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
NXN_chr17_794310_984776	810309	G G	GTGGCGTG others(819): Show GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAATCTGT GGGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTACGAGT CTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTAC AAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACATT ACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACG TTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGAATGGCGTG CACGTTACGAGTCTGTGAGTGGCGTGCACATTACGAGTCTGTGAGTGGCG TGCACGTTACCAGTCCGTGTGAGTGGTGTGCACGTTACGAGTCCGTGTGA GTGGTGTGTACGTTACAAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGT GAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGTCT GTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGAGTCC GTGTGAGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTAC GAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGGGTGGTGTGCACGTT ACGAGTCCGTGTGAGTGGCGTGCACGTTACAAGTCTGTGAGTGGTGTGCA CGTTACGAGTCTGTGACTGGTGTGCACGTTACGAGTGCGTGTGAGTGGCG TGCACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGA GTGGTGTGCATGTTACGAGTCTGTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01257.hp2 others(4): Show HG00099.hp2 HG00323.hp1 HG01257.hp2 HG01258.hp2 HG02071.hp2 HG04199.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017 a0001c0001t0030	a0001c0001t0003g0180 a0001c0001t0006g0099 a0001c0001t0006g0100 others(4): Show a0001c0001t0003g0180 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0202 a0001c0001t0013g0220 a0001c0001t0017g0002 a0001c0001t0030g0237	7	242	0.0289	826	c.821 others(843): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTTGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTA ATGTGCACGCCACTCACAGACTCGTAACGTGCACGCCATTCACAGACTTG TAACGTACACACCACTCACACGGACTCGTAACGTGCACGCCACTCACAGA CTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACCCA CAGATTCGTAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(819): Show CACACCACACACACCATACACACATACACACCACACACATACACACTCCA CACACACCACACATATATCACACACACCACATACACACTCCACACACACC ACACATACACACACCATACACCACACACACACCACACACTACACACCACA CCCACCCACGCATACCACACATATCCCCTTACATACCACACACATCCCCT ACACACACGCCACATACACACACCATACACATCCCCCACAGACACACATA CCCCTACATACCACACACATCCCCTACACACATGCCATACACACACCATA CACATCCCCCACAGACACACATACACACCACACACATACACAAACACTGC ACACATACACACCCCACACATACAACACACACGACACACCACACACATAC ACAAACACTGCACACATACACACCCCACACATACAACACACACGACACAC CACACAACCATACAGACACAAACACATACACCACACACACCACATACACA ACAAACATGCCACACACAAATACCACACACACCACATACACACACCCATT CACCACACACCACATACACACCATTCACACTACACATACACTCCACACAC ACACCACATACACACCATACACACCACACATATCTCCACACACACACCAC ATACATACACATCCCATCCACACACACCACACACCCACACACACACACTC CAAACTCCACACACACTCCAAATACAACACAAATACACCTACACACACAT CACACACCCACACCACACACACACCACACAAACATGCCACACACATACCC CACACCATACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	316	0.0032	826	c.201 others(843): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTTGTATTTGGAGTGTGTGTGGAGTTTGG AGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTATG TGGTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTG TGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGA ATGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTTGTT GTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTGTGG TGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTTGTG TATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTG CAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATGTGT ATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGGGGT ATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGTGTA GGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTGGGT GTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTATGTGTG GTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGGTGTGTGT GGAGTGTGTATGTGTGTGGTGTGTATGTGTGTATGGTGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
OSGIN1_chr16_83948240_83971332	83950351	A A	ACACACGT others(819): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACAT GCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTAC ACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACACACTG GCACACACGTACACACACATGCACACATGATCACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 NA20805.hp2 HG03654.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0001 a0001c0004t0004g0006 a0001c0001t0001g0001 a0001c0004t0004g0006	2	350	0.0057	826	c.-30 others(837): Show c.-3052_-3051insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CTGGCACACGTACATGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACA TGCACATACACACTGGCACACACGTACACACACATGCACACATGATCACA TGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACA TGCACACATGAGCACATGTGCACACATGCACATACATACTGG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2888		chr16	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109953834	C C	CAAAAAAA others(819): Show CAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGTAGTGTGGAGATGCCCCT GAGACTGGAGACAAAAAGATTTAGATAATGAGGTTATTTATGCAAGAAAG ACCCAATGGCACCAGTTCTTATTTTGCACCTTTACCTACTCAAGCAAATG CTCTGTTAATTATACCACCCCCTGGAGGCTGGGAGGCATCTCTGCAGCGC TTCCTTACCAAAGGAGAAGCGGAGGGTAAAATCACTTTGTTTTCTTATCT GTTCATCAGGAGTCCTGTTGTTCTATTTGACAGTTTTTCCTTCACCATTC ATAAAAAGGATTAACAAAATTGCCCAAAACAACTCTATAAAGTCTAGGAG TGGCACGTCAGTCTCTGAAAAAGCAAAGGGGGTTTTGTTATTGTTGCTGA TGATGGTATTGTTACTATTTCACCACTGTCATAACAGCAAAGAGGAACAG CTGCCCTATGGTGTTATGCAAATGCCTTTTGATCTAGGCTATATCATCCT TGTGCAGCTATTAATAGACCACATCATCTCCCCAGCAGCCCCCAAGCCCT AGCTTCTGTCCTGCTTTTCTCAAACAGTATTAAATCTTGCATTTTATCAA CAGCACAAAAAAGCAAAGATTTGCTATTTAGAAGTGGACACAGGAAGGGG AATATCACACTCTGGGGACTGTAGTGGGGTGGGGGGAGGGGGGAGGGATA GCATTGGGAGATATACCTAATGCTAGATGACGCGTTAGTGGGTGCAGCGC ACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACA TGTACCCTAAAACTTAAAGTATAATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0185 a0003c0003t0001g0185	1	222	0.0045	826	c.496 others(845): Show c.496+21831_496+22656dupAAGAAAGTAGTGTGGAGATGCCCCTG AGACTGGAGACAAAAAGATTTAGATAATGAGGTTATTTATGCAAGAAAGA CCCAATGGCACCAGTTCTTATTTTGCACCTTTACCTACTCAAGCAAATGC TCTGTTAATTATACCACCCCCTGGAGGCTGGGAGGCATCTCTGCAGCGCT TCCTTACCAAAGGAGAAGCGGAGGGTAAAATCACTTTGTTTTCTTATCTG TTCATCAGGAGTCCTGTTGTTCTATTTGACAGTTTTTCCTTCACCATTCA TAAAAAGGATTAACAAAATTGCCCAAAACAACTCTATAAAGTCTAGGAGT GGCACGTCAGTCTCTGAAAAAGCAAAGGGGGTTTTGTTATTGTTGCTGAT GATGGTATTGTTACTATTTCACCACTGTCATAACAGCAAAGAGGAACAGC TGCCCTATGGTGTTATGCAAATGCCTTTTGATCTAGGCTATATCATCCTT GTGCAGCTATTAATAGACCACATCATCTCCCCAGCAGCCCCCAAGCCCTA GCTTCTGTCCTGCTTTTCTCAAACAGTATTAAATCTTGCATTTTATCAAC AGCACAAAAAAGCAAAGATTTGCTATTTAGAAGTGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTAGTGGGGTGGGGGGAGGGGGGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACGCGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAAAAAAAAAAAAAAAAAAAAAAAGAA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHKA1_chrX_72573814_72719306	72682077	G G	GGGGGGGT others(819): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCGGCCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGTCAGCCCCC CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCGT CCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCAAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCTGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	237	0.0042	826	c.537 others(843): Show c.537+2420_537+2421insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTTGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGG GGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGGCCGACCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
