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
VCX3A_chrX_6528618_6540118	6533404	T T	TCCTCCTC others(670): Show TCCTCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCTCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACTTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCTTCCTTCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCC CACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	74	0.0135	677	c.34 others(686): Show c.340_*341insGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGAAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAAGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		213		chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(670): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCC CTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	246	0.0041	677	c.-10 others(694): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCCCTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(670): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATTATATTATATATTATAAATAATATAT TATATATTATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATAAATAATATATTATATATTA TAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG04115.hp1 HG01361.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0049 a0001c0001t0014 a0001c0001t0049	a0001c0001t0014g0159 a0001c0001t0049g0158 a0001c0001t0014g0159 a0001c0001t0049g0158	2	302	0.0066	677	c.-1- others(694): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATAAAT AATATATTATATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(671): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTTTTTTTTTGAGATGGAGTTCTCTCTGTTCCC CAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGTGCCCGCCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC AGCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCACCGCGC CCGGCCAAAATCTAAACTCTTAAACTTGCCTTATAAAATTATTCCTGGCC GGGCGTCGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGAGGCA GGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTGACACGGTGAA ACGCCGTCTCTACTAAAAAATACAAAAAAAATTAGCCGGGCATGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AATCCGGGAGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp1 HG02109.hp1 others(1): Show HG00733.hp1 HG01256.hp1 HG02109.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0263 a0001c0001t0001g0266 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0318	4	396	0.0101	678	c.94- others(693): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAAAAAAAAAGAGTTTAGATT TTATTTACAGGAGGCATGAACATTTTATTTATTTATTTATTTATTTTGAG ATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACTN2_chr1_236681499_236769631	236714421	T T	TAACCACT others(671): Show TAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGA TATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACAC AGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACT GTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTC ACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGA CTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTG AAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGT ATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTC CTCACTGTGTGTTTATGTATACACAGATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0150 a0001c0006t0002g0150	1	344	0.0029	678	c.127 others(695): Show c.127-3436_127-3435insACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATAC ACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGAC TGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCA CTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTA TGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAP1_chr7_892900_959680	906607	G G	GGAGAAGA others(671): Show GGAGAAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAA AGGAGAAAGAAAGGAGAAAGGAGAAAGGGAGAAAGGAGAAAGGAGAAAGG AGAAAGGAGAAAGGAGAAAGGAAAGGAAGGAAAGGAGAAAGGAGAAAGGG AAAGGAGAAAGGAGAAAGGGAAGGAGAAAGGAGAAAGGAGAAAGGAGAAA GGAGAAAGGAGAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGG AGAAAGGAGAAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGA GAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAG AAGAAGGAGAAGGAAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGA GAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAGAAAGGAGAAAGGG AAAGGAGAAAGGAGAAAGGGGAAAGGGAAAGGAGAAAGGAGAAAGGGAAA GGAGAAAGGAGAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGA GAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGGAAA GGAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGA AAGGGAAAGGAGAAAGGAGAAAGGGGAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	14	0.0714	678	c.389 others(695): Show c.389-1436_389-1435insTTTCCCCTTTCTCCTTTCTCCTTTCCCT TTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTC CTTTCCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTT CTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCTCCTTTCTC CTTTCCCTTTCTCCTTTCTCCTTTCCCTTTCCCCTTTCTCCTTTCTCCTT TCCCTTTCTCCTTTCTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTT CTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTTCCTTCTCCTTCT TCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTT CTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCCCTTTTCTCCTTTC TCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCTCCTTTCTC CTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCCCTTTCTCCTTTCTCCTT TCCCTTTCTCCTTTCTCCTTTCCTTCCTTTCCTTTCTCCTTTCTCCTTTC TCCTTTCTCCTTTCTCCTTTCTCCCTTTCTCCTTTCTCCTTTCTTTCTCC TTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(671): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCGTCCACTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCATCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCACTCATCCATCCACCCATCCATTCATCCATTCACCCACCCATTTA CCTACCCATTAATTCACCCACCCTTCCACCACCCACCCACCCATCCATAT ACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCACCCACCCAT TCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATT CACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0069 a0002c0002t0069	a0002c0002t0069g0058 a0002c0002t0069g0058	1	262	0.0038	678	c.775 others(693): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAGTGGACGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGG GTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTG GAAGGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGG TGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(671): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCGCC CACCCATTCATCCATCCACCCATCCATTCATCCATTCGCCCACCCATTTA CCTACCCATTAATTCACCCACCCTTCCACCACCCACCCACCCATCCATAT ACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCACCCACCCAT TCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATT CACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0035 a0003c0003t0009g0035	1	262	0.0038	678	c.775 others(693): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GCGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGG GTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTG GAACGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGG TGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(671): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGA GGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAG GGGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGG GGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGG GGAGGGGGAGGCGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGG GAAGGTGGGGAAGGAAAGTGAGTGCAGAGGGGAAGGCGAGGGGAAGGCGA GGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAG GGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGG GGGAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19005.hp2 NA19056.hp1 NA18980.hp1 NA19005.