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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⚠️ 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
FAM167A_chr8_11416476_11471753	11456222	A A	AGTGAGTG others(530): Show AGTGAGTGTGGGGGGTGGTTGCCTTGTGGGTATCAGTGTGAGTGTAAGGT GGTTGCCCTGCTGGGTGTGTATGGGTGTGAGTGTGGGGGGTGTTTGCCTT GCTGTGAGTGTGAGTGTGAGGGTTGGTTGCCTTGTGGGTATCAGTGTGAG TGTGAGGTGGTTGCCCTGCTGGGTGTGTATGGGTGTGAGTGTGGGGTGGT TGCCCTGCTGGGTGCGTGTGTGGGGTGGTTGCTCTGCCTGGTGTGTGAGT GTGAGTGTGAGTGTGGGGGGTGGTTGCCTTGCTGTGTGTGAGTGTGAGTG TGGGGGGTGGTTGCCTTGCTGTGTGTGAGTGTGAATGTGGGGAGTGGTTG CCTTGCTGTGTGTGAGTGTGAGTGTGGGGGGTAGTTGCCTTGCTGTGTGT GAGTGTGAGTGTGGGGGGTAGTTGCCTTGCTGGGTGTGTGAATGAGGGGT GGTTGCCTTGCTGTGCATGAGTGTGAGTGTGAGTGTCAGGGGTGGTTGCC CTGCTGGGGGTATGTGAGTGTTGGGTGGTTGCCTTGCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20129.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0089 a0001c0001t0055 a0001c0001t0089	a0001c0001t0055g0025 a0001c0001t0089g0024 a0001c0001t0055g0025 a0001c0001t0089g0024	2	374	0.0054	537	c.-39 others(558): Show c.-398+10403_-398+10404insAGCAAGGCAACCACCCAACACTCA CATACCCCCAGCAGGGCAACCACCCCTGACACTCACACTCACACTCATGC ACAGCAAGGCAACCACCCCTCATTCACACACCCAGCAAGGCAACTACCCC CCACACTCACACTCACACACAGCAAGGCAACTACCCCCCACACTCACACT CACACACAGCAAGGCAACCACTCCCCACATTCACACTCACACACAGCAAG GCAACCACCCCCCACACTCACACTCACACACAGCAAGGCAACCACCCCCC ACACTCACACTCACACTCACACACCAGGCAGAGCAACCACCCCACACACG CACCCAGCAGGGCAACCACCCCACACTCACACCCATACACACCCAGCAGG GCAACCACCTCACACTCACACTGATACCCACAAGGCAACCAACCCTCACA CTCACACTCACAGCAAGGCAAACACCCCCCACACTCACACCCATACACAC CCAGCAGGGCAACCACCTTACACTCACACTGATACCCACAAGGCAACCAC CCCCCACACTCAC	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FAM167A_chr8_11416476_11471753	11456222	A A	AGTGAGTG others(530): Show AGTGAGTGTGGGGGGTGGTTGCCTTGTGGGTATCAGTGTGAGTGTAAGGT GGTTGCCCTGCTGGGTGTGTATGGGTGTGAGTGTGGGGGGTGTTTGCCTT GCTGTGAGTGTGAGTGTGAGGGTTGGTTGCCTTGTGGGTATCAGTGTGAG TGTGAGGTGGTTGCCCTGCTGGGTGTGTATGGGTGTGAGTGTGGGGTGGT TGCCCTGCTGGGTGCGTGTGTGGGGTGGTTGCTCTGCCTGGTGTGTGAGT GTGAGTGTGAGTGTGGGGGGTGGTTGCCTTGCTGTGTGTGAGTGTGAGTG TGGGGGGTGGTTGCCTTGCTGTGTGTGAGTGTGAATGTGGGGGGTGGTTG CCTTGCTGTGTGTGAGTGTGAGTGTGGGGGGTAGTTGCCTTGCTGTGTGT GAGTGTGAGTGTGGGGGGTAGTTGCCTTGCTGGGTGTGTGAATGAGGGGT GGTTGCCTTGCTGTGCATGAGTGTGAGTGTGAGTGTCAGGGGTGGTTGCC CTGCTGGGGGTATGTGAGTGTTGGGTGGTTGCCTTGCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG01175.hp2 others(44): Show HG00738.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01516.hp1 HG01934.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG06807.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0057 a0001c0001t0058 a0001c0001t0068 a0001c0001t0103 a0001c0008t0077 a0002c0002t0008	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0164 others(40): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0164 a0001c0001t0003g0007 a0001c0001t0003g0122 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0330 a0001c0001t0005g0022 a0001c0001t0005g0309 a0001c0001t0005g0313 a0001c0001t0005g0318 a0001c0001t0005g0320 a0001c0001t0005g0325 a0001c0001t0009g0128 a0001c0001t0011g0265 a0001c0001t0012g0329 a0001c0001t0016g0023 a0001c0001t0016g0317 a0001c0001t0020g0126 a0001c0001t0021g0157 a0001c0001t0021g0321 a0001c0001t0024g0242 a0001c0001t0025g0328 a0001c0001t0029g0276 a0001c0001t0030g0125 a0001c0001t0044g0026 a0001c0001t0046g0316 a0001c0001t0047g0312 a0001c0001t0048g0315 a0001c0001t0049g0324 a0001c0001t0050g0314 a0001c0001t0051g0308 a0001c0001t0052g0319 a0001c0001t0053g0327 a0001c0001t0057g0323 a0001c0001t0058g0127 a0001c0001t0068g0273 a0001c0001t0103g0260 a0001c0008t0077g0108 a0002c0002t0008g0114	47	374	0.1257	537	c.-39 others(558): Show c.-398+10403_-398+10404insAGCAAGGCAACCACCCAACACTCA CATACCCCCAGCAGGGCAACCACCCCTGACACTCACACTCACACTCATGC ACAGCAAGGCAACCACCCCTCATTCACACACCCAGCAAGGCAACTACCCC CCACACTCACACTCACACACAGCAAGGCAACTACCCCCCACACTCACACT CACACACAGCAAGGCAACCACCCCCCACATTCACACTCACACACAGCAAG GCAACCACCCCCCACACTCACACTCACACACAGCAAGGCAACCACCCCCC ACACTCACACTCACACTCACACACCAGGCAGAGCAACCACCCCACACACG CACCCAGCAGGGCAACCACCCCACACTCACACCCATACACACCCAGCAGG GCAACCACCTCACACTCACACTGATACCCACAAGGCAACCAACCCTCACA CTCACACTCACAGCAAGGCAAACACCCCCCACACTCACACCCATACACAC CCAGCAGGGCAACCACCTTACACTCACACTGATACCCACAAGGCAACCAC CCCCCACACTCAC	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FMN1_chr15_32760544_33199714	32777904	C C	CATTTATT others(530): Show CATTTATTATATATTATGTATAATATATAATACATTTATTATATATTATG TATAATATATAATACATTTATTATATATTATGTATAATATATAATACATT TATTATATATTATGTATAATATATAATACATTTATTATATATTATGTATA ATATATAATACATTTATATTATGTATAATATATAATACATTTATATTATG TATAATATATAATACATTTATTATGTATAATATATAATACATTTATATTA TGTATAATATATAATACATTTATTATGTATAATATATAATACATTTATTA TATATTATGTATAATATATAATACATTTATTATGTATAATATATAATACA TTTATTATATATTATGTATAATATATAATACATTTATTATATATTATGTA TAATATATAATACATTTATTATATATTATGTATAATATATAATACATTTA TTATATATTATGTATAATATATAATACATTTATTATATATTATGTATAAT ATATAATACATTTATTATGTATAATATATAATACATTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0006 a0023c0022t0006	a0023c0022t0006g0027 a0023c0022t0006g0027	1	196	0.0051	537	c.413 others(554): Show c.4131-986_4131-985insAAATGTATTATATATTATACATAATAAA TGTATTATATATTATACATAATATATAATAAATGTATTATATATTATACA TAATATATAATAAATGTATTATATATTATACATAATATATAATAAATGTA TTATATATTATACATAATATATAATAAATGTATTATATATTATACATAAT ATATAATAAATGTATTATATATTATACATAATAAATGTATTATATATTAT ACATAATATATAATAAATGTATTATATATTATACATAATAAATGTATTAT ATATTATACATAATATAAATGTATTATATATTATACATAATAAATGTATT ATATATTATACATAATATAAATGTATTATATATTATACATAATATAAATG TATTATATATTATACATAATATATAATAAATGTATTATATATTATACATA ATATATAATAAATGTATTATATATTATACATAATATATAATAAATGTATT ATATATTATACATAATATATAATAAATGTATTATATATTATACATAATAT ATAATAAAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FMN2_chr1_240086883_240480187	240185145	C C	CTTCCCCT others(530): Show CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCT GCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0054 a0054	