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
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(616): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA ATATATATATAACATATATATAATATATATATAATATATATAATATATAT ATAACATATATATAATATATATAACATATATATAATATATATATAACATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATATAATATATATATAACATATATATAATATATATATAACATATATATA ATATATATAACATATATATAATATATATATAACATATATATATTATATAT ATAACATATATATAATATATATATAACATTTATAATATATATATAACATA TATATAATATATATATAACATATATATATTATATATATAACATATATATA TTATATATATATAACATATATATAATATATATAACATATATATATAATAT ATATATAACATATATATATTATATATATATAACATATATATATAATATAT ATATAACATATATATATAATATATATATAACATATATATTATATATATAA CATATATATTATATATATAACATATATATAATATATATAACATATATATA ATATATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	232	0.0043	623	c.358 others(642): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATAATATATATATAACATATATATAATATATATATAATA TATATAATATATATATAACATATATATAATATATATAACATATATATAAT ATATATATAACATATATATATAATATATATATAACATATATATATAATAT ATATATAACATATATATATAATATATATATAACATATATATAATATATAT ATAACATATATATAATATATATAACATATATATAATATATATATAACATA TATATATTATATATATAACATATATATAATATATATATAACATTTATAAT ATATATATAACATATATATAATATATATATAACATATATATATTATATAT ATAACATATATATATTATATATATATAACATATATATAATATATATAACA TATATATATAATATATATATAACATATATATATTATATATATATAACATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATTATATATATAACATATATATTATATATATAACATATATATAATATAT ATAACATATATATAATATATATATAACATATATATATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
DCLK1_chr13_35763652_36136382	35958279	T T	TCACCACT others(616): Show TCACCACTATAACCACCACTACCACCACCACCACTATAACCACCATCATC ATCACCACCACTACCACTACTACAACCATTACCACCATCACTGCTATAAC CACCACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCA TCACCACCACTACCACTACTATAACCATTACCACCATCACTACTATAACC ACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCAC CACCACCACTACCACTACTATAACCATTACCACCATTACTACTATAACCA CCACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCACT ACCACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCAA TGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGA TAGGACCAACCAGGACCAACCAGGACCAACACCACCACCACTACTACCAC TACTATAACCATCACCACCATCACTGCTATAATCACCACCACCACCACCA TCACTATAATCATCACCATCATCACCACTATAACCACCACCACCACCACC ACCACCAGTTATAACCATCACCAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0206 a0001c0002t0005g0206	1	230	0.0044	623	c.724 others(642): Show c.724-10823_724-10822insGTGGTGATGGTTATAACTGGTGGTGG TGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAGTGATG GTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGT GGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTCCTATC CCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTGGCATT GGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTG GTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTGGT GGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTGG TTATAGTAGTGATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGT TATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTGGTGGTGATGA TGATGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
EXOC3L4_chr14_103089725_103115559	103109579	T T	TCCTCCCT others(616): Show TCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCC GTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCA CCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGT CTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCT GTCCCCATGTCTCCCTCCCTCCCTTCCTCTCCACCCTGTCCCCGTGTCTC CCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCTCCCTCCC TCTCCACCCTGTCCCCGTGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCC CCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTC CCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCT CCACCCTGTCCCCATGTCTCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0241 a0002c0025t0001g0241	1	404	0.0025	623	c.197 others(640): Show c.1977-431_1977-430insTCCCCGTGTCTCCCTCCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCC GTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCA CCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGT CTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCT GTCCCCATGTCTCCCTCCCTCCCTTCCTCTCCACCCTGTCCCCGTGTCTC CCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCTCCCTCCC TCTCCACCCTGTCCCCGTGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCC CCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTC CCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCT CCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTG	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(616): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	623	c.31 others(634): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(616): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCC CGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA19002.hp2 NA18942.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	422	0.0047	623	c.31 others(634): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGG GGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(616): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAACCACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0044 a0001c0001t0021g0044	1	422	0.0024	623	c.31 others(634): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(616): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAACCACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCC CGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	623	c.31 others(634): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(616): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	188	0.0053	623	c.109 others(642): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