POLG_chr15_89311320_89339824	89325069	T T	TGAGTGAG others(819): Show TGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGTGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGAGTGAGAGAGTGAGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	398	0.0025	826	c.194 others(843): Show c.1949+380_1949+381insTCTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCACTCACTCTCTCACTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCACTCTCTCACTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCTCTCACTCTCACTCACTCACTCTCTCAC TCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTC TCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTC TCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTC ACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCAC TCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTC TCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCTC TCACTCACTCTCTCACTCACACTCACTCACTCACTCACTCTCTCACTCTC ACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCAC TCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCACTC ACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325131	A A	AGTGAGTG others(819): Show AGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGAGT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	398	0.0025	826	c.194 others(843): Show c.1949+318_1949+319insACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCAC TCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTC TCTCACTCACTCACTCACTCACTCTCTCACTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCAC TCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTC ACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCACTC TCTCACTCACTCTCTCACTCACACTCACTCACTCACTCACTCACTCTCTC ACTCTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCAC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(819): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATAATATGTAATACACAATATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAAT ACATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTA TATAAGTATATGTAATATATATTATACATTATTATATAAGCATATAATAT ATAATACATAATACATTATATATAAGCATATAACAATACATAATACATTA TATATAAGCATATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0214 a0001c0001t0012g0181 a0001c0001t0004g0214 a0001c0001t0012g0181	2	220	0.0091	826	c.24+ others(843): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATAATATGTAATACACAA TATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACATTATACAT TATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATGT AATATATATTATACATTATTATATAAGTATATGTAATATATATTATACAT TATTATATAAGCATATAATATATAATACATAATACATTATATATAAGCAT ATAACAATACATAATACATTATATATAAGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(819): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGCCAC ATGGGGAGGAGTGGGCCGCGAGGGGAGGAGGGTGGGCCGCGTGGGGAGGA GGGGGCTGTGAGGAGAGGAAGGGGCCCCGTGGGGAGGAGGGGAAGGCTTG GGGAGGAGGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGG GCCACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAG GAGGGGGGCCCGTGAGGAGGAGGGGAAGGCGTGGGGAGGGAGGGGGCGCG TGGGGAGGGAGGGGGTCGCGTGGGAGGAGGGGGGCCATGTGGGGAGGAGG GGGGCCGCGAGGGGAGGAGGGGGCGCGCGTGGGGAGGAGGGGGGCCGCGT GGGGAGGAGGGGGGCCGCGAGGGGGAGGAGGGGGGGCCGTGTGGGGAGGA GGGGGCCGCGTGGGCGGAGGAGGGGGGGGCCGCGTGGGGAGGAGGCGCCG TGTGGGGAGGAGGGGGCCGCGTGGAGGAGGAGGGGGCCGCGTGGGAGGAG GGGGCCGCCGAGGGGGAGGAGGGGGCCGCGTGGGAGGAGGCCCGTGTGGG GAGGAGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGGCC GTGTGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGGAGGA GGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGGAGGAGGGGGCCGCGT GGGAGGAGGGGCGCCGCGAGGGGAGGAGGGGGGCCGCGCTGGGGAGGAGG GGGCCCGCGTGGGAGGAGGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	67	0.0149	826	c.159 others(843): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCACGCGGGCCCC CTCCTCCCCAGCGCGGCCCCCCTCCTCCCCTCGCGGCGCCCCTCCTCCCA CGCGGCCCCCTCCTCCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCT CCTCCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCACACG GCCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCTCCTCC CCACACGGGCCTCCTCCCACGCGGCCCCCTCCTCCCCCTCGGCGGCCCCC TCCTCCCACGCGGCCCCCTCCTCCTCCACGCGGCCCCCTCCTCCCCACAC GGCGCCTCCTCCCCACGCGGCCCCCCCCTCCTCCGCCCACGCGGCCCCCT CCTCCCCACACGGCCCCCCCTCCTCCCCCTCGCGGCCCCCCTCCTCCCCA CGCGGCCCCCCTCCTCCCCACGCGCGCCCCCTCCTCCCCTCGCGGCCCCC CTCCTCCCCACATGGCCCCCCTCCTCCCACGCGACCCCCTCCCTCCCCAC GCGCCCCCTCCCTCCCCACGCCTTCCCCTCCTCCTCACGGGCCCCCCTCC TCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCATGTGGCC CCCTCCTCCCCACGCGGCTCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCC AAGCCTTCCCCTCCTCCCCACGGGGCCCCTTCCTCTCCTCACAGCCCCCT CCTCCCCACGCGGCCCACCCTCCTCCCCTCGCGGCCCACTCCTCCCCATG TGGCCCCCTCCTCCCCATGCCTTCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RIN2_chr20_19753258_20007456	19924228	C C	CATACTCC others(819): Show CATACTCCCACCTTCATACCCTCACCTTCATACCTCACTTCTTCATACCC TCACCTTCATACCCCACCTCTTCATACCCCCACCTTCACACCCTCACCTT CATACCCTCACCTTCATACCCCCACCTTCATACCCCCACCTTCATACCCC CACCTTCGTACCCCCACCTTCATACCCCACCTTCATACACCCACCTTCAT ACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATACCTCACCT TCCTACCCCCACCTTCATACCCCCACCTTCATAACCTCACCTTCATACCC CCACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCA TACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATACCCTCAC CTCCATACCCTCACCTCCATACCCCACCTTCCTACCCCCACCTTCATACC CCCACCTTCATACCCCACCTTCATACCCCCACCTTCATACCCTCACCTTC ATACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCATATCCCT ACCTTCATACTCCCACCTTCATACTCCCACCTTTTCATACCCCACCTCTT CATACCCCATCTTCATACCCCTACCTTCATACTCCCACCTCTTCATACCC