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0097	3	350	0.0086	678	c.248 others(693): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCTGCACTCACTTTCCTTCCCCACCTTCC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCC CCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCC CTCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCC TCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCT CCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTC CCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCGTCGAC TCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCC CCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTC CCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCC TCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
C2CD4C_chr19_400445_414147	410916	G G	TGGGGTCT others(671): Show TGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCA CCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGG GCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGG GGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACC GCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC CCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGT CTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGA GCTGGGAGGAGGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTTGGGGTCTG TCCACCGCCCCTGCTGGGCACGGATCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	322	0.0031	678	c.-19 others(689): Show c.-1951_-1950insAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACC CCAAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTT CCCAGCAGGGGCGGTGGACAGACCCCCAGGACCCTCCTCCCAGCTCGGGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGG TGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCC AGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCC AGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTG GACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAG GATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1769		chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(671): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCACCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCATCACCACCA CCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACC ACCAACATCATCATCATCACCACCACCACCACCATCAACACCACCATCAT CATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02056.hp2 HG02074.hp1 others(2): Show HG00673.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0014 a0001c0001t0002g0036	5	376	0.0133	678	c.63+ others(691): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGATGATGATGTTGGTGGT GGTGCTGGTGGTGATGGTGATGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTGGT GGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGT GGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGATGGT GATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCT GGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGA TGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTG GTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGT GAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGT GAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGAT GATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(671): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATTTATATATATATAAGTATATATATATAAAA TTATATATATAATTATATATATATTATATATAATTATATATAATTATATA TATAATTTTATATATATAATTATATATATTTATATATATATATAATTATA TATATTTATATATATATATAATTATATATATATATAAAATTATATATATA ATTATATATATATTATATATAATTATATATATTATATTATATATAATTTT ATATATATAATTATATATATAATTTTATATATATAATTTTATATATATAA TTTTATATATATAATTTTATATATATAATTATATATATAATTTTATATAT ATATAATTATATATATAATTTTATATATATATAATTATATATATAATTTT ATATATATATAATTATATATATATAATTTTATATATATATAATTATATAT ATAATTTTATATATATATAATTATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0104 a0002c0002t0003g0104	1	330	0.0030	678	c.907 others(693): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAA ATTATATATATAATTATATATATATAAAATTATATATATAATTATATATA TAAAATTATATATATAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATATAAAATTATATATATATAATTATATATATATA AAATTATATATATAATTATATATATATAAAATTATATATATAATTATATA TATATAAAATTATATATATAATTATATATATAAAATTATATATATAAAAT TATATATATAAAATTATATATATAAAATTATATATATAATTATATATATA AAATTATATATAATATAATATATATAATTATATATAATATATATATAATT ATATATATAATTTTATATATATATATAATTATATATATATATAAATATAT ATAATTATATATATATATAAATATATATAATTATATATATAAAATTATAT ATATAATTATATATAATTATATATAATATATATATAATTATATATATAAT TTTATATATATATACTTATATATATATAAATATATATAATTATATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181959	A A	ACACATAC others(671): Show ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACACACACTCACATACAGACACA ACCACACCACACACACACACACATACAGACACAACCACACCACACACACA CATACACACTCACATACAGACACAACCACACCACACACACACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACACACACACTCA CATACAGACACAACCACACCACACACACACACACACATACAGACACAACC ACACCACACACACACACACACATACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG06807.hp2 HG02622.hp2 HG02896.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0128 a0003c0003t0003g0228 a0003c0003t0003g0308 a0003c0003t0003g0128 a0003c0003t0003g0228 a0003c0003t0003g0308	3	460	0.0065	678	c.193 others(695): Show c.1938+643_1938+644insTACACACTCACATACAGACACAACCACA CCACACTCACACACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CATACACACTCACATACAGACACAACCACACCACACTCACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACATACAGACACA ACCACACCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACACACTCACATACAGACACAACCACACCACACACACACACA CACATACAGACACAACCACACCACACACACACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACTCACATACAGACA CAACCACACCACACTCACACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC183_chr9_136791338_136812741	136802779	A A	AGGTCAAG others(671): Show AGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0002 a0023c0036t0002	a0023c0036t0002g0030 a0023c0036t0002g0030	1	398	0.0025	678	c.666 others(691): Show c.666+88_666+89insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTC CAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803282	T T	TGGGGCCC others(671): Show TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0065	1	398	0.0025	678	c.666 others(693): Show c.666+511_666+512insCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC TCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC6_chr10_59783747_59911556	59882003	T T	TGGGGAGA others(671): Show TGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAG GAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGG GGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCA GGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGAAAAGCCGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0101 a0001c0005t0004g0101	1	288	0.0035	678	c.303 others(697): Show c.303+24118_303+24119insGCGGCTTTTCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCT TTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTT CTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCC CC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CD2AP_chr6_47472789_47632263	47505616	G G	GGGGGGCC others(671): Show GGGGGGCCGACCCCCCCCACCTCCCTCCCTGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCTC CCTCCTGGACAGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0133 a0001c0001t0014g0133	1	322	0.0031	678	c.165 others(695): Show c.165+2181_165+2182insCCGACCCCCCCCACCTCCCTCCCTGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGG GCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGG CTGACACCCCCACCTCCCTCCTGGACAGGGCAGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAG ACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGA CAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGC GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505616	G G	GGGGGGCC others(671): Show GGGGGGCCGACCCCCCCCACCTCCCTCCCTGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCTC CCTCCTGGACAGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0298 a0001c0001t0059g0298	1	322	0.0031	678	c.165 others(695): Show c.165+2181_165+2182insCCGACCCCCCCCACCTCCCTCCCTGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGG GCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGG CTGACACCCCCACCTCCCTCCTGGACAGGGCAGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGC CGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCA GACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGG ACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGG CGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505616	G G	GGGGGGCC others(671): Show GGGGGGCCGACCCCCCCCACCTCCCTCCCTGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCT CCCTCCTGGACAGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02895.hp2 HG02135.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0079 a0001c0001t0004 a0001c0001t0079	a0001c0001t0004g0136 a0001c0001t0079g0104 a0001c0001t0004g0136 a0001c0001t0079g0104	2	322	0.0062	678	c.165 others(695): Show c.165+2181_165+2182insCCGACCCCCCCCACCTCCCTCCCTGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGG GCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGG GCTGACACCCCCACCTCCCTCCTGGACAGGGCAGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCA GACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGG ACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGG CGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505616	G G	GGGGGGCC others(671): Show GGGGGGCCGACCCCCCCCCACCTCCCTCCCTGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCT CCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCT GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0207 a0001c0001t0080g0207	1	322	0.0031	678	c.165 others(695): Show c.165+2181_165+2182insCCGACCCCCCCCCACCTCCCTCCCTGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGG GCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCA GACGGGGCGGCTGGCTGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGG ACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGG CGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CROCC2_chr2_240901336_240998311	240924810	G G	GCCCCCCA others(671): Show GCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCTCACACTA ACCCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACT GACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACA CTAACCCGGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCC ACACTAACCCGGCCCCTCACACTAACCCGGCCCCTCACACTAACCCAGCC CCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGC CCCCACACTAACCCGGCCCCTCACACTGACCCGGCCCCCCACACTAACCC GGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCTCACACTAAC CCGGCCCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCACACTA ACCCGGCCCCTCACACTAACCCGGCCCCTCACACTAACCCAGCCCCCACA CTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCAC ACTAACCCGGCCCCTCACACTGACCCGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0204 a0006c0007t0001g0204	1	350	0.0029	678	c.489 others(693): Show c.489-909_489-908insCACACTAACCCGGCCCCCACACTAACCCGG CCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCC GGCCCCTCACACTAACCCAGCCCCCACACTGACCCGGCCCCCACACTGAC CCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGA CCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACA CTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCTC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCC CACACTGACCCGGCCCCCACACTAACCCGGCCCCTCACACTGACCCGGCC CCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGG CCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAATC CGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCTCACACTA ACCCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACT GACCCAGCCCCCACACTAACCCGGCCCCTCACACTGACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251096	A A	ACACCCCC others(671): Show ACACCCCCCACACCCCCCACACATCCCCCACACCGCCCACATCCCCCACA CCCCCCACATCCCCCACATCCCCCACACCCCCCACACCCCCCCACACCCC CCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCA CACCCCCACATCCCCACACCCCCCACATCCCCCACACCCCCCACACCCCC ACATCCCCCCACACCCCCCCACCCCCCCACACCCCCCACACATCCCCCAC ACCCCCCACATCCCCCCACACCCCCCACATCCCCCACACCCCCACATCCC CCACACCCCCCACACCCCCCACACCCCCCACACATCCCCCACACCCCCCA CATCCCCCACACCCCCCACATCCCCCACATCCCCCACACCCCCCACACCC CCCACACCACACACCCCCACATCCCCCACATCCCCCACATCCCCCACACC CCCCACACATCCCCCACCCCCCCACACCCCCCCACACCCCCCACATCCCC CACACCCCCCACATCCCCCACACCCCCCCACATCCCCCACACCCCCCACA CCACACACCCCCACATCCCCCACATCCCCCACATCCCCCACACCCCCCAC ACATCCCCCACACCCCCCACATCCCCACACCCCCCACATCCCCCACACCC CCCACATCCCCCACACCCCCCACACCCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	