IDE_chr10_92446684_92579093	92524517	A A	ATATATTA others(616): Show ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATATATAATATATATTATATTATATATAATATA TTTTATATAATATATAATATATATTATATTATATATAATATATTTTATAT AATATATAATATATATTATATTATATATAATATATTTTATATAATATATA ATATATATTATATTATATATAATATATTTTATATAATATATAATATATAT TATATTATATATAATATATTTTATATAATATATAATATATATTATATTAT ATATAATATATTTTATATAATATATAATATATATTATATTATATATAATA TATTTTATATAATATATAATATATATTATATTATATATAATATATTTTAT ATAATATATAATATATATTATATTATATATAATATATATTATATAATATA TAATATATATTATATTATATATAATATATAAAATATAATATATATTATAT TATATATATTATATATAAAATATAATATATATTATATTATATATAATATA TTTTATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	314	0.0032	623	c.661 others(640): Show c.661+7230_661+7231insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATTTTATATATAATATATATAATAT AATATATATTATATTTTATATATTATATATAATATAATATATATTATATA TTATATAATATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAATATATATTATATATTATAT AAAATATATTATATATAATATAATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATAAAATATATTATATAT AATATAATATATATTATATATTATATAAAATATATTATATATAATATAAT ATATATTATATATTATATAAAATATATTATATATAATATAATATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFFO2_chr1_18899280_18961676	18926017	A A	ATGGATGG others(616): Show ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATTGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0059 a0001c0002t0010g0059	1	376	0.0027	623	c.666 others(640): Show c.666-4897_666-4896insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322319	T T	TATATATG others(616): Show TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATACATGGAATATATATATGGAATATATACATGG AATATATATATGGAATATATACATGGAATATATATATGGAATATATACAT GGAATATATATATGGAATATATACATGGAATATATATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATATGTATATGGAATATATACATGGAATATGTATATG GAATATATACATGGAATATACATATATGGAATATATACATGGAATATACA TATATGGAATATATACATGGAATATATATATGGAATATATACATGGAATA TATATATATGGAATATATACATGGAATATATATATATGGAATATATACAT GGAATATATACATGGAATATATACATGGAATATATACATGGAATATATAC ATGGAACATATATATATGGAACATATACGGAATATATATATGGAATATAT ATACGGAATATATATATATGGAATATATATACGGAATATATATATGGAAT ATATATACGGTATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	323	0.0031	623	c.-27 others(634): Show c.-2737_-2736insATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATACATGGAATATATATAT GGAATATATACATGGAATATATATATGGAATATATACATGGAATATATAT ATGGAATATATACATGGAATATATATATGGAATATATACATGGAATATAT ATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAAT ATATGTATATGGAATATATACATGGAATATATGTATATGGAATATATACA TGGAATATGTATATGGAATATATACATGGAATATACATATATGGAATATA TACATGGAATATACATATATGGAATATATACATGGAATATATATATGGAA TATATACATGGAATATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATACATGGAATATATACATGGAATATAT ACATGGAATATATACATGGAACATATATATATGGAACATATACGGAATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATACGGA ATATATATATGGAATATATATACGGTATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2650		chr21	TogoVar
INS_chr11_2154779_2166209	2161933	G G	GACCCCTG others(616): Show GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTG TCCCCACACCCCTGTCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGA CCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCTGTCCCCACACC CCTGTCCCCAGGACCCTGTCCCCACACACCCCTGTCCCCACACCCCTGTC CCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCAGGACCCCTGTCCCCACACCCCTGTCCCAGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCAGGACCCCTGTCCCCACACCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCC CGGACCCCTGTCCCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	623	c.-78 others(632): Show c.-784_-783insTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGGGACAGGGGTCCGGGGGACAGGGGT GTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCCTGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTG GGGACAGGGGTGTGTGGGGACAGGGTCCTGGGGACAGGGGTGTGGGGACA GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGG GGTGTGGGGACAGGGGTCCTGGGACAGGGGTGTGGGGACAGGGGTGTGGG GATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		725		chr11	TogoVar
KIF25_chr6_167992671_168050091	167997264	G G	GCGGGGGA others(616): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGAC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGA ATCTGCAGAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGCGACGGGGG AATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	375	0.0027	623	c.-22 others(634): Show c.-2205_-2204insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCT GCAGAGATGGGGGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCGGGGGAATCTGCAGAG ATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGACGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(616): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAAT ATATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATTG TAAATATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTA TATATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATAT GTATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTT TGTAAATATATACATTTTGTAAATATATAAATATATACATTTTGTAAATA TATAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATA TATAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAA TATATATATATTTTGTAAATATATATAAATATATACATATTTTGTAAATA TATAAATATATACATATTTTGTAAATCTATATAAATATATACATATTTTG TAAATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02074.hp2 NA18612.hp1 others(6): Show HG00673.hp2 HG02074.hp2 NA18612.hp1 NA18947.hp2 NA18950.hp1 NA18953.hp1 NA18982.hp1 NA18986.hp1 NA19011.hp2	a0005 a0029 a0005 a0029	a0005c0006 a0005c0037 a0029c0036 a0005c0006 a0005c0037 a0029c0036	a0005c0006t0001 a0005c0006t0003 a0005c0037t0001 others(1): Show a0005c0006t0001 a0005c0006t0003 a0005c0037t0001 a0029c0036t0001	a0005c0006t0001g0011 a0005c0006t0001g0038 a0005c0006t0001g0040 others(6): Show a0005c0006t0001g0011 a0005c0006t0001g0038 a0005c0006t0001g0040 a0005c0006t0003g0016 a0005c0006t0003g0026 a0005c0006t0003g0036 a0005c0006t0003g0037 a0005c0037t0001g0025 a0029c0036t0001g0041	9	330	0.0273	623	c.197 others(642): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA TTTACAAAATATGTATATATTTATATATATTTACAAAATATATATATATT TACAAAATATATATATTTATATATTTACAAAATATATATATTTTTATATA TTTACAACATATATTTTTATATATTTACAAAATGTATATATTTTTATATA TTTACAAAATGTATATATTTATATATTTACAAAATGTATATATTTACAAA ATATATATACATATTTACAAAATATATATATTTACAAAATATATATACAT ATTTACAAAATATATATATTTACTATATATATTTACAAAATATATATATA ATTTACAATATATATATAATTCACAAAATATATATTTATATATATTTACA ATATATATTTACAAAATATATATATATTTACAAAATATATATTTATATAT TTACAAAACATATATATATTTATATATATTTACAAAACATATATATTTAT ATATATTTACAAAACATATATATTTATATATATTTACAAAACATATATAT TTATATATATTTACAAAACATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(616): Show GTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAAATAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAA ATATATATATGTTTTGTAAATATATAAATATATATTTTGTAAATATATAT ATATTTTGTAAATATATATTGTAAATATATATAAATATATATTTTGTGAA TTATATATATATTGTAAATTATATATATATTTTGTAAATATATATAGTAA ATATATATATTTTGTAAATATGTATATATATTTTGTAAATATATATATTT TGTAAATATGTATATATATTTTGTAAATATATACATTTTGTAAATATATA AATATATACATTTTGTAAATATATAAAAATATATACATTTTGTAAATATA TAAAAATATATGTTGTAAATATATAAAAATATATATATTTTGTAAATATA TAAATATATATATTTTGTAAATATATATATATTTTGTAAATATATATAAA TATATACATATTTTGTAAATCTATAAATATATACATATTTTGTAAATCTA TATAAATATATACATATTTTGTAAATCTATATAAATATATACATATTTTG TAAATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0001 a0005c0038t0001	a0005c0038t0001g0033 a0005c0038t0001g0033	1	330	0.0030	623	c.197 others(642): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATAGATTTACAAAATATGTATATATT TATATATATTTACAAAATATATATATATTTACAAAATATATATATTTATA TATTTACAAAATATATATATTTTTATATATTTACAACATATATTTTTATA TATTTACAAAATGTATATATTTTTATATATTTACAAAATGTATATATTTA TATATTTACAAAATGTATATATTTACAAAATATATATACATATTTACAAA ATATATATATTTACAAAATATATATACATATTTACAAAATATATATATTT ACTATATATATTTACAAAATATATATATAATTTACAATATATATATAATT CACAAAATATATATTTATATATATTTACAATATATATTTACAAAATATAT ATATATTTACAAAATATATATTTATATATTTACAAAACATATATATATTT ATATATATTTACAAAACATATATATTTATATATATTTACAAAACATATAT ATTTATATATATTTACAAAACATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAEA_chr4_1284891_1345137	1317139	G G	GCAGGCCC others(616): Show GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCG GTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCA GACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAG GCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCAC CCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCC CAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCA GCCCCCACACTCCAGACTCACCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	388	0.0026	623	c.456 others(640): Show c.456+1574_456+1575insCGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCAC ACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCAC CCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACC CCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTC CAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGC AGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAG CCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCA GACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(616): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGG GTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGGGAGGGGGAGGGGGA GGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGG GAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGA GGGGGAGGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0004 a0003c0003t0017g0004	1	272	0.0037	623	c.250 others(638): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCCTCCCTCCC TTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCCTCCCCCTCCACT CCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCC CCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCC TCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCC TCCCCCTCCCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTT CCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTT CCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTC CCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(616): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCGTCCCCT CCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	140	0.0071	623	c.114 others(642): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCT CCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(616): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCG GCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAAC CCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACC CCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	394	0.0025	623	c.-8+ others(636): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189536	A A	ATTATATA others(616): Show ATTATATATATATAAAATCTTATTTTATATATATTTTATATATATAAAAT CTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTT TATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTA TTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATA TATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATA TAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT TATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTT ATATATATTTTATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0077 a0001c0001t0029g0077	1	330	0.0030	623	c.-5+ others(638): Show c.-5+3061_-5+3062insAGATTTTATATATAAAATATATATAAAATA AGATTTTATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGAT TTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAT ATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTA TATATATAAAATATATATAAAATAAGATTTTATATATATATAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136535933	G G	GGTGGGTG others(616): Show GGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTG CAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCA ATGGGTGCAGGGTGGGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGGGTGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0188 a0001c0017t0003g0188	1	324	0.0031	623	c.140 others(640): Show c.140+8090_140+8091insTCCCACCCTGCACCCATTGCCCCGGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCCCACCCACCCTGCACCCATTGCC CCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACC CATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRXN2_chr11_64601174_64728197	64706173	T T	TATATATT others(616): Show TATATATTATATATATAAAGTATATATATAATATATATAAATATATATTA TATATATAAAGTATATATATAATATATATTATATATATAAAGTATATATA TAATATATATAATATATATTATATATATAAAGTATATATATAATATATAT AATATATATTATATATAAAAAGTATATATATAATATATATAATATATATT ATATATATAAAGTATATATATAATATATATAATATATATTATATATATAA AGTATATATATTATATATATAATATATATTATATATATAAAGTATATATA TAATATATATAATATATATTATATCTAAAGTATATTATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGT ATATATATATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATATAAAGTATATATATAATATATATTATA TATAAAGTATATATATAATATATATTATATATATATAAATATATAATATA TATTATATATATAAGATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	308	0.0033	623	c.730 others(640): Show c.730+6796_730+6797insTATATATATCTTATATATATAATATATA TTATATATTTATATATATATAATATATATTATATATATACTTTATATATA ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATATATATATACTT TATATATATAATATATATTATATATATTATATATATACTTTATATATATA ATATATATTATATATATTATATATATACTTTATATATATAATATATATTA TATATATTATAATATACTTTAGATATAATATATATTATATATATTATATA TATACTTTATATATATAATATATATTATATATATAATATATATACTTTAT ATATATAATATATATTATATATATTATATATATACTTTATATATATAATA TATATTATATATATTATATATATACTTTTTATATATAATATATATTATAT ATATTATATATATACTTTATATATATAATATATATTATATATATTATATA TATACTTTATATATATAATATATATTATATATATACTTTATATATATAAT ATATATTTATATATATTATATATATACTTTATATATATAATATAT	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(616): Show TGTCTCCTCTCCTCGCCTCGCCTCGCCTCGCCTCGCCTCGCCTCGCCCCG CCCCGCCCCGCCCGCCCCGCCCCCGCCCCGCCCCGCCCCGCCCCGCCCCG CCCCCGCCCCGCTCCCCTCCGCTCCGCTCCGCCCCGCCCCGCCCCGCCCC GCCCCGCCCCGCCCCGCCCCGCCCCGCTCCGCCCCGCCCCGCCCCGCCCC CCGCCCCGCCCCGCCCCGCCCCGCCCCGCCTCGCCTCGCCCCGCCTCTCC TCCCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCT CTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTAC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCACCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCCTCCCCTC CCCTCCCCCTTCCCCTCCCCCTCCCGCTTCCCCCTCCCCTCCCCTCCCCC TCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0306 a0001c0001t0005g0306	1	326	0.0031	623	c.433 others(640): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGGAAGGGGGAGGGG GAGGGGAGGGGAGGGGGAAGCGGGAGGGGGAGGGGAAGGGGGAGGGGAGG GGAGGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAG GGGAGAGGGGAGGGTGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGTAG GAGAGGAGAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGGG GAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGGGAGGAG AGGCGGGGCGAGGCGAGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGG CGGGGCGGGGCGGGGCGGAGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGG CGGGGCGGGGCGGGGCGGAGCGGAGCGGAGGGGAGCGGGGCGGGGGCGGG GCGGGGCGGGGCGGGGCGGGGCGGGGGCGGGGCGGGCGGGGCGGGGCGGG GCGAGGCGAGGCGAGGCGAGGCGAGGCGAGGCGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(616): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGG GAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	155	0.0065	623	c.155 others(642): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(616): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTACACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAACAAAA AGAGATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0285	1	378	0.0027	623	c.876 others(638): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGG AGTGTAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCA CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTAGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCC AACTCTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCAC AAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGG AGGCTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
PIGN_chr18_62036164_62192056	62039600	C C	CCATGTTT others(616): Show CCATGTTTAGGGCCCCATCCAGAGTGCCGCAACCCCATGATTAGGGCCCA TTCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGGGTGCCGCACCCC ATGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATC CAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGAGTGCCGCACCCCAT GTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCA GGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGT TTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGG GTGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTT TAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGAG TGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTT AGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTG CCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAG GGCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0037 a0001c0003t0008g0037	1	342	0.0029	623	c.62 others(634): Show c.6255_*6256insATGTGCGGCACCCTGGATGGGGCCCTAAACATGG GGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCT GGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGG TGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGG GGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGT GCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGG GCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTG CGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGC CCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCG GCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGAATGGGCCCTAA TCATGGGGTTGCGGCACTCTGGATGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1563		chr18	TogoVar
PLCXD1_chrX_276381_308356	280556	A A	AGGGAGGC others(616): Show AGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAGGCCG TGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGA AGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCC GTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAG AGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGGAGGCC GTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGG AAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGC CGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCA GAGGGGAAGACGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGC CGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCG GAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGG CCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGC GGAGCGGGGGCCGTGCAGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0108 a0008c0011t0108	a0008c0011t0108g0022 a0008c0011t0108g0022	1	176	0.0057	623	c.-11 others(634): Show c.