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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EIF3B_chr7_2349827_2385745	2377567	T T	TGTGTTCT others(953): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	384	0.0052	960	c.215 others(977): Show c.2154+583_2154+584insTGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCA		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377659	A A	AGGAGGAA others(953): Show AGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0321 a0001c0003t0001g0321	1	384	0.0026	960	c.215 others(977): Show c.2154+606_2154+607insTCTCCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCC GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC GCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTC TCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA ATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(953): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	288	0.0035	960	c.190 others(979): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGAGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(953): Show GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGG GAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAAGAAGGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19043.hp1 HG01884.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0036 a0001c0001t0024 a0001c0001t0036	a0001c0001t0024g0055 a0001c0001t0036g0094 a0001c0001t0024g0055 a0001c0001t0036g0094	2	96	0.0208	960	c.-16 others(981): Show c.-168+57738_-168+57739insGTCCCTTCTTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCC CTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTC TTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCT CCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCC TTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCC		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
GALR1_chr18_77244848_77282900	77252986	C C	CCACCACC others(953): Show CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ATCACCACCAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0228 a0001c0002t0031g0228	1	366	0.0027	960	c.666 others(977): Show c.666+1774_666+1775insCCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCATCACCACCACCATCACCACCATCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(953): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATCCCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACA TCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATC CCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCTCCTCAGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATCCCCCCTCCCT CCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG GGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGG GACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0022 a0002c0005t0001g0022	1	143	0.0070	960	c.35 others(971): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGA GGGAGGGGGGATGTGCCCTGAGGAGGGAGGGGGGATGTGTCCCGTGGGGG GAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGA GGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGG GGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGG GGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGG ATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGGGGGAGGGGGGAT GTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGT GCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGT CCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCG AGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTG GGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGA GGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGG GAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTGGGGGGA GGGGGGATGTGTCCCGTGGGGGGAGG		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3231		chr13	TogoVar
GAS6_chr13_113815549_113869076	113824415	C C	CGCGCGGT others(953): Show CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGT CTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCG GGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGG GGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAG CACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTC TGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACG CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAG CTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCG GTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGT CGGGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCT GGGGTCTGAGCTGTCGGGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGG AGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGG TCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCA CCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCTATGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCAGTCTGGGGTCTGAGCTGTCGGGAGCACGCG GGGTCTGGGGTCTGAGCTGTCGGGAGCACCTGCGGTCTGGGGTCTGAGCT GTCGGGAGCAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0004 a0001c0003t0005g0004	1	143	0.0070	960	c.147 others(977): Show c.1478-866_1478-865insATGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCCCGCGTGCTCCCGACAGC TCAGACCCCAGACTGCGCGTGCTCCCGACAGCTCAGACCCCAGACCATAG GTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAG ACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGC TCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCC CAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCC GACAGCTCAGACCCCAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGA CCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACA GCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGC GCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTC AGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGT GCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGAC CCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTC CCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCA GACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGA CAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACC GCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGC TCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGC GTGCTCCCGACAGCTCAGACCCCAGACCGCGC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14						chr13	TogoVar