116	0.0086	678	c.207 others(697): Show c.2073+1415_2073+1416insCCCCCACACCCCCCACACATCCCCCA CACCGCCCACATCCCCCACACCCCCCACATCCCCCACATCCCCCACACCC CCCACACCCCCCCACACCCCCCACACATCCCCCACACCCCCCACATCCCC CACACCCCCCACATCCCCCACACCCCCACATCCCCACACCCCCCACATCC CCCACACCCCCCACACCCCCACATCCCCCCACACCCCCCCACCCCCCCAC ACCCCCCACACATCCCCCACACCCCCCACATCCCCCCACACCCCCCACAT CCCCCACACCCCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCA CACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACAT CCCCCACACCCCCCACACCCCCCACACCACACACCCCCACATCCCCCACA TCCCCCACATCCCCCACACCCCCCACACATCCCCCACCCCCCCACACCCC CCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCCA CATCCCCCACACCCCCCACACCACACACCCCCACATCCCCCACATCCCCC ACATCCCCCACACCCCCCACACATCCCCCACACCCCCCACATCCCCACAC CCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACACCCCCC AC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DEAF1_chr11_639233_700222	665147	G G	GTCCTGGC others(671): Show GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTAAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCG GTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGG GCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAG GAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTAT TCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCC TGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGT CACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGC GTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGA GGAGGACAGGGCGTCACACTCGGTCACTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	345	0.0029	678	c.150 others(697): Show c.1503+9388_1503+9389insGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCC AGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTG AATAGCTGAGCCAGGACTTAGAGTGACCGAGTGTGACGCCCTGTCCTCCT CCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACG CCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGA CCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAG GA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	665147	G G	GTCCTGGC others(671): Show GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCG GTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGG GCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAG GAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTAT TCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCC TGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGT CACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGC GTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGA GGAGGACAGGGCGTCACACTCGGTCACTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp1 others(84): Show HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19082.hp1 NA19085.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0001c0009 others(2): Show a0001c0001 a0001c0006 a0001c0009 a0001c0011 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0033 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0006t0001g0019 a0001c0006t0001g0080 a0001c0006t0001g0105 a0001c0006t0001g0106 a0001c0006t0001g0117 a0001c0009t0001g0063 a0001c0009t0001g0137 a0001c0011t0001g0085 a0005c0010t0001g0084	87	345	0.2522	678	c.150 others(697): Show c.1503+9388_1503+9389insGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCC AGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTG AATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCT CCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACG CCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGA CCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAG GA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DYSF_chr2_71448561_71691763	71618390	T T	TGTGTGTG others(671): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTG TGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT AGAGGTGTGGTGTGTGTGTGGTAGAGGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01074.hp1 others(4): Show HG00642.hp1 HG00735.hp2 HG01074.hp1 HG01109.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0025 a0001c0001 a0001c0003 a0001c0025	a0001c0001t0001 a0001c0003t0001 a0001c0025t0001 a0001c0001t0001 a0001c0003t0001 a0001c0025t0001	a0001c0001t0001g0088 a0001c0003t0001g0111 a0001c0003t0001g0113 others(4): Show a0001c0001t0001g0088 a0001c0003t0001g0111 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0121 a0001c0003t0001g0131 a0001c0025t0001g0115	7	192	0.0365	678	c.441 others(697): Show c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71618390	T T	TGTGTGTG others(671): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGTGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTG TGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT AGAGGTGTGGTGTGTGTGTGGTAGAGGTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	192	0.0052	678	c.441 others(697): Show c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGTGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618390	T T	TGTGTGTG others(671): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTG TGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT AGAGGTGTGGTGTGTGTGTGGTAGAGGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01074.hp2 others(5): Show HG00642.hp2 HG00735.hp2 HG01074.hp2 HG01109.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0025 a0001c0001 a0001c0003 a0001c0025	a0001c0001t0001 a0001c0003t0001 a0001c0025t0001 a0001c0001t0001 a0001c0003t0001 a0001c0025t0001	a0001c0001t0001g0106 a0001c0003t0001g0006 a0001c0003t0001g0008 others(5): Show a0001c0001t0001g0106 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0039 a0001c0003t0001g0065 a0001c0003t0001g0076 a0001c0025t0001g0012	8	208	0.0385	678	c.446 others(697): Show c.4465-2144_4465-2143insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618390	T T	TGTGTGTG others(671): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGTGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTG TGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT AGAGGTGTGGTGTGTGTGTGGTAGAGGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	208	0.0048	678	c.446 others(697): Show c.4465-2144_4465-2143insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGTGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(671): Show GTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGAGG TGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0246 a0001c0003t0005g0247 a0001c0003t0005g0246 a0001c0003t0005g0247	2	288	0.0069	678	c.190 others(697): Show c.1909+7365_1909+7366insAGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGAGGT GGTGATGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331759	A A	ATACCACC others(671): Show ATACCACCATGGTGTATATATAAATATATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATAT ATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18983.hp2 NA18966.