-1150_-1149insGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAG GGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGA GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAG GGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGG AGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCA GGCGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGG AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCA GGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAGGCCGTGC AGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTG CAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGG GGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		824		chrX	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(616): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCGGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATATATTA TATATGTGTATATATATATATATATATTATATATGCATATTATGTTTAGG ACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTTAGACCCCATT CATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGTTAGGAACTGT GGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01081.hp1 others(1): Show HG00140.hp1 HG00733.hp2 HG01081.hp1 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 others(1): Show a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0003g0296	4	320	0.0125	623	c.98- others(638): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCGGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATATATTATATATGTGT ATATATATATATATATATTATATATGCATATTATGTTTAGGACACAGCTG AGGAAAAGGGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCT CTCAGGTGTTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTT GTGGCCACTGAGGACAAAAAAAATGGGTGTCACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(616): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGT GGGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGA GACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGA GGTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	382	0.0026	623	c.-25 others(634): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCCGCCGTCTCCCACCACCTCC CACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCC CACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCC GTCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACC ACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACC ATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACC ACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACC ACCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACC ACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACT GTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(616): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	252	0.0040	623	c.139 others(642): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGT GGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRH_chr19_55176247_55214501	55207842	G G	GACCTCTG others(616): Show GACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTG AGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCT GGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGG AGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGG GGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTCGACCTC TGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAG GAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGT CTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGA GGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGG ACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTCA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0295 a0002c0002t0002g0295	1	378	0.0027	623	c.52- others(636): Show c.52-644_52-643insTGAGACCCCCAGCCCCTCCTCCCTCAGACCCA GGCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCC CTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAG CCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCA GACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGA GACCCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCC CTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAA CCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA CCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTA CTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCA GGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGT	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208009	A A	AGGGGCTG others(616): Show AGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCC TGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGT CTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAG GTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGA CTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTC CTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAGGGGCTGGGG GTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGA GTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAG GGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT GGACTCCTGGGTCTGAGGGAGGAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	378	0.0027	623	c.52- others(636): Show c.52-811_52-810insCTCCTCCCTCAGACCCAGGAGTCCAGACCCCC AGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTACTCCC TCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGT CCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCC CCTCCTCCCTCAGACCCAGGCCCCCAGGCCCCCAGGCCCTCCTCCCTCAG ACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAG GCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCC AGGAATCCAGACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACC CCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTC CCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGA ATCCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCA ACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(616): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATAATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA18948.hp2 HG02056.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0208 a0001c0001t0001g0155 a0001c0001t0001g0208	2	374	0.0054	623	c.