GMDS_chr6_1618806_2250605	2201390	A A	AAACCATC others(953): Show AAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGA AGAGAGAGCACCACATGCACATCTGAGATGAAACCATCTAGGCAGTGAGG GCAGCATGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGGGC ATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGG TGAAGGATGAAGACAGAACACCACATGGACATCCGAGATGAAACCATCTA GGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCA CCACATGGGCATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTT AGCAGAGAGGTGAAGGATGAAGACAGAGCACCACATGGGCATCCGAGATG TAACCATCTAGGCAGTGAGGACAGCATGTTAGCAGAGAGGCGAAGGATGA AGAGAGAGCACCACATGGGCATCCGAGATGAAACCATCTAGGCAGTGAGG GCAGCATGTTAGCAGGGAGGTGAAGGATGAAGAGAGAGCACCACATGGAC ATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGG TGAAGGATGAAGAGAGAGCACCACATGGGCATCCGAGATGAAACCATCTA GGCAGTGAGGGCAGCGCGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCA CCACATGCACATCCGAGATGTAACCATCTAGGCAGTGAGGGCAGCATGTT AGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGGACATCCGAGATG TAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGA AGAGAGAGCACCACATGCACATCTGAGATGAAACCATCTAGGCAGTGAGG GCAGCATGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGGAC ATCCGAGATGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG02970.hp1 others(2): Show HG02486.hp1 HG02723.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 others(2): Show a0001c0001t0001g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0002t0001g0093 a0001c0002t0001g0117	5	166	0.0301	960	c.102 others(979): Show c.102+43930_102+43931insACATCTCGGATGTCCATGTGGTGCTC TCTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGAT GGTTTCATCTCAGATGTGCATGTGGTGCTCTCTCTTCATCCTTCACCTCT CTGCTAACATGCTGCCCTCACTGCCTAGATGGTTACATCTCGGATGTCCA TGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCA CTGCCTAGATGGTTACATCTCGGATGTGCATGTGGTGCTCTCTCTTCATC CTTCACCTCTCTGCTAACGCGCTGCCCTCACTGCCTAGATGGTTTCATCT CGGATGCCCATGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAACAT GCTGCCCTCACTGCCTAGATGGTTTCATCTCGGATGTCCATGTGGTGCTC TCTCTTCATCCTTCACCTCCCTGCTAACATGCTGCCCTCACTGCCTAGAT GGTTTCATCTCGGATGCCCATGTGGTGCTCTCTCTTCATCCTTCGCCTCT CTGCTAACATGCTGTCCTCACTGCCTAGATGGTTACATCTCGGATGCCCA TGTGGTGCTCTGTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCA CTGCCTAGATGGTTTCATCTCGGATGCCCATGTGGTGCTCTCTCTTCATC CTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGATGGTTTCATCT CGGATGTCCATGTGGTGTTCTGTCTTCATCCTTCACCTCTCTGCTAACAT GCTGCCCTCACTGCCTAGATGGTTTCATCTCGGATGCCCATGTGGTGCTC TCTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGAT GGTTTCATCTCAGATGTGCATGTGGTGCTCTCTCTTCATCCTTCACCTCT CTGCTAACATGCTGCCCTCACTGCCTAGATGGTT		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10						chr6	TogoVar
HPCAL1_chr2_10297904_10432604	10399220	C C	CCACCACC others(953): Show CCACCACCACCGCCGCTGCCGCTACCACCATCACCACCGCCACCACCACC ACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCAC CATCACCATCATCACCGCCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCATCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCA TCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACC ACCACCACCATCACCACCACCATCACCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCATCACCACCACCATCATCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCATCACCATCATCACCACCACCACCACCACCATCAC CACCACCATCACCATCACCATCACCATCACCACCACCATCATCACCACCA CCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCATCATCACCACCATCACCACCACCACCATCACCACCACCAC CACCATCACCACCACCATCACCATCATCACCGCCACCACCACCACCATCA CCACCACCATCACCACCACCACCACCATCACCACCACCATCACCATCATC ACCGCCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCATCATCACCACCATCACCACCACCACC ACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20300.hp2 HG02809.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0113 a0001c0001t0005g0273 a0001c0001t0003g0113 a0001c0001t0005g0273	2	314	0.0064	960	c.-25 others(977): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCG CCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACC ATCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ATCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCATCATCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACC ACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCATCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCATCACCACCACCATCACCATCATCACCACCACCACC ACCACCATCACCACCACCATCACCATCACCATCACCATCACCACCACCAT CATCACCACCACCACCACCGCCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCATCATCACCACCATCACCACCACCACCATC ACCACCACCACCACCATCACCACCACCATCACCATCATCACCGCCACCAC CACCACCATCACCACCACCATCACCACCACCACCACCATCACCACCACCA TCACCATCATCACCGCCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCATCATCACCACCATCA CCACCACCACCACCACCACCATCACCACCACC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33323045	C C	CGTATGGA others(953): Show CGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAA TATATACGTATGGAATATATATATATGGAATATATACGTATGGAATATAT ATATGGAATATATACGTATGGAATATATATATATGGAATATATACGTATG GAATATATATATATGGAATATATACGTATGGAATATATATATATGGAATA TATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATATATGGAATATATATGTATGGAATATATATATATGGAAT ATATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTAT GGAATATACATATGGAATATATATGTATGGAATATACATATGGAATATAT ATGTATGGAATATACATATGGAATATATATGTATGGAATATATATATATG GAATATATGTATGGAATATATATATGGAATATATGTATGGAATATATATA TATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATA TATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTAT GGAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	323	0.0031	960	c.-20 others(971): Show c.-2011_-2010insGTATGGAATATATATATGGAATATATACGTATGG AATATATATATGGAATATATACGTATGGAATATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATATG GAATATATACGTATGGAATATATATATATGGAATATATACGTATGGAATA TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATAT ATACGTATGGAATATATATATATATGGAATATACGTATGGAATATATATA TATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATA TATATATATGGAATATATATGTATGGAATATATATATGGAATATATATGT ATGGAATATATATATGGAATATATATATATGGAATATATATGTATGGAAT ATATATATATGGAATATATGTATGGAATATATATGTATGGAATATATATA TGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATACATATGGAATATATATGTATGGAATAT ACATATGGAATATATATGTATGGAATATACATATGGAATATATATGTATG GAATATATATATATGGAATATATGTATGGAATATATATATGGAATATATG TATGGAATATATATATATGGAATATATGTATGGAATATATATATATGGAA TATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATAT ATGGAATATATGTATGGAATATATAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1924		chr21	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(953): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCC CTTATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGC ATGCATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTG ATACATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCC TTTCAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGAC AAGCCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGG CACTGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGC CGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTT CCTTCCTTTCCCTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTC TCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0029 a0001c0004t0029g0029	1	114	0.0088	960	c.56- others(977): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAGGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGGAGGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGA CAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCTAGACCACCTGGGGG TAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTCCAGAACTGGACAGC TGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGATTACAAAATAAGGA AACACAGAGATGCCTACCTTCAGCAGGATGTATCAACCCTGTCACACACA GCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCCCAGGTCAGCTCATA CCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGCTATAAGGGCTGTTG TCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTTCCT TCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTCTCT CTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGTAACAA GTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGTATGCA GCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCACCAGG TTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCATTCGC AGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCAