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
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(1137): Show TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG03491.hp1 others(1): Show HG02280.hp2 HG02615.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0219 a0001c0001t0004g0175 a0001c0001t0008g0006 a0001c0001t0001g0219 a0001c0001t0004g0175 a0001c0001t0008g0006	4	296	0.0135	1144	c.368 others(1161): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTA GTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGG TATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGG CCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT AAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAG GTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATG TAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCG GGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTA GTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGG TATGTAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
NOC4L_chr12_132139457_132157468	132150453	C C	CACCACAC others(1137): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	294	0.0034	1144	c.902 others(1159): Show c.902-485_902-484insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIEZO1_chr16_88710338_88790220	88713126	T T	TGAGAGCC others(1137): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCTGAGAGCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0195 a0002c0006t0001g0195	1	282	0.0036	1144	c.24 others(1155): Show c.2478_*2479insGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTC AGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGTATGAGTGGGGGTCAGGGC CCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGA AGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG GGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCC CGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAA GGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGC TCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGG GGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGACCC GGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCT CAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGG GTCAGGGCCCGGGGAAGGGGGCTCTCGGGGGCATGAGTGGGGGTCAGGGC CCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGGCTCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2211		chr16	TogoVar
PRDM16_chr1_3064203_3443621	3163129	G G	GCGCAGAA others(1137): Show GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAA GCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCC CTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGG CATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCA TGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATG GTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTCTAGAG GGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGG CTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCT TTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTT GGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGG GAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGA GAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGG GGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGG ATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGAT GTCCGCAGAAGCCCCTGGCGTGGTCTAGAGGGCTTTGGGAGAGGGGATGT CCGCAGAAGCCCCTGGCGTGGTCTAGAGGGCTTTGGGAGAGGGGATGTCC GCAGAAGCCCCTGGCGTGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGC AGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0042 a0001c0001t0046g0042	1	210	0.0048	1144	c.38- others(1161): Show c.38-22936_38-22935insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTG CGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCG CAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCA GAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGA AGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAG CCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCC CCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCC CGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCAT GGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGG TCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTC TAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTA GAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGA GGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGG GCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGC TTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTT TGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTG GGAGAGGGGATGTCCGCAGAAGCCCCTGGCGTGGTCTAGAGGGCTTTGGG AGAGGGGATGTCCGCAGAAGCCCCTGGCGTGGTCTAGAGGGCTTTGGGAG AGGGGATGTCCGCAGAAGCCCCTGGCGTGGTCTAGAGGGCTTTGGGAGAG GGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGG GATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGA TGTGCGCAGAAGCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RUSC2_chr9_35485111_35566895	35495152	C C	CTATAGTA others(1137): Show CTATAGTATATATAATATATATTTTATATATTATACTATAGTATATATAA TATATATTTTATATATTATACTATAGTATATATAATATATATTTTATATA TTATATATACTATAGTATATATAATATATATTTTATATATTATATATACT ATATATACTATAGTATTATATATACTATTATATATACTGTATATACTATT ATATAGTATATATAATAGTATATATTATACATTATATACTATATATTATA TATACTATTATATATATTATATATTATATATACTATTATATATACTATAG TATATATAATATATATTATATATACTATATATTTTATATATTATATTTTA TATATAATATAATATATTTTATATATATTTTATATATAATATAATATATT TTATATAATATATTATATATTATATAATATATTTTATATAATATATTATA TATTATATATAATATTTTATTATGTAATATATAATATATATTTTATATAT TATATATATTTTATTATATAATATATTTATATATAATATATATTTTATAT ATAATATAATATATTTTATTTTATATAATGTATTATATAATATATAATAT ATAACATATTTTATTATATATTATATAATAATATATAACATATTATATAT TATATAATAATATATAACATATTTTATTATATAATATATAATATATTATA TAATATATATTTTATTGTATATAATATATTTTATTGTATATTATATATAA TATATTTTATTGTATATTATATATAATATATTTTATTGTATATTATATAT AATATATTTTATTATATAATTTATTATAATATATATATTTTATAATATAT ATAATATATTTTATTATTATATATTTTATTATAATATATACAATATATTT TATTATAATATATAATATATTTTATAATATATATATTTTATTATAATATA TATATTTTATAATATATATATTTTATAATATATATATTTTATTATAATAT ATATTTTATTATATATAATATATTTTATAATATATATAATATATTTTATT AAATATATATAATATATTTTATTAAATATATATAATATATTTTATTAAAT ATATATAATATATTTTATTAAATATATATAATATATTTTATTAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0022 a0001c0001t0003g0023	2	322	0.0062	1144	c.-93 others(1161): Show c.-93+4984_-93+4985insGTATATATAATATATATTTTATATATTA TACTATAGTATATATAATATATATTTTATATATTATACTATAGTATATAT AATATATATTTTATATATTATATATACTATAGTATATATAATATATATTT TATATATTATATATACTATATATACTATAGTATTATATATACTATTATAT ATACTGTATATACTATTATATAGTATATATAATAGTATATATTATACATT ATATACTATATATTATATATACTATTATATATATTATATATTATATATAC TATTATATATACTATAGTATATATAATATATATTATATATACTATATATT TTATATATTATATTTTATATATAATATAATATATTTTATATATATTTTAT ATATAATATAATATATTTTATATAATATATTATATATTATATAATATATT TTATATAATATATTATATATTATATATAATATTTTATTATGTAATATATA ATATATATTTTATATATTATATATATTTTATTATATAATATATTTATATA TAATATATATTTTATATATAATATAATATATTTTATTTTATATAATGTAT TATATAATATATAATATATAACATATTTTATTATATATTATATAATAATA TATAACATATTATATATTATATAATAATATATAACATATTTTATTATATA ATATATAATATATTATATAATATATATTTTATTGTATATAATATATTTTA TTGTATATTATATATAATATATTTTATTGTATATTATATATAATATATTT TATTGTATATTATATATAATATATTTTATTATATAATTTATTATAATATA TATATTTTATAATATATATAATATATTTTATTATTATATATTTTATTATA ATATATACAATATATTTTATTATAATATATAATATATTTTATAATATATA TATTTTATTATAATATATATATTTTATAATATATATATTTTATAATATAT ATATTTTATTATAATATATATTTTATTATATATAATATATTTTATAATAT ATATAATATATTTTATTAAATATATATAATATATTTTATTAAATATATAT AATATATTTTATTAAATATATATAATATATTTTATTAAATATATATAATA TATTTTATTAAATATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC38A10_chr17_81239811_81300307	81249456	G G	GAGGAGGG others(1137): Show GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGA GGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGG AGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGG AGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAG GAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGA GGCAAGAGGAGGGAGAAGGAGGGAGGGAAAGAGGAGGGAGAAGGAGGGAG AAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAG GGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGC AAGAGGAGGGAGAAGGAGGGAGGAAGAGGAGGGAGAAGGAGGGAGGAGGA GGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGG GAGAAGGAGGGAAGAGGAGGGAGAAGGGGAGGGAGAAGGAGGAGGAGGGA GAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGA AGGAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAG GAGGGAGAAAGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGAAGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAAGG AGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGA AGAGGAGGGAAAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAG AGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAG GAGGGAGAAGGAGGGAGGGAGAAGGAAGGAGGGAAGAGGGAGAAGAGAGG AGGGAGAAAGAGGGAGGCAAGAGGAGGGAGGAGAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0167 a0001c0007t0005g0167	1	214	0.0047	1144	c.206 others(1163): Show c.2065+2036_2065+2037insTCTCCCTCCTCTCTCCTCCCTCCTCT TGCCTCCCTCTTTCTCCCTCCTCTCTTCTCCCTCTTCCCTCCTTCCTTCT CCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCC CTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCT CCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCC CTCCTCCCTCCCTCCTTCTCCTTCCTCTTCCCTCCCTCCTTCTCCCTCCT CTTCCCTCCCTCCTTCTCCCTCCTCTTCCTCCCTCCTTCTCCCTCCTCTT CCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCTTCTCCCTCCCCTTCTCC CTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTC TTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCCTCTTCCTC CCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTGCCTCCC TCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTTCCCTCCCT CCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCC CTCCTTCTCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTC CCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCT CTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCT TCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTC CCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCC TCCCTCCTTCTCCCTCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SPTLC3_chr20_13003972_13174103	13065907	T T	TCTTCCTT others(1137): Show TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT CCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGT TTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTT CCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(49): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01975.hp2 HG02080.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02602.hp1 HG03239.hp2 HG03654.