-46 others(634): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATAATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGAT GGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCGGAG others(616): Show GGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGG GGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACA AGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG GGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATG GGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGT GGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGA GAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGA GGGAGGGTGGAGAGATGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0194 a0001c0006t0001g0194	1	312	0.0032	623	c.188 others(642): Show c.1882-1434_1882-1433insGCGGAGGGGAGGGTGGAGAGATGGGG GTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAG ATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGG AGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGT GGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG CGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAG AGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGG GAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGG TGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGG GTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(616): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGG GTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0028 a0008c0013t0028	a0008c0013t0028g0241 a0008c0013t0028g0241	1	292	0.0034	623	c.261 others(640): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTG TGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGG GTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGG GGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGA GTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(616): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAATATATATACATATAAAATATATACA TATAAAATATATATACATATGTTTTATATGTATATATACATATAAAACAT ATATACATATGTTTTATATGTATATATACATATAAATATATATACATATG TTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp2 HG03704.hp1 others(4): Show HG00558.hp2 HG02080.hp2 HG03704.hp1 NA18981.hp2 NA18988.hp2 NA18990.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0264 a0001c0001t0001g0265 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0279	7	300	0.0233	623	c.626 others(640): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAACATATAT ACATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTT ATATGTATATATATACATAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(616): Show TAAAATATATATACGTATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAATATATATACATATAAAATATATACA TATAAAATATATATACATATGTTTTATATGTATATATACATATAAAACAT ATATACATATGTTTTATATGTATATATACATATAAATATATATACATATG TTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	300	0.0033	623	c.626 others(640): Show c.626+5422_626+5423insGTATGTTTTATAAGTGTATATATACACA TATAAAATATATATACATATGTTTTATAAGTGTATATATACACATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGT TTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTATATATACATATAAA ATATATATACATATGTTTTATATGTATATATACATATAAAATATATATAC ATATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAA TATATACATATAAAATATATATACATATGTTTTATATGTATATATACATA TAAAACATATATACATATGTTTTATATGTATATATACATATAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATAC	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC45A1_chr1_8313114_8349165	8322284	A A	ATGGATGG others(616): Show ATGGATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGG GTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGTGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCGTGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGATGGATGGGTGGGTGGATG GATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGA TGGGTGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20300.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0165 a0001c0002t0001g0166	2	388	0.0052	623	c.-24 others(640): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGTGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCGTGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTG GGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322284	A A	ATGGATGG others(616): Show ATGGATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGG GTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGTGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCGTGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGGTGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGATGGATGGGTGGGTGGATG GATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGA TGGGTGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02615.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	2	388	0.0052	623	c.-24 others(640): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGTGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCGTGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGGTGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTG GGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322288	A A	ATGGATGG others(616): Show ATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCAT GGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGG ATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGA TGGGTGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02523.hp1 HG03017.hp2 others(1): Show HG02074.hp2 HG02523.hp1 HG03017.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0271 a0001c0003t0002g0268 a0001c0003t0002g0269 others(1): Show a0001c0003t0001g0271 a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270	4	388	0.0103	623	c.-24 others(640): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGG GTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGAT GGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGG ATGGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGAT GGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGC GTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGAT GGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGG GTAGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(616): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGG GTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGG GGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAG GGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGC GCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATG CGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG02965.hp2 others(1): Show HG02572.hp2 HG02818.hp2 HG02965.