a0054c0100 a0054c0100	a0054c0100t0001 a0054c0100t0001	a0054c0100t0001g0129 a0054c0100t0001g0129	1	174	0.0058	537	c.193 others(556): Show c.1931-3038_1931-3037insTACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTG CCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTT TCTCCCTCCTA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXK2_chr17_82514732_82609602	82586352	G G	GCCGGGGG others(530): Show GCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGG CAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC GGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCAG TGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCAGTGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	308	0.0033	537	c.157 others(554): Show c.1576+153_1576+154insCGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAAGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTCAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACA GGGAAGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAG TCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586401	C C	CGGGGGGG others(530): Show CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCAGT GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGGG GGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCAGTGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	308	0.0033	537	c.157 others(554): Show c.1576+208_1576+209insGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAGT CAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCAGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAA AGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG CGGGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586545	A A	AGGCGGAG others(530): Show AGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	308	0.0033	537	c.157 others(554): Show c.1576+368_1576+369insGGAGACCACAGGGAGGTGAAAGGTGGGC GGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAG GAGGAGAGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GALNT9_chr12_132191372_132334589	132242611	C C	CCTTCCCG others(530): Show CCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACACCCTTC CAGGGGCCCTCCCTATACCCATTACACACACGCCCCACACCATTCCAGGG GCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCT CCCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCCGTCCCTA TACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCC ATTACACACACGCCACACACCCTTCCAGGGGCCGTCCCTATACCCATTAC ACACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACA CGCCACACCCCCTTCCCGGGGCCGTCCCTATCCCCATTACACACACGCCA CACCCCCTTCCCGGGGCCCTCCCTATACCCATTTACACACACCACACACC CTTCCCGGGGCCCTCCCTATACCCATTACACTTACACCACACCCCCTTCC CGGGGCCCTCCCTTTACCCATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0097 a0001c0006t0001g0097	1	183	0.0055	537	c.107 others(556): Show c.1077+5298_1077+5299insTGTGTGTTGTGTGTGTAATGGGTAAA GGGAGGGCCCCGGGAAGGGGGTGTGGTGTAAGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGTGTGTGGTGTGTGTAAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGACGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTG TGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCCTGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGT GTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTA ATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGG TATAGGGAGGGCCCCTGGAATGGTGTGGGGCGTGTGTGTAATGGGTATAG GGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135620157	T T	TCTACTCC others(530): Show TCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCC CTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTT CTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCATCTCCCCCGTCTCTC CCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCCCCTACTCCCTCTTC TCCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTTCTCCCCCTTCTCCCC CTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCCATCTCCCCCATCTCC CCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCCCCTTCTCCCCCATCT GCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCA TCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCC CCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTT CTCCCCCTACTCCTTCTCCCCTTCTCCCCCTTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0001 a0003c0006t0001 a0002c0003t0001 a0003c0006t0001	a0002c0003t0001g0095 a0003c0006t0001g0268 a0002c0003t0001g0095 a0003c0006t0001g0268	2	436	0.0046	537	c.39 others(548): Show c.3939_*3940insGGGGGGAAGGGGGAGAAGGGGAGAAGGAGTAGGG GGAGAAGGGGGAGTAGGGGGAGATGGGGGAGACTGGGCAGACAGGGGAGA CGGGGGAGAAGGGGGAGTAGGGGGAGAAGGGGGAGATAGGGGAGAAGAGG GAGATGGGGGAGTAGGGGGAGTAGGGGAAGAAGGGGGAGAAGGGGATACT GGGCAGATGGGGGAGAAGGGGGAGAAGGGGAGAAGGGGAGTAGGGGGAGA AGGGGGAGATGGGGGAGATGGGAGAAGGGGGAGACGGGGGAGATTGGGGA GAAGGGGGAGAAGGGGGAGAAGGGGGAGACTGGGCAGACGGGGGAGACGG GGGAGAAGAGGGAGTAGGGGGAGAAGGGTGAGAAGGGGGAGATGGGGGAG ACGGGAGAGACGGGGGAGATGGGGGAGAAGGGGGAGTAGGGGGAAAAGGG GGAGAAGGGGGAGACGGGGGAGACGGGGGAGTAGGGGGAGAAGGGGGAGT AGAGGGGGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAG TAG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3490		chr9	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(530): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGGGGGTGA GTGTGGGAGAGTGTGGGGTACGGGTGTGAGTGTGGGAGGGTGTGGGGTGG GGTGAGAGTGTGGGAGGGTGTGGGATGGGGGTGAGCATGAGTGTGGGAGG GTGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGACTG TGGGAGAGTGGGGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGG GTGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGAGTGTGG AAGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGG TGAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAATGTGAGTGTGGGA GGGTGTGGGGTGGGGGTGTGTGTGGGAGGGTGTGGGGTGGGGTGTGTGGA TGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	330	0.0030	537	c.-10 others(554): Show c.