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0205 a0001c0001t0005g0206	2	334	0.0060	678	c.-10 others(697): Show c.-10-18621_-10-18620insACCACCATGGTGTATATATAAATATA TATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCA CCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATAT AAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATA CACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTA TATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATAT ATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTG GTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAA TATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCA CCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATAT AAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATA CACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTA TATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATAT ATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTG GT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331759	A A	ATACCACC others(671): Show ATACCACCATGGTGTATATATAAATATATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATAT ATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACGGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	334	0.0030	678	c.-10 others(697): Show c.-10-18621_-10-18620insACCACCATGGTGTATATATAAATATA TATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCA CCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATAT AAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATA CACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTA TATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATAT ATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTG GTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAA TATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCA CCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATAT AAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATA CACCACCGTGGTGTATATATAAAAATATATATATACACCACGGTGGTGTA TATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATAT ATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTG GT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLT3_chr13_27998274_28105576	27999113	A A	AACATATA others(671): Show AACATATATTTATATATAAATATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATATATATATATGTA TATGTATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATTTACATACATATAAATATATATTTACATACATATAAATATATA CATTTATATACATATAAATATATATTTACATACATATAAATATATACATT TATATACATATAAATATATACATATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATATATTTATATATATATAAATATATATA TATTTGTATATATATATAAATATATATATATTTATATAATTATATACATA TAAATATATAATTATATACATATAAATATATATAATTATATACATATAAA TATATATTTATATACATATAAATTTATATACATATAAATATAAATATTTA TATTTATATACATATAAATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0011 a0001c0004t0002g0011	1	292	0.0034	678	c.49 others(689): Show c.4938_*4939insAAATATATATATTTATATGTATATAAATATAAAT ATTTATATTTATATGTATATAAATTTATATGTATATAAATATATATTTAT ATGTATATAATTATATATATTTATATGTATATAATTATATATTTATATGT ATATAATTATATAAATATATATATATTTATATATATATACAAATATATAT ATATTTATATATATATAAATATATATAAATATATATATTTATATGTATAT AAATATATATTTATATGTATATATGTATATATTTATATGTATATAAATGT ATATATTTATATGTATGTAAATATATATTTATATGTATATAAATGTATAT ATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTAT ATGTATATAAATATATATATTTATATGTATATAAATATATATTTATATGT ATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATAT AAATATATATTTATATGTATATAAATATATATATTTATATACATATACAT ATATATATATATACATATAAATATATATATTTATATACATATAAATATAT ATATTTATATACATATAAATATATATATTTATATACATATAAATATATAT ATTTATATACATATAAATATATATATTTATATATAAATATATGT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4160		chr13	TogoVar
FMN2_chr1_240086883_240480187	240185033	C C	CCCCTTCT others(671): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT TCCCCTTCTCTTTCTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0026 a0026	a0026c0042 a0026c0042	a0026c0042t0001 a0026c0042t0001	a0026c0042t0001g0004 a0026c0042t0001g0004	1	174	0.0058	678	c.193 others(697): Show c.1931-3171_1931-3170insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXK2_chr17_82514732_82609602	82586402	G G	GGGGGGGG others(671): Show GGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGG GGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGGAATGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGAATGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAATGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGAATGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0005 a0012c0014t0005	a0012c0014t0005g0235 a0012c0014t0005g0235	1	308	0.0033	678	c.157 others(695): Show c.1576+208_1576+209insGAATGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCCGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGG TCAAAGGTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC GGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGG GGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGCCTG others(671): Show GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0279 a0001c0001t0036g0279	1	384	0.0026	678	c.467 others(693): Show c.467-946_467-945insCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GREB1_chr2_11529045_11647788	11637073	G G	GGGGCAGG others(671): Show GGGGCAGGGGCAGAGGCAGGGAAATGGGCAGAGGCAGGGGCAGAGGCAGG GGCAGGGACAGGGGCAGGGACAGAGGCAGGGACATGGGCAGAGGCAGGGA CAGAGGCAGGGGCAGGGACAGAGGCAGGGGCAGGGGCAGAGGCAGGGACA TGGGCAGAGGCAGGGGCAGAGGCAGGGACATGGGCAGAGGCACAGGCAGG GGCATGGACAGGGACTTGGGCAGGGGCAGAGGCAGGGGCAGGGACAGAGG CAGGGGCACAGGCAAGGGCAGGGGCAGGGGCAGAGGCAGAGGCAGGGACA GAGGCAGGGACAGGGACATGGGCAGAGGCAGGGACAGAGGCAGGGGCAGA GGCAGAGGCAGGGACAGAGGCAGGGGCAGAGGCAGGGGCAGGGACATGGG CAGGGACAGAGGCAGAGGCAGGGACATAGGCAGGGACAGAGGCAGGGGCA GGGACATGAGCAGGGACAGAGGCAGGCGCAGGGACATGGGCAGGGACAGA GGTAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGGGCACGGGCAGGGG CATGGGCAGGGGCAGGGACAGAGGCAGGCGCAGGGACATGGGCACGGGCA GGGACAGAGGCAGGGGCAGGGACATGGGCAGGGGCAGAGGCAGGGGCAGG GACATGGGCAGGGACAGAGGCAGGAGCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00733.hp2 others(37): Show HG00408.hp1 HG00423.hp2 HG00733.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG02071.hp1 HG02135.hp2 HG02602.hp1 HG02698.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03669.hp1 HG04228.hp2 NA18941.hp1 NA18942.hp1 NA18950.hp1 NA18959.hp2 NA18966.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19004.hp2 NA19011.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19088.hp1 NA19091.