Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GPA33_chr1_167047836_167095377	167056594	T T	TGTATAGT others(1064): Show TGTATAGTGTGTGTGATGGGAGTGTGATGTGTGGTGTGTGTATGTGGCAT AAGGAGTGTGTGTGATATGAGATGTGTATGTGGTGGCTGGGTGGTGTATG GTGTGCTGTGCACTATGAGAGTTGTGTGTGTGCATGTAGTGTGTGGTGTG TGTATAAGGAGTGTGTGTGCTGTGTGTGTATAGTGTGTGTTTTGTGTGTG TTTCTGGGTTGTGTGTGGTATGGGGGTGGTGAATGTGTATTTGTGGTGTG TGGTGTGTGTGTGGTATGTGAATGTGTGTAAAGTGTGGGAGGTATATGTG TGTGGTGTGGGGGGCAGTGAGTGTGTGTGGTGTGTGTAGTGTGTATGTGT AGAGTGTGTAGTGTGTGGTGTATGTGGTGTGTGTGGTGTATGTGGTGTGT GTGGTGTGTGTATGGCGTGTGTGTGGTGTATGGTGTTTTGGGGTGCCTGG GAAGTATATGTGTGTGGTATGGGGGGCAGTGTGTGTGTTGTGTGTAGTGT ATGGTATGTGAGGGGTGTGTGTATGGTGTGTGTAGTGTGTGTGATGTGGT GTGTGTTGTAAGTGTGTGATGTGTGTGGTGTGTGTAGTGTGTGTGGTGCA TGTGGTAAGTGTGTGATGTGTGTGGTGTGTGGTGTGTGGTGTGTGCGGTG TGTGTAATATGTGTGGTGCCTGTGGTGAGTGTGTGATGTGTGTGGTGTAT GTAGGGTGTCTGGTGTGTATGGTGCATGTGTGATGTGTGTGTGGCATGTG TAGTGTGTGGTGCGTGTGGTGTGTCTGGTGTGTGGTGTGTGTGTGGTGGT GTGTGTAGTGTGTGGTGCGTGTGGTGTGTGATGTGTGTAGTGCATGTGTG GGGTGTGTGTGTGGTGTGTGTAGTTGTGTGGTACATGTGGTGTGTGTTGT GTGTGGTGTGTGTGTGGCATGTGTAATGTGTGGTGCATGTGGTGTGGTGT GTGTGTGGCAGCATGTGTAGTGTGTGTGGTGTGTGGTGTGTGATGTGTGT GGTGTGCGGTGTGTGTAGTGTGTGGTATGGTGAGTGTGTGATGTGTCTGG TGTGTGGTGTGTGATGTGTGTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	370	0.0027	1071	c.572 others(1086): Show c.572-746_572-745insCACACACATCACACACCACACACCAGACAC ATCACACACTCACCATACCACACACTACACACACCGCACACCACACACAT CACACACCACACACCACACACACTACACATGCTGCCACACACACACCACA CCACATGCACCACACATTACACATGCCACACACACACCACACACAACACA CACCACATGTACCACACAACTACACACACCACACACACACCCCACACATG CACTACACACATCACACACCACACGCACCACACACTACACACACCACCAC ACACACACCACACACCAGACACACCACACGCACCACACACTACACATGCC ACACACACATCACACATGCACCATACACACCAGACACCCTACATACACCA CACACATCACACACTCACCACAGGCACCACACATATTACACACACCGCAC ACACCACACACCACACACCACACACATCACACACTTACCACATGCACCAC ACACACTACACACACCACACACATCACACACTTACAACACACACCACATC ACACACACTACACACACCATACACACACCCCTCACATACCATACACTACA CACAACACACACACTGCCCCCCATACCACACACATATACTTCCCAGGCAC CCCAAAACACCATACACCACACACACGCCATACACACACCACACACACCA CATACACCACACACACCACATACACCACACACTACACACTCTACACATAC ACACTACACACACCACACACACTCACTGCCCCCCACACCACACACATATA CCTCCCACACTTTACACACATTCACATACCACACACACACCACACACCAC AAATACACATTCACCACCCCCATACCACACACAACCCAGAAACACACACA AAACACACACTATACACACACAGCACACACACTCCTTATACACACACCAC ACACTACATGCACACACACAACTCTCATAGTGCACAGCACACCATACACC ACCCAGCCACCACATACACATCTCATATCACACACACTCCTTATGCCACA TACACACACCACACATCACACTCCCATCACACACACTATAC	GPA33	ENSG00000143167.12	transcript	ENST00000367868.4	protein_coding	4/6			chr1	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1064): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATACAATGTATATTATATATAAT ATACATTGTATATAATGTATATTACATATAATATACATTATATAATGTAT ATTACATATAATATACATTGTATATAATGTATATTACATATAATATACAT TGTATATAATGTATATTACATATAATATACATTATATATAATGTGTATAT TACATGTAATATACATTATATATAATGTATATTATATGTAATATATACAT TATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATAT ATTATATGTAATATATACATTATATATAATGTATATATTACATGTAATAT ATACATTATATATAATGTATATTACATGTAATATATACATTATATATAAT GTATATTACATGTAATATATACATTATATATAATGTATATTATATGTAAT ATACATTATATATAATGTATATTATATGTAATGTATATTATATGTAATAT ATACATTGTATATAATGTATATTATATGTAATATACATTATATAATGTAT ACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18952.hp2 NA18970.hp2 NA18939.hp2 NA18952.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0204 a0001c0001t0001g0018 a0001c0001t0001g0204	3	350	0.0086	1071	c.94- others(1084): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATACAA TGTATATTATATATAATATACATTGTATATAATGTATATTACATATAATA TACATTATATAATGTATATTACATATAATATACATTGTATATAATGTATA TTACATATAATATACATTGTATATAATGTATATTACATATAATATACATT ATATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATT ATATGTAATATATACATTATATAATGTGTATATTATATGTAATATATACA TTATATATAATGTATATATTATATGTAATATATACATTATATATAATGTA TATATTACATGTAATATATACATTATATATAATGTATATTACATGTAATA TATACATTATATATAATGTATATTACATGTAATATATACATTATATATAA TGTATATTATATGTAATATACATTATATATAATGTATATTATATGTAATG TATATTATATGTAATATATACATTGTATATAATGTATATTATATGTAATA TACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1064): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATATTATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATACAATGTATATTATATATAAT ATACATTGTATATAATGTATATTACATATAATATACATTATATAATGTAT ATTACATATAATATACATTGTATATAATGTATATTACATATAATATACAT TGTATATAATGTATATTACATATAATATACATTATATATAATGTGTATAT TACATGTAATATACATTATATATAATGTATATTATATGTAATATATACAT TATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATAT ATTATATGTAATATATACATTATATATAATGTATATATTACATGTAATAT ATACATTATATATAATGTATATTACATGTAATATATACATTATATATAAT GTATATTACATGTAATATATACATTATATATAATGTATATTATATGTAAT ATACATTATATATAATGTATATTATATGTAATGTATATTATATGTAATAT ATACATTGTATATAATGTATATTATATGTAATATACATTATATAATGTAT ACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	350	0.0029	1071	c.94- others(1084): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATATTATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATACAA TGTATATTATATATAATATACATTGTATATAATGTATATTACATATAATA TACATTATATAATGTATATTACATATAATATACATTGTATATAATGTATA TTACATATAATATACATTGTATATAATGTATATTACATATAATATACATT ATATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATT ATATGTAATATATACATTATATAATGTGTATATTATATGTAATATATACA TTATATATAATGTATATATTATATGTAATATATACATTATATATAATGTA TATATTACATGTAATATATACATTATATATAATGTATATTACATGTAATA TATACATTATATATAATGTATATTACATGTAATATATACATTATATATAA TGTATATTATATGTAATATACATTATATATAATGTATATTATATGTAATG TATATTATATGTAATATATACATTGTATATAATGTATATTATATGTAATA TACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
LDLRAD3_chr11_35939062_36237136	36055118	A A	AGTTGGAT others(1064): Show AGTTGGATGAATGGATGGATGGATAGATGGATGGATGGATGGGTGGATGA ATGGATGGATGGATGCATGGATGGATGGATGGATGGTTGGATGAATGGAT GGATGGGTGCATGGATGGATGGATGGATGGATGGATGGATGAATGGATGG ATGGGTGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATGCAT GGATGGATGGACGATGGATACATGGATGCATGGATGGATGGATGCATGGA TGGATGGATGATGGATACATGGATGCATGGATGGATGGTTGGATGGATGG ATGCATGGATGCATGGATGGATGGATGCATGGGTGGATGGATGCATGGAT GGATGGATGGATGGATGGATGGATAAATGGATGCATGGATGCATGGATGG ATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGCAT GGATGGATGGATGAATGGATGGATGGATGGATGGATGAATGGATGAATGG ATGAATGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGT CAGTGGATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGG GTAGATTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACC ACATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGAT GCCCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGT AAACAAGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCA GATGCTTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTA TCCCCACACCAAACAACATTAGCTCCTGCTACATGGGAGATGCTTAGTAC ACTTTTGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTAGTACTT GTGGGGGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTACTGCTGT CTCAGAGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCTGAGCAA GAATAAGATTGCTTCCATCTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	236	0.0042	1071	c.193 others(1090): Show c.193+18869_193+18870insGTTGGATGAATGGATGGATGGATAGA TGGATGGATGGATGGGTGGATGAATGGATGGATGGATGCATGGATGGATG GATGGATGGTTGGATGAATGGATGGATGGGTGCATGGATGGATGGATGGA TGGATGGATGGATGAATGGATGGATGGGTGCATGGATGGATGGATGGATG GATGGATGGATGGATGGATGCATGGATGGATGGACGATGGATACATGGAT GCATGGATGGATGGATGCATGGATGGATGGATGATGGATACATGGATGCA TGGATGGATGGTTGGATGGATGGATGCATGGATGCATGGATGGATGGATG CATGGGTGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATAAA TGGATGCATGGATGCATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATAGATGCATGGATGGATGGATGAATGGATGGATGGA TGGATGGATGAATGGATGAATGGATGAATGGATGGATGAGTAGGTGGAAG GGTAGATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTGGT TGAGTAGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAAGA CAGAGGTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCTCC CTTCCTATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCATT GCCTCTCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTTAT AGTTTTCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAGGT CTGATACACCTTGTTCACTGTTATCCCCACACCAAACAACATTAGCTCCT GCTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAATCAATGAAAGA ACAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATTGCTTGCATTCT TACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCTCTTACCAGGA GGCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LMF1_chr16_848634_975984	953651	A A	ACACCCAC others(1064): Show ACACCCACCCCAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGA AACCAGCTTCCTACACGTCCACACAGACACCCCCACCCACACCAGCTTCC TACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACA CAGACACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCCACC CCAAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCC TCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCCTCCTGCACATCACACAGACACAGA CCCGAAACCAGCTTCCTACACGTCCACAACAGACAACCCACCCCACACCA GCTTCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCCTACATG TCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACA CCCACCCCAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAAC CAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACA CGTCCACACAGACACCCACCCCACACCAGCCTCCTACACATCCACACAGA CACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAC ACCAGCTTCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCCTA CATGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACACA GACACCCACCCCAAACCAGCCTCCTGCACATCCACACAGACACAGACCCG AAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCC TACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACATCCACA CAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACC CCACACCAGCCTCCTACACATCCACACAGACACAGACCCGAAACCAGCTT CCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	294	0.0034	1071	c.503 others(1086): Show c.503+705_503+706insGGTGTCTGTGTGGACGTGTAGGAAGCTGGT TTCGGGTCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTG TCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTG TGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTG GATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGG TCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGG GGTGGGTTGTCTGTTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTC TGTGTGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGT AGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTG TGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTTGGGGTGGGTG TCTGTGTGGACATGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTG GTGTGGGTGGGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCT GTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC7_chr1_69562922_70149364	69916099	T T	TTATATAT others(1064): Show TTATATATAATATATATATTATATACATATTTTGTATATATAATATATAT TATATACATATTTTATATATATAATATATATATTATATACATATTTTATA TATATAATATATATATTATATACATATTTTATATATATAATATATATAAT ATACATATTTTATATATAATATATATTATATACATATTTTATATATATTA TATATTATATACATATTTTATATATATAATATATATATTATATACATATT TCATATATATAATATATATTATATACATATTTCATATATAATATATATAT TATATACATATTTTATATATTATATATTATATACATATTTTATATATTAT ATATATTATATACATATTTTATATATTATATATATTATATACATATTTTA TATATTATATACATATTTTATATATAATATATATAATATACATATTTTAT ATATATAATATATATAATATACATATTTTATATATATAATATATATAATA TACATATTTTATATATATAATATATATAATATACATATTTTATATATATA ATATATATAATATACATATTTTATATATATAATATATATAATATACATAT TTTATATATAATATATATAATATATATAATATACATATTTTATATATAAT ATATATAATATACATATTTTATATATATAATATATATAATATACATATTT TATATATATAATATATATAATATACATATTTTATATATAATATATATAAT ATACATATTTTATATATATAATATATATTATATACATATTTTATATATAT AATATATATTATATACATATTTTATATATATAATATATATTATATACATA TTTTATATATATAATATATATTATATACATATTTTATATATATAATATAT ATTATATACATATTTTATATATATAATATATATTATATACATATTTTATA TATATAATATATATTATATACATATTTTATATATATAATATATATTATAT ACATATTTTATATATATAATATATATTATATACATATTTTATATATATAA TATATATTATATACATATTTTA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02129.hp1 NA18977.hp2 HG01515.hp2 HG02129.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0006 a0001c0001t0021 a0001c0008t0024 a0001c0001t0006 a0001c0001t0021 a0001c0008t0024	a0001c0001t0006g0081 a0001c0001t0021g0003 a0001c0008t0024g0107 a0001c0001t0006g0081 a0001c0001t0021g0003 a0001c0008t0024g0107	3	108	0.0278	1071	c.648 others(1090): Show c.648-15376_648-15375insGTATATATAATATATATTATATACAT ATTTTATATATATAATATATATATTATATACATATTTTATATATATAATA TATATATTATATACATATTTTATATATATAATATATATAATATACATATT TTATATATAATATATATTATATACATATTTTATATATATTATATATTATA TACATATTTTATATATATAATATATATATTATATACATATTTCATATATA TAATATATATTATATACATATTTCATATATAATATATATATTATATACAT ATTTTATATATTATATATTATATACATATTTTATATATTATATATATTAT ATACATATTTTATATATTATATATATTATATACATATTTTATATATTATA TACATATTTTATATATAATATATATAATATACATATTTTATATATATAAT ATATATAATATACATATTTTATATATATAATATATATAATATACATATTT TATATATATAATATATATAATATACATATTTTATATATATAATATATATA ATATACATATTTTATATATATAATATATATAATATACATATTTTATATAT AATATATATAATATATATAATATACATATTTTATATATAATATATATAAT ATACATATTTTATATATATAATATATATAATATACATATTTTATATATAT AATATATATAATATACATATTTTATATATAATATATATAATATACATATT TTATATATATAATATATATTATATACATATTTTATATATATAATATATAT TATATACATATTTTATATATATAATATATATTATATACATATTTTATATA TATAATATATATTATATACATATTTTATATATATAATATATATTATATAC ATATTTTATATATATAATATATATTATATACATATTTTATATATATAATA TATATTATATACATATTTTATATATATAATATATATTATATACATATTTT ATATATATAATATATATTATATACATATTTTATATATATAATATATATTA TATACATATTTTATATATATAATATATATATTATATACATATTTT	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(1064): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGG AGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAG TGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGG GAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGT GGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGG GAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAG GGAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	272	0.0037	1071	c.250 others(1086): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCAT CCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCC CCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTC CCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTCCCTTC others(1064): Show CTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCC TTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTT CCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCTTCCTTCCCTTCCCTCCCTTCCTCCCTCCCTTCCTTTCCTTCCTT CCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCC TTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCT TCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCC CTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTC CCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCC CTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCT TTCCTTCCTTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0119 a0001c0001t0009g0119	1	178	0.0056	1071	c.773 others(1086): Show c.773+652_773+653insCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTCCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCCTCC CTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCC CTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCTTCCTTCCCTTCCCTCCCTTCCTCCCTCCCTTCC TTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTC CCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCT CCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCC TCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCT CCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(1064): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0131 a0001c0001t0012g0131	1	312	0.0032	1071	c.306 others(1090): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1064): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTTCCTCCATCTACTCA CCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATC ACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCCAC CCACCCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCA CCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCAATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAACC CATCCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCACCCA CCCACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCACCC ACCCATCTACCTTTCTCTCCACCTATTCACCCATCACCCACCCACCCATC TACCTTCCTCTCCATCTATTCAACTATCCACCCACCCACCCACCTATCCA CTTTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	370	0.0027	1071	c.438 others(1088): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTGG GTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGTG GGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTGG TGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATTGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGATGGG TGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTA GATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGTGAGTAGATGGAG GGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAG GTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGAT GGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGG GTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGT GGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGATGGG TGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTA GATGGAGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAG GGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAG GTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGAT GGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGG GTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
SAMD12_chr8_118372984_118626963	118469531	T T	TATGATAT others(1064): Show TATGATATATCATATATTATATTATATATTATATATGATATATCATATAT TATATTATATATTATATATGATATATCATATATTATATTATATATTATAT ATGATATATCATATATTATATTATATATTATATATGATATATCATATATT ATATTATATATTATATATGATATATCATATATTATATTATATATTATATA TGATATATCATATATTATATATATTATATATCATATATATTATATATTAT ATATCATATATAATATATATTATATATCATATATAATATATTATATATAT TATATATAATATATTATATATGATATATAATATATTATATATATTATATA TAATATATTATATATGATATATAATATATAATATATATGATATATAATAT ATAATATATATTATATATCATATATAATATATAATATATATTATATATCA TATATATTATATATTATATATCATATATCATATATCATATATAATATATA TTATATATCATATATATTATATATTATATATCATATATCATATATATTAT ATATTATATATCATATATCATATATCATATATATTATATATCATATATAA TATATATAATATATAATATATATCATATATAATATATAATATATATAATA TATAAATATAAATATATATTATATATTATATATAATATATAAATATATAT TTATAATATATAATATATATTTATATATTATATATAAATATATAAATATA TTTATATATTATATATAATATATAATATATATTATATATTTATATATAAT ATATAAATATATTTATATATTATATATTATATATAATATATATTATATAA TATATAATATATATTATATATAATATATAATATATAATATATATTATATA TTATATAATATATAATATATTATATATTATATAATATATAATATATTATA TATTATATAATATATAATATATTATATATTATATAATATATAATATATTA TATATTATATAATATATAATATATATATTTAATATATATTTTATATATAA ATTATATATTATATATATTTAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	188	0.0053	1071	c.193 others(1090): Show c.193-29571_193-29570insTTAAATATATATAATATATAATTTAT ATATAAAATATATATTAAATATATATATTATATATTATATAATATATAAT ATATTATATATTATATAATATATAATATATTATATATTATATAATATATA ATATATTATATATTATATAATATATAATATATTATATATTATATAATATA TAATATATATTATATATTATATATTATATATAATATATATTATATATTAT ATAATATATATTATATATAATATATAATATATAAATATATTTATATATTA TATATAAATATATAATATATATTATATATTATATATAATATATAAATATA TTTATATATTTATATATAATATATAAATATATATTATATATTATAAATAT