CCACCTTCATACTCCCACCTTCATACCCCCACCTTCATACCCCACCTCTT CATACCCCACCTTCATACCCCTACCTTCATACTCCCACCTCTTCATACCC CACCTCTTCATACCCCCAACTTCATACCCCACCTTCATACTCCACCTCTT CATACCCCATCTTCATACCCCTACCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG06807.hp2 HG02486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0157 a0001c0002t0002g0158 a0001c0001t0001g0157 a0001c0002t0002g0158	2	276	0.0073	826	c.58- others(843): Show c.58-10871_58-10870insATACTCCCACCTTCATACCCTCACCTTC ATACCTCACTTCTTCATACCCTCACCTTCATACCCCACCTCTTCATACCC CCACCTTCACACCCTCACCTTCATACCCTCACCTTCATACCCCCACCTTC ATACCCCCACCTTCATACCCCCACCTTCGTACCCCCACCTTCATACCCCA CCTTCATACACCCACCTTCATACCCCACCTTCATACCCTCACCTTCATAC CCTCACCTCCATACCTCACCTTCCTACCCCCACCTTCATACCCCCACCTT CATAACCTCACCTTCATACCCCCACCTTCATACCCCACCTTCATACCCTC ACCTTCATACCCCCACCTTCATACCCCACCTTCATACCCTCACCTTCATA CCCTCACCTCCATACCCTCACCTCCATACCCTCACCTCCATACCCCACCT TCCTACCCCCACCTTCATACCCCCACCTTCATACCCCACCTTCATACCCC CACCTTCATACCCTCACCTTCATACCCCCACCTTCATACCCTCACCTTCA TACCCCCACCTTCATATCCCTACCTTCATACTCCCACCTTCATACTCCCA CCTTTTCATACCCCACCTCTTCATACCCCATCTTCATACCCCTACCTTCA TACTCCCACCTCTTCATACCCCCACCTTCATACTCCCACCTTCATACCCC CACCTTCATACCCCACCTCTTCATACCCCACCTTCATACCCCTACCTTCA TACTCCCACCTCTTCATACCCCACCTCTTCATACCCCCAACTTCATACCC CACCTTCATACTCCACCTCTTCATACCCCATCTTCATACCCCTACCTT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTATATTA others(819): Show TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATCTAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATATTATATTATGGATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATAGTATATTATGGATAATATAATATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATAATATATTATATTATGGATAAT ATAATATATTATATAATATATTATATTATGGATAATAATATAATATATTA TATAATATATTATATTATGGATAATATAATATATTATATAATATATTATA TTATGGATAATATAATATATTATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG02922.hp1 HG02451.hp1 HG02895.hp1 HG02922.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0009 a0001c0001 a0001c0003 a0008c0009	a0001c0001t0025 a0001c0003t0007 a0008c0009t0002 a0001c0001t0025 a0001c0003t0007 a0008c0009t0002	a0001c0001t0025g0078 a0001c0003t0007g0115 a0008c0009t0002g0083 a0001c0001t0025g0078 a0001c0003t0007g0115 a0008c0009t0002g0083	3	160	0.0188	826	c.389 others(847): Show c.389-154377_389-154376insGGATAATATAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGGAT AATATAATATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATAATATATTATATTATGGATAATATAATATATTATATAATATA TTATATTATGGATAATAATATAATATATTATATAATATATTATATTATGG ATAATATAATATATTATATAATATATTATATTATGGATAATATAATATAT TATATAATATATTATATTATGGATAATATAATATATTATATTATATTATG GATAATATAATATATTATATTATATTATGGATAATATAATATATTATATT AT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(819): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATC TTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCC ACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCAC CATCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCAC CCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCA CCATCACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACC ATCCTTCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCA TCACCTCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATC ACCCTCGCCATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01255.hp2 HG01256.hp2 others(10): Show HG00408.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01928.hp1 HG01975.hp2 HG02132.hp2 HG02293.hp2 NA18939.hp1 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0012 a0001c0001t0047 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0047 a0001c0003t0001 a0001c0007t0001 a0001c0009t0001	a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0141 others(10): Show a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0141 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0012g0009 a0001c0001t0047g0231 a0001c0003t0001g0042 a0001c0003t0001g0057 a0001c0007t0001g0115 a0001c0009t0001g0177 a0001c0009t0001g0218 a0001c0009t0001g0219	13	244	0.0533	826	c.193 others(845): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGA TGGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATG GTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAG GGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGAT GGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGT GATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGT GGTGAAGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGC GAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPTOR_chr17_80539838_80971368	80665328	T T	TTTCTTTT others(819): Show TTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCATGTCCTTTCCTTTCTTTT CTTTTCATGCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0007 a0001c0065t0007	a0001c0065t0007g0101 a0001c0065t0007g0101	1	196	0.0051	826	c.348 others(845): Show c.348+21521_348+21522insTTTTTTCTTTTCTTTTCTTTTCTTTT CATGTCCTTTCCTTTCTTTTCTTTTCATGCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(819): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAAGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACA GGAGGAGGAGGAGGAAGCACAGGAGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0093 a0002c0003t0001g0093	1	203	0.0049	826	c.-12 others(845): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTC CTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCTTAGCACCTGTTCTTCCTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACT GCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCC TCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCA CAGTGTCCTAGCACCTGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(819): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACA GGAGGAGGAGGAGGAAGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp1 others(33): Show HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01081.hp2 HG01123.hp2 HG01346.hp2 HG01928.hp1 HG01928.hp2 HG02056.hp2 HG02129.