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0004 a0005 a0006 others(7): Show a0004 a0005 a0006 a0009 a0011 a0029 a0036 a0040 a0045 a0047	a0004c0004 a0004c0026 a0004c0082 others(11): Show a0004c0004 a0004c0026 a0004c0082 a0005c0002 a0006c0014 a0006c0027 a0009c0019 a0009c0030 a0011c0008 a0029c0095 a0036c0041 a0040c0072 a0045c0090 a0047c0077	a0004c0004t0002 a0004c0004t0004 a0004c0004t0011 others(17): Show a0004c0004t0002 a0004c0004t0004 a0004c0004t0011 a0004c0026t0004 a0004c0026t0013 a0004c0082t0002 a0005c0002t0003 a0005c0002t0010 a0005c0002t0013 a0006c0014t0003 a0006c0014t0005 a0006c0027t0003 a0009c0019t0012 a0009c0030t0003 a0011c0008t0003 a0029c0095t0003 a0036c0041t0003 a0040c0072t0058 a0045c0090t0013 a0047c0077t0002	a0004c0004t0002g0183 a0004c0004t0002g0230 a0004c0004t0002g0237 others(37): Show a0004c0004t0002g0183 a0004c0004t0002g0230 a0004c0004t0002g0237 a0004c0004t0002g0281 a0004c0004t0004g0197 a0004c0004t0004g0198 a0004c0004t0004g0239 a0004c0004t0004g0242 a0004c0004t0004g0244 a0004c0004t0004g0289 a0004c0004t0011g0211 a0004c0026t0004g0290 a0004c0026t0013g0204 a0004c0082t0002g0216 a0005c0002t0003g0001 a0005c0002t0003g0082 a0005c0002t0003g0098 a0005c0002t0003g0116 a0005c0002t0003g0117 a0005c0002t0003g0118 a0005c0002t0003g0151 a0005c0002t0003g0152 a0005c0002t0003g0156 a0005c0002t0010g0100 a0005c0002t0010g0123 a0005c0002t0010g0124 a0005c0002t0013g0187 a0005c0002t0013g0188 a0006c0014t0003g0054 a0006c0014t0005g0039 a0006c0027t0003g0272 a0009c0019t0012g0161 a0009c0030t0003g0169 a0011c0008t0003g0027 a0011c0008t0003g0297 a0029c0095t0003g0038 a0036c0041t0003g0091 a0040c0072t0058g0111 a0045c0090t0013g0243 a0047c0077t0002g0174	40	308	0.1299	678	c.534 others(695): Show c.5347-623_5347-622insAAATGGGCAGAGGCAGGGGCAGAGGCAG GGGCAGGGACAGGGGCAGGGACAGAGGCAGGGACATGGGCAGAGGCAGGG ACAGAGGCAGGGGCAGGGACAGAGGCAGGGGCAGGGGCAGAGGCAGGGAC ATGGGCAGAGGCAGGGGCAGAGGCAGGGACATGGGCAGAGGCACAGGCAG GGGCATGGACAGGGACTTGGGCAGGGGCAGAGGCAGGGGCAGGGACAGAG GCAGGGGCACAGGCAAGGGCAGGGGCAGGGGCAGAGGCAGAGGCAGGGAC AGAGGCAGGGACAGGGACATGGGCAGAGGCAGGGACAGAGGCAGGGGCAG AGGCAGAGGCAGGGACAGAGGCAGGGGCAGAGGCAGGGGCAGGGACATGG GCAGGGACAGAGGCAGAGGCAGGGACATAGGCAGGGACAGAGGCAGGGGC AGGGACATGAGCAGGGACAGAGGCAGGCGCAGGGACATGGGCAGGGACAG AGGTAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGGGCACGGGCAGGG GCATGGGCAGGGGCAGGGACAGAGGCAGGCGCAGGGACATGGGCACGGGC AGGGACAGAGGCAGGGGCAGGGACATGGGCAGGGGCAGAGGCAGGGGCAG GGACATGGGCAGGGACAGAGGCAGGAGCACGGGCAGGGGCAGAGGCAGGG	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11637073	G G	GGGGCAGG others(671): Show GGGGCAGGGGCAGAGGCAGGGAAATGGGCAGAGGCAGGGGCAGAGGCAGG GGCAGGGACAGGGGCAGGGACAGAGGCAGGGACATGGGCAGAGGCAGGGA CAGAGGCAGGGGCAGGGACAGAGGCAGGGGCAGGGGCAGAGGCAGGGACA TGGGCAGAGGCAGGGGCAGAGGCAGGGACATGGGCAGAGGCACAGGCAGG GGCATGGACAGGGACTTGGGCAGGGGCAGAGGCAGGGGCAGGGACAGAGG CAGGGGCACAGGCAAGGGCAGGGGCAGGGGCAGAGGCAGAGGCAGGGACA GAGGCAGGGACAGGGACATGGGCAGAGGCAGGGACAGAGGCAGGGGCAGA GGCAGAGGCAGGGACAGAGGCAGGGGCAGAGGCAGGGGCAGGGACATGGG CAGGGACAGAGGCAGAGGCAGGGACATAGGCAGGGACAGAGGCAGGGGCA GGGACATGAGCAGGGACAGAGGCAGGCGCAGGGACATGGGCAGGGACAGA GGTAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGGGCACGGGCAGGGG CATGGGCAGGGGCAGGGACAGAGGCAGGCGCAGGGACATGGGCACGGGCA GGGACAGGGGCAGGGGCAGGGACATGGGCAGGGGCAGAGGCAGGGGCAGG GACATGGGCAGGGACAGAGGCAGGAGCAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18989.hp2 NA18939.hp1 NA18989.hp2	a0003 a0049 a0003 a0049	a0003c0003 a0049c0081 a0003c0003 a0049c0081	a0003c0003t0001 a0049c0081t0002 a0003c0003t0001 a0049c0081t0002	a0003c0003t0001g0155 a0049c0081t0002g0199 a0003c0003t0001g0155 a0049c0081t0002g0199	2	308	0.0065	678	c.534 others(695): Show c.5347-623_5347-622insAAATGGGCAGAGGCAGGGGCAGAGGCAG GGGCAGGGACAGGGGCAGGGACAGAGGCAGGGACATGGGCAGAGGCAGGG ACAGAGGCAGGGGCAGGGACAGAGGCAGGGGCAGGGGCAGAGGCAGGGAC ATGGGCAGAGGCAGGGGCAGAGGCAGGGACATGGGCAGAGGCACAGGCAG GGGCATGGACAGGGACTTGGGCAGGGGCAGAGGCAGGGGCAGGGACAGAG GCAGGGGCACAGGCAAGGGCAGGGGCAGGGGCAGAGGCAGAGGCAGGGAC AGAGGCAGGGACAGGGACATGGGCAGAGGCAGGGACAGAGGCAGGGGCAG AGGCAGAGGCAGGGACAGAGGCAGGGGCAGAGGCAGGGGCAGGGACATGG GCAGGGACAGAGGCAGAGGCAGGGACATAGGCAGGGACAGAGGCAGGGGC AGGGACATGAGCAGGGACAGAGGCAGGCGCAGGGACATGGGCAGGGACAG AGGTAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGGGCACGGGCAGGG GCATGGGCAGGGGCAGGGACAGAGGCAGGCGCAGGGACATGGGCACGGGC AGGGACAGGGGCAGGGGCAGGGACATGGGCAGGGGCAGAGGCAGGGGCAG GGACATGGGCAGGGACAGAGGCAGGAGCACGGGCAGGGGCAGAGGCAGGG	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11637073	G G	GGGGCAGG others(671): Show GGGGCAGGGGCAGAGGCAGGGAAATGGGCAGAGGCAGGGGCAGAGGCAGG GGCAGGGACAGGGGCAGGGACAGAGGCAGGGACATGGGCAGAGGCAGGGA CAGAGGCAGGGGCAGGGACAGAGGCAGGGGCAGGGGCAGAGGCAGGGACA TGGGCAGAGGCAGGGGCAGAGGCAGGGACATGGGCAGAGGCACAGGCAGG GGCATGGACAGGGACTTGGGCAGGGGCAGAGGCAGGGGCAGGGACAGAGG CAGGGGCACAGGCAAGGGCAGGGGCAGGGGCAGAGGCAGAGGCAGGGACA GAGGCAGGGACAGGGACATGGGCAGAGGCAGGGACAGAGGCAGGGGCAGA GGCAGAGGCAGGGACAGAGGCAGGGGCAGAGGCAGGGGCAGGGACATGGG CAGGGACAGAGGCAGAGGCAGGGACATAGGCAGGGACAGAGGCAGGGGCA GGGACATGAGCAGGGACAGAGGCAGGCGCAGGGACATGGGCAGGGACAGA GGTAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGGGCACGGGCAGGGG CATGGGCAGGGGCAGGGACAGAGGCAGGTGCAGGGACATGGGCACGGGCA GGGACAGAGGCAGGGGCAGGGACATGGGCAGGGGCAGAGGCAGGGGCAGG GACATGGGCAGGGACAGAGGCAGGAGCAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0215 a0004c0004t0002g0215	1	308	0.0033	678	c.534 others(695): Show c.5347-623_5347-622insAAATGGGCAGAGGCAGGGGCAGAGGCAG GGGCAGGGACAGGGGCAGGGACAGAGGCAGGGACATGGGCAGAGGCAGGG ACAGAGGCAGGGGCAGGGACAGAGGCAGGGGCAGGGGCAGAGGCAGGGAC ATGGGCAGAGGCAGGGGCAGAGGCAGGGACATGGGCAGAGGCACAGGCAG GGGCATGGACAGGGACTTGGGCAGGGGCAGAGGCAGGGGCAGGGACAGAG GCAGGGGCACAGGCAAGGGCAGGGGCAGGGGCAGAGGCAGAGGCAGGGAC AGAGGCAGGGACAGGGACATGGGCAGAGGCAGGGACAGAGGCAGGGGCAG AGGCAGAGGCAGGGACAGAGGCAGGGGCAGAGGCAGGGGCAGGGACATGG GCAGGGACAGAGGCAGAGGCAGGGACATAGGCAGGGACAGAGGCAGGGGC AGGGACATGAGCAGGGACAGAGGCAGGCGCAGGGACATGGGCAGGGACAG AGGTAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGGGCACGGGCAGGG GCATGGGCAGGGGCAGGGACAGAGGCAGGTGCAGGGACATGGGCACGGGC AGGGACAGAGGCAGGGGCAGGGACATGGGCAGGGGCAGAGGCAGGGGCAG GGACATGGGCAGGGACAGAGGCAGGAGCACGGGCAGGGGCAGAGGCAGGG	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GTPBP6_chrX_299759_323796	309871	T T	TGAAATGA others(671): Show TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGT GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC AGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTG GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC AGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGGCCCCCACAAAA GACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTG GAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATC ATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGA GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG AGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGA GCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGG ATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCAT GTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTC TCTGCAGATGTGATTAAGTGGAAGATCTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	155	0.0065	678	c.112 others(697): Show c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT GTCTCTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAG GATGATCTCATTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGT TTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAG GTCTTTTGTGGGGGCCACGGTTCACTTCACTTCAGTTGGATCCAGTTCCC TCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGG CTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTG TCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAG GACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATT TC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	7/9			chrX	TogoVar