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0008 a0001c0001 a0001c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0039 a0001c0001t0050 a0001c0001t0053 a0001c0003t0005 a0001c0003t0006 a0001c0003t0028 a0001c0003t0041 a0001c0003t0049 a0004c0008t0005	a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(49): Show a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0003g0076 a0001c0001t0003g0113 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0004g0247 a0001c0001t0005g0092 a0001c0001t0005g0128 a0001c0001t0008g0005 a0001c0001t0008g0013 a0001c0001t0009g0148 a0001c0001t0014g0116 a0001c0001t0014g0120 a0001c0001t0014g0146 a0001c0001t0016g0136 a0001c0001t0018g0104 a0001c0001t0019g0119 a0001c0001t0022g0129 a0001c0001t0022g0130 a0001c0001t0039g0121 a0001c0001t0050g0101 a0001c0001t0053g0250 a0001c0003t0005g0109 a0001c0003t0005g0122 a0001c0003t0005g0125 a0001c0003t0005g0132 a0001c0003t0006g0048 a0001c0003t0028g0249 a0001c0003t0041g0107 a0001c0003t0049g0077 a0004c0008t0005g0140	52	292	0.1781	1144	c.304 others(1161): Show c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC ATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGTTT TGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTTCC CTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTCCTT TTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTATAC AATATATTATTAACTA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13065907	T T	TCTTCCTT others(1137): Show TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGTGT TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT CCATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGT TTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTT CCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	292	0.0034	1144	c.304 others(1161): Show c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGTGTTG TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC ATTTTTTGGTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGTTT TGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTTCC CTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTCCTT TTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTATAC AATATATTATTAACTA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRXN1_chr20_641615_658200	642362	G G	GGGCCCAG others(1137): Show GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGTGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGCGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGCGGGGGGGCCCA GCGGGGGTGGAGTTGCCGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCGGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGCGGGGGGGCCCAGCGGGGGTGGAGTTGCCGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0047 a0001c0002t0005g0047	1	422	0.0024	1144	c.63 others(1155): Show c.6351_*6352insGCCCCCCCCCCGGCAACTCCACCCCCGCTGGGCC CCCCCGCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCGGCAACTCC ACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCGGCAAC TCCACCCCCGCTGGGCCCCCCCGCAGGCAACTCCACCCCCGCTGGGCCCC CCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCGCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCACTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCC CCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCC CCGCTGGGCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4252		chr20	TogoVar
TRIM44_chr11_35657775_35823007	35802003	G G	GAGTTTTT others(1137): Show GAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGT CATCTAGCATTAGGTATATCTCCCAATACTATCCCTCCCCCCTCCCCCGA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA TCTCATTGTTCAATTCCCACATATGAGTGAGAATATGCGGTGTTTGGTTT TTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCAT GTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTC CATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTTTTGGAC ATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAAC ATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTA TATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGAT CCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAG TCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCA CCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAAATGGTGTGAGAT GATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGAT GAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAA GTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTT TCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTG TCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTTTGTAGGTTGCCTGTT CACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTA GATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTG GACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18522.hp2 HG02717.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0268 a0001c0001t0034g0369 a0001c0001t0034g0268 a0001c0001t0034g0369	2	392	0.0051	1144	c.100 others(1163): Show c.1008-4348_1008-4347insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGC ACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCT GCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATACTATCC CTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCT TCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACATATGAGTGAGAAT ATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGT TTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTA TGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAG TCTATCATTTTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAA TAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATT TATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGT ATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGG TTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTC CGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATT CTAAATGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCT GATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAA TGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATG GGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCT GGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATT TTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAG CTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCAT TGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAA TGGTAATGCCTAGTTTTT	TRIM44	ENSG00000166326.7	transcript	ENST00000299413.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRMT2B_chrX_101004350_101057111	101012722	T T	TAAGAAAA others(1137): Show TAAGAAAATGTGGCACTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCC CATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCA GAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTG CCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCC TGAATGGTAATGCCTAGGTGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAATA ATAATAATAATAATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	264	0.0038	1144	c.138 others(1163): Show c.1389-2016_1389-2015insTTTTTTTTTTTTTTTTTTTTTTTTTT TTATTATTATTATTATTATTATTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTC CCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA ATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGAT TTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTT TGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCC CACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTC ACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCC AAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCT AATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGA ACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGAC AAAGTGCCACATTTTCTT	TRMT2B	ENSG00000188917.15	transcript	ENST00000372936.4	protein_coding	13/13			chrX	TogoVar
TTLL11_chr9_121810674_122098308	121895759	T T	TTGTGTGT others(1137): Show TTGTGTGTGTCCGTAAGTGTGGTTGTGTGGGTTTGTGTGACTGTGATTGT ATCTGTGTGTGTCCGTGTGTGTGGTTGCGTTTGTGAGTGTGTCTGTGTGT ATGTGTGGGTGTGTGTGGATGTGTTTGTGTGTGTGTGAATGTGTGGGTGT GTGTTTGTGTGTCTGTGGGTGTGTGTTTGTGTGTCTGTGGATGTGTGGGT GTGTTTTGTGTTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCT GTGTGTGGATGTGTGGGTGTGTTTCGTGTGTTTGTGTATCTGTGGATGTG TGGGTGTGTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTG TGTGGATGTGTGGGTATGTTTTGTGTGTTTGTGTATCTGTGTATGTGTGG GTGTGTTTTGTGTGTTTCTGAGTGTGTGTCTGTGTGGATGTGTGGGTGTG TGTCTGTGTGGGGGTGTTTTGTGCAGTGGTGTGTCTGTGTGTGGATGTGT GGGTGTGTTTTATATGTTTGTGAGTGTGTATGTGTGGGTGTGTTTTGTGT GTGGGTGTGTGTCTGTGCTTATGTGTGGGTGTGTCTGTGTGTGTGGATGT GTGGGTGTGTTTGTGTGTTTGTGGATGTGTGGGTGTGTTTTTTGTGTTTG TGTGTAGATGTGTGGGTGTGTGTATATGTGGGTGTGTTTTGTGTTTGTGA GTGTGTGTAGATATGTGGACGTGTTTTGTGTGTGTGTGGATGTTTTGTGT GTGTGTATGTGTGGGTGTTTGTGTGTGCGAATGCGGTTGTATGGGTTTGT GTGACTGTGTGTGATGTGTGTGTTCATTTGTGTGTTTGTGTGTGTGTGGA TGTGTGGGTGTGGGTGTGGATGTGTAGGTGTGTTGTGTTTGTGGGTGTGT TTGTGTGTATGTGTGGGTGTATTTGTGTGTCTGTGTGTAGATGGGTGGCT GTGGGTGTGTGTGGCTGTGTGGGTGTGTTTTGTGTGTGTGTCTGTGTGGA TGTGTGGGTGTGTGTTTGTGTCTGTGTGAGTGTGTTTGTGTCTGTGTGTG GATGTGTGGGTGTAGTGTTTGTGAGTGTGAGTCTGTGTCGTGTGCTTTGT GTGTTTGTGTGGATGTGTGGGTGTGTTTGTGTGTGTGGATGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0018 a0004c0006t0018	a0004c0006t0018g0046 a0004c0006t0018g0046	1	174	0.0058	1144	c.148 others(1165): Show c.1482-25012_1482-25011insCACACATCCACACACACAAACACA CCCACACATCCACACAAACACACAAAGCACACGACACAGACTCACACTCA CAAACACTACACCCACACATCCACACACAGACACAAACACACTCACACAG ACACAAACACACACCCACACATCCACACAGACACACACACAAAACACACC CACACAGCCACACACACCCACAGCCACCCATCTACACACAGACACACAAA TACACCCACACATACACACAAACACACCCACAAACACAACACACCTACAC ATCCACACCCACACCCACACATCCACACACACACAAACACACAAATGAAC ACACACATCACACACAGTCACACAAACCCATACAACCGCATTCGCACACA CAAACACCCACACATACACACACACAAAACATCCACACACACACAAAACA CGTCCACATATCTACACACACTCACAAACACAAAACACACCCACATATAC ACACACCCACACATCTACACACAAACACAAAAAACACACCCACACATCCA CAAACACACAAACACACCCACACATCCACACACACAGACACACCCACACA TAAGCACAGACACACACCCACACACAAAACACACCCACACATACACACTC ACAAACATATAAAACACACCCACACATCCACACACAGACACACCACTGCA CAAAACACCCCCACACAGACACACACCCACACATCCACACAGACACACAC TCAGAAACACACAAAACACACCCACACATACACAGATACACAAACACACA AAACATACCCACACATCCACACACAGACACACAAAACACACCCGCACATC CACACACACAAAACACACCCACACATCCACAGATACACAAACACACGAAA CACACCCACACATCCACACACAGACACACAAAACACACCCGCACATCCAC ACACACAAAAACACAAAACACACCCACACATCCACAGACACACAAACACA CACCCACAGACACACAAACACACACCCACACATTCACACACACACAAACA CATCCACACACACCCACACATACACACAGACACACTCACAAACGCAACCA CACACACGGACACACACAGATACAATCACAGTCACACAAACCCACACAAC CACACTTACGGACACACACA	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(1137): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	338	0.0030	1144	c.246 others(1163): Show c.246-36120_246-36119insTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGG others(1138): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGT GGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTT GGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTG GAGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCCGCCCGGCCA GCCGCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT CGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGGTCGGCCAGCCGC CCTGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0015 a0015	a0015c0040 a0015c0040	a0015c0040t0001 a0015c0040t0001	a0015c0040t0001g0169 a0015c0040t0001g0169	1	360	0.0028	1145	c.170 others(1166): Show c.1707+10305_1707+10306insGTCAGCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGC CCTATCCGGGAGGGGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGCGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGAT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTCGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGAG GGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTAGGGGGG	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(1138): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACAT CACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTC AGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAAC ACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACAC ATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACAT CACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAG TCCACCCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0309 a0001c0001t0005g0309	1	337	0.0030	1145	c.61+ others(1160): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGG GGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGG GGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTG GACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGA GGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTG TGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTG TGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTG GGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT GGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