-10-3787_-10-3786insCCACACCACACACCCACAAACCCACGCT CACACACACATCCACACACCCCACCCCACACCCTCCCACACACACCCCCA CCCCACACCCTCCCACACTCACATTCACCCCCACCCCACACCCTCCCACA CTCACATTCACCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACC CCACACCCTTCCACACTCACACTCACCCCCACCCCACACCCTCCCATGCT CTCACCCCACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACCC CACTCTCCCACAGTCACACCCCCACCCCACACCCTCCCACACTCACACTC ACCCCCACACCCTCCCACACTCATGCTCACCCCCATCCCACACCCTCCCA CACTCTCACCCCACCCCACACCCTCCCACACTCACACCCGTACCCCACAC TCTCCCACACTCACCCCCACCCCCACCCCACACCCTCCCACACTCACGCT CACCCCCCTACCCCACACCCAGACACACACCCACACACACCCATACTCTC ACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(530): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGGGGGGTGA GTGTGGGAGATGTGGGGTACGGGTGTGAGTGTGGGAGGGTGTGGGGGTGG GGTGAGAGTGTGGGAGGGTGTGGGATGGGGTGAGCATGAGTGTGGAGGGT GTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGGGGGGTTGTGACTGTG GGAGAGTGGGGTGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGGTG GGGTGAGAGCATGGGAGGGTGTTGGTGGGTGGGGGTGAGTGTGAGTGTGG AAGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGG TGAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAATGTGAGTGTGGGA GGTGTGGGGTGGGGGTGTGTGTGGAGAGGGTGTGGGGTGGGGTGTGTGGA TGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0221 a0001c0001t0070g0221	1	330	0.0030	537	c.-10 others(554): Show c.-10-3787_-10-3786insCCACACCACACACCCACAAACCCACGCT CACACACACATCCACACACCCCACCCCACACCCTCTCCACACACACCCCC ACCCCACACCTCCCACACTCACATTCACCCCCACCCCACACCCTCCCACA CTCACATTCACCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACC CCACACCCTTCCACACTCACACTCACCCCCACCCACCAACACCCTCCCAT GCTCTCACCCCACCCCACCCCACACCCTCCCACACTCACACTCACCCCAC CCCACTCTCCCACAGTCACAACCCCCCCCCACACCCTCCCACACTCACAC TCACCCCCACACCCTCCACACTCATGCTCACCCCATCCCACACCCTCCCA CACTCTCACCCCACCCCCACACCCTCCCACACTCACACCCGTACCCCACA TCTCCCACACTCACCCCCCACCCCCACCCCACACCCTCCCACACTCACGC TCACCCCCTACCCCACACCCAGACACACACCCACACACACCCATACTCTC ACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(530): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGGGGGTGAG TGTGGGAGAGTGTGGGGTACGGGTGTGAGTGTGGGAGGGTGTGGGGTGGG GTGAGAGTGTGGGAGGGTGTGGGATGGGGGTGAGCATGAGTGTGGGAGGG TGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGGGGTGTGACTG TGGGAGAGTGGGGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGG GTGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGAGTGTGG AAGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGG TGAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAATGTGAGTGTGGGA GGGTGTGGGGTGGGGGTGTGTGTGGGAGGGTGTGGGGTGGGGTGTGTGGA TGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0089 a0001c0001t0018g0089	1	330	0.0030	537	c.-10 others(554): Show c.-10-3787_-10-3786insCCACACCACACACCCACAAACCCACGCT CACACACACATCCACACACCCCACCCCACACCCTCCCACACACACCCCCA CCCCACACCCTCCCACACTCACATTCACCCCCACCCCACACCCTCCCACA CTCACATTCACCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACC CCACACCCTTCCACACTCACACTCACCCCCACCCCACACCCTCCCATGCT CTCACCCCACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACCC CACTCTCCCACAGTCACACCCCCCACCCCACACCCTCCCACACTCACACT CACCCCCACACCCTCCCACACTCATGCTCACCCCCATCCCACACCCTCCC ACACTCTCACCCCACCCCACACCCTCCCACACTCACACCCGTACCCCACA CTCTCCCACACTCACCCCCACCCCCACCCCACACCCTCCCACACTCACGC TCACCCCCTACCCCACACCCAGACACACACCCACACACACCCATACTCTC ACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(530): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGGGGGTGAG TGTGGGAGAGTGTGGGGTACGGGTGTGAGTGTGGGAGGGTGTGGGGTGGG GTGAGAGTGTGGGAGGGTGTGGGATGGGGGTGAGCATGAGTGTGGGAGGG TGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGACTGT GGGAGAGTGGGGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGG TGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGGTGAGTGTGAGTGTGG AAGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGG TGAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAATGTGAGTGTGGGA GGGTGTGGGGTGGGGGTGTGTGTGGGAGGGTGTGGGGTGGGGTGTGTGGA TGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02027.hp2 HG01496.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0235 a0001c0001t0001g0034 a0001c0001t0001g0235	2	330	0.0061	537	c.-10 others(554): Show c.-10-3787_-10-3786insCCACACCACACACCCACAAACCCACGCT CACACACACATCCACACACCCCACCCCACACCCTCCCACACACACCCCCA CCCCACACCCTCCCACACTCACATTCACCCCCACCCCACACCCTCCCACA CTCACATTCACCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACC CCACACCCTTCCACACTCACACTCACCCCCCACCCCACACCCTCCCATGC TCTCACCCCACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACC CCACTCTCCCACAGTCACACCCCCACCCCACACCCTCCCACACTCACACT CACCCCCACACCCTCCCACACTCATGCTCACCCCCATCCCACACCCTCCC ACACTCTCACCCCACCCCACACCCTCCCACACTCACACCCGTACCCCACA CTCTCCCACACTCACCCCCACCCCCACCCCACACCCTCCCACACTCACGC TCACCCCCTACCCCACACCCAGACACACACCCACACACACCCATACTCTC ACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(530): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGGGGGTGAG TGTGGGAGAGTGTGGGGTACGGGTGTGAGTGTGGGAGGGTGTGGGGTGGG GTGAGAGTGTGGGAGGGTGTGGGATGGGGGTGAGCATGAGTGTGGGAGGG TGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGACTGT GGGAGAGTGGGGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGG TGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGAGTGTGGA AGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGGT GAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAG GGTGTGGGGTGGGGGGTGTGTGTGGGAGGGTGTGGGGTGGGGTGTGTGGA TGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	330	0.0030	537	c.-10 others(554): Show c.