HCN2_chr19_584881_622159	602222	C C	CCCTCCTC others(671): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC TCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp1 HG01891.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0004 a0001c0020t0008 a0001c0003t0004 a0001c0020t0008	a0001c0003t0004g0012 a0001c0020t0008g0013 a0001c0003t0004g0012 a0001c0020t0008g0013	2	408	0.0049	678	c.633 others(695): Show c.633-1097_633-1096insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(671): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCTCCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCCTCCTCTCCCTCTCTCTCTCCCCCTC CTTCCCTCTCTCTCTCCCCCTCCTTCCCCTCTCTCTCTCCCCCTCCCTTC CCTCTCTCTCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCCTCCT TCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCT CCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCTCCCCTCCCCTCTCCCCCTCCCTCCCTCCCCCTCCCCTCCCC TCCCCCTCTCTGTCCCCCCTCCCCCTCCCTCCCTCTCCCTCCCCCTCCCC CCTATCCCCCTCCCCCGTATCCCCTCCCTCCCCCTCCCCCCATCCCCCTC CCCCTCATCCCCTCCCCCCTCCTTCCCTCTCCCCCTCCCCTCTTCCCTCT CTCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCC CCCCTCCTTCCCTCTCTCTCTTCCACTCCTCTTTACTTCTCCCTTCCTCC TTCCATCTCTGTTCCTCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTC CCTCTCTCTCTCTCCCCCTCCTTCCCCTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0031 a0004c0014t0031	a0004c0014t0031g0150 a0004c0014t0031g0150	1	158	0.0063	678	c.11 others(699): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCTCCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTCTCC CTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCCTCTC TCTCTCCCCCTCCCTTCCCTCTCTCTCCTCCCCCTCCTTCCCTCTCTCTC TCCCCCTCCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCT CTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCTCCCCTCCCCTCTCCCCCTCCCTCC CTCCCCCTCCCCTCCCCTCCCCCTCTCTGTCCCCCCTCCCCCTCCCTCCC TCTCCCTCCCCCTCCCCCCTATCCCCCTCCCCCGTATCCCCTCCCTCCCC CTCCCCCCATCCCCCTCCCCCTCATCCCCTCCCCCCTCCTTCCCTCTCCC CCTCCCCTCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCC TCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTTCCACTCCTCTT TACTTCTCCCTTCCTCCTTCCATCTCTGTTCCTCCCCCCTCCTTCCCTCT GTCTCTCTCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCTGTCTC TCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(671): Show CAAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAG CTCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGA TGGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACT AAAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAAC AATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATG TTTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAA TTCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTT GAGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGC AGTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGAT CATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTG TAATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGA AGGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAG CAAGGCTCTGTCTAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0116 a0001c0006t0001g0116	1	286	0.0035	678	c.52 others(689): Show c.5260_*5261insTTTTTTTTTTTTTTTTAGACAGAGCCTTGCTCTG GCTGGAATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGG GTTCAAGTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGT GCATGTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGT TTCACCATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCA CCCGTTCGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACC CAGCCTACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGC AGAGTTCCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCA AACTGAACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGC CACTTATCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCA TGTATAACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTC ATCCAGTTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCAT ACTGTCCTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTC TGATCATCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(671): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCA AACACACATACATCTCCAAACACACACACACCTAACACACGCACCTAACA CACACTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAACA CACACACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCAAA CACACACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAAA CACACACACCTCAAAACACACACACCTCAAAACACACACACCTCCAAAAA CACACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(74): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01346.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02622.hp2 HG02738.hp2 HG02809.hp2 HG02970.hp1 HG03017.hp1 HG03471.hp1 HG03491.hp1 HG03669.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18962.hp2 NA18963.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0012	a0001c0001 a0001c0014 a0001c0020 others(7): Show a0001c0001 a0001c0014 a0001c0020 a0002c0002 a0002c0006 a0002c0023 a0003c0004 a0004c0033 a0005c0007 a0012c0027	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0014t0004 a0001c0020t0001 a0002c0002t0002 a0002c0002t0003 a0002c0006t0002 a0002c0023t0002 a0003c0004t0001 a0004c0033t0003 a0005c0007t0004 a0012c0027t0001	a0001c0001t0001g0093 a0001c0001t0001g0114 a0001c0001t0001g0118 others(74): Show a0001c0001t0001g0093 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0095 a0001c0001t0005g0031 a0001c0014t0004g0040 a0001c0020t0001g0155 a0002c0002t0002g0116 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0130 a0002c0002t0002g0142 a0002c0002t0002g0152 a0002c0002t0002g0243 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0258 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0048 a0002c0006t0002g0154 a0002c0023t0002g0172 a0003c0004t0001g0113 a0004c0033t0003g0096 a0005c0007t0004g0020 a0005c0007t0004g0032 a0012c0027t0001g0117	77	262	0.2939	678	c.212 others(697): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACACTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACAC CCCCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACA CACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACA CCCCTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACAC ACACCTCCAAAAACACACACATACCTAACACACACCTCCTTCAAACACAC ACACCTCCAAACACACACACACCTAACACACACCTCTTTCAAACACACAC AC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(671): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCA AACACACATACATCTCCAAACACACACACACCTAACACACGCACCTAACA CACACTTCCTTCAAACACACACACCTCCAAAGACGCACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAACA CACACACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCAAA CACACACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAAA CACACACACCTCAAAACACACACACCTCAAAACACACACACCTCCAAAAA CACACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18980.hp2 NA19011.hp1 NA18943.hp2 NA18980.