AGXT_chr2_240863824_240885500	240872327	G G	GAGGAGGG others(1138): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCG TGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAA CATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGG TGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACAT GCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGA GAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGT TCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGG AGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAA CATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGA GAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGA ACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTG AGAGTTCGTGAACATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGA GGCGGAGGAGTGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAG TTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAG GAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGA ACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGGTGAGA GTTCGTGAACATGGAGGCAGAGGAGGATGAGAGTTCGTGAACATGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0008 a0011c0014t0008	a0011c0014t0008g0084 a0011c0014t0008g0084	1	444	0.0023	1145	c.525 others(1160): Show c.525-646_525-645insGTGAGAGTTCGTGAACATGCAGGAGGAGGA GGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGT GAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGC AGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGA GGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAG AGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGG TGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTT CGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGA GGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTG AACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGT GAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGC AGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGG TGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATG CAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGGAGGGTGAGAGT TCGTGAACATGGAGGCGGAGGAGTGTGAGAGTTCGTGAACATGGAGGCGG AGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGT GAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGG TGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGGAG GAGGAGGGTGAGAGTTCGTGAACATGGAGGCAGAGGAGGATGAGAGTTCG TGAACATGCAGGAGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGXT_chr2_240863824_240885500	240872327	G G	GAGGAGGG others(1138): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCG TGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAA CATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGG TGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACAT GCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGA GAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGT TCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGG AGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAA CATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGA GAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGA ACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTG AGAGTTCGTGAACATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGA GGCGGAGGAGTGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAG TTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAG GAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGA ACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGGTGAGA GTTCGTGAACATGGAGGCGGAGGAGGATGAGAGTTCGTGAACATGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02922.hp2 others(3): Show HG02257.hp2 HG02922.hp1 HG02922.hp2 HG03225.hp2 HG03486.hp1 HG06807.hp2	a0006 a0011 a0006 a0011	a0006c0007 a0011c0014 a0006c0007 a0011c0014	a0006c0007t0007 a0006c0007t0009 a0011c0014t0011 a0006c0007t0007 a0006c0007t0009 a0011c0014t0011	a0006c0007t0007g0082 a0006c0007t0009g0027 a0006c0007t0009g0085 others(1): Show a0006c0007t0007g0082 a0006c0007t0009g0027 a0006c0007t0009g0085 a0011c0014t0011g0086	6	444	0.0135	1145	c.525 others(1160): Show c.525-646_525-645insGTGAGAGTTCGTGAACATGCAGGAGGAGGA GGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGT GAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGC AGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGA GGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAG AGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGG TGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTT CGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGA GGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTG AACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGT GAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGC AGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGG TGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATG CAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGGAGGGTGAGAGT TCGTGAACATGGAGGCGGAGGAGTGTGAGAGTTCGTGAACATGGAGGCGG AGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGT GAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGG TGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGGAG GAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGATGAGAGTTCG TGAACATGCAGGAGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
APCDD1L_chr20_58454101_58520399	58520302	T T	TAGGAGGA others(1138): Show TAGGAGGATGGGTAGGTGGATGGGAGTGAGATGGATGGGTGGACGGATGG ATAGATGGATGGATGAGTGGATGAGTGGGTGGATGGGTGGATGAATGGGT GGATGGGTCAGTAGGTGGATGAGCTGGTGGATTAATGGGTGGATGAGTGG GTGGGTAAATGGATAGATGGATAAATGGGTGAGTAGGTAGGTGAGTTAAT GGGGGGATGATTGATTGAATGGGTGAGTAAATGGGTGGCTGGGTGGATGG GTGGGCAGATGGGTGGATGAGTGAGTGGGTAGGTGGGTGGATAGGTGGGT GGGTTAATGACTGAGTGAATGGATAGGTAGATCAGGGAGGGAGTGAGTGA GTGGGTGGGTGGATGGTTGGGTGGGTGGTTGGATAGGTGAATGGGTGAGT GGATGCATAGGTGATGGATGGGTAGGTGGGTGGGCTAATGGGTGGGTGTG TGAGTGGGTGAGTGTATGGGTGGGTGGGTGGGTGGATAGACGGGAGGGTG GATAGGTGTGATAGGTGTGTGGGTGGGCAGGTGGGTGGGTGGATAAGTGG GAGGGTGGATAGGTGGGTGGGTGGATAGGTGGGTGGGTGGGTGTATGGAT AGGTGAATGGGTGAGTGGATGGATAGGTGACGGATGGGTAGGTGGGTGGG CTCATGAGTGGATGGGTGTGCAAGAAGGTTAGCGTATGGGTGGGTGGATA GATGGGAGGGTGGATAGGTGTGTGGGTGGATAGGTGGGAAGGTGGATGGG TGGGTGGATAGGTGGGTGGGTGGATAGGTGGGAGGGTGGATAGGCGGGAG GGTGGATAGGCGGGTGGGTGGATAGGCAGGTGGGTGGGTGGGTGGATGGA TAGGTGAATGGGTGAGTGGATAGATAGGTGATGGATGGGTAGGTGGGTGG GCTAATGAGTGGATGGGTGTGTGAGATGGTGAGTATATGGGTGGATGGGT GGGTGGGTGGATAGATGAGAGGGTGGATAGGTGTGTGGGTGGATAGGTGG GAAGATGGATAGGTGGGTGGGTGGATAGGTGGGAGGGTGGATAGGCAGGT GGGTGGGTGGATGGATAGGTGAATGGGTGAGTGCATGGATAGGTGATGGA TGAGTAGATGGGTAGGCTAATGAGTGGATGGGTGTGTGACAGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG06807.hp2 NA20905.hp1 others(1): Show HG00323.hp2 HG06807.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0021 a0002c0002t0030 others(1): Show a0001c0001t0010 a0001c0001t0021 a0002c0002t0030 a0002c0002t0031	a0001c0001t0010g0022 a0001c0001t0021g0027 a0002c0002t0030g0032 others(1): Show a0001c0001t0010g0022 a0001c0001t0021g0027 a0002c0002t0030g0032 a0002c0002t0031g0024	4	376	0.0106	1145	c.-55 others(1156): Show c.-5596_-5595insCACCCTGTCACACACCCATCCACTCATTAGCCTA CCCATCTACTCATCCATCACCTATCCATGCACTCACCCATTCACCTATCC ATCCACCCACCCACCTGCCTATCCACCCTCCCACCTATCCACCCACCCAC CTATCCATCTTCCCACCTATCCACCCACACACCTATCCACCCTCTCATCT ATCCACCCACCCACCCATCCACCCATATACTCACCATCTCACACACCCAT CCACTCATTAGCCCACCCACCTACCCATCCATCACCTATCTATCCACTCA CCCATTCACCTATCCATCCACCCACCCACCCACCTGCCTATCCACCCACC CGCCTATCCACCCTCCCGCCTATCCACCCTCCCACCTATCCACCCACCCA CCTATCCACCCACCCATCCACCTTCCCACCTATCCACCCACACACCTATC CACCCTCCCATCTATCCACCCACCCATACGCTAACCTTCTTGCACACCCA TCCACTCATGAGCCCACCCACCTACCCATCCGTCACCTATCCATCCACTC ACCCATTCACCTATCCATACACCCACCCACCCACCTATCCACCCACCCAC CTATCCACCCTCCCACTTATCCACCCACCCACCTGCCCACCCACACACCT ATCACACCTATCCACCCTCCCGTCTATCCACCCACCCACCCACCCATACA CTCACCCACTCACACACCCACCCATTAGCCCACCCACCTACCCATCCATC ACCTATGCATCCACTCACCCATTCACCTATCCAACCACCCACCCAACCAT CCACCCACCCACTCACTCACTCCCTCCCTGATCTACCTATCCATTCACTC AGTCATTAACCCACCCACCTATCCACCCACCTACCCACTCACTCATCCAC CCATCTGCCCACCCATCCACCCAGCCACCCATTTACTCACCCATTCAATC AATCATCCCCCCATTAACTCACCTACCTACTCACCCATTTATCCATCTAT CCATTTACCCACCCACTCATCCACCCATTAATCCACCAGCTCATCCACCT ACTGACCCATCCACCCATTCATCCACCCATCCACCCACTCATCCACTCAT CCATCCATCTATCCATCCGTCCACCCATCCATCTCACTCCCATCCACCTA CCCATCCTCCT	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding		4904		chr20	TogoVar
ASAP1_chr8_130047104_130448674	130049641	G G	GGGGGCAG others(1138): Show GGGGGCAGAGGGGAACACATGGAGGGCAGAGGAGAACACATGGGGGCAGA GGGGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGG CAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGG GAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATG GGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGA GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGG CAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAATACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGG GCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGG AATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGA GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGG GCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGG GAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	308	0.0033	1145	c.50 others(1156): Show c.5089_*5090insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCT CCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCC CCCCATGTATTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGT GTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCT CTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATT CCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGC CCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGT GTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCT CTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCC ATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGC CCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCC TCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTC TCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCC CCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGT GTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCC CATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCTCCATGTGTTC CCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2462		chr8	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(1138): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCACCATCACCACCATCACCA CCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATCACC ACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCATCACCACCACCACCATCACCATCACCACCA CCATCACCACCACCATCAACACCATTACCACCACCACCACTACCACCACC