-10-3787_-10-3786insCCACACCACACACCCACAAACCCACGCT CACACACACATCCACACACCCCACCCCACACCCTCCCACACACACCCCCC ACCCCACACCCTCCCACACTCACATTCACCCCCACCCCACACCCTCCCAC ACTCACATTCACCCCACCCCACACTCTCCCACAGTCACACTCACCCCCAC CCCACACCCTTCCACACTCACACTCACCCCCACCCCACACCCTCCCATGC TCTCACCCCACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACC CCACTCTCCCACAGTCACACCCCCACCCCACACCCTCCCACACTCACACT CACCCCCACACCCTCCCACACTCATGCTCACCCCCATCCCACACCCTCCC ACACTCTCACCCCACCCCACACCCTCCCACACTCACACCCGTACCCCACA CTCTCCCACACTCACCCCCACCCCCACCCCACACCCTCCCACACTCACGC TCACCCCCTACCCCACACCCAGACACACACCCACACACACCCATACTCTC ACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544876	C C	CCATCACC others(530): Show CCATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCTCT ACCACCACCACCACCACCACCACCACCACTACCACCTCTACCACCTCTAC CACCACGACCACCACTACCACCTCTACCACCACCATCACCACCACCACCA CCATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCTCT ACCACCACCACCACCACCACCACCACCACTACCACCTCTACCACCTCTAC CACCACGACCACCACTACCACCTCTACCACCACCATCACCACCACCACCA CCATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCATC ATCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCACTAT CACCACCTCTACTACCACCATCACCACCACCACCACCATCACCTCTACCA CCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ATCACCACCTCTACCACCACCATCACCACCACCACTAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0124 a0001c0001t0068g0124	1	134	0.0075	537	c.520 others(558): Show c.5208-19967_5208-19966insATAGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGG TAGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTA GTGGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAG TGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTG GTGGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAG TGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTG GTGGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGATG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(530): Show TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCACCACCACCATCACCACCTCTACCACCACCATCACCACCACCA CCACCACCACCTCTACCACCACCATCACTACTACCACCACCACCATCACC ACCTCTACCACCATCGCTACCATCACCACCACCACCACTATCACCGCCAC CACCATCGCTACCATCACCACCACCACCACTACCACCTCTACCACCTCTA CCACCACGACCACCACTACCACCTCTACCACCACCATCACCACCACCACC ACCATCACCTCTACCACCACCATCACCACCACTACCACTACCTCTACCTC CACTGCTACCATCACCACCACCACTACCACCTCTACCACCACCATCACCA CCACCACTACCACCTCTACCACCACCATCACCACCACCACCACCATCACC TCTACCACCACCATCACCACCACCACCACCATCTCTACCACCACCATCAC TACTACCACCACCACCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0061 a0003c0029t0061	a0003c0029t0061g0071 a0003c0029t0061g0071	1	134	0.0075	537	c.520 others(558): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGATGGTGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGG TGATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGTG GTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGT GGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGA TGGTAGCGATGGTGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCG ATGGTGGTAGAGGTGGTGATGGTGGTGGTGGTAGTAGTGATGGTGGTGGT AGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399367	T T	TCATCACC others(530): Show TCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCATCACCATCACCACC ACCACCACCATCACCATCATCACCACCATCACCACCACCATCACCATCAC CACCACCGCCGCCACCACCACCATCACCATCATCACCGCCGCCACCACCA CCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCACCACC ACCACCATCACCATCACCACCACCACCACCATCATCACCGCCACCACCAC CACCACCATCACCATCACCACCACCATCACCATCATCACCGCCACCACCA CCACCACCATCACCACCACAACCACCACCACCACCATCACCACCATCACC ACCACCACCACCATCACCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	314	0.0032	537	c.-25 others(554): Show c.-25+2503_-25+2504insCCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCATCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ATCACCATCACCACCACCACCACCATCACCATCATCACCACCATCACCAC CACCATCACCATCACCACCACCGCCGCCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACC ACCATCACCACCACCACCACCATCACCATCACCACCACCACCACCATCAT CACCGCCACCACCACCACCACCATCACCATCACCACCACCATCACCATCA TCACCGCCACCACCACCACCACCATCACCACCACAACCACCACCACCACC ATCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399451	C C	CCACCACC others(530): Show CCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCATC ATCACCACCATCACCACCACCATCATCACCACCATCACCACCGCCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCATCACCACCACCATCATCACCACCATCACCACCATCACCGCCAC CACCATCACCACCATCACCACCGCCACCACCACCACCATCACCACCGCCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCGCCA CCACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCACC ACCACCACCACCATCGCCGCCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	314	0.0032	537	c.-25 others(554): Show c.-25+2545_-25+2546insCCATCACCACCACCACCACCATCACCAC CACCATCATCACCACCATCACCACCACCATCATCACCACCATCACCACCG CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCACCATCATCACCACCATCACCACCATCA CCGCCACCACCATCACCACCATCACCACCGCCACCACCACCACCATCACC ACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACC ACCGCCACCACCACCACCATCACCACCACCACCACCATCACCACCACCAT CATCACCACCACCACCACCATCGCCGCCACCACCACCACCACCATCACCA CCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(530): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	220	0.0046	537	c.957 others(554): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(530): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	220	0.0046	537	c.957 others(554): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(530): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02056.hp1 HG02615.hp1 others(1): Show HG01099.hp2 HG02056.hp1 HG02615.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0080 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0080 a0001c0001t0001g0112 a0001c0001t0001g0150	4	220	0.0182	537	c.957 others(554): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(530): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGTGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCATCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	220	0.0046	537	c.957 others(554): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGTGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCCATCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(530): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	220	0.0046	537	c.957 others(554): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(530): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGAGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	220	0.0046	537	c.957 others(554): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(530): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG02135.hp2 others(1): Show HG00408.hp1 HG00642.hp2 HG02135.