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0043 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0043 a0001c0001t0044	a0001c0001t0003g0317 a0001c0001t0014g0316 a0001c0001t0043g0291 others(1): Show a0001c0001t0003g0317 a0001c0001t0014g0316 a0001c0001t0043g0291 a0001c0001t0044g0314	4	352	0.0114	623	c.-12 others(634): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCT CACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGC CCCTCACCCCTCACCCGCGCGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(616): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGG GTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGG GGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAG GGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGC GCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATG CGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0293 a0001c0001t0014g0294 a0001c0001t0014g0293 a0001c0001t0014g0294	2	352	0.0057	623	c.-12 others(634): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCT CACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGC CCCTCACCCCTCACCCGCGCGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(616): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGG GTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGG GGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAG GGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGC GCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATG CGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0328 a0001c0001t0012g0328	1	352	0.0028	623	c.-12 others(634): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCT CACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGC CCCTCACCCCTCACCCGCGCGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(616): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGG GTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGG GGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAG GGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGC GCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATG CGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	352	0.0028	623	c.-12 others(634): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCT CACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGC CCCTCACCCCTCACCCGCGCGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(616): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGAAGGGAGGGAGGGAGA GGGAGGCAAGGAGGGAGGAGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGG GAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGGGAGGGTGGGAGGG AGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAGGTGG GAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGT GGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGG GTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGT GGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGAGGGAGAGGG AGGCAGGGAGACAGGGAGGCAGGGAGGAGGGAGAGGGAGGCAGGGAGGGA GGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGG GAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGA GGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	132	0.0076	623	c.227 others(642): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCTCCCTGCCTCCCTGTCTCCCTGCCTCC CTCTCCCTCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCAC CCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC ACCTCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCC CTCCCACCCTCCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCTCCTCCCTCCTTGCCTCCCTC TCCCTCCCTCCCTTCCTGCCTCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(616): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATTATGTATAATATATAT TATATATTATATATATTATGTATAATATATATTATATATTATATATATAT TATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATATTATATATATTATGT ATAATATATATTATATATTATATATATATTATATATATTATGTATAATAT ATATTATATATTATATATATATTATATATATTATGTATAATATATATTAT ATATTATATATATATTATATATATTATGTATAATATATATTATATATTAT ATATATATTATATATATTATGTATAATATATATTATATATTATATATATA TTATATATATTATGTATAATATATATTATATATTATATATATATTATATA TATTATGTATAATATATATTATATATTATATATATATTATATATATTATG TATAATATATATTATATATTATATATATATTATATATATTATGTATAATA TATATTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0209 a0001c0001t0016g0209	1	310	0.0032	623	c.784 others(638): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATATTATACATAATATATATAATATATATATAATATATAATA TATATTATACATAATATATATAATATATATATAATATATAATATATATTA TACATAATATATATAATATATATATAATATATAATATATATTATACATAA TATATATAATATATATATAATATATAATATATATTATACATAATATATAT AATATATATATAATATATAATATATATTATACATAATATATATAATATAT ATATAATATATAATATATATTATACATAATATATATAATATATAATATAT ATTATACATAATATATATAATATATAATATATATTATACATAATATATAT AATATATATATAATATATAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(616): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTG TGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTG TTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0009 a0001c0008t0001g0009	1	356	0.0028	623	c.245 others(640): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACA GGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGA CAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(616): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0304 a0001c0001t0005g0304	1	322	0.0031	623	c.597 others(640): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(616): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATAATATAA CTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	268	0.0037	623	c.73 others(634): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATAATATAACTATATATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(616): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TATTATATATATTATATATTATATAACTATATATTATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATAATATAA CTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0180 a0001c0001t0023g0180	1	268	0.0037	623	c.73 others(634): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATATTATATATATTATATATTATATAACTATATATT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATAATATAACTATATATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar

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Search Results (Total: 10000 hits)