ATCAATACCACCATCACCACCACCATCATCATCACCATCACCACCATCAT CACCACCATCACCACCATCACCATCACCATCACCACCATCATCATCACCA CCATCACCATCACCACCACCACCATCACCACCATCACCACCACTATCAAC ATCATCATCATCACCACCATCAACACCATCATCACCACCACTGTCATCAC CACCACCACCATCACCACCACCATCACCACCATCTCACCATCACCATCAC CACCATCATCACCACCACCATCACCACCACCATCATCACCATCACCACCA TCATCATCACCACCATCACCACCACCATCACCACCACCATCACCATCACC ATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCATCAA CATCATCATCATCACCATCACCACCATCATCACCACCACCGTCATCACCA CCAGCACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCA TCACCACCATCATCACCACCACCATCACCACCACCATCACCATCACCATC ACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACC ACCACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCAC CACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCAACACCACC ATCACCACCACCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp1 HG02015.hp2 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0018 a0002c0003t0013g0018	2	376	0.0053	1145	c.63+ others(1158): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGAT GGTGAGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGT GATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGT GATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGG TGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATG GTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGAT GGTGGTGATGATGATGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGG TGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGG TGATGGTGGTGGTGGTGATGACAGTGGTGGTGATGATGGTGTTGATGGTG GTGATGATGATGATGTTGATAGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGATGGTGATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGG TGGTGATGGTGGTGATGATGGTGGTGATGGTGATGATGATGGTGGTGGTG ATGGTGGTATTGATGGTGGTGGTAGTGGTGGTGGTGGTAATGGTGTTGAT GGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGATGGTGGTGCTGGTGATGATGGTGGT GGTAGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGATGAAGG TGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTTATG GTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGAT GATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCATC others(1138): Show CCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATCACC ACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCACCAC CACCTTCATCATCACCACCATCACCATCACCACCATCACCACCACCACCA CTACCACCACCATCATCACCAGCACCACCATCACCAGCACCACCATCACC ATCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCAC CATCACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCA ACACCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACC ACCACCATCATCATCACCATCACCACCATCATCACCACCACCATCACCAC CATCACCATCACCATCACCACCATCATCATCACCACCATCACCATCACCA CCACCACCATCACCACCATCACCACCAGCACCACCACTATCAACATCATC ATCATCACCACCATCAACACCATCATCACCACCACTGTCATCACCACCAC CACCACCATCACCACCACCATCACCACCATCTCACCATCACCATCACCAC CATCATCACCACCACCATCACCACCACCATCATCACCATCACCACCATCA TCATCACCACCATCACCACCACCATCACCACCACCATCACCATCACCATC ACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACAT CATCATCATCACCATCACCACCATCATCACCACCACCGTCATCACCACCA GCACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCA CCACCATCATCACCACCACCATCACCACCACCATCACCATCACCATCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCATCA TCATCACCACCACCACCACCATCACCACCACCACCACCATCAACACCACC ATCACCACCACCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02922.hp1 others(1): Show HG01070.hp1 HG01071.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0028 a0001c0002t0009 a0001c0002t0028	a0001c0002t0009g0035 a0001c0002t0028g0247 a0001c0002t0028g0248 a0001c0002t0009g0035 a0001c0002t0028g0247 a0001c0002t0028g0248	4	376	0.0106	1145	c.63+ others(1158): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGA TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATG GTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGT GATGGTGAGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGT GGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGA TGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTG ATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGT GATGGTGGTGATGATGATGGTGGTGATGGTGATGATGGTGGTGGTGATGG TGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGTGATGACAGTGGTGGTGATGATGGTGTTG ATGGTGGTGATGATGATGATGTTGATAGTGGTGGTGCTGGTGGTGATGGT GGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGATGGTGGTGA TGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTG ATGATGATGGTGGTGGTGATGGTGGTATTGATGGTGGTGGTAGTGGTGGT GGTGGTAATGGTGTTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGATGGTGGTGCTGGTGATGGTGGTGCTGGTGAT GATGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGG TGATGATGAAGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTT ATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGT GATGATGATGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CENPM_chr22_41933737_41952152	41939844	G G	GAAGAAAA others(1138): Show GAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	258	0.0039	1145	c.403 others(1160): Show c.403-649_403-648insTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP61_chr20_20047532_20365698	20320519	A A	AATATATG others(1138): Show AATATATGTAATATATATTATATATGTAATATAATATATGTAATATATAT TATATATGTAATATATATTACATATATTATATATGCAATATATATTATAT ATATTATATATGCAATATATATTATATATATTATATATGCAATATATATT ATATATATTATATATGCAATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATATTACATATGTAATATATATTA CATATGTAATATATAATATATTATATATTACATATGTAATATATAATATA TATTACATATGTAATATATTATATATATTACATATGTAATATATAATATA TATTACATATGTAATATATTATATATTACATATGTAATATATTATATATT ACATATGTAATATATAATATATTATATATTACATATGTAATATATATTAC ATATGTAATATATATAATATATATTGCATATATAATATATATAATATATA TGTAATATATTATATATATTATATATGTAATATATATTACATATATAATA TATATTATATATATTACATATATTATATATGTAATATATATTACATATGT AATATATGTAATATATATTACATATGTAATATATATTATATATGTAATAT ATATTACATATATTATATATGTAATATATATTATATATATTATATATGTA ATGTATAATATATATATTATATATGTAATATATATTATATATAATATATG TAATATATATTATATATGTAATGTATATTATATATATTATATATGTAATG TATATTATATATAATATATGTAATGTATATTATATATGTAATATATATTA TATATATTATATATGTAATATATATTATATATATTATATATGTAATATAT ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATATTATATATGTAATATATATTATATATATTATA TATGTAATATATATTATATATATTATATATGTAATATATATTATATATAT TATATATGTAATATATATTATATATATTATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0039	1	236	0.0042	1145	c.342 others(1166): Show c.3423-21306_3423-21305insGTAATATATATTATATATGTAATA TAATATATGTAATATATATTATATATGTAATATATATTACATATATTATA TATGCAATATATATTATATATATTATATATGCAATATATATTATATATAT TATATATGCAATATATATTATATATATTATATATGCAATATATATTATAT ATGCAATATATATTATATATATTATATATGCAATATATATTATATATATT ACATATGTAATATATATTACATATGTAATATATAATATATTATATATTAC ATATGTAATATATAATATATATTACATATGTAATATATTATATATATTAC ATATGTAATATATAATATATATTACATATGTAATATATTATATATTACAT ATGTAATATATTATATATTACATATGTAATATATAATATATTATATATTA CATATGTAATATATATTACATATGTAATATATATAATATATATTGCATAT ATAATATATATAATATATATGTAATATATTATATATATTATATATGTAAT ATATATTACATATATAATATATATTATATATATTACATATATTATATATG TAATATATATTACATATGTAATATATGTAATATATATTACATATGTAATA TATATTATATATGTAATATATATTACATATATTATATATGTAATATATAT TATATATATTATATATGTAATGTATAATATATATATTATATATGTAATAT ATATTATATATAATATATGTAATATATATTATATATGTAATGTATATTAT ATATATTATATATGTAATGTATATTATATATAATATATGTAATGTATATT ATATATGTAATATATATTATATATATTATATATGTAATATATATTATATA TATTATATATGTAATATATATTATATATATTATATATGTAATATATATTA TATATATTATATATGTAATATATATTATATATATTATATATGTAATATAT ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATATTATATATGTAATATATATTATATATATTATA TATGTAATATATATTATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRM3_chr1_239381568_239920450	239412305	T T	TCCTCCCT others(1138): Show TCCTCCCTTCCTTCCCCCACCTCTTTCCTCCCTCCCTGTCTTCCCTTCCT CTTCCCCATTCCCTTCCCTCCCCTTCCCTTCCCTCCCCTCCCCTCCCCAT CTCTTCTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCT CCCTTCCTGCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTC CCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTGCCTC CCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCTTCCTGCCTCCCTCCCT TCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCT TCCTGCCTCCCTCCCTTCCTGCCTCCCTTCCTGCCTCCCTCCCTCCCTCC CTTCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTTCCTGC CTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTTCCTCCCTCCTT CCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCT GCCTCCCTCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTC CCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTC CCTTCCTGCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0089 a0001c0001t0034g0089	1	116	0.0086	1145	c.-52 others(1166): Show c.-521+25090_-521+25091insCCCCCACCTCTTTCCTCCCTCCCT GTCTTCCCTTCCTCTTCCCCATTCCCTTCCCTCCCCTTCCCTTCCCTCCC CTCCCCTCCCCATCTCTTCTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCC TTCCTGCCTCCCTCCCTTCCTGCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTTCCTGC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTC CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTGCCTCCCTCCCTTCCTGCC TCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTTCCTGCCTC CCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCC TTCCTGCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTC CCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCC TTCCTCCCTCCTTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCC TCCCTCCCTTCCTGCCTCCCTCCTCCCTCCCTCCCTTCCTGCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTGCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTTCCTGCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTGCCTCCCTCCCTTCCTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1138): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGC GGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGC GGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTA TAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAAT ATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGG GGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAG GTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGG CGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGT GTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATA ATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGG CAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18998.hp1 NA18969.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0024g0216 a0001c0001t0024g0217	2	272	0.0074	1145	c.109 others(1164): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGG TGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAG CTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATG GAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGG TGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGA TAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGC GGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGC AATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATA TGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTA GGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DYM_chr18_49031387_49465645	49202848	T T	TCCGGGAG others(1138): Show TCCGGGAGGGAGGTTGGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CATCCGGGAGGGAGGTGAGGGGTCAGCCCCCCCCGCCCGGCCAGCCGTGC CATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCC GTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAA GAGCCCCTCAGCCCGGCCAGCCACCCTGTCCGGGAGGGAGATGGGGGGGT CAGCCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAACCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGAAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCCGTCCGGCCAGCCGC TCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCTCTGCCCGGCCAGCCGCCCCGACTGGGAGGTGAGGGGCGCC TCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCTCCGCCCGGCCAG CCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	290	0.0035	1145	c.162 others(1164): Show c.1625+6702_1625+6703insTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCCA CCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGTCGGGGCGGCT GGCCGGGCAGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGAGCGGCTGGCCGGACGGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTTCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GTTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACAGGGTGG CTGGCCGGGCTGAGGGGCTCTTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCAACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGGCTGACC CCTCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC CCCCCAACCTCCCTCCCGG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