ATATTTATATATTATATATAATATATAATATATATTTATATTTATATATT ATATATATTATATATTATATATGATATATATTATATATTATATATATTAT ATATGATATATAATATATATGATATATGATATATGATATATAATATATAA TATATATGATATATGATATATAATATATAATATATATGATATATAATATA TATTATATATGATATATGATATATGATATATAATATATAATATATATGAT ATATAATATATATTATATATTATATATGATATATAATATATATTATATAT TATATATCATATATATTATATATTATATATCATATATAATATATTATATA TAATATATATAATATATTATATATCATATATAATATATTATATATAATAT ATATAATATATTATATATGATATATAATATATATTATATATGATATATAA TATATAATATATATGATATATAATATATATAATATATGATATATCATATA TAATATATAATATAATATATGATATATCATATATAATATATAATATAATA TATGATATATCATATATAATATATAATATAATATATGATATATCATATAT AATATATAATATAATATATGATATATCATATATAATATATAATATAATAT ATGATATATCATATATAATATATAATATAATATATGATATATCAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SLC38A10_chr17_81239811_81300307	81249340	G G	GAGGATGA others(1064): Show GAGGATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGA AGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGAAGGGAGAAGGAGG GAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAG GAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGA GAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGA AGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGA GGGAGGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAG AGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGG GAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAG GAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGGAGGGAGGGAAGAGGAGGG AGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAG AAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGGAGGAGGAGGGAGAAG GAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGA GGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGG GAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGG AGAAAGAGGGAGGGAAGAGGAGGGAAAAGGAGGGAGGGAAGAGGAGGGAG GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGA GGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGG AAGAGGAAGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAA GAGGGAGGGAAGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0001 a0005c0025t0001	a0005c0025t0001g0042 a0005c0025t0001g0042	1	214	0.0047	1071	c.206 others(1090): Show c.2065+2152_2065+2153insTTTCCCTCCTCTTCCCTCCCTCTTTC TCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCTTCCTCTTCCCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTCTT CCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCC CTCCTCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCCT CCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCT TCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCCTCCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCC CTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCC TCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTC CTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTG CCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCCTCCCTCCT TCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCC TCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCC TCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCC TCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTC CTTCTCCCTTCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCCT TCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCATCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SNPH_chr20_1261294_1314327	1302498	A A	ATTTCTAA others(1064): Show ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTC AAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATC AATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGC CAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTC CCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCT CAAAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCAT CAATATTTCTATCACCTCAAAATAAACCCCATTCCCATAGCAATCACCGC CAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTC CCATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTTCTATCACCT CAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCAT CAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCG CCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATT CCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACC TCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCA TCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACC GCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCAT TCCCATTAGCAATCACCGCCAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0240 a0007c0012t0002g0240	1	350	0.0029	1071	c.440 others(1088): Show c.440+1920_440+1921insATTTCTAATTTCATCAATATTTCTATCA CCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTT CATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCA CCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCC ATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATC ACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATT TCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATC ACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCC CATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTTCTAT CACCTCAAAATAAACCCCATTCCCATAGCAATCACCGCCAATTTCTAATT TCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATC ACCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCC CATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTAT CACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAAT TTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAAT CACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACC CCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTA TCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAA TTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAA TCACCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAAC CCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCT ATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCA	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
THEG_chr19_356747_381026	376746	G G	GCCCCACC others(1064): Show GCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCC CGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCAC CCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0012 a0012	a0012c0034 a0012c0034	a0012c0034t0004 a0012c0034t0004	a0012c0034t0004g0256 a0012c0034t0004g0256	1	370	0.0027	1071	c.-77 others(1080): Show c.-777_-776insTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGG GGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGT GGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCT GGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGG GTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGG CTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		721		chr19	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(1064): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTG GGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGG GGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0407 a0003c0003t0001g0407	1	444	0.0023	1071	c.227 others(1090): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCT CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTC CTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TP53AIP1_chr11_128930370_128947871	128930549	A A	AGGAAGGC others(1064): Show AGGAAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTCAG GGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCA GGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGC TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTA GGGAGGCCAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCC GGGGTCAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCAGGGT TAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGG CCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCA GGGTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTA GGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGA GGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCA GGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAG GGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCCGGGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	466	0.0022	1071	c.50 others(1082): Show c.5041_*5042insCAACCCCGGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCC GGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCC CTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAA CCCTGGCCTCCCTAACCCCGGCCTCCCTGACCCCGGCCTCCCTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCT CCCTGACCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCC TGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCC CTAACCCCGGCCTCCCTGACCCCGGCCTCCCTGACCCCGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCAGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCT CCCTGACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTGACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTGACCCCGGCCTCCCTAACCCCTGGCCTCCCTAA CCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGT CTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4820		chr11	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(1065): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0131 a0001c0002t0007g0131	1	306	0.0033	1072	c.130 others(1091): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172068	G G	GGTGGGAT others(1065): Show GGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGGGTGGGTGGGATGGATAAATCAGTGGGTGGGATGCATAAATGAGT GGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGA TAAATGAATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGGG TGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGTGGG ATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTG GGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAAT GAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGG TGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGAATGGATAA ATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGG GTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATG AGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTG GGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGGGGGTGGGATGGAT GGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAAT CAGTGGGTGGGATGCATAAATGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0105 a0003c0007t0001g0105	1	357	0.0028	1072	c.278 others(1091): Show c.2787+1215_2787+1216insTCATTTATGCATCCCACCCACTGATT TATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATC CATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTAGCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCAT TTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCAT CCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCA CCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTA TCCATTCCACCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCC ACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCC ATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCC ATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACC CACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATT TATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATC CATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCAC CTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTA TCCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCCATCCC ACTCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCACCCACCC ATTTATCCATCCCACTCACTCATTTATGCATCCCACCCATTCATTTATCC ATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACT CATTTATGCATCCCACCCACTGATTTATCCATCCCACCCACCCATTTATC CATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATC CCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABR_chr17_998519_1184981	1119319	C C	CCCAGCGT others(1065): Show CCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCT GAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCC CTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAG CATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTT CCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAG CCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTA TCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCC CCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTG AGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCT GAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCCAGC GTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC CTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGC CTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAT CGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTTCCC AGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAG TTCCCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCG TTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCT CCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCC TGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCC CTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGC GTTAACCCTGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp2 HG03927.hp1 HG03017.hp1 HG03669.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0079 a0001c0001t0084 a0001c0001t0001 a0001c0001t0079 a0001c0001t0084	a0001c0001t0001g0214 a0001c0001t0079g0267 a0001c0001t0084g0330 a0001c0001t0001g0214 a0001c0001t0079g0267 a0001c0001t0084g0330	3	337	0.0089	1072	c.246 others(1089): Show c.246+5863_246+5864insAGGAACTCAGGCTCAGGGTTAACGCTGG GAGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATA ACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTC AGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAC TCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTG GGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGGGAACTCAG GCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGCTGGGAA GAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGCGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACT CAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGG GAGGGACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGA TAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGC TCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGA ACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTC GGGCTCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGGG AGGAACTCAGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATA ACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCT CAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ALDH16A1_chr19_49448225_49476050	49461541	G G	GGCGCCTG others(1065): Show GGCGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGG AGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGAGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGATTC CTGGGTCTGAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0048 a0002c0003t0001g0048	1	342	0.0029	1072	c.578 others(1085): Show c.578-77_578-76insCGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTC CTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGA GGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGAGCCTGGACTCCTGGGTCTGAGG GAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGT CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGG GCTGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49461541	G G	GGCGCCTG others(1065): Show GGCGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGG AGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGAGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGATTC CTGGGTCTGAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0050 a0002c0003t0001g0050	1	342	0.0029	1072	c.578 others(1085): Show c.578-77_578-76insCGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTC CTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGA GGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGAGCCTGGACTCCTGGGTCTGAGG GAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGT CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGG GCTGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1065): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGAGGGGATG GGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAGGG GGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGG GGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGG AAGGGGGAAGGGGGATGAGGAAGGGGAAGGGGGATGGGGAAGGGGGATAG GGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGGGGGAT GGGGAAGGGGGATGGGAAGGGGGATGGGGAAGGGGGGAAGGGGGATGGGG AAGGGGGATGGGGAAGAGGGAAGGTCGATGGGGAAGGGGGATGGGGAAGG GGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGG AAGGTCGATGGGGAAGGGGGATGGGAAGGGGAGGGGAAGGGTGGAAGGGG GATGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGATGG GGAAGGGGGATGGGGAAGGGGGCAGGGGGATGGGGAAGGGGGATGGGGAA GGGGGATGGGGAAGAGGAGATGGGGAAGGGGGGATGGGGAAGGGAGATGG GGAAGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGGGGAAGGGGGATGGG GAGGGGGAGGAGGAAGGGGGGAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	238	0.0042	1072	c.787 others(1087): Show c.787-617_787-616insATCCCCCCTTCCTCCTCCCCCTCCCCATCC CCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTC CCTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCA TCCCCCTTCCCCATCCCCCTGCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCTTCCTCATCCCCCTTCCCCCTTCCCCATC CCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCC CTCCCCTTCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTTCC CCACCCCATCCCCCTTCCCTATCCCCCTCCCCTCCCCCCTCCCCATCCCC TCCCCTCCCCCTTCCCCACCCCCATCCCCCTTCCCCATCCCCCTTCGCCT CCCCCTCCCCTCCACCTCCCCATCCCCTCCACCTCCCCATCCCCTCCACG TCCCCCTCCCCTCCAACCTCCCCCTCCCCTCCAACCTCCCCCTTCCCCTT CATCCTCTCCCTCTGTTTTCCCCCTTCCCCTTCATCCTCTTCCTCTGTTT TCCCCCTTCTCTTTCCCCTCCCCTTCCCCTCCCCTTTCTCCTCCCCTTCC ATTCCCGTTTCTCCTCCCTTTCCCCTCCCCTTTCCCCTCCCCTTCCCCTC CCCTTTTGCCTCCCATTTCCCCTCCCGTTTCCCCTCCCCTTTTTTCTCTC CCCTTTTTCCTCTCCTTTTTCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