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02717.hp2 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0005 a0007	a0000c0009 a0000c0014 a0001c0001 others(12): Show a0000c0009 a0000c0014 a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0023 a0001c0028 a0002c0003 a0002c0008 a0005c0022 a0007c0027	a0000c0009t0001 a0000c0014t0001 a0001c0001t0001 others(13): Show a0000c0009t0001 a0000c0014t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0013t0001 a0001c0023t0001 a0001c0028t0001 a0002c0003t0001 a0002c0003t0004 a0002c0008t0001 a0005c0022t0001 a0007c0027t0001	a0000c0009t0001g0053 a0000c0014t0001g0067 a0001c0001t0001g0007 others(33): Show a0000c0009t0001g0053 a0000c0014t0001g0067 a0001c0001t0001g0007 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0002t0001g0040 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0092 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0005t0001g0024 a0001c0005t0001g0068 a0001c0005t0001g0117 a0001c0006t0001g0118 a0001c0007t0001g0099 a0001c0007t0001g0105 a0001c0007t0001g0176 a0001c0007t0001g0182 a0001c0013t0001g0054 a0001c0023t0001g0102 a0001c0028t0001g0192 a0002c0003t0001g0076 a0002c0003t0001g0078 a0002c0003t0001g0097 a0002c0003t0004g0119 a0002c0003t0004g0120 a0002c0008t0001g0049 a0002c0008t0001g0091 a0002c0008t0001g0094 a0002c0008t0001g0122 a0005c0022t0001g0095 a0007c0027t0001g0173	36	203	0.1773	826	c.-12 others(845): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTC CTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACT GCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCC TCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCA CAGTGTCCTAGCACCTGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43339615	C C	CCCCTACT others(819): Show CCCCTACTCTCCTTACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCC CCACTCTCCTCACTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCTA CTCTCCTCATTCTACCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCT CCTCATTCTACCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTC ATTCTACCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTC TATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTA CCCCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCC CCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCA CAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCCCCAC AAGCACTGCTCCAGCCCTCCCCCACTCTCCTCACTCTATGCCCCCACAAG CATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCATA GCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCACT GCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCGCT CCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCA GCCCTCCCCTACTCTCCTCACTCTATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0012 a0002c0002t0018g0012	1	280	0.0036	826	c.89- others(839): Show c.89-381_89-380insCATAGAGTGAGGAGAGTAGGGGAGGGCTGGAG TGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCGA TGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGC TTGTGGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGC TTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGT GGGGGCATAGAGTGAGGAGAGTGGGGGAGGGCTGGAGCAGTGCTTGTGGG GGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGG GGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGAT AGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAG AATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAA TGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGGGTAGAA TGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATG AGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGTAGAATGAGGA GAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGTAGAATGAGGAGAGT GGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGTAGAATGAGGAGAGTAGGG GAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGGGGGAG GGCTGGAGTGATGCTTGTGGGGGGATAGAGTAAGGAGAGTAGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SPADH_chr10_122667850_122684494	122681692	G G	GTGTGTGA others(819): Show GTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCT GTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGAACT TTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAAC ATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCACGTGTGAACTGGA GATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCATGTG TGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTT TCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAA CCATGGTTTCCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTAC CTCTGTCAACCATGGTTTTCTCGTGTGTGAACCGGAGATAGAAACATCAG ACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACTGGAGATAG AAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCATGTGTGAAC TGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCG TGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGAACTTTTACCTCTG TCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTT TTACCTCTGTCAACCATGGTTTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	414	0.0024	826	c.26 others(837): Show c.2644_*2645insTGTGTGAACTGGAGATAGAAACATCAGACCTTTT ACCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGGAGATAGAAACATC AGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGAT AGAAACATCAGAACTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGA ACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCT CACGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCA TGGTTTCCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTC TGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACC TTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACTGGAGATAGAAA CATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACCGG AGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGT GTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTT TTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCA ACCATGGTTTCCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCA GAACTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATA GAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCA	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		2199		chr10	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(819): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGTCAGTGGTGGG GATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCCCGGTGATGGTGT CAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCGGTGATG GTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGTAGTACTCCCAGT GATGGTGTCATGGTGGAGATGGTGATGGTGGTGGTGATGGTAGTACTCCC GGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTAC TCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACGGTA GTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGAT GGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTCCCAGTGATAGTG TCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGTATTCCTGGTGAT GGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAGTACCCCTGGTGG TGGTGATTATGAAAATGGCTATGTCAGTGATGCTGATTGTGATGGTGACT GAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATGGCTATGGTGGTG ATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	270	0.0037	826	c.-78 others(845): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGG TAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTG ATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGT GGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTGATGGT GGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGA TGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATG GTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGG GATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATG GTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGC GATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGA TGATGGTAGTACCCCTGGTGGTGGTGATTATGAAAATGGCTATGTCAGTG ATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAG GTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGAGATGGTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