GAS6_chr13_113815549_113869076	113824256	C C	CCGCGGTC others(1138): Show CCGCGGTCTGGGGTCTGTCAGGAGCACACGCGGTCTGGGGTCTGAGCTGT CAGGAGCACCTGCGGTCTGAGTTCTGAGCTGTCAGGAGCATGCGCGGTCT GGGGTCTGAGCTGTCAGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCAGG AGCACGCGCGGTCTGGGATCTGAGCTGTCAGGAGCACTGTGGTCTGGGGT CTGAACTGTCAGGAGCATGCGCGGTCTGGGGTCTGAACTGTCAGGAGCAT GCGCGGTCTGGGGTCGGAGCTGTCGGGAGCACCTGCGGTCTGGGGTCTGA GCTGTCGGGAGCACCTGCGGTCTGGGGTCTGAGCTGTCGGGAGCACTATG GTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGT CGGGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCT GGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGG AGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGAGGTCTGGGG TCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCA CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGT CTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCG GGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGG GGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAG CACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTC TGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACG CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAG CTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	143	0.0070	1145	c.147 others(1162): Show c.1478-707_1478-706insCGTGCTCCCGACAGCTCAGACCCCAGAC CGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAG CTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCG CGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCA GACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTG CTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACC CCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCC CGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAG ACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGAC AGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCG CGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCT CAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCG TGCTCCCGACAGCTCAGACCCCAGACCTCGCGTGCTCCCGACAGCTCAGA CCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCT CCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCC AGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCG ACAGCTCAGACCCCAGACCATAGTGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCGCAGGTGCTCCCGACAGC TCCGACCCCAGACCGCGCATGCTCCTGACAGTTCAGACCCCAGACCGCGC ATGCTCCTGACAGTTCAGACCCCAGACCACAGTGCTCCTGACAGCTCAGA TCCCAGACCGCGCGTGCTCCTGACAGCTCAGACCCCAGACCGCGCGTGCT CCTGACAGCTCAGACCCCAGACCGCGCATGCTCCTGACAGCTCAGAACTC AGACCGCAGGTGCTCCTGACAGCTCAGACCCCAGACCGCGTGTGCTCCTG ACAGACCCCAGACCGCG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113824256	C C	CCGCGGTC others(1138): Show CCGCGGTCTGGGGTCTGTCAGGAGCACACGCGGTCTGGGGTCTGAGCTGT CAGGAGCACCTGCGGTCTGAGTTCTGAGCTGTCAGGAGCATGCGCGGTCT GGGGTCTGAGCTGTCAGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCAGG AGCACGCGCGGTCTGGGATCTGAGCTGTCAGGAGCACTGTGGTCTGGGGT CTGAACTGTCAGGAGCATGCGCGGTCTGGGGTCTGAACTGTCAGGAGCAT GCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCTGCGGTCTGGGGTCTGA GCTGTCGGGAGCACCTGCGGTCTGGGGTCTGAGCTGTCGGGAGCACTATG GTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGT CGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCT GGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGG AGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGG TCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCA CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGT CTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCG GGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGG GGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAG CACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTC TGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACG CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAG CTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	143	0.0070	1145	c.147 others(1162): Show c.1478-707_1478-706insCGTGCTCCCGACAGCTCAGACCCCAGAC CGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAG CTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCG GGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCA GACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTG CTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACC CCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCC CGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAG ACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGAC AGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCG CGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCT CAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCG TGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGA CCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCT CCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCC AGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCG ACAGCTCAGACCCCAGACCATAGTGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCGCAGGTGCTCCCGACAGC TCAGACCCCAGACCGCGCATGCTCCTGACAGTTCAGACCCCAGACCGCGC ATGCTCCTGACAGTTCAGACCCCAGACCACAGTGCTCCTGACAGCTCAGA TCCCAGACCGCGCGTGCTCCTGACAGCTCAGACCCCAGACCGCGCGTGCT CCTGACAGCTCAGACCCCAGACCGCGCATGCTCCTGACAGCTCAGAACTC AGACCGCAGGTGCTCCTGACAGCTCAGACCCCAGACCGCGTGTGCTCCTG ACAGACCCCAGACCGCG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GTPBP6_chrX_299759_323796	316301	G G	GACACACA others(1138): Show GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC ACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACA CACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAAC ACATACATACGCAGACACACACACACACAAACACACACACACACAGTAAA TACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGTAA ATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGA CAGACACAGACACACAGACACACACACAGGGTAAACACATCCTGACGGAC ACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAACA CACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACAC ACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACA CACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGG ACAGACATACACACACACACACACACACACGCAGACACACAGAGACACAC ACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACA CACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGAC ACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACAC ACAGAGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTA AACACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGA CACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACAC ACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGA CATGCGCAGACACACAGACACACACACACACAGACACACACAGTAACACA TCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACAC ACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	155	0.0065	1145	c.487 others(1160): Show c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT GTGTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTG TGTGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGT GTGTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTG TGTGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGT GTCTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTC TGTGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCT GTCCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTG TCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGT GTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTT TGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGT GTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316301	G G	GACACACA others(1138): Show GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC ACACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACA CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA ACACATACATACGCAGACACACACACACACAAACACACACACACACAGTA AATACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGT AAATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATG GACAGACACAGACACACAGACACACACACAGGGTAAACACATCCTGACGG ACACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAA CACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACAC ACACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACA CACACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAG GGACAGACATACACACACACACACACACACGCAGACACACAGAGACACAC ACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACA CACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGAC ACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACAC ACAGAGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTA AACACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGA CACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACAC ACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGA CATGCGCAGACACACAGACACACACACACACAGACACACACAGTAACACA TCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACAC ACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	155	0.0065	1145	c.487 others(1160): Show c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT GTTTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(1138): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGG AGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGG AGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	204	0.0049	1145	c.978 others(1162): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCA GGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGA GAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAG GGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAG GAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNQ2_chr20_63395208_63477655	63450548	A A	ACTGCTGG others(1138): Show ACTGCTGGGGGGTGGGGGGAAGACCTGCTGTGGGGAGGGGGAAGACCTGC TGTGGGGTGGAAGACCTGCTGTGGGGTAGGGGAAGACCTGCTGTGGGGTG GGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGG AAGACCTGCTGTGGGGTGGGGGGGAAGACCTGCTGTGGGGTGGAAGACCT GCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGGGAAGACCTGCTG TGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACTGCTGGGGGGTG GGGGAAGACTGCTGGGGGGTGGGGGAAGACCTGCTGGGGGGTGGGGGAAG ACCTGCTGTGGGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCT GCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGAAGACCTGCTGGG GGGTGGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGG GGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAG ACCTGCTGTGGGGTGGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCT GGGGGGTGGGGGGAAGACCTGCTGGGGGGTGGAGGAAGACCTGCTGGGGG GTGTGGGAAGACCTGCTGGGGGGAGGGGGAAGACCTGCTGTGGGGTGTGG GAAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGAAGAC CTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTG TAGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGT GGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGA AGACCTGCTGGGGTGAGGGGGAAGACCTGCTGTGGGGTGTGGGAAGACCT GCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGTGGGAAGACCTGCTGTAG GGTGGGGGAAGACTGCTGGGGGGTGGGGGGAAGACCTGCTGGGGGGTGGG GGAAGACCTGCTGGGGGGAGGGGGAAGACCTGCTGGGGGGTGGGGGAAGA CCTGCTGGGGGGGTGGGGGGAAGACCTGCTGGGGGTGGGGGAAGAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0052 a0001c0012t0052	a0001c0012t0052g0043 a0001c0012t0052g0043	1	330	0.0030	1145	c.297 others(1162): Show c.297-3712_297-3711insGTCTTCCCCCACCCCCAGCAGGTCTTCC CCCCACCCCCCCAGCAGGTCTTCCCCCACCCCCCAGCAGGTCTTCCCCCT CCCCCCAGCAGGTCTTCCCCCACCCCCCAGCAGGTCTTCCCCCCACCCCC CAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCACACCCCCCAGCAGT CTTCCCCCACCCTACAGCAGGTCTTCCCACACCCCACAGCAGGTCTTCCC CCTCACCCCAGCAGGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCC TACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGC AGGTCTTCCCCCACCCTACAGCAGGTCTTCCCCCACCCCACAGCAGGTCT TCCCCCACCCCACAGCAGGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCC ACCCTACAGCAGGTCTTCCCACACCCCACAGCAGGTCTTCCCCCTCCCCC CAGCAGGTCTTCCCACACCCCCCAGCAGGTCTTCCTCCACCCCCCAGCAG GTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTC CCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCAC CCCACAGCAGGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACA GCAGGTCTTCCCCCACCCCCCAGCAGGTCTTCCCCCCACCCCCCAGCAGT CTTCCCCCACCCTACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCC CCACCCCCCACAGCAGGTCTTCCCCCACCCCCCAGCAGGTCTTCCCCCAC CCCCCAGCAGTCTTCCCCCACCCCCCAGCAGTCTTCCCCCACCCCACAGC AGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCCCACCCCACAGCAGGT CTTCCCCCACCCCACAGCAGGTCTTCCACCCCACAGCAGGTCTTCCCCCC CACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCACCCC ACAGCAGGTCTTCCCCCCCACCCCACAGCAGGTCTTCCCCTACCCCACAG CAGGTCTTCCACCCCACAGCAGGTCTTCCCCCTCCCCACAGCAGGTCTTC CCCCCACCCCCCAGCAG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(1138): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCA GCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCCAT CCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTC ATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	380	0.0026	1145	c.507 others(1162): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGG ATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGA TGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGG ATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(1138): Show CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCA GCACCTCATCCACCCACACACCAGCACCTCATCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA CCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCCAT CCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTC ATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA18960.hp1 others(2): Show HG03491.hp2 HG03492.hp2 NA18960.hp1 NA18984.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0042 a0001c0001t0001g0246 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0042 a0001c0001t0001g0246 a0001c0001t0005g0001	5	380	0.0132	1145	c.507 others(1162): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGG ATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(1138): Show CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCA GCACCTCATCCACCCACACACCAGCACCTCATCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA CCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCCAT CCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACGAGCATCTC ATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	380	0.0026	1145	c.507 others(1162): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGATGCTCGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGG ATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(1138): Show CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA CCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCCAT CCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACC CACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTC ATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	380	0.0026	1145	c.507 others(1162): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGG ATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LMF1_chr16_848634_975984	859347	T T	TGTCTCGG others(1138): Show TGTCTCGGGACGGTTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGAGTCGTGTCACGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCCCGGGACGGGTGTGCGTG GTGTCCCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCACGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACG GGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGAGACGGGTGTGCAGTGATGTCTCGGGACGGG TGTGCACTGATGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGATGTCACGGGACGGGTGTGCA GTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0003 a0004c0029t0003	a0004c0029t0003g0193 a0004c0029t0003g0193	1	294	0.0034	1145	c.153 others(1164): Show c.1530-4642_1530-4641insCACTGCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACATCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACATCAGTGCACACCCGTCCCGAGACATCACTGCACACCCGTC TCGAGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTG ACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCA CACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCG TGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGGGACACCACGCACACCCGTCCCGGGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGTGACATCACTCACACCCGT CCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCAC TGCACAACCGTCCCGAGAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MAP3K19_chr2_134959491_135052447	135033467	C C	CCCCGGAC others(1138): Show CCCCGGACGGGGCGGCTGGCCGGGCGGGGGGATGACCCCCCCACCTCCCT CCCGGAAGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCCCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCCCACCTCCCAGCAGGGGTGGCTGGGCAGAGGCGCCCCCCA CCCCCCGGACGGGGCGGCCGGCCGGGGGGGCTAACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG CGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCCCCCCTCACCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCGCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCCCACCTCCCAGCAGGG GCGGCTGGGCAGAGGCGCCCCCCACCCCCCGGACGGGGCGGCCGGCCGGG GGGGCTAACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGAAGGGGTGGCTGGCCGGGCGGGGACTGACCCCCCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0008 a0021c0025t0008	a0021c0025t0008g0148 a0021c0025t0008g0148	1	334	0.0030	1145	c.-28 others(1164): Show c.-283-2968_-283-2967insAGGGAGGTGGGGGGGTCAGTCCCCGC CCGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTTAGCCCCCCCGGCCGGCCGCCCCGTCCGGGGGGTGGG GGGCGCCTCTGCCCAGCCGCCCCTGCTGGGAGGTGGGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTTAGCCCCCCCGGC CGGCCGCCCCGTCCGGGGGGTGGGGGGCGCCTCTGCCCAGCCACCCCTGC TGGGAGGTGGGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGC GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGA GGGGGGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCC GGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCATCCCCCCGCCCG GCCAGCCGCCCCGTCCGGG	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12			chr2	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGGGGGA others(1138): Show AAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGAGG AGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAA GACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAAAG AGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGA GGAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACG GGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAAAGAGGG GGAAGACGGGAGAAGGAGGAGAGGAAAGGGGGAAGATGGGAGGGGGAGGA GAGGAAGGAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGGGGGGAAGAT GGGAGGAGGAGAGGAAAGGGGGGAAGACAGGAGGAGGAGTGGAAAGAGGG GGAAGATGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAG AGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGAGCAGATGGGA GGAGGAGAAGAGGAAAGGGGGAAGGTGGGAGGAGGAGAAGAGGAAAGGGG GAAGACGGGAGGAGGAGAAGAGGAAAGAGGGGGAAGACAGGAGGAGGAGA AGAGGAAAGAGGGGGAAGGTGGGAGGAGGAGAGGAGGAAAGAGGGGGAAG ACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGGAGAG GAAAGGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGG AGGAGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGA AGACGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGG AAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGG GGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGG AAGACGGGAGGAGGAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACA GGAAAGAGGGGGAAGATGGGAGGAGAAGAGGAAAGAGGGGGAAGATGGGA GGAGAAGAGGAAAGAGGGGGAAGATGGAAGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0017 a0005c0013t0017	a0005c0013t0017g0053 a0005c0013t0017g0053	1	326	0.0031	1145	c.162 others(1164): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCTTCCATCTT CCCCCTCTTTCCTCTTCTCCTCCCATCTTCCCCCTCTTTCCTCTTCTCCT CCCATCTTCCCCCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCC TCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTC CCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTCCTCTCCTC CTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCT TTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTT CCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCTCCCATCTTCCCCCTCTT TCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCCTCTCCTCCTCCC ACCTTCCCCCTCTTTCCTCTTCTCCTCCTCCTGTCTTCCCCCTCTTTCCT CTTCTCCTCCTCCCGTCTTCCCCCTTTCCTCTTCTCCTCCTCCCACCTTC CCCCTTTCCTCTTCTCCTCCTCCCATCTGCTCCCTCTTTCCTCTCCTCCT CCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTC TCCTCCTCCTCCCATCTTCCCCCTCTTTCCACTCCTCCTCCTGTCTTCCC CCCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTGTCCTCCTCCTCC CGTCTTCCCCCTCCTTCCTCTCCTCCCCCTCCCATCTTCCCCCTTTCCTC TCCTCCTTCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCC CCTCTTTCCTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCA TCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCT CCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTC TTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTT CCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTC CCCTTCCCATCTTCCCCCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGGGGGA others(1138): Show AAGGGGGAAGATGGGAGGGGGAGGAGAGGAAGGAGGGGGAAGATGGGAGG AGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGTGGAAAGAGGGGGA AGATGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGG AAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGG AGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGA AGACGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGGAGAGG AAAGGGGGAAGATGGGAGGGGGAGGAGAGGAAGGAGGGGGAAGACGGGAG GAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGA AGACAGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAAA GAGGGGGAAGATGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGG AGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGGGAGCAGATG GGAGGAGGAGAAGAGGAAAGGGGGAAGGTGGGAGGAGGAGAAGAGGAAAG GGGGAAGACGGGAGGAGGAGAAGAGGAAAGAGGGGGAAGGTGGGAGGAGG AGAGGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGG AAGATGGGAGGAGGAGGATAGGAAAGGGGGGAAGACGGGAGGAGGAGGAG AGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGG AGGAGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGA AGACGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGG AAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGG GGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGG AAGACGGGAGGAGGAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACA GGAAAGAGGGGGAAGATGGGAGGAGAAGAGGAAAGAGGGGGAAGATGGGA GGAGAAGAGGAAAGAGGGGGAAGATGGAAGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0272 a0001c0002t0004g0272	1	326	0.0031	1145	c.162 others(1164): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCTTCCATCTT CCCCCTCTTTCCTCTTCTCCTCCCATCTTCCCCCTCTTTCCTCTTCTCCT CCCATCTTCCCCCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCC TCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTC CCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTCCTCTCCTC CTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCT TTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTT CCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCCTTTCC TATCCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTC TTCCCCCTCTTTCCTCCTCTCCTCCTCCCACCTTCCCCCTCTTTCCTCTT CTCCTCCTCCCGTCTTCCCCCTTTCCTCTTCTCCTCCTCCCACCTTCCCC CTTTCCTCTTCTCCTCCTCCCATCTGCTCCCTTTCCTCTCCTCCTCCCGT CTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTC CTCCTCCCATCTTCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCT TTCCACTCCTCCTCCTGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTC CCCCCTTTCCTCTTCTCCTCCTCCCGTCTTCCCCCTCCTTCCTCTCCTCC CCCTCCCATCTTCCCCCTTTCCTCTCCTCCTTCTCCCGTCTTCCCCCTCT TTCCTCTCCTTCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTC CTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCT TTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCACTCCTCCTCCCATCTT CCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTC CCCCTCCCATCTTCCCCCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(1138): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCACCATCACCACCATCACCA CCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATCACC ACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCATCACCACCACCACCATCACCATCACCACCA CCATCACCACCACCATCAACACCATTACCACCACCACCACTACCACCACC ATCAATACCACCATCACCACCACCATCATCATCACCATCACCACCATCAT CACCACCATCACCACCATCACCATCACCATCACCACCATCATCATCACCA CCATCACCATCACCACCACCACCATCACCACCATCACCACCACTATCAAC ATCATCATCATCACCACCATCAACACCATCATCACCACCACTGTCATCAC CACCACCACCATCACCACCACCATCACCACCATCTCACCATCACCATCAC CACCATCATCACCACCACCATCACCACCACCATCATCACCATCACCACCA TCATCATCACCACCATCACCACCACCATCACCACCACCATCACCATCACC ATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCATCAA CATCATCATCATCACCATCACCACCATCATCACCACCACCGTCATCACCA CCAGCACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCA TCACCACCATCATCACCACCACCATCACCACCACCATCACCATCACCATC ACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACC ACCACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCAC CACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCAACACCACC ATCACCACCACCATCATCATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02523.hp2 HG02015.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0074 a0001c0001t0001g0090	2	322	0.0062	1145	c.48 others(1156): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATG GTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGTGAT GGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGG TGAGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGA TGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGA TGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTG ATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGG TGGTGATGATGATGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGGTG GTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGATGACAGTGGTGGTGATGATGGTGTTGATGGTGGT GATGATGATGATGTTGATAGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGATGGTGATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTG GTGATGGTGGTGATGATGGTGGTGATGGTGATGATGATGGTGGTGGTGAT GGTGGTATTGATGGTGGTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGG TGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGATGGTGATGGTGGTGCTGGTGATGATGGTGGTGG TAGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGATGAAGGTG GTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTTATGGT GGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGA TGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCATC others(1138): Show CCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATCACC ACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCACCAC CACCTTCATCATCACCACCATCACCATCACCACCATCACCACCACCACCA CTACCACCACCATCATCACCAGCACCACCATCACCAGCACCACCATCACC ATCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCAC CATCACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCA ACACCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACC ACCACCATCATCATCACCATCACCACCATCATCACCACCACCATCACCAC CATCACCATCACCATCACCACCATCATCATCACCACCATCACCATCACCA CCACCACCATCACCACCATCACCACCAGCACCACCACTATCAACATCATC ATCATCACCACCATCAACACCATCATCACCACCACTGTCATCACCACCAC CACCACCATCACCACCACCATCACCACCATCTCACCATCACCATCACCAC CATCATCACCACCACCATCACCACCACCATCATCACCATCACCACCATCA TCATCACCACCATCACCACCACCATCACCACCACCATCACCATCACCATC ACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACAT CATCATCATCACCATCACCACCATCATCACCACCACCGTCATCACCACCA GCACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCA CCACCATCATCACCACCACCATCACCACCACCATCACCATCACCATCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCATCA TCATCACCACCACCACCACCATCACCACCACCACCACCATCAACACCACC ATCACCACCACCATCATCATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02922.hp1 others(1): Show HG01070.hp2 HG01071.hp1 HG02922.hp1 NA19043.hp2	a0004 a0011 a0019 a0004 a0011 a0019	a0004c0024 a0011c0018 a0019c0025 a0004c0024 a0011c0018 a0019c0025	a0004c0024t0008 a0011c0018t0006 a0019c0025t0004 a0004c0024t0008 a0011c0018t0006 a0019c0025t0004	a0004c0024t0008g0134 a0011c0018t0006g0303 a0019c0025t0004g0001 a0004c0024t0008g0134 a0011c0018t0006g0303 a0019c0025t0004g0001	4	322	0.0124	1145	c.48 others(1156): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGT GATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGA TGGTGAGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGG TGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGG TGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATG GTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGAT GGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGA TGGTGGTGATGATGATGGTGGTGATGGTGATGATGGTGGTGGTGATGGTG GTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTG GTGATGGTGGTGGTGGTGGTGATGACAGTGGTGGTGATGATGGTGTTGAT GGTGGTGATGATGATGATGTTGATAGTGGTGGTGCTGGTGGTGATGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGATGGTGGTGATG GTGATGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGAT GATGATGGTGGTGGTGATGGTGGTATTGATGGTGGTGGTAGTGGTGGTGG TGGTAATGGTGTTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGATGGTGATGGTGGTGCTGGTGATGGTGGTGCTGGTGATGA TGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTG ATGATGAAGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTTAT GGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGA TGATGATGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	492394	C C	CCCGGGAG others(1138): Show CCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGC CCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGC CCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTC CAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG GAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAG GGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCT TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGT CCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGGGCC CTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGG CCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0064 a0001c0001t0051g0064	1	295	0.0034	1145	c.126 others(1164): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCG CCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGG AGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGG GCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTT CCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCC GCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGC CCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGG CCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCC GGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCC CAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCC CTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGG CCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCA GGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCT TCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCC GTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCGGGA GACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGG CCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGA GGCCGTCCAGGGCCCTTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL6_chr9_136802948_136846187	136803214	T T	TGGGGCCC others(1138): Show TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC AGGGCCAGCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGT CAAGGTGAGCTCAGGGCCCAGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGCCCCCCAGGGCGGGCTC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0081 a0001c0003t0002g0081	1	330	0.0030	1145	c.-49 others(1156): Show c.-4983_-4982insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCAGGGCCAGCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGTCAAGGTGAGCTCAGGGCCCAGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGCC CCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4733		chr9	TogoVar