CACNA1H_chr16_1148106_1226768	1185961	T T	TGCGTAGG others(1065): Show TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTA TGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19080.hp2 NA19000.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0097 a0001c0001 a0001c0097	a0001c0001t0015 a0001c0097t0001 a0001c0001t0015 a0001c0097t0001	a0001c0001t0015g0116 a0001c0097t0001g0077 a0001c0001t0015g0116 a0001c0097t0001g0077	2	338	0.0059	1072	c.300 others(1089): Show c.300-8843_300-8842insACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG TGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGT GTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185961	T T	TGCGTAGG others(1065): Show TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTA TGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03688.hp2 HG02735.hp1 HG03688.hp2	a0009 a0044 a0009 a0044	a0009c0073 a0044c0090 a0009c0073 a0044c0090	a0009c0073t0012 a0044c0090t0001 a0009c0073t0012 a0044c0090t0001	a0009c0073t0012g0074 a0044c0090t0001g0240 a0009c0073t0012g0074 a0044c0090t0001g0240	2	338	0.0059	1072	c.300 others(1089): Show c.300-8911_300-8910insGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGC CGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAG GGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186113	G G	GGGGCCGG others(1065): Show GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTA GGGGCGGAGGCGGGGTGTGTACGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGGCCGGGAGGCGGGGTGTGTACGGGGCAGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCGTCGCATAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGGTACGGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGCGGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	338	0.0030	1072	c.300 others(1089): Show c.300-8843_300-8842insACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCGGAGGCGGGGTGTGTACGGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGGCCGGGAGGCGGGGTGTGTACGGGGCAGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGTCGGCGTCGCATAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGGTACGGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTG TGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGCGGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC127_chr5_191868_223153	209326	C C	CCACACAC others(1065): Show CCACACACATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAAC AACCCTTCGCAGCCTGGCCACACACATCATTCCACAACACATAGGACTCC CCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCATTCC ACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTG GCCACACACATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAA CAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACACATAGGACTC CCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCATTC CACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCT GGCCACACACATCATTCCACAACACATAGGACTCCCCCACAAACACAGAA ACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACACATAGGACT CCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCATT CCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCC TGGCCACACACATCATTCCACAACACATAGGACTCCCCCACAAACACAGA AACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACACATAGGAC TCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCAT TCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGC CTGGTCACACACATCATTCCACAACACATAGGACTCCCCCACAAACACAG AAACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACACATAGGA CTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCA TTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAG CCTGGTCACACACATCATTCCACAACACATAGGACTCCCCCACAAACACA GAAACAACCCTTCGCAGCCTGGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0229 a0001c0002t0229	a0001c0002t0229g0293 a0001c0002t0229g0293	1	406	0.0025	1072	c.122 others(1089): Show c.122-3369_122-3368insACCAGGCTGCGAAGGGTTGTTTCTGTGT TTGTGGGGGAGTCCTATGTGTTGTGGAATGATGTGTGTGACCAGGCTGCG AAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGGAATGATG TGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTA TGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTG TTTGTGGGGGAGTCCTATGTGTTGTGGAATGATGTGTGTGACCAGGCTGC GAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGGAATGAT GTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCT ATGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGT GTTTGTGGGGGAGTCCTATGTGTTGTGGAATGATGTGTGTGGCCAGGCTG CGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGGAATGA TGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCC TATGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTG TGTTTGTGGGGGAGTCCTATGTGTTGTGGAATGATGTGTGTGGCCAGGCT GCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGGAATG ATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTC CTATGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCT GTGTTTGTGGGGGAGTCCTATGTGTTGTGGAATGATGTGTGTGGCCAGGC TGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGGAAT GATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGT CCTATGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTC TGTGTTTGTGGGGGAGTCCTATGTGTTGTGGAATGATGTGTGTG	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CDHR2_chr5_176544342_176600824	176591775	G G	GTTGTGAT others(1065): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0055 a0004c0055	a0004c0055t0001 a0004c0055t0001	a0004c0055t0001g0033 a0004c0055t0001g0033	1	344	0.0029	1072	c.373 others(1089): Show c.3734+292_3734+293insTGTGATGGTGATGGTGGTGATGATGGTG TTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATG GTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATG ATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTG ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065162	A A	ATAGTATT others(1065): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAA GAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0218 a0001c0020t0001g0218	1	334	0.0030	1072	c.-26 others(1083): Show c.-2646_-2645insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2297		chr11	TogoVar
CFAP74_chr1_1916957_2008786	1929391	A A	ACAGGTCT others(1065): Show ACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGAGATGGTG AGGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGTAGGGGAGGGAGGGGA GAGGGTAGGGGAGGGAGGGAGAGGAGGGGAGAGGGTAGGGAGGGAGAGGA GGGGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGAGGGAGGGG AGAGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGAAATGGTAT GGGAGGGAGGGAGGGGAGAGGGGTAGGGGAGAGAGGGAGCAGAGGGGAAA GGGTAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGAGGGAGGG GAGAGGGTAGGGGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGTAGGGGAG GGAAGGAGGGAGACGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGG GAGGAGGGAGGGAGGGAGGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAG GGTAGGGAGGGAGGGGAGGAGGGAAGAGGGTAGGGAGGGAGGGAGAGGAG AGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTGGGGAGGAGGGGAGAGG TTAGGGAGGGAGGGAGAGGAGGGGAGAGGGTAGGGGAGGGAAGGAGGGGA GAGGGTAGAGGAGGGAGGAGGGGAGAGGGGAGGGGAGGGAGGAAGAGGAG GGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGG GAGAGGGTAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAG AGGAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGG AGAGGAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAG GGAGAGAGGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGC AGGAGGGAGAGGGTAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGG AGGGGAGGAAGGGAGAGGGTAGGGAGGGGAGGAGGGGAGAGGGTAGGGAG GGAGGGAGAGGAGGGGAGAGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0058 a0058	a0058c0092 a0058c0092	a0058c0092t0001 a0058c0092t0001	a0058c0092t0001g0037 a0058c0092t0001g0037	1	278	0.0036	1072	c.328 others(1089): Show c.3289-510_3289-509insACCCTCTCCCCTCCTCTCCCTCCCTCCC TACCCTCTCCCCTCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCTC CCTACCCTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCTCCTGCCCT CCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTCCCTCCTCTCTCCCTCCC TCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTC CCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCC TCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTC CTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCT CTTCCTCCCTCCCCTCCCCTCTCCCCTCCTCCCTCCTCTACCCTCTCCCC TCCTTCCCTCCCCTACCCTCTCCCCTCCTCTCCCTCCCTCCCTAACCTCT CCCCTCCTCCCCACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCT CTCCCTCCCTCCCTACCCTCTTCCCTCCTCCCCTCCCTCCCTACCCTCTC CCCTCCTCCCCTCCCTCCCCTCTCCTCCTCCCTCCCTCCCTCCTCCCTAC CCTCTCCCCTCCTCTTCCTCCCTCCCCTACCGTCTCCCTCCTTCCCTCCC CTACCCTCTCCCCTCCCCTACCCTCTCCCCTCCCCCTACCCTCTCCCCTC CCTCCCTACCTCCCCTACCCTCTCCCTTCCTTCCCTCCCCTACCCTTTCC CCTCTGCTCCCTCTCTCCCCTACCCCTCTCCCCTCCCTCCCTCCCATACC ATTTCCCCTCCTTCCCTCCCCTACCCGCTCCCCTCCCTCCCCTCTCCCCT CCCTCCTCTTTCCTCTCCCCTCCCTGCGTCCCCTCCCTTCTCCCCTCCTC TCCCTCCCTACCCTCTCCCCTCCTCTCCCTCCCTCCCCTACCCTCTCCCC TCCCTCCCCTACCCTCCCTCCCCCACCCTCTCCCCTCCCTCCCCTCACCA TCTCCCTGCCTCCCCTCACCCTCTCTCCTGCCTCCCCAGACCTG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CNOT3_chr19_54132762_54160681	54133808	C C	CCACCTCC others(1065): Show CCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	223	0.0045	1072	c.-42 others(1083): Show c.-4236_-4235insCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3953		chr19	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1065): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGGTGCAGTTTATAGATAA TATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG CGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAG TTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATG GAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGG AGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATA GATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGG CGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGC AGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAA TATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0214 a0001c0019t0001g0214	1	272	0.0037	1072	c.109 others(1091): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGGTGCA GTTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATAT GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGT GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGG GCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAG GTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGG GTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAG ATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTG GGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCA GTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1065): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGGTGCAGTTTATAGATAATATGGGGG CGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAG TTTATAGATAATATGGAGGCGGGGCGGGGGGTACAGTTTATAGATAATAT GGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGG GAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTAT AGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGG GCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTG CAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATA ATATGGGGGTGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	272	0.0037	1072	c.109 others(1091): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGGTGCAGTTTATAG ATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGG GCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGGTACAGTT TATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGA GGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGG GGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATA GATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGT GGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGC AGTTTATAGATAATATGGGGGTGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1065): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGGCGGGGCGGGGGTGCAGTTTA TAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG CGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAG TTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATG GAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGG AGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATA GATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGG CGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGC AGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAA TATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0168 a0001c0002t0013g0168	1	272	0.0037	1072	c.109 others(1091): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATAT GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGT GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGG GCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAG GTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGG GTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAG ATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTG GGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCA GTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1065): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAG TTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATG GAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGG AGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATA GATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGG CGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGC AGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAA TATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0112 a0001c0012t0004g0112	1	272	0.0037	1072	c.109 others(1091): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGG GCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAG GTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGG GTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAG ATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTG GGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCA GTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK3_chr19_3953453_3976099	3973097	T T	TGCCTGTA others(1065): Show TGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGAGCCACTGCACTCCAG CCTGGGTGACAGAGCAAAGACTGTCTCAAAAAAAAAAAAAAATTCAGCTT CCACATACCATCTTAACGTTTGCACTACTAAAAAAGAATAGGACCCGGTA TGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCTG ATCTCTTACGGTCGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCC ATCTCACCTAAATATACAAAAATTACACAGACCTGGTGATAGGCGCCTGT AATTCCAGCTACTCGGGAGGCTGAAGCACAAGAATTGCTTGAGCACTTGA ATCCGGAGGCAGAGGCTATAGTGAGCCAAGATCACAACACTGCACTCCAT CCTGGGCGATAGAGTGAGATTCTCGAAACACAGTAATCCGTTACCCTGAC TGCTGGAAACAGCGTCAGTTACAGCCCCAATTCAAATGCGACAGCCAAAC CAAACCTCAGGCATACCTACATGTGGGCAAAACCTCAGCTGAGGCTTGGC CTTGACAATGCAGGGCCAGAGCTGCCCCCGCCTTTGCCGAGAACCCCACA GCCCTACTTCACAGTCCCCACCTGCCTTCCTGAGGACAGAGTAAAAGGCG GAAAATGATCATGTTAACCTTATCAGCACTGACAAGATTAGGCCTCCTCA CATCTTAGGCACTATTTAGAAAAACAAATAGTTTTCTAAGCTATTGGCGC TCACACCTGAAATCCCAGCACTTTGGGAGGCTGAGGCAGAAGGATCGCTT GAGCCCGGGAAGGAGACCAGCCTGAGCAACATAGTGAGACCCCATTACTA CAAAAAAAGTAAAAATTAGGTCAGCACAGTGGCTCACGCCTATAATTCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGA CTATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAATAAATACAAAAA ATTAGCCGGGCATGGTGGCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03688.hp2 HG03654.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0035 a0001c0001t0003g0003 a0001c0001t0003g0035	2	364	0.0055	1072	c.-22 others(1083): Show c.-2272_-2271insGCCCGCCACCATGCCCGGCTAATTTTTTGTATTT ATTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATAGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAATTATAG GCGTGAGCCACTGTGCTGACCTAATTTTTACTTTTTTTGTAGTAATGGGG TCTCACTATGTTGCTCAGGCTGGTCTCCTTCCCGGGCTCAAGCGATCCTT CTGCCTCAGCCTCCCAAAGTGCTGGGATTTCAGGTGTGAGCGCCAATAGC TTAGAAAACTATTTGTTTTTCTAAATAGTGCCTAAGATGTGAGGAGGCCT AATCTTGTCAGTGCTGATAAGGTTAACATGATCATTTTCCGCCTTTTACT CTGTCCTCAGGAAGGCAGGTGGGGACTGTGAAGTAGGGCTGTGGGGTTCT CGGCAAAGGCGGGGGCAGCTCTGGCCCTGCATTGTCAAGGCCAAGCCTCA GCTGAGGTTTTGCCCACATGTAGGTATGCCTGAGGTTTGGTTTGGCTGTC GCATTTGAATTGGGGCTGTAACTGACGCTGTTTCCAGCAGTCAGGGTAAC GGATTACTGTGTTTCGAGAATCTCACTCTATCGCCCAGGATGGAGTGCAG TGTTGTGATCTTGGCTCACTATAGCCTCTGCCTCCGGATTCAAGTGCTCA AGCAATTCTTGTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTA TCACCAGGTCTGTGTAATTTTTGTATATTTAGGTGAGATGGGGTTTCACC ATGTTGGCCAGGCTGGTCTCAAGCTCGACCGTAAGAGATCAGCCCGCCTC AGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCACCATACCGGGTCCT ATTCTTTTTTAGTAGTGCAAACGTTAAGATGGTATGTGGAAGCTGAATTT TTTTTTTTTTTTGAGACAGTCTTTGCTCTGTCACCCAGGCTGGAGTGCAG TGGCTCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		1999		chr19	TogoVar
DNAJC4_chr11_64225548_64239281	64237115	G G	GGGAGAGG others(1065): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGACAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	1072	c.29 others(1083): Show c.2931_*2932insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACAGAC	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2835		chr11	TogoVar
EEF2_chr19_3971056_3990463	3973097	T T	TGCCTGTA others(1065): Show TGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGAGCCACTGCACTCCAG CCTGGGTGACAGAGCAAAGACTGTCTCAAAAAAAAAAAAAAATTCAGCTT CCACATACCATCTTAACGTTTGCACTACTAAAAAAGAATAGGACCCGGTA TGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCTG ATCTCTTACGGTCGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCC ATCTCACCTAAATATACAAAAATTACACAGACCTGGTGATAGGCGCCTGT AATTCCAGCTACTCGGGAGGCTGAAGCACAAGAATTGCTTGAGCACTTGA ATCCGGAGGCAGAGGCTATAGTGAGCCAAGATCACAACACTGCACTCCAT CCTGGGCGATAGAGTGAGATTCTCGAAACACAGTAATCCGTTACCCTGAC TGCTGGAAACAGCGTCAGTTACAGCCCCAATTCAAATGCGACAGCCAAAC CAAACCTCAGGCATACCTACATGTGGGCAAAACCTCAGCTGAGGCTTGGC CTTGACAATGCAGGGCCAGAGCTGCCCCCGCCTTTGCCGAGAACCCCACA GCCCTACTTCACAGTCCCCACCTGCCTTCCTGAGGACAGAGTAAAAGGCG GAAAATGATCATGTTAACCTTATCAGCACTGACAAGATTAGGCCTCCTCA CATCTTAGGCACTATTTAGAAAAACAAATAGTTTTCTAAGCTATTGGCGC TCACACCTGAAATCCCAGCACTTTGGGAGGCTGAGGCAGAAGGATCGCTT GAGCCCGGGAAGGAGACCAGCCTGAGCAACATAGTGAGACCCCATTACTA CAAAAAAAGTAAAAATTAGGTCAGCACAGTGGCTCACGCCTATAATTCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGA CTATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAATAAATACAAAAA ATTAGCCGGGCATGGTGGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03688.hp1 HG03654.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0065 a0001c0003t0001g0015 a0001c0003t0001g0065	2	403	0.0050	1072	c.34 others(1083): Show c.3456_*3457insGCCCGCCACCATGCCCGGCTAATTTTTTGTATTT ATTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATAGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAATTATAG GCGTGAGCCACTGTGCTGACCTAATTTTTACTTTTTTTGTAGTAATGGGG TCTCACTATGTTGCTCAGGCTGGTCTCCTTCCCGGGCTCAAGCGATCCTT CTGCCTCAGCCTCCCAAAGTGCTGGGATTTCAGGTGTGAGCGCCAATAGC TTAGAAAACTATTTGTTTTTCTAAATAGTGCCTAAGATGTGAGGAGGCCT AATCTTGTCAGTGCTGATAAGGTTAACATGATCATTTTCCGCCTTTTACT CTGTCCTCAGGAAGGCAGGTGGGGACTGTGAAGTAGGGCTGTGGGGTTCT CGGCAAAGGCGGGGGCAGCTCTGGCCCTGCATTGTCAAGGCCAAGCCTCA GCTGAGGTTTTGCCCACATGTAGGTATGCCTGAGGTTTGGTTTGGCTGTC GCATTTGAATTGGGGCTGTAACTGACGCTGTTTCCAGCAGTCAGGGTAAC GGATTACTGTGTTTCGAGAATCTCACTCTATCGCCCAGGATGGAGTGCAG TGTTGTGATCTTGGCTCACTATAGCCTCTGCCTCCGGATTCAAGTGCTCA AGCAATTCTTGTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTA TCACCAGGTCTGTGTAATTTTTGTATATTTAGGTGAGATGGGGTTTCACC ATGTTGGCCAGGCTGGTCTCAAGCTCGACCGTAAGAGATCAGCCCGCCTC AGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCACCATACCGGGTCCT ATTCTTTTTTAGTAGTGCAAACGTTAAGATGGTATGTGGAAGCTGAATTT TTTTTTTTTTTTGAGACAGTCTTTGCTCTGTCACCCAGGCTGGAGTGCAG TGGCTCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGC	EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding		2958		chr19	TogoVar
FOXK2_chr17_82514732_82609602	82586209	A A	AGGGGAAA others(1065): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCAGTGGGG GAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCAGTGGGGG AATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGTGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTCAAAGGTAGGCAGTGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTCAAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTCAAAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTCAAAGGTAGGCGGAGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCGGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	308	0.0033	1072	c.157 others(1087): Show c.1576+54_1576+55insGGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTAGGCAGTGGGGGAATGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTAGGCAGTGGGGGAATGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTA GGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAG GCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GPRIN1_chr5_176590802_176615156	176591775	G G	GTTGTGAT others(1065): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0075 a0004c0005t0001g0075	1	397	0.0025	1072	c.50 others(1083): Show c.5032_*5033insTCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTC AACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCAC AACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAA CACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACAC CAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAA CACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCT CAACACCAACACCATCATCACCACCATCACCATCACAA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4026		chr5	TogoVar
