTACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTG GGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAG GGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAGG CACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTG GGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747727	C C	CGGGAGGC others(983): Show CGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCGGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0100 a0001c0001t0072g0100	1	314	0.0032	990	c.189 others(1005): Show c.189-592_189-591insACTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCGGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747853	G G	GCACTGGG others(983): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0068 a0002c0002t0068	a0002c0002t0068g0231 a0002c0002t0068g0231	1	314	0.0032	990	c.189 others(1005): Show c.189-472_189-471insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGAT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(983): Show TCACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTACC ACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCACCAC CACCACTAGCACAACCACAACACTACCACATCACCACCACCACTACCACT ACTACCATCACCATCACCACCACCATCACCACCACCACAATACTACCACA TCACCACCACCACCATCATCATCACCACCACTACCACCACCACTACCACC ACCACCACCATCACTACTACCATCACCACCACCACCACCATCACCACCAC CACGACCACCACAACACTACCACATCACCACCACCACCATCACCACTGCC ACCACCACTACCACCACCACCACTACCACCATCGCCACCATCACCACCAC ATCACCACCACCACCACCACTACTACCACCACCACCACCATCACCACTAC TACCATCACCACTACCACCACCACCACCATCACCACCACCATCACCACCA CCACTACCACTACCACCATCACAATCACCACCACCATCACCACCACCACT ACCACCACCACCACTACCACCATCGCCACCATCACCACCACATCACCACC ACCACCACACTACCACCACCACCACCATCACCACTACTACCATCACCACT ACTACCACCACCACCATCACAATCACCACTATCACCATCATCACCATCAC TACCACCACCACCATCACCATCATCGCCACCACCACCAACACTACTGCCA CCACCACTATTACCATCACCACCACTACTACCACCACCACTACCATAACC ACCATCATCACCATCACCATCATTACTGCTATTATGACCACCATCACTAC CACCATTATCACCACCACCACTAAACTACCACCACTACCTCACTGCCATC ATCACCATCACCATTACTAACATCACCATTACTAACATCACCATTATAAT ACTACCACCATCACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	360	0.0056	990	c.24 others(1001): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGCGATGATGGTGATGGTGGT GGTGGTAGTGATGGTGATGATGGTGATAGTGGTGATTGTGATGGTGGTGG TGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTG TGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGG TGGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTAGTG GTAGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGT GATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGGTGGTGG TGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGTGGTAG TGGTGGTGGCAGTGGTGATGGTGGTGGTGGTGATGTGGTAGTGTTGTGGT GGTCGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGATGG TGGTGGTGGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATGATGGTGGTG GTGGTGATGTGGTAGTATTGTGGTGGTGGTGATGGTGGTGGTGATGGTGA TGGTAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCT AGTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGA TGGTGGTGGTAATTATGATGGTGGTAGTGGTAGTGGTGGTGGTGGTGATG ATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
VCX2_chrX_8164944_8176267	8169562	T T	TCCTCCCT others(983): Show TCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCCTCACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCCTCCCCTCACACCACCTCTTCCTCCCTC CCTCCCTCCCCTCACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCC CTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCTCCCCTCACACCACCTCTTCCTC CCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTT CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0011 a0005c0006t0002g0011	1	115	0.0087	990	c.46 others(999): Show c.469_*470insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		381		chrX	TogoVar