RIN3_chr14_92508781_92693994	92547356	T T	TATAAAAT others(1138): Show TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTTATTA TAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAAT AAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTA TCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTT ATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATA AAATAATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTA TCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTT ATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATA AAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAA ATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATC TTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTAT TATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAA ATAAATTATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTA TAAAATAATCTTTATTTTATTATTATAATAAATTATCTTTATTACA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0248 a0004c0018t0001g0248	1	334	0.0030	1145	c.45- others(1160): Show c.45-8367_45-8366insAAAATAAATTATCTTTTATTATAAAATAAA TTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCT TTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATT ATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAA TAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAATCT TTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATT ATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAA TAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATT ATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTT TATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTAT AAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATA AATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAAT CTTTATTTTATTATTATAATAAATTATCTTTATTACAATAAAATAAATTA TCTTTATTTTATTAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(1138): Show CATATATATATATATTCCATATATATATTCCATATATATATATATATTCC ATATATATATTCCATATATATATATATTCCATATATATATTCCATATATA TATATTCCATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATTCCATATATATATTCCATATATATATTCCATATATA TATATATTCCATATATATATTCCATATATATATTCCATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	324	0.0031	1145	c.115 others(1162): Show c.115-2706_115-2705insATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATGGAATATATATA TATATGGAATATATATATGGAATATATATATATATATGGAATATATATAT GGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SFMBT1_chr3_52898572_53051073	53001105	T T	TTCCAAGG others(1138): Show TTCCAAGGGCACAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGATTGTAAAGATATTTTATTTCTTAGAGACTTTCTAAGAAGGAAAAG GCATATAAGTAAATCTTATTAGACCTTCACTGTAAAGGACATATCATATT TATTCATACACATGCTGGAATTATTGGTGCAGACATTTAAATACATTTTC TTTGAGAAAGTCCTTTTTTTTTTTTTTTTTGATGGAGTTTCCCTCTTGTT GCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACAACAACCTCTGCC TCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATT ACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGA CGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGT GATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTACAGTCGTGAGCCA CCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTCTTTTTTTTTTTTTT TTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGG GATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAAC AAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCGGCCTTC CGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTC TTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCA CTGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGA GCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGG AATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTT TCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTT CCCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCCGTTCTCA ATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0226 a0001c0003t0001g0226	1	328	0.0031	1145	c.-13 others(1166): Show c.-130-31848_-130-31847insGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTG GGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGG CATTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGG ATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATT TTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGT GACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCA GGGTTAAATGGATTAAGGGCAGTGCAAGATGTGCTTTGTTAAACAGATGC TTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGT AATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGAA AACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTAT TGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTA TCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAGAAAAAAAAGAATG GACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGT GGCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCC TGACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCT GGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGC ACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAA AAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCAAT AATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAGTGAAGGT CTAATAAGATTTACTTATATGCCTTTTCCTTCTTAGAAAGTCTCTAAGAA ATAAAATATCTTTACAATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAATTGTGCCCTTGGA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(1138): Show ATATATATATAAATATATATAAATATATATTAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATAAATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATAAATATATATATAAATATA TATAAAATATATATATAAATATATATAAATATATATAAATATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATACATATATTATAAATATATATAAATATATAATACATAT ATAAATATATAAAAAATATATAAATATATAAAAAATATATAAATATATAA AAATATATATAAATATATATAAATATATATACATATATATACATATATAT AAATATATAAAAATATATAAATATATATAAATATAAATATATACAAATAT ATATATAAATATGTATAAATATATAAAAATATATATATAAATATATAAAA ATATATATATTAATATATAAAAATATATATATTAATATATAAAAATATAT ATAAATATATATATAAATATATATATATAAATATATATAAAAATATATAT AAAAATATATATAAATATATATAAATATATATAAATATATATAAATATAT ATAAATATATATAAATATATATAAATATATATATAAATATATATAAATAT ATATATAAATATATATAAACATATATAAATATATATAAAAATATATATAA ATATATATAAATATATATAAATATATATAAAAATATATATAAATATATAT ATAAATATATATAAATATATATATAAAATATATATAAATATATATAAATA TATAAAAAATATATATAAATATATAAATATATATATATAAATATATATAA ATATATAAAAAAAATATATATAAATATATATAAATATATTTATATATATA AATATATTTATATATAAATATAAATATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	186	0.0054	1145	c.-50 others(1156): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATTAAAT ATATATATAAATATATATAAATATATATAAATATATATATAAATATATAT AAATATATATAAATATATATATAAATATATATAAATATATATAAATATAT ATATAAATATATATAAATATATATAAATATATAAATATATATAAATATAT ATATAAATATATATAAATATATATATAAATATATATAAATATATATAAAT ATATATATAAATATATATAAATATATATAAATATATAAATATATATAAAT ATATATATAAATATATATAAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATACATATATTATAAATATATATAA ATATATAATACATATATAAATATATAAAAAATATATAAATATATAAAAAA TATATAAATATATAAAAATATATATAAATATATATAAATATATATACATA TATATACATATATATAAATATATAAAAATATATAAATATATATAAATATA AATATATACAAATATATATATAAATATGTATAAATATATAAAAATATATA TATAAATATATAAAAATATATATATTAATATATAAAAATATATATATTAA TATATAAAAATATATATAAATATATATATAAATATATATATATAAATATA TATAAAAATATATATAAAAATATATATAAATATATATAAATATATATAAA TATATATAAATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATAAACATATATAAATATATA TAAAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATATAAAATATATAT AAATATATATAAATATATAAAAAATATATATAAATATATAAATATATATA TATAAATATATATAAATATATAAAAAAAATATATATAAATATATATAAAT ATATTTATATATATAAATATATTTATATATAAATATAAATATATATAAAT ATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SPTLC3_chr20_13003972_13174103	13065907	T T	TCTTCCTT others(1138): Show TCTTCCTTTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTC AAGTATACAATATATTATTAACTACAGTCACCATGCTGTACATTAGGTCT CCAGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGT ATCCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTC TCTGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCA TATGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCA TCCATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGT GTATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGT TGTTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGT GCAAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAA GAAGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGG AACCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCA TCAGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTT TTAATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTT CATTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACC TGTTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTG CCCATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCT ACTGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAG ATATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT CTGTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATT CCATTTTTTGGTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTG TTTTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTT TCCCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00140.hp2 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0141 a0001c0001t0018g0090 a0001c0001t0001g0141 a0001c0001t0018g0090	2	292	0.0069	1145	c.304 others(1162): Show c.304-6276_304-6275insCAGTCACCATGCTGTACATTAGGTCTCC AGAAATTATTCATACTACATAATTGCAACGTTGTACCCTTTGACAAGTAT CCCCCTATTTTCACCATGCCCCCAGGCCTGGCAACCACCATTCTACTCTC TGCTCCTATGATTTCAATGTTTTTAGATTTCACACGTAAGTGAGATCATA TGGTATTTGTCTTTCTTATTTCCCTTAGTATAAAGTCCTCCAGATGCATC CATGTTGTTGCAAATGTCCTCTTTTAAGCCTGAAGGGTATTCCATTGTGT ATGAATACCATATTTCTTTATCCATTCATCTATGATGGACACTTGGGTTG TTTACATATCTTGTCTATTGTGAGTAATGCTACAATAAACACAGGAGTGC AAATATCTCTTGGAGATAGTGATGTCATTTACTTTGGATATACACCAAGA AGTGAGATTGCTACATCATATGGTAGTTCCATTTTTAAATTTTTTTGGAA CCTCCATATTGTTTTTCATAACGGCTTCATCAATTTACCTTCCCACCATC AGTGAACAAGAGTTCCCTTTTCTCCACAAGAGTTCTTTTCTTGTCTTTTT AATAAGGTCCATTCTCACAGATAAGAGGTGATTTCTCATTGTGGTTTTCA TTTGCATTTCCCTGATGATTTGTGACACTGACCTATTTTTAATATACCTG TTGGTCATTTGTATGTCTTTTTTGAGAAATATCTGTTTGGGTCTCTTGCC CATTTTTTAATCAAGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGCTAC TGAATTGTTTGGATTCCTTATGTATTCTGAGTAATAACACCTTATAAGAT ATATGGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGCCTCTTCACTCT GTTTATTATTTCCTTTGTTGTGAAGAAACTTTTTAATTTGATGCAATTCC ATTTTTTGGTTTTTTTTTTTTTTTTTGGTTTTGTTTTTGTTGCCTGTGTT TTGAGATCATAGCAAAAAATTCACTGCCCAGATCAATGTCAAGATTTTTC CCTAAGTTTCTTTCTAATAGTTTCACATAGTTACCTTTTTCTTCCTTCCT TTTTTTGGTGAGAACATTTAGGATCTACTTTCTTATTAATTTCAAGTATA CAATATATTATTAACTA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
TRIM44_chr11_35657775_35823007	35802003	G G	GAGTTTTT others(1138): Show GAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATACTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACATATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTTTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAAATGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0267 a0001c0001t0062g0267	1	392	0.0026	1145	c.100 others(1164): Show c.1008-4348_1008-4347insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTG CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGC TGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATACTATC CCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC TTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACATATGAGTGAGAA TATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGG TTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTT ATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCA GTCTATCATTTTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGA ATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGAT TTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGG TATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATG GTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCT CCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCAT TCTAAATGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTC TGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAA ATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGAT GGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTC TGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCAT TTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAA GCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCA TTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGA ATGGTAATGCCTAGTTTTT	TRIM44	ENSG00000166326.7	transcript	ENST00000299413.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 10000 hits)