TCF25_chr16_89868592_89916379	89908689	C C	CCTCCCAG others(819): Show CCTCCCAGCTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGC CTCCCTCCTCCCAGCTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAGC TCCCACCTCCCAGCTCCCACCTCCCTCCTCCCAGCTCCCACCTCCCTCCT CCCAGCTCCCACCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTC TCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCC CAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCT GGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCACCTCCCT CCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAG CTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACC TCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCT CCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCTCCTTTCACCTC CCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTC CAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTCCCAGCTCCC ACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCA CCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTC CTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGC TCCCACCTTCCAGCTCCCAGCTCCCAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	300	0.0033	826	c.179 others(845): Show c.1799+1372_1799+1373insAGCTCCCACCTCCCACCTCCCAGCTC CCACCTCCCAGCTCCCGCCTCCCTCCTCCCAGCTCCCACCTCCCAGCTCC CACCTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCC AGCTCCCACCTCCCTCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCA GTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAG CTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACC TAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCT CCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTC CTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCC CTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCC TCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCA CCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAG CTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACC TCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCT CCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTC CCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCG CAGTTCCCACCTCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(819): Show CCACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGA CCGATCACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACA GTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	392	0.0026	826	c.228 others(845): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGA CTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTG GATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX19_chr17_82354247_82368775	82360211	T T	TTTCCCTC others(819): Show TTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCA GTTTCCCTCAAGTTTCCCTCAGATTCCCCCAGTTTCCCTCAAGTTTCCCT CAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCG AAGTTTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCC CTCGGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTC CCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTT CCCTCAGGTTCCCTCAGGTTCCCTCAGGTTCCCTCAAGTTTCCCTCAGGT TCCCCCAGTTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGT TTCCCTCAAGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAG TTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAG GTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAG TTTCCCTCAAGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAA GTTTCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGATTCCCCC AGTTTCCCTCAAGTTTCCCTCAGTTTCCCTCAGGTTCCCTCAGGTTCCCT CAGTTTCCCTCAGGTTCCCGAAGTTTCCCTCAAGTTCCCCTCAGGTTCCC CCAGTTTCCCTCAAGTTTCCCTCGGGTTCCCCCAGTTTCCCTCAGGTTCC CTCAGTTTCCCTCAAGTTTCCCTCAGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	380	0.0026	826	c.-27 others(843): Show c.-272+931_-272+932insTCAGGTTCCCTCAGTTTCCCTCAAGTTT CCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGATTCCCCCAGTT TCCCTCAAGTTTCCCTCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAGT TTCCCTCAGGTTCCCGAAGTTTCCCTCAAGTTCCCCTCAGGTTCCCCCAG TTTCCCTCAAGTTTCCCTCGGGTTCCCCCAGTTTCCCTCAGGTTCCCTCA GTTTCCCTCAAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCT CAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAGGTTCCCT CAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCTCAAGTTTCC CTCAGGTTCCCCCAGTTTCCCTCAAGTTCCCCCAGTTTCCCTCAGGTTCC CTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTC CCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTC CCTCAGGTTCCCCCAGTTTCCCTCAAGTTCCCCCAGTTTCCCTCAGGTTC CCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAAGTT TCCCTCAGATTCCCCCAGTTTCCCTCAAGTTTCCCTCAGTTTCCCTCAGG TTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCGAAGTTTCCCTCAAG TTCCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCGGGTTCCCCCA GTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCC	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(819): Show CACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCC GGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCC CTGTCCCCACACCCCTGACCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCC TGTCCCCAGACCCCTATCCCCAGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACA CCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	388	0.0026	826	c.22 others(837): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCTGGGGATAGGGGTCTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGTCAGGGGTGTGGGGACAGGGGTCCT GGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCGGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTG TGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TMEM242_chr6_157284025_157328519	157311001	C C	CATCATAG others(819): Show CATCATAGTGTGCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAG TGTGCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGC CTAATCATAGTGTCCCAGTGAGCACTCACCTGGCCTAATCATAGTGTCCC AGTGTCCGCTTACCTAGCCTCATCATAGTGGCCCAGTATCCGATCACCTA GATTCATCATAGTGCCCCAGTGTGTGCTCACCTAGCCTCATCACAGTGTC CCAGTGTGCACTCACCTAGCCTCATCACAGTGCCCCAGTGTGCGCTCACC TAGCCTCATCATAGTGTCCCAGTGTACACACACCTGGCCTCATCATGGTG TCCCAGTGTGCGCTCACCTAGCCTCATCAGAGTGCCCCAGTGTGCACTCA CCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCTTCATCATAG GGTCCCAGTGTGCACTCACCCGGCCTCATCACAGTGTCCCAGTATGCGCT AACCTAGCCTCATCATAGTGTCCCAGTGTTCGCTCACCTAGCCTGATCAT AGTCCCCCAGTGTGCACTCACGTGGCCTCATCATACTGTCCCAGTGTGCA CTCACCTGGCCTCATCATAGTGTCCCAGTGAGCACTCAACGGGCCTAATC ATAGTGTCCCAGTGTCCGCTTACCTAGCCTCACCATAGTGGCCCAGTATC CGATCACCTACATTCATCATATTGTCCCAGTGTGCACTCACCTGGCCTCA TCATAGTGCCCCAGTGTGTGCTCATCTAGCCTCATCATAGTGTCCCAGTG TGCCCTCACCTAGCCTCATCATACTAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp1 HG01258.hp1 others(5): Show HG00733.hp1 HG01256.hp1 HG01258.hp1 HG01517.hp1 HG02896.hp2 HG02897.hp1 HG03654.