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0026 a0001c0001t0004g0041 a0001c0001t0004g0042	3	262	0.0115	678	c.212 others(697): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACACTTCCTTCAAACACACACACCTCCAAAGACGCA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACAC CCCCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACA CACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACA CCCCTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACAC ACACCTCCAAAAACACACACATACCTAACACACACCTCCTTCAAACACAC ACACCTCCAAACACACACACACCTAACACACACCTCTTTCAAACACACAC AC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(671): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGG TGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTG TCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTC TCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACG GGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCACGGGATGGGTGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	294	0.0034	678	c.153 others(697): Show c.1530-4282_1530-4281insACACCCATCCCGTGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCA TCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCCTCCCGAG ACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCCGAGACACCA CT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(671): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATATAAATATATATGTTTTGTAAATATATATAAATATATGTTTTGTAAAT ATATATAAATATATATGTTTTGTAAATATATATAAATATATATATGTTTT GTAAATATATAAATATATATTTTGTAAATATATATATATTTTGTAAATAT ATATATATTTTGTAAATATATATATATTTTGTAAATATATATATATTTTG TAAATATATATTGTAAATATATATAAATATATATTTTGTGAATTATATAT ATATTGTAAATTATATATATATTTTGTAAATATATATAGTAAATATATAT ATTTTGTAAATATGTATATATATTTTGTAAATATATATATTTTGTAAATA TGTATATATATTTTGTAAATATATACATTTTGTAAATATATAAATATATA CATTTTGTAAATATATAAAAATATATACATTTTGTAAATATATAAAAATA TATGTTGTAAATATATAAAAATATATATATTTTGTAAATATATAAATATA TATATTTTGTAAATATATATATATTTTGTAAATATATATAAATATATACA TATTTTGTAAATATATAAATATATACATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0272 a0001c0003t0003g0272	1	330	0.0030	678	c.197 others(697): Show c.1974+1124_1974+1125insTATGTATATATTTATATATTTACAAA ATATGTATATATTTATATATATTTACAAAATATATATATATTTACAAAAT ATATATATTTATATATTTACAAAATATATATATTTTTATATATTTACAAC ATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAA ATGTATATATTTATATATTTACAAAATGTATATATTTACAAAATATATAT ACATATTTACAAAATATATATATTTACAAAATATATATACATATTTACAA AATATATATATTTACTATATATATTTACAAAATATATATATAATTTACAA TATATATATAATTCACAAAATATATATTTATATATATTTACAATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATATATTTACAAAATATATATATATTTACAAAATATATATTTATATATT TACAAAACATATATATATTTATATATATTTACAAAACATATATATTTATA TATATTTACAAAACATATATTTATATATATTTACAAAACATATATATTTA TATATATTTACAAAACATATATATATTTATATATATTTACAAAACATATA TATATTTATATATATTTACAAAACATATATATATTTATATATATTTACAA AA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGGAGAGG others(671): Show GGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGGGG GGAGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGAGAGGGGGAGAGGGGG AGAGGGGGGGAGGGGGAGAGGGGGGGAGGGGGGGAGGGGGAGAGGGGGGG AGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGG AGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGG GAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGA GAGAGGGGGGAGAGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GGAGAGGGGGGAGGGGAGAGGGGGGAGGGGAGAGGGGGAGGGGGGAGAGG GGGAGGGGGGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAG AGGGGGAGAGGGGGGAGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGG GGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGAGGGGGAGAGAGGGGGAGA GAGGGGGGAGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0021 a0002c0002t0015g0021	1	163	0.0061	678	c.525 others(695): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCC TCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCCCCCCTCC CCCTCTCCCCCCTCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCTC CCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCTCTCCCCCCTCT CTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCT CCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCC TCCCCCCCTCTCCCCCTCCCCCCCTCCCCCCCTCTCCCCCTCCCCCCCTC TCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(671): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC TGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGG CTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCCCGCGCCT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18952.hp2 NA18983.hp2 others(1): Show NA18949.hp1 NA18952.hp2 NA18983.hp2 NA19067.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0006 a0005c0005t0001 a0005c0005t0006 a0001c0001t0006 a0005c0005t0001 a0005c0005t0006	a0001c0001t0006g0033 a0005c0005t0001g0141 a0005c0005t0006g0213 others(1): Show a0001c0001t0006g0033 a0005c0005t0001g0141 a0005c0005t0006g0213 a0005c0005t0006g0218	4	292	0.0137	678	c.218 others(693): Show c.2189-97_2189-96insAGGCGCGGGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGC CTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCAG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTC GCCAGGAGCCCATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGT GAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(671): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	292	0.0034	678	c.377 others(695): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(671): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0105 a0004c0105	a0004c0105t0002 a0004c0105t0002	a0004c0105t0002g0101 a0004c0105t0002g0101	1	292	0.0034	678	c.377 others(695): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar

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Search Results (Total: 10000 hits)