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0032 a0001c0001t0001g0178 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0178 a0001c0001t0001g0216 a0001c0001t0003g0025	4	220	0.0182	537	c.957 others(554): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(530): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG01978.hp1 others(2): Show HG01192.hp2 HG01496.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0092 a0001c0001t0001g0107	5	220	0.0227	537	c.957 others(554): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(530): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	220	0.0046	537	c.957 others(554): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA0930_chr22_45187244_45245894	45229292	C C	CCACTCAC others(530): Show CCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGATCCCT CTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCCGACCA AACACTCACCCGAGAGATCCCTCTCCACCCCGCAACCACCAAACACTCAC CTGAGAGATCCCTCTCCACCCCCCAACCACCACTCACCTGAGATCCCTCT CCACCCCCCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCTG AGATCCCTCTCCACCCCCCAACCACCACTCACCTGAAAGATCCCTCTCCA CATCCCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACT AAACACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACT CACCTGAAAGATCCCTCTCCACCCCCCCCACCACCAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0047 a0001c0001t0018g0047	1	398	0.0025	537	c.64+ others(554): Show c.64+11347_64+11348insTTTGGTGGTGGGGGGGGTGGAGAGGGAT CTTTCAGGTGAGTGTTTGGTGGTGGGGGGGCATGGAGAGGGATCTTTCGG GTGAGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGT GGTGGGGATGTGGAGAGGGATCTTTCAGGTGAGTGGTGGTTGGGGGGTGG AGAGGGATCTCAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCA GGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGT GGGGGGGTGGAGAGGGATCTCAGGTGAGTGGTGGTTGGGGGGTGGAGAGG GATCTCTCAGGTGAGTGTTTGGTGGTTGCGGGGTGGAGAGGGATCTCTCG GGTGAGTGTTTGGTCGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTG GGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTC GGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF26B_chr1_245149985_245714432	245443989	C C	CACTGTTC others(530): Show CACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCT CCCTCACTGTTCACCTAGAGTGGTCATCTCCCTCACTGTTCACCTAGAGG AGAGGTCATCTCCTTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTC ACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCA CTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCAT CTCCCTCACCGTTCACCCTGCGGTCATCTCCCTCACCGTTCACCCTGTGG TCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTA GAGCGGTCATCTCCCTTACTGTTCACCTAGAGCGGTCATCTCCCTCACTG TTCACCTAGAGGAGAGGTCATCTCCTTCACTGTTCACCCTGCGGTCATCT CCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTC ATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0031 a0020c0033t0031	a0020c0033t0031g0002 a0020c0033t0031g0002	1	160	0.0063	537	c.116 others(558): Show c.1166+24254_1166+24255insCTGCGGTCATCTCCCTCACTGTTC ACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGTGGTCATCTCCCTCA CTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGTTCACCCTGCGGTCA TCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAG CGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTC ACCTAGAGCGGTCATCTCCCTCACCGTTCACCCTGCGGTCATCTCCCTCA CCGTTCACCCTGTGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCC CTCACTGTTCACCTAGAGCGGTCATCTCCCTTACTGTTCACCTAGAGCGG TCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGTTC ACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACT GTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCC CTTACTGTTCACC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KREMEN1_chr22_29068035_29151820	29120028	G G	GGGAGGAA others(530): Show GGGAGGAAGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGA GGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGA GGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGT GATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGG GAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATG GAAATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0290 a0002c0003t0003g0290	1	368	0.0027	537	c.353 others(554): Show c.353-1309_353-1308insAGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAG AGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGG AGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACA GGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGA GGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAT GGAAATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAG AGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHPP_chr10_124456823_124619141	124471609	A A	ATTTTTAT others(530): Show ATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTAT ATATAGTTATATATATAGTTATATATATATTTTTATATATATTTATATTT ATATATATATTTTTATATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATAAATATATATATAAATATATATAT TTATATATATATTTATATATATATTTATATATTTATATATGTATTTATAT ATATTTATATATGTATTTATATATATTTATATATATTTATATGTATTTAT ATATATTTATATATATTTATATATATAAATATAAATATATTTATATATAT AAATATAAATATATTTATATATATAAATATAAATATATTTATATATAAAT ATATTTATATATATTTATATAAATATATTTATGTATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	260	0.0039	537	c.125 others(554): Show c.125+9624_125+9625insTTTATATATAGTTATATATATTTATATA TAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATA TAGTTATATATATAGTTATATATAGTTATATATATAGTTATATATATATT TTTATATATATTTATATTTATATATATATTTTTATATATATATTTATATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATAAATA TATATATAAATATATATATTTATATATATATTTATATATATATTTATATA TTTATATATGTATTTATATATATTTATATATGTATTTATATATATTTATA TATATTTATATGTATTTATATATATTTATATATATTTATATATATAAATA TAAATATATTTATATATATAAATATAAATATATTTATATATATAAATATA AATATATTTATATATAAATATATTTATATATATTTATATAAATATATTTA TGTATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(530): Show CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGTGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGGGGGTAGGGAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGG TGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	260	0.0039	537	c.625 others(554): Show c.625-9482_625-9481insGGGGGGTAGGGAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGTGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGGGGGTAGGG AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC102723971_chr9_135609183_135624893	135620157	T T	TCTACTCC others(530): Show TCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCC CTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTT CTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCATCTCCCCCGTCTCTC CCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCCCCTACTCCCTCTTC TCCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTTCTCCCCCTTCTCCCC CTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCCATCTCCCCCATCTCC CCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCCCCTTCTCCCCCATCT GCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCA TCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCC CCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTT CTCCCCCTACTCCTTCTCCCCTTCTCCCCCTTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03516.hp1 HG02451.hp2 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0003 a0003c0003t0005g0003	2	450	0.0044	537	c.12 others(548): Show c.1205_*1206insCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCC TTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTC CCCCGTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCA TCTCCCCCGTCTCTCCCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCC CCCTACTCCCTCTTCTCCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTT CTCCCCCTTCTCCCCCTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCC ATCTCCCCCATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCC CCTTCTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACT CCCCCTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCC TACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTC CCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCTTCTCCCCCTTCCC CCC	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		265		chr9	TogoVar
MED16_chr19_862963_898187	871834	A A	AGAGGGGA others(530): Show AGAGGGGAGAGCGGGGAGCGGGGAGCGGGGAGAGGGGAGAGCGGGGAGCG GGGAGAGGGGAGAGGGGAGAGGGGAGAGCGGGGAGCGGGGAGAGGGGAGA GCGGGGAGCGGGGAGAGGGGAGAGCGGGGAGCGGGGAGAGGGGAGAGCGG GGAGAGGGGAGAGCGGGGAGAGGGGAGAGAGGGGAGAGAGGGGAGCGGGG AGAGGGGAGAGAGGGGAGCGGGGAGAGGGGAGAGAGGGGAGCGGGGAGAG GGGAGAGAGGGGAGAGGGGAGAGAGGGGAGAGGGGAGAGAGGGGAGAGAG GGGAGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGAGGGGAG AGAGGGGAGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGAGGGAAGAGGGG AGAGAGGGGAGAGAGGGGAGAGGGAAGAGGGGAGAGAGGGGAGAGGGAAG AGGGGAGAGAGGGGAGAGAGGGGAGAGGGAAGAGGGGAGAGAGGGGAGAG AGGGGAGAGCGGGGAGAGAGGGGAGCGGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	56	0.0179	537	c.209 others(552): Show c.2098+91_2098+92insCCCCCTCTCCCCGCTCCCCTCTCTCCCCGC TCTCCCCTCTCTCCCCTCTCTCCCCTCTTCCCTCTCCCCTCTCTCCCCTC TCTCCCCTCTTCCCTCTCCCCTCTCTCCCCTCTTCCCTCTCCCCTCTCTC CCCTCTCTCCCCTCTTCCCTCTCTCCCCTCTCTCCCCTCTCTCCCCTCTC TCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCC TCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCCCCTCTCTCCCCTCTCCCC TCTCTCCCCTCTCCCCGCTCCCCTCTCTCCCCTCTCCCCGCTCCCCTCTC TCCCCTCTCCCCGCTCCCCTCTCTCCCCTCTCTCCCCTCTCCCCGCTCTC CCCTCTCCCCGCTCTCCCCTCTCCCCGCTCCCCGCTCTCCCCTCTCCCCG CTCCCCGCTCTCCCCTCTCCCCGCTCCCCGCTCTCCCCTCTCCCCTCTCC CCTCTCCCCGCTCCCCGCTCTCCCCTCTCCCCGCTCCCCGCTCCCCGCTC TCCCCTC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MLPH_chr2_237482251_237560322	237543043	G G	GGGACAGT others(530): Show GGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGGGATGGTGAGTGGGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGG CACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG ACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGCACGGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGGGGACAGTAGTG AGTAGGGGACAGTGGTGAGTTGGGGCACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	286	0.0035	537	c.153 others(554): Show c.1539+386_1539+387insACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGG GGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGGGGACAGTAGTGAGTAGGGGACAGTGGTGAGTTGGGGCACAGT GGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(530): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATA CCGTGTATATATACACAGTATGTATACCGTGTATATATACACAGTATGTA TACCGTGTATATATACACAGTATGTATACTGTGTATATATACACAGTATG TATACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATACA GTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATAC ACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATAT ACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATAT ATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0130 a0001c0001t0014g0130	1	362	0.0028	537	c.-75 others(556): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATA CAGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTG TATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACT GTATGCAGTATACATACTGTGTATATATACACAGTATACATACTGTGTAT ATATACACGGTATACATACTGTGTATATATACACGGTATACATACTGTGT ATATATACACGGTATACATACTGTGTATATATACGGTATACATACTGTGT ATATATACGGTATACATACATACAGTATACATACATACAGTATACATGCT GTATACAGTATACATGCTGTATACAGTATACATGCTGTACACAGTATACA TGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHSL2_chrX_71905845_72158286	72092752	T T	TAACTGCA others(530): Show TAACTGCATTAATACTTCTTTTTTTTTTATTTTTTATTTTTTTTTTTTTA TTTTTTTTTTATTTATTTATTTTTTTATTTTTTTTTTCTTTTCTTTTTTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAGTGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGAT AGACTGGATTAGGAAAATGTGGCACATATACACCATGGAATACTATGCAG CCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTG GAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0084 a0001c0003t0084	a0001c0003t0084g0150 a0001c0003t0084g0150	1	187	0.0054	537	c.281 others(556): Show c.281-39309_281-39308insTTTTTTTTTATTTTTTATTTTTTTTT TTTTATTTTTTTTTTATTTATTTATTTTTTTATTTTTTTTTTCTTTTCTT TTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGT GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCA CTAATGTGTCATCTAGCATTAGGTATATCTCCCAGTGCTATCCCTCCCCC CTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTG TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGT GTTTGGTTTTTACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACA ATGATAGACTGGATTAGGAAAATGTGGCACATATACACCATGGAATACTA TGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGA AATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACTGCA TTAATACTTCT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(530): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATAGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATCACC ATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCAT GATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCA TCACCATCATCATCACCATCATCACCATCATCATCACCACCATTACCATC ATCATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(146): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0002t0002 a0001c0002t0005 a0001c0002t0013 a0001c0003t0001 a0001c0003t0008	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 others(146): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0173 a0001c0001t0002g0229 a0001c0001t0003g0176 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0005g0005 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0257 a0001c0001t0007g0156 a0001c0001t0007g0223 a0001c0001t0007g0255 a0001c0001t0007g0262 a0001c0001t0007g0264 a0001c0001t0008g0147 a0001c0001t0008g0189 a0001c0001t0008g0246 a0001c0001t0009g0202 a0001c0001t0011g0249 a0001c0001t0017g0228 a0001c0001t0017g0258 a0001c0001t0021g0051 a0001c0001t0021g0263 a0001c0001t0029g0224 a0001c0001t0030g0082 a0001c0001t0036g0243 a0001c0001t0038g0183 a0001c0001t0042g0225 a0001c0001t0043g0160 a0001c0001t0045g0050 a0001c0001t0046g0154 a0001c0001t0047g0197 a0001c0001t0050g0239 a0001c0001t0051g0232 a0001c0001t0053g0006 a0001c0001t0054g0235 a0001c0002t0002g0142 a0001c0002t0002g0238 a0001c0002t0005g0143 a0001c0002t0013g0099 a0001c0003t0001g0056 a0001c0003t0001g0145 a0001c0003t0008g0146 a0001c0003t0008g0150 a0001c0003t0008g0248	149	276	0.5399	537	c.111 others(554): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGAT GGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGG TGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTG GTGATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGAT GGTGGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACTATGATGG GGTAGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGG TGGTGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGA TGATGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCG ATGGTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGAT GTGATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(530): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATCACC ATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCAT GATCACCACCATCATCACCATCATCATCACCATCATCAACACCATCATCA TCACCATCATCATCACCATCATCACCATCATCATCACCACCATTACCATC ATCATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0130 a0001c0002t0019g0131 a0001c0002t0019g0130 a0001c0002t0019g0131	2	276	0.0073	537	c.111 others(554): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGATGAT GGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGG TGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTG GTGATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGAT GGTGGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGATGATGG GGTAGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGG TGGTGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGA TGATGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCG ATGGTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGAT GTGATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(530): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATCACC ATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCAT GATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCA TCACCATCATCATCACCATCATCACCATCATCATCACCACCATTACCATC ATCATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(60): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG01099.hp1 HG01884.hp2 HG01975.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18948.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA19030.hp1 NA19043.hp1 NA19078.hp2 NA19083.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0044 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0002t0014 a0001c0004t0013 a0001c0004t0025 a0001c0004t0048 a0001c0005t0003 a0001c0005t0009	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 others(60): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0267 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0004g0002 a0001c0001t0004g0095 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0119 a0001c0001t0006g0048 a0001c0001t0006g0081 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0115 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0127 a0001c0001t0008g0092 a0001c0001t0009g0046 a0001c0001t0009g0066 a0001c0001t0012g0275 a0001c0001t0013g0111 a0001c0001t0022g0086 a0001c0001t0026g0100 a0001c0001t0028g0118 a0001c0001t0033g0107 a0001c0001t0035g0114 a0001c0001t0037g0179 a0001c0001t0039g0021 a0001c0001t0044g0116 a0001c0002t0002g0017 a0001c0002t0005g0276 a0001c0002t0012g0018 a0001c0002t0014g0087 a0001c0002t0014g0088 a0001c0002t0014g0089 a0001c0004t0013g0112 a0001c0004t0013g0113 a0001c0004t0025g0096 a0001c0004t0048g0016 a0001c0005t0003g0125 a0001c0005t0003g0129 a0001c0005t0009g0128	63	276	0.2283	537	c.111 others(554): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGAT GGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGG TGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTG GTGATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGAT GGTGGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGATGATGG GGTAGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGG TGGTGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGA TGATGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCG ATGGTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGAT GTGATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(530): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATCACC ATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCAT GATCACCACCATGATCACCATCATCATCACCATCATCACCACCATCATCA TCACCATCATCATCACCATCATCACCATCATCATCACCACCATTACCATC ATCATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0045 a0001c0005t0010g0045	1	276	0.0036	537	c.111 others(554): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATCAT GGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGG TGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTG GTGATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGAT GGTGGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGATGATGG GGTAGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGG TGGTGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGA TGATGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCG ATGGTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGAT GTGATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149446	C C	CATCACAT others(530): Show CATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCACCAC TACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATTATCA CCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACCATAA TCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCACCATC ACTACCCCATCATCGTCACCATCACCATAATCACCACCACCACTGCCATC ACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCACCAT CATCACCACCATCATCACCACCATCATCATCATCACCACCATCACCATCA TCATCACCACCATCATCACCATCATTATCACCACCATGATCACCATGATC ACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCATCAC CATCATCATCACCATCATCACCATCATCATCACCACCATTACCATCATCA TCACCACCATCATCATCACCATCATCACCACCATCACT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0022 a0001c0009t0055g0022	1	276	0.0036	537	c.111 others(554): Show c.111-7890_111-7889insAGTGATGGTGGTGATGATGGTGATGATG ATGGTGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGT GATGATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGA TGATGGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATG GTGGTGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGAT GGTGGTGATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGG TGATGGTGGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGATG ATGGGGTAGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTG GTGGTGGTGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTG GTGATGATGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGT GGCGATGGTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGA TGATGTGAT	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NOTCH1_chr9_136489433_136551048	136535462	G G	GGTGGGGG others(530): Show GGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGT GCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCG GGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCA GGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0020 a0020	a0020c0046 a0020c0046	a0020c0046t0018 a0020c0046t0018	a0020c0046t0018g0020 a0020c0046t0018g0020	1	324	0.0031	537	c.140 others(554): Show c.140+8561_140+8562insTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCA CTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCA CCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCA CCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(530): Show GGGGAGGGAGGGGGGAGAGGGGGGACAGGGGAGGGAGGGAGAGGGAGGGG TAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGA CAGGGACAGGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGG AGAGAGAGGGAGGGAGAGAGGGAGAGGGGAGGGGAGGGGGGGAGAGGGAG GGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAG AGGGACAGGGAGAGGGAGGGAGAGGGGAGGGAGAGGGAGGGAGAGGGAGG GAGAGGGAGAGGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGGAGGGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGA GAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGA AAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	386	0.0026	537	c.92 others(548): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCCCTC CTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCCTCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCCTCTCCCTCCCTCTCCCTGT CCCTCTCCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCT CCCCCTCCCTCTCCCCCCCTCCCCTCCCCTCTCCCTCTCTCCCTCCCTCT CTCTCCCTCTCCCTGTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCCTGTC CCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCC CCTACCCCTCCCTCTCCCTCCCTCCCCTGTCCCCCCTCTCCCCCCTCCCT CCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
OR6J1_chr14_22625929_22649352	22637544	C C	CCAGCCGC others(530): Show CCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGGTCAGCCCCCCCGCCC GGCCAGCCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0141 a0001c0001t0040g0141	1	362	0.0028	537	c.-27 others(554): Show c.-27-2707_-27-2706insCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGG CGGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCACCTCCCTCCCGGACG GGGCGGCTG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637544	C C	CCAGCCGC others(530): Show CCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGG AGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	362	0.0028	537	c.-27 others(554): Show c.-27-2707_-27-2706insCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGCTGACC CCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACG GGGCGGCTG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGAGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCTCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGCT GACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGGCCAGGCGGGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar

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Search Results (Total: 10000 hits)