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0278 a0001c0001t0003g0279 others(4): Show a0001c0001t0003g0016 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0304 a0001c0001t0003g0305	8	344	0.0233	826	c.327 others(843): Show c.327+7780_327+7781insATAGTATGATGAGGCTAGGTGAGGGCAC ACTGGGACACTATGATGAGGCTAGATGAGCACACACTGGGGCACTATGAT GAGGCCAGGTGAGTGCACACTGGGACAATATGATGAATGTAGGTGATCGG ATACTGGGCCACTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATG ATTAGGCCCGTTGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGT GCACACTGGGACAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTA TGATCAGGCTAGGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTA GCGCATACTGGGACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACCC TATGATGAAGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGT GAGTGCACACTGGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGAC ACCATGATGAGGCCAGGTGTGTGTACACTGGGACACTATGATGAGGCTAG GTGAGCGCACACTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGGG ACACTGTGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCT AGGTGATCGGATACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTG GGACACTATGATTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAGG CCAGGTGAGTGCACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACAC TGGGGCACTATGATGAGGCTAGGTGAGTGCACACTGGCACACTATGAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGTAAGGA others(819): Show AGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG GGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGC ATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGG GGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAA TGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGGGTAA GTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTG AGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGGGGTT GAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGAGGGG GTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGTG GTGAGTGAGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTGAGGG GGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTGAG GAGGTGAGTGAGGGTTGAGGGAGTGAGGGGGTGAGTGAGGGGGCGAAGGG GTGAGTGAGGGGGTGAGGGGGTGAAGGCGTGAGTGAGGGGGTAAGGGGAT GAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAG TGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTG AGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAG TGAGGAGGTGAGGGGGTGACTGAGGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0129 a0007c0021t0001g0129	1	382	0.0026	826	c.728 others(843): Show c.728-1335_728-1334insCTCCTCAGTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTCGCCCCCTCAC TCACCCCCTCGCCCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTCA TCCCCTTACCCCCTCACTCACGCCTTCACCCCCTCACCCCCTCACTCACC CCTTCGCCCCCTCACTCACCCCCTCACTCCCTCAACCCTCACTCACCTCC TCACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCGTCACCC CCTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCTCACTCACC ACCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCTCACC CCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACTCA ACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCCTC ACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTACT TACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCAT TCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCCCC CTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCATG CCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATCCC CTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(819): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTA CCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTC CCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCC CCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCC CCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	114	0.0088	826	c.-25 others(845): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTC CTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATC CCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287451	C C	CCCTCCCC others(819): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCA GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCTGCACCCTCTCTGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCACCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	348	0.0029	826	c.519 others(843): Show c.519+1172_519+1173insCTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGTGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCAGAGAGGGTGCAGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(819): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACCCCACACACACATCACATACCACACACAAACCACACACCCTAC ACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp1 NA18906.hp1 HG02818.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0323 a0001c0001t0002g0185 a0001c0001t0004g0325 a0001c0001t0001g0323 a0001c0001t0002g0185 a0001c0001t0004g0325	3	338	0.0089	826	c.35 others(845): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACACACCCCACACACACATCACATACCACACACAAACC ACACACCCTACACGCACCACACACCCCACACACACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(819): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCTCCCCTCCTCTCTCCTCCC CTCCCCCCCCTCCTCTCTCCTCCCCTCTCCTCCTCCCCTCCTCCCTCCTC CCTCCCTCCTCTCTCTCCCTCTCCCTCCTCTCTCCTCCCCTCCCCTCCCC TCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCTCCCTCCCCTCCCCTC CCCTCCTCTCTCTCCCTCCCCTCCCCTCCCTCCTCTCTCCTCCCCTCCCC TCCCCCTCTCCTCCCCTCTCCCCTCCCTTCCCCTCTCCTCCCTCCCTCCC CTCTTCCCCTCTCCTCCCTCCTCCCTCCCCTCCCTCCCTCTCCTCCCCTC CTCTCCCTCCTCCTCCCTCCTCCCCTCCCCTCCTCCTCCTCTCCTCCCTC CCTCTCCTCCCCTCCTCTCCTCCCTCTCCCTCCCTCCCCTCTCCTCCCTC CTCTCTCCTCCCTCCCTCTCCCCTCCCTCTCCTCCTCTCTCCTCCCCTCC TCCTCCCCTCTCTCCTCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCTCCCTCCCTTCCCCTCTCC TCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCT CCACTCCTCTCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTC CACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTC CCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTC CCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	202	0.0050	826	c.53 others(837): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGAGAGGAGTGGAGGAGAG GGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGAGGAGAGG GGAAGGGAGGGAGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GAGAGGGGAAGGGAGGGGAGAGGAGGGAGGAGAGAGGGGAGGAGGAGGGG AGGAGAGAGGAGGAGAGGGAGGGGAGAGGGAGGGAGGAGAGAGGAGGGAG GAGAGGGGAGGGAGGGAGAGGGAGGAGAGGAGGGGAGGAGAGGGAGGGAG GAGAGGAGGAGGAGGGGAGGGGAGGAGGGAGGAGGAGGGAGAGGAGGGGA GGAGAGGGAGGGAGGGGAGGGAGGAGGGAGGAGAGGGGAAGAGGGGAGGG AGGGAGGAGAGGGGAAGGGAGGGGAGAGGGGAGGAGAGGGGGAGGGGAGG GGAGGAGAGAGGAGGGAGGGGAGGGGAGGGAGAGAGAGGAGGGGAGGGGA GGGGAGGGAGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGAGAGGGAGAGAGAGGAGGGAGGGAGGAGG GAGGAGGGGAGGAGGAGAGGGGAGGAGAGAGGAGGGGGGGGAGGGGAGGA GAGAGGAGGGGAGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
WDR7_chr18_56646359_57034792	57024900	A A	ACTATGAT others(819): Show ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTC ACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTA TGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGAT ATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATT CTCAGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAG GATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCC CTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG AGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG GCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGGA TATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTAT TCTCAGACAGGAATAGGGATATGTGAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	144	0.0069	826	c.427 others(845): Show c.4270-2083_4270-2082insCAGGATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATT TCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGT TATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTA TGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGG AATAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGT CCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATG TGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTC AGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGAT TTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGG GATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(819): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTTTCCCCCTTCCCCCCTTTCCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	246	0.0041	826	c.-10 others(843): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCG TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTTCCCC CTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCT TCCCCCCTTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ADPRHL1_chr13_113394611_113458488	113419002	T T	TCCTTCCT others(820): Show TCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCC TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCC CTTCCTTCTTTTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTCTCCTTC CTTCACTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	262	0.0038	827	c.106 others(846): Show c.1061+3823_1061+3824insGAGGGAGGGAGGGAGGGAGGGAGTGA AGGAAGGAGAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGG GAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGG AGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA AGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGG GGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAA GAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAG G	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(820): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCC CTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTT CCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	262	0.0038	827	c.106 others(846): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAG GGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGG GAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAA GAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAG GGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAA GGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAA GGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGG G	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(820): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCAC CCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCC CCACCCTCCATCTGCCCCCAACCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA19007.hp1 NA18943.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0062 a0001c0001t0006 a0001c0001t0062	a0001c0001t0006g0037 a0001c0001t0062g0038 a0001c0001t0006g0037 a0001c0001t0062g0038	2	268	0.0075	827	c.-37 others(838): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACC TCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCC ACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCC ATCTTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3664		chr5	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTTCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0271 a0001c0002t0035g0271	1	292	0.0034	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC TTCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0133 a0001c0002t0013g0133	1	292	0.0034	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0022 a0002c0003t0022	a0002c0003t0022g0289 a0002c0003t0022g0289	1	292	0.0034	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGGG GCCGACCCCCCCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01169.hp1 others(8): Show HG00741.hp1 HG01168.hp1 HG01169.hp1 HG02559.hp1 HG02622.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03471.hp2 HG03516.hp2 HG03704.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0008 a0002c0003t0016 a0002c0003t0023 others(2): Show a0002c0003t0008 a0002c0003t0016 a0002c0003t0023 a0002c0004t0021 a0002c0004t0025	a0002c0003t0008g0275 a0002c0003t0008g0276 a0002c0003t0008g0277 others(8): Show a0002c0003t0008g0275 a0002c0003t0008g0276 a0002c0003t0008g0277 a0002c0003t0008g0278 a0002c0003t0008g0279 a0002c0003t0008g0280 a0002c0003t0016g0286 a0002c0003t0016g0287 a0002c0003t0023g0285 a0002c0004t0021g0288 a0002c0004t0025g0292	11	292	0.0377	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGC GGGGGGCCGACCCCCCCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp2 HG06807.hp1 others(1): Show HG02809.hp1 HG03453.