ZDHHC20_chr13_21367571_21464303	21377227	C C	CGATCTGA others(983): Show CGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGA CTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCC GACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGAC CTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACCC CTAGTGCCTGTGATCTGACTGCCCGACGTGACCTCCACCCCTAGTGCCTG TGATCTGACTGCCCGACATGACCTCCACCCCTAGTGCCTGTGATCTGACT CTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGA CGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCT CCACCCCTAGTGCCTGTGATCTGACTGCCCGACGTGACCTCCACCCCTAG TGCCTGTGATCTGACTGCCCGACATGACCTCCACCCCTAGTGCCTGTGAT CTGACTCTGCCCTGCGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCT GCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTGCCCGACATG ACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCAC CCCTAGTGCCTGTGATCTGACTCTGCCCGACATGACCTCCACCCCTAGTG CCTGCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGAT CTGAGTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGAGTGCCC GACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTGCCCGACATGACCT CCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCACCCCT AGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTG TGATCTGACTGCCCGACGTGACCTCCACCCCTAGTGCCTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01071.hp2 others(2): Show HG00738.hp1 HG01070.hp2 HG01071.hp2 HG02602.hp1 HG02738.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0001c0001t0020 a0003c0006t0003 a0001c0001t0003 a0001c0001t0020 a0003c0006t0003	a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0019 others(2): Show a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0020g0013 a0003c0006t0003g0006	5	302	0.0166	990	c.41 others(1005): Show c.41-573_*41-572insACAGGCACTAGGGGTGGAGGTCACGTCGGG CAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGA TCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGC ACTAGGGGTGGAGGTCATGTCGGGCAGTCAGATCACAGGCACTAGGGGTG GAGGTCACGTCGGGCACTCAGATCGCAGGCACTAGGGGTGGAGGTCACGT CGGGCACTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGT CAGATCGCAGGCACTAGGGGTGGAGGTCATGTCGGGCAGAGTCAGATCAC AGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTA GGGGTGGAGGTCATGTCGGGCAGTCAGATCACAGGCACTAGGGGTGGAGG TCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGCAG GGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCATGTCGGGCAGTCA GATCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGTCAGATCACAGGC ACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCACTAGGGG TGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTC ACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCATGTCGGG CAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGTCAGATC ACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCAC TAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTG GAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCAC GTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCA GAGTCAGATC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ZDHHC20_chr13_21367571_21464303	21377227	C C	CGATCTGA others(983): Show CGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGA CTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCC GACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGAC CTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACCC CTAGTGCCTGTGATCTGACTGCCCGACGTGACCTCCACCCCTAGTGCCTG TGATCTGACTGCCCGACATGACCTCCACCCCTAGTGCCTGTGATCTGACT CTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGA CGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCT CCACCCCTAGTGCCTGTGATCTGACTGCCCGACGTGACCTCCACCCCTAG TGCCTGTGATCTGACTGCCCGACATGACCTCCACCCCTAGTGCCTGTGAT CTGACTCTGCCCTGCGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCT GCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTGCCCGACATG ACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCAC CCCTAGTGCCTGTGATCTGACTCTGCCCGACATGACCTCCACCCCTAGTG CCTGCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGAT CTGAGTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGAGTGCCC GACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTGCCCGACATGACCT CCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCACCCCT AGTGCCTGTGATCTGACTCTGCCCGACGTGACTTCCACCCCTAGTGCCTG TGATCTGACTGCCCGACGTGACCTCCACCCCTAGTGCCTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	302	0.0033	990	c.41 others(1005): Show c.41-573_*41-572insACAGGCACTAGGGGTGGAGGTCACGTCGGG CAGTCAGATCACAGGCACTAGGGGTGGAAGTCACGTCGGGCAGAGTCAGA TCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGC ACTAGGGGTGGAGGTCATGTCGGGCAGTCAGATCACAGGCACTAGGGGTG GAGGTCACGTCGGGCACTCAGATCGCAGGCACTAGGGGTGGAGGTCACGT CGGGCACTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGT CAGATCGCAGGCACTAGGGGTGGAGGTCATGTCGGGCAGAGTCAGATCAC AGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTA GGGGTGGAGGTCATGTCGGGCAGTCAGATCACAGGCACTAGGGGTGGAGG TCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGCAG GGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCATGTCGGGCAGTCA GATCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGTCAGATCACAGGC ACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCACTAGGGG TGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTC ACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCATGTCGGG CAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGTCAGATC ACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCAC TAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTG GAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCAC GTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCA GAGTCAGATC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(984): Show ACACCCACACACCCATACACACCCACATCCCCTGACACCCACACACCCAC ACACCCATACACACACACACCAGACCCCCACACCCCCACACCCATTCACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACACACCCACACCCACCACACACCCCCACCACACCCA CATACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTA ATACACACACACCCCCACACCCTCCCACCCCCCCACACCCCCACCACACA CCAATACACACCCACACACCCCCTCACACACACACCCACACACCCATACA CACACCCACCACACACCCATACATACACACCCCCACACCCCCTCACACCC TTCCCCCACTCACCCATACACAACCCCCCACCACACCCCCACACCCATAC ACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACA CCCTCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCA TACACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTC ACACACCCTCCCCCCTCACCCATACACAACCCCCACCACACCCCCACACC CATACACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCC TCACACACCCTCCCCCCACACACCCATACACACACCCCCACACCCCCACC ACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACC TATCCCCACCACACACCCATACACACACACCCACACACACACCACACCCA TACACACACATACCCCCACACCCCCACACACACCCTCCCTCACACACACC CCCACCACACACCCATACACACCCCAACCCCCCCCACACACC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0102 a0002c0005t0001g0102	1	248	0.0040	991	c.387 others(1010): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGGTTGGGGTGTGT ATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTG GGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGG GTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGT GTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTG GGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTG AGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTG GGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGG GTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTG TGGTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGGTTGTGTA TGGGTGAGTGGGGGAAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGG GTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTG TGTGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGT GGGGGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTG GGGGTGTGGGTGTATGTGGGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTG TGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGG GGGTGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTG TGGGTGGGTGGGTGTGTGTGAATGGGTGTGGGGGTGTGGGGGTCTGGTGT GTGTGTGTATGGGTGTGTGGGTGTGTGGGTGTCAGGGGATGTGGGTGTGT ATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ALDH7A1_chr5_126536841_126600219	126584671	A A	AAAAAAAA others(984): Show AAAAAAAAAAAAGGTTGGCAGGAAAAATCTCTAAGGAGGTAATATTGAAG CTGAAACCTGAAGAATGGGAAAAGTAAGCCATAGGAATATTCTTCCCAGG GATAAGGAAAAAACATATAAGAGGGATCCATGGAAAATAAAAGGGGCTGA CTGGGAAGACCAGTATGTCTAAAGCTAGAAGCTTGTAAGGTGTTGGAATC TTACTCCAGGTGCAATGTGAAGTCTTGAATGTCTTTTAAGGTGCAGAATA AGAGGATTTGCTTTATCTTTTAATATCGCTATGTGATAGGTAGAGGATAC ATTGAAGGGGAAAAGAGTAGAAGCAGGGAGATCAATTAAGAATGTATTAT AGGCCAGGCGCAGTGGTACATGCCTGTAATCCCAGGACTTCGGGAGGCCG AGGTGGGTGGATCACCTGAGGTCAGCAGATCAAGACCAGCCTGGCCAACA CGGGGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTTGTG GTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTAAGGCAGGAGAATCAC TGGAACCCGGGAGGCGGAGGTTGCAGTGAAACGAGATCATGCCACTGCAC TCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAGATTATAGTGACTTAGTCTTAAGATTGCAGTGGTGGCCGGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCA CAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCT CTACTAAAAATACAAAAAATTAGCAGGGCGTGGTGGCAGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGTGAATGGCGTGAACCCGGGAGGT GGAGTTTGCAATAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCATC AGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01496.hp2 others(4): Show HG01069.hp2 HG01106.hp1 HG01496.hp2 HG02683.hp1 HG03041.hp2 HG03669.hp2 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0002c0002t0004	a0001c0001t0001g0372 a0001c0001t0002g0369 a0001c0001t0004g0373 others(4): Show a0001c0001t0001g0372 a0001c0001t0002g0369 a0001c0001t0004g0373 a0001c0001t0005g0370 a0001c0001t0006g0371 a0001c0001t0013g0285 a0002c0002t0004g0374	7	380	0.0184	991	c.313 others(1006): Show c.313-660_313-659insCTTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTCTGATGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTT ATTGCAAACTCCACCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCTGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACCACTGCAATCTTAAGACTAAGTC ACTATAATCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGCATGATCTCGTTTCACTGCAACCTCCGCC TCCCGGGTTCCAGTGATTCTCCTGCCTTAGCCTCTCAAGTAGCTGGGATT ACAGGTGCCCACCACAACGTCCTGCTAATTTTTGTATTTTTAGTAGAGAC GAGGTTTCCCCGTGTTGGCCAGGCTGGTCTTGATCTGCTGACCTCAGGTG ATCCACCCACCTCGGCCTCCCGAAGTCCTGGGATTACAGGCATGTACCAC TGCGCCTGGCCTATAATACATTCTTAATTGATCTCCCTGCTTCTACTCTT TTCCCCTTCAATGTATCCTCTACCTATCACATAGCGATATTAAAAGATAA AGCAAATCCTCTTATTCTGCACCTTAAAAGACATTCAAGACTTCACATTG CACCTGGAGTAAGATTCCAACACCTTACAAGCTTCTAGCTTTAGACATAC TGGTCTTCCCAGTCAGCCCCTTTTATTTTCCATGGATCCCTCTTATATGT TTTTTCCTTATCCCTGGGAAGAATATTCCTATGGCTTACTTTTCCCATTC TTCAGGTTTCAGCTTCAATATTACCTCCTTAGAGATTTTTCCTGCCAACC TTTTTTTTTTT	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	3/17			chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126584671	A A	AAAAAAAA others(984): Show AAAAAAAAAAAAGGTTGGCAGGAAAAATCTCTAAGGAGGTAATATTGAAG CTGAAACCTGAAGAATGGGAAAAGTAAGCCATAGGAATATTCTTCCCAGG GATAAGGAAAAAACATATAAGAGGGATCCATGGAAAATAAAAGGGGCTGA CTGGGAAGACCAGTATGTCTAAAGCTAGAAGCTTGTAAGGTGTTGGAATC TTACTCCAGGTGCAATGTGAAGTCTTGAATGTCTTTTAAGGTGCAGAATA AGAGGATTTGCTTTATCTTTTAATATCGCTATGTGATAGGTAGAGGATAC ATTGAAGGGGAAAAGAGTAGAAGCAGGGAGATCAATTAAGAATGTATTAT AGGCCAGGCGCAGTGGTACATGCCTGTAATCCCAGGACTTCGGGAGGCCG AGGTGGGTGGATCACCTGAGGTCAGCAGATCAAGACCAGCCTGGCCAACA CGGGGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTTGTG GTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTAAGGCAGGAGAATCAC TGGAACCCGGGAGGCGGAGGTTGCAGTGAAACGAGATCATGCCACTGCAC TCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAGATTATAGTGACTTAGTCTTAAGATTGCAGTGGTGGCCGGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCAGGGCGTGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGT GGAGTTTGCAATAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCATC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	380	0.0026	991	c.313 others(1006): Show c.313-660_313-659insCTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGATGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTT ATTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCTGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACCACTGCAATCTTAAGACTAAGTC ACTATAATCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGCATGATCTCGTTTCACTGCAACCTCCGCC TCCCGGGTTCCAGTGATTCTCCTGCCTTAGCCTCTCAAGTAGCTGGGATT ACAGGTGCCCACCACAACGTCCTGCTAATTTTTGTATTTTTAGTAGAGAC GAGGTTTCCCCGTGTTGGCCAGGCTGGTCTTGATCTGCTGACCTCAGGTG ATCCACCCACCTCGGCCTCCCGAAGTCCTGGGATTACAGGCATGTACCAC TGCGCCTGGCCTATAATACATTCTTAATTGATCTCCCTGCTTCTACTCTT TTCCCCTTCAATGTATCCTCTACCTATCACATAGCGATATTAAAAGATAA AGCAAATCCTCTTATTCTGCACCTTAAAAGACATTCAAGACTTCACATTG CACCTGGAGTAAGATTCCAACACCTTACAAGCTTCTAGCTTTAGACATAC TGGTCTTCCCAGTCAGCCCCTTTTATTTTCCATGGATCCCTCTTATATGT TTTTTCCTTATCCCTGGGAAGAATATTCCTATGGCTTACTTTTCCCATTC TTCAGGTTTCAGCTTCAATATTACCTCCTTAGAGATTTTTCCTGCCAACC TTTTTTTTTTT	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	3/17			chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126584671	A A	AAAAAAAA others(984): Show AAAAAAAAAAAGGTTGGCAGGAAAAATCTCTAAGGAGGTAATATTGAAGC TGAAACCTGAAGAATGGGAAAAGTAAGCCATAGGAATATTCTTCCCAGGG ATAAGGAAAAAACATATAAGAGGGATCCATGGAAAATAAAAGGGGCTGAC TGGGAAGACCAGTATGTCTAAAGCTAGAAGCTTGTAAGGTGTTGGAATCT TACTCCAGGTGCAATGTGAAGTCTTGAATGTCTTTTAAGGTGCAGAATAA GAGGATTTGCTTTATCTTTTAATATCGCTATGTGATAGGTAGAGGATACA TTGAAGGGGAAAAGAGTAGAAGCAGGGAGATCAATTAAGAATGTATTATA GGCCAGGCGCAGTGGTACATGCCTGTAATCCCAGGACTTCGGGAGGCCGA GGTGGGTGGATCACCTGAGGTCAGCAGATCAAGACCAGCCTGGCCAACAC GGGGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTTGTGG TGGGCACCTGTAATCCCAGCTACTTGAGAGGCTAAGGCAGGAGAATCACT GGAACCCGGGAGGCGGAGGTTGCAGTGAAACGAGATCATGCCACTGCACT CCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAA AAAGATTATAGTGACTTAGTCTTAAGATTGCAGTGGTGGCCGGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCA CAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCT CTACTAAAAATACAAAAAATTAGCAGGGCGTGGTGGCAGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGTGAATGGCGTGAACCCGGGAGGT GGAGTTTGCAATAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCATC AGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	380	0.0026	991	c.313 others(1006): Show c.313-660_313-659insCTTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTCTGATGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTT ATTGCAAACTCCACCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCTGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACCACTGCAATCTTAAGACTAAGTC ACTATAATCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTGT TGCCCAGGCTGGAGTGCAGTGGCATGATCTCGTTTCACTGCAACCTCCGC CTCCCGGGTTCCAGTGATTCTCCTGCCTTAGCCTCTCAAGTAGCTGGGAT TACAGGTGCCCACCACAACGTCCTGCTAATTTTTGTATTTTTAGTAGAGA CGAGGTTTCCCCGTGTTGGCCAGGCTGGTCTTGATCTGCTGACCTCAGGT GATCCACCCACCTCGGCCTCCCGAAGTCCTGGGATTACAGGCATGTACCA CTGCGCCTGGCCTATAATACATTCTTAATTGATCTCCCTGCTTCTACTCT TTTCCCCTTCAATGTATCCTCTACCTATCACATAGCGATATTAAAAGATA AAGCAAATCCTCTTATTCTGCACCTTAAAAGACATTCAAGACTTCACATT GCACCTGGAGTAAGATTCCAACACCTTACAAGCTTCTAGCTTTAGACATA CTGGTCTTCCCAGTCAGCCCCTTTTATTTTCCATGGATCCCTCTTATATG TTTTTTCCTTATCCCTGGGAAGAATATTCCTATGGCTTACTTTTCCCATT CTTCAGGTTTCAGCTTCAATATTACCTCCTTAGAGATTTTTCCTGCCAAC CTTTTTTTTTT	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	3/17			chr5	TogoVar

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Search Results (Total: 6036 hits)