KIF25_chr6_167992671_168050091	167997234	G G	GGGGCGGG others(1065): Show GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCG GGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGG AATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTG CAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGTCGGGGGAATGTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGTGGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAGAGATGGG GGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0019	a0001c0006t0019g0139 a0001c0006t0019g0139	1	375	0.0027	1072	c.-22 others(1083): Show c.-2235_-2234insGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGC AGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGTCGGGGGAATCTGCAG AGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAG ATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGG GGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATGTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGTCGGGGGA ATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		436		chr6	TogoVar
LMF1_chr16_848634_975984	859954	G G	GAGTGGTG others(1065): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGG TGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTG TCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAGTGGTGTCTC GAGACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGCACTGATGTCACGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGCAGTGGTCTCGGGACAGGTGTGCAGTGGTGTCTCGGGATGGGTGTGA CTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGGTGT CACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCG GGATGGTTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGCA TGGGTGTGCAGTGGTGTCTCGGCATGGGTGTGAGTGGTGTCTCGGGATGG GTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTTACGGGATGGGTGT GAGTGGTGTCACGGGATGCGTGTGAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTC ATGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGATGTCACGG GATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGCAGTGAGGTCACGGGATGGGTGTGTGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG CAGTGGTGTCTCGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0092 a0001c0006t0001g0092	1	294	0.0034	1072	c.153 others(1091): Show c.1530-5249_1530-5248insACACCCATCCCGAGACACCACTGCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACTCACACC CATCCCGAGACACCACACACACCCATCCCGTGACCTCACTGCACACCCAT CCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCG TGACATCACTGCACACCCATCCCGAGACACCACTCACACCCATCCATGAC ACCACTGCACACCCATCCCGTGACACCACTCACACCCATCCCGTGACACC ACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTG CACACCCATCCCGAGACACCACTCACACGCATCCCGTGACACCACTCACA CCCATCCCGTAACACCACTCACACCCATCCCGAGACACCACTCACACCCA TCCCGAGACACCACTCACACCCATGCCGAGACACCACTGCACACCCATGC CGAGACACCACTCACACCCATCCCGAGACACCACTGCACAACCATCCCGA GACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGTGACA CCACTGCACACCCATCCCGTGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAGTCA CACCCATCCCGAGACACCACTGCACACCTGTCCCGAGACCACTGCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG TGACATCAGTGCACACCCGTCCCGAGACATCACTGCACACCCGTCTCGAG ACACCACTCACACCCGTCCCGTGACATCACTCACACCCGTCCCGTGACAC CACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MPPED1_chr22_43407014_43512848	43432638	A A	AGAAAGGG others(1065): Show AGAAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA TAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAG AGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAT AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	250	0.0040	1072	c.225 others(1089): Show c.225-2394_225-2393insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAT AAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25820045	G G	GAACTGTT others(1065): Show GAACTGTTATCATCACCATCACCATCATCATCACCACCACATCATCATCA TCACCATCAGCACCATCATATTGCCACCACTATCACCATCATCATCACTA CCATCACCATCACCACCATCATCACCACCACCATCACCATCACCACCATC ATATCACCACCACCACCATCATCACCATCACTATCATCATCATCATTATC ACCATCATCATCACCATCATCACCACCATCACCATCATCACCATCATCAT CACCATCATCGCCATCACCACCATCATCATCATCACCATCGCCACCATCA TCACCATCATCGCCATCACCACCATCATCACCATCACTATCATCATCATC ACCATTATCACCACCATCATCACCATCATCACCACCATCATCATCATCAT CATCACACCATCATCACCACCACCATCACCATCATCACCATCATCATCAT CACCACCATCACCATCATCATCACCATCATCACCATCACCACCACCATCA CCACCATCATCACCCCATCATCATCACAACCACCACCATCATACCCTCAT CATCACCATCATCACCACCATCACTATCACCACCATCATCATCACCACCA TCACCATCATCATACCGTCATCAGCACCATCACCATCATCACACCACCAC CATCACCATCATCATCACCATCATCATCACACCATCATCACCACCATCAC CATCATCATCACACCATCACCACCACCATCACCACCACCATCACCATCAT CACCATCACCATCATCATCACCATCACCCCATCATCACCATCATCATCAT CATCATCACCATCACCCCATCATCACCATCATCATCACCATCACCCCATC ATCACCATCATCATCATCATCATCACCATCACCACCACCATCATCACCAT CATCATCATCATCACACCATCACCCCATCATCACCACCATCACCCCATCA TCACCATCATCATCATCATCACCATCACCCCATCATCACCATCATCACCA TCACCATCACCCTATCATCACCATCATCATCATCATCACCATCACCACCA CCATCATCACCATCATCATCATC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	228	0.0044	1072	c.252 others(1091): Show c.2522-3459_2522-3458insACTGTTATCATCACCATCACCATCAT CATCACCACCACATCATCATCATCACCATCAGCACCATCATATTGCCACC ACTATCACCATCATCATCACTACCATCACCATCACCACCATCATCACCAC CACCATCACCATCACCACCATCATATCACCACCACCACCATCATCACCAT CACTATCATCATCATCATTATCACCATCATCATCACCATCATCACCACCA TCACCATCATCACCATCATCATCACCATCATCGCCATCACCACCATCATC ATCATCACCATCGCCACCATCATCACCATCATCGCCATCACCACCATCAT CACCATCACTATCATCATCATCACCATTATCACCACCATCATCACCATCA TCACCACCATCATCATCATCATCATCACACCATCATCACCACCACCATCA CCATCATCACCATCATCATCATCACCACCATCACCATCATCATCACCATC ATCACCATCACCACCACCATCACCACCATCATCACCCCATCATCATCACA ACCACCACCATCATACCCTCATCATCACCATCATCACCACCATCACTATC ACCACCATCATCATCACCACCATCACCATCATCATACCGTCATCAGCACC ATCACCATCATCACACCACCACCATCACCATCATCATCACCATCATCATC ACACCATCATCACCACCATCACCATCATCATCACACCATCACCACCACCA TCACCACCACCATCACCATCATCACCATCACCATCATCATCACCATCACC CCATCATCACCATCATCATCATCATCATCACCATCACCCCATCATCACCA TCATCATCACCATCACCCCATCATCACCATCATCATCATCATCATCACCA TCACCACCACCATCATCACCATCATCATCATCATCACACCATCACCCCAT CATCACCACCATCACCCCATCATCACCATCATCATCATCATCACCATCAC CCCATCATCACCATCATCACCATCACCATCACCCTATCATCACCATCATC ATCATCATCACCATCACCACCACCATCATCACCATCATCATCATCA	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO7A_chr11_77123246_77220241	77192915	G G	GGTAGTTG others(1065): Show GGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAG GTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGATGGT GGGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGT GATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGT TGGTGATGGTGGAGGTAGTGATGGTGTTGGTGTTGGTGGAGGTAGTGATG GTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGAT GGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGG AGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTG ATGGTGGAGGTGGTGATGGTGTTGATGGTGGGGAGGTAGTGATGGTGTTG GTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGT GTTGGTGATGGTGGAGGTAGTGATGCTGTTGGTGATCGTGGAGGTAGCGA TGGTGTTGGTGATGGTGGAGGTAGTGATGCTGTTGGTGATCGTGGAGGTA GTGATGGTGTTGTTGGTGATGGTGGAGGTGGTGTTGGTGTTGGTGATGGT GGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAC TGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTG GAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGG AGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGATG GTGGGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTG GTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGT GTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGTTGGTGGAGGTAGTGA TGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTG ATGGTGTTGTTTGTGATGGTGGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0126	1	356	0.0028	1072	c.415 others(1089): Show c.4152+638_4152+639insTAGTTGTTTGTGATGGTGGAGGTAGTGA TGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAG GTGGTGATGGTGTTGATGGTGGGGAGGTAGTGATGGTGTTGGTGATGGTG GAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGAT GGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGG TGTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTG GTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGAT GGTGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGG TAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGATGGTG GGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTG ATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGCTGTT GGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGC TGTTGGTGATCGTGGAGGTAGTGATGGTGTTGTTGGTGATGGTGGAGGTG GTGTTGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGA GGTAGTGATGGTGTTGGTACTGATGATGGTGGTGATGGTGGAGGAGGTAG TGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGT GATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGG AGGTGGTGATGGTGTTGATGGTGGGGAGGTAGTGATGGTGTTGGTGATGG TGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTG ATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTT GGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGT TGGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(1065): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGATGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAG GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAG ACGGGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAAAGA GGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAG GAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGAT GGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAG AGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGGGGGGAAGATGGGAGGAG GAGAGGAAAGGGGGGAAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATG GGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGA GGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACAGGAGGAGAGGA AAGAGGGGGAAGACGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGA GGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGA AGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGAGGGGGAGGAGAGG AAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGGAAGACGGGAGG AGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGAA GATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGAGGGGGAGGAGAGGA AAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGGAAGACGGGAGGA GGAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGG AAGATGGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18994.hp1 NA18973.hp1 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0003 a0001c0001t0001 a0002c0010t0003	a0001c0001t0001g0268 a0002c0010t0003g0235 a0001c0001t0001g0268 a0002c0010t0003g0235	2	326	0.0061	1072	c.162 others(1091): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCT CCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCCT CTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTCC CCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTCC TCTCCTCCTGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCT TTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCAT CTTCCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTC CTCCCATCTTCCCCCCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTT TCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATC TTCCCCCTCTTTTCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTC CTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCT TTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTT CCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTC CTCTCCTTCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTCCC CCCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCC CATCTTCCCCCTCCTTCCTCTCCTCCCCTTCCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
OSTF1_chr9_75083514_75152265	75139041	T T	TTCTTTTC others(1065): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	366	0.0027	1072	c.487 others(1089): Show c.487+1425_487+1426insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9			chr9	TogoVar
PRPF31_chr19_54110754_54136713	54133808	C C	CCACCTCC others(1065): Show CCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	227	0.0044	1072	c.23 others(1083): Show c.2376_*2377insCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2096		chr19	TogoVar
RIN3_chr14_92508781_92693994	92547356	T T	TATTATAA others(1065): Show TATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTT TATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAA ATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATATTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAAT TATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATA AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATA AATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTAT CTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTA TTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAA AATAAATTATCTTTTATTATAAAATAAATTATCTTTATTTTATAATTATA AAATAAATTATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAAT TATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAAT TATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAAT TATAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTAT TATAATAAATTATCTTTATTACA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0317 a0007c0007t0001g0317	1	334	0.0030	1072	c.45- others(1087): Show c.45-8393_45-8392insTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAA ATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATATTATT ATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTT ATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTT ATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATA AAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAA ATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATC TTTATTTTATAATTATAAAATAAATTATCTTTATTTTATAATTATAAAAT AATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAAT AATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAAT AATCTTTATTTTATAATTATAAAATAATCTTTATTTTATTATTATAAAAT AATCTTTATTTTATTATTATAATAAATTATCTTTATTACAAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	257762	T T	TATGACTA others(1065): Show TATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTCTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGTCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTA GGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCT GTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGG GGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCT ACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCCTTTTCCGTCCCT AGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTC TGTCCTTTTCCATCCCTAGGAAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	133	0.0075	1072	c.439 others(1091): Show c.439-10478_439-10477insGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGG GACGGAAAAGGACAGACGCCGTGCGACTCCCCTCATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAG GGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAG GGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGACTCCCC TCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTA GGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTA GGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCAGCTCCC CTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACA GACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCT AGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGT AGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCC CCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGAC AGACGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCC TAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACG TAGGGTAGTCACATTCCTAGGGATGGAAAAGGAGAGACGCCGTGCGGCTC CCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGA CAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SLC38A10_chr17_81239811_81300307	81249433	G G	GGGAGGGA others(1065): Show GGGAGGGAAGAGGAGGGAGAAGGAGGGATGGAGAAGGAGGGAGGGAAGAG GAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGA GGGAGAAGGAGGGAGAAGGAGGGAGGAGGAGGGAGGGAAGAGGAGGGAGA AGGAGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGG AGGAGGGAGGAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGAAGGAGG GAGGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAG GAGGGAGGGAAGAGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGG AAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGG AGGGAGGGAAGAGGAGGGAGAAGGGGGGAGGCAAGAGGAGGGAGAAGGAG GGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGTAGGG AGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGGAGGAGGAGGGAGA AGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAG GAGGGAGGGAAGAGGAAGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGG AGGGAGAAAGAGGGAGGGAAGAGGAGGGAAAAGGAGGGAGGGAAGAGGAG GGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGG AGAAAGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGCAAGAGGAGGGAGAAGTAGGGAGAAGGAGGGAGAAGGAG GGAGAAGGGAGGAGGAGGGAGAAGGAGGGAGAAGGGAGGAGGAGGGAGAA GGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAG GGAGGGAGAAGGAAGGAGGGAAGAGGGAGAAGAGAGGAGGGAGAAAGAGG GAGGCAAGAGGAGGGAGGAGAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0209 a0001c0003t0015g0209	1	214	0.0047	1072	c.206 others(1091): Show c.2065+2059_2065+2060insTCTCTCCTCCCTCCTCTTGCCTCCCT CTTTCTCCCTCCTCTCTTCTCCCTCTTCCCTCCTTCCTTCTCCCTCCCTC CTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCT TCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCCTCCCTTCTCCCTCCTTCTCCCTCCTCCTCCCTTCTCCCTC CTTCTCCCTCCTTCTCCCTACTTCTCCCTCCTCTTGCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCTTTCTCCC TCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTC CTCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCT CTTCCCTCCCTCCTCCCTCCCTCCTTCTCCTTCCTCTTCCCTCCCTCCTT CTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCT CCCTCCTCCTCCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCC TACTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCTTGCCTCCCCCCTTCTCCCTCCTCTTCCCTCCCTCCT TCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCC TCCTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCTCTTCCCTCCCTCCTT CTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCCTCCCT CCTTCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTCCTCCCTCCTCCT CCCTCCTTCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTCCTCCCTCCTTCTCCCTCCTTCTCCCTCC TCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTC TTCCCTCCCTCCTTCTCCATCCCTCCTTCTCCCTCCTCTTCCCTCC	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar

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