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0265 a0001c0001t0004g0267 others(1): Show a0001c0001t0004g0148 a0001c0001t0004g0265 a0001c0001t0004g0267 a0001c0001t0004g0268	4	292	0.0137	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	292	0.0034	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCAGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCTCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0263 a0001c0002t0024g0263	1	292	0.0034	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCAGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCTCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCGGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTCGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0260 a0001c0001t0005g0260	1	292	0.0034	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGGTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTCGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02615.hp1 HG02922.hp2 others(5): Show HG01099.hp2 HG02615.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp1 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 others(5): Show a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258	8	292	0.0274	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGGTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp2 NA18747.hp2 HG00673.hp1 HG02083.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0105 a0001c0001t0003g0108 a0001c0001t0003g0129 a0001c0001t0001g0105 a0001c0001t0003g0108 a0001c0001t0003g0129	3	292	0.0103	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGGTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(820): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGTGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18949.hp2 NA18955.hp1 others(1): Show HG00423.hp1 NA18949.hp2 NA18955.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0047 a0001c0001t0003 a0001c0001t0047	a0001c0001t0003g0068 a0001c0001t0003g0096 a0001c0001t0003g0097 others(1): Show a0001c0001t0003g0068 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0047g0104	4	292	0.0137	827	c.207 others(848): Show c.2079+60658_2079+60659insAGGGGGGGTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGTGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(820): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGTGGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGG AGGAAGGGGGAAGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGG GGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGA GGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGGAAGGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGA GGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAA GGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGG GGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAA GAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0008 a0005c0006t0001g0008	1	300	0.0033	827	c.-70 others(836): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGTGGGGAAGAGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGAAGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGA AGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGC GGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGG GAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGA GGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(820): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGTGGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGG AGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGG GGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGG GGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGA GGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAG GAAGGGGAAGAAGGAGGAGGAAGGGGGGGAAGGGGGAGCGGGAGGAGGAA GGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGG GGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAA GAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0008 a0005c0006t0001g0008	1	300	0.0033	827	c.-70 others(836): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGTGGGGAAGAGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGA AGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGC GGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGG GAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGA GGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(820): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGAT GAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03041.hp2 HG01358.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0268 a0001c0001t0004g0213 a0001c0001t0002g0268 a0001c0001t0004g0213	2	336	0.0060	827	c.248 others(844): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTT TGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(820): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGAT GAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03017.hp2 HG02683.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0283 a0001c0001t0011g0290 a0001c0001t0004g0283 a0001c0001t0011g0290	2	336	0.0060	827	c.248 others(844): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTT TGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(820): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTC TTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCT CTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCC TCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTC CTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0242 a0001c0002t0003g0242	1	270	0.0037	827	c.162 others(848): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTC CCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTC CTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTT TCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC CCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(820): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTC TTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCT CTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCC TCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTC CTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0251 a0001c0002t0003g0251	1	270	0.0037	827	c.162 others(848): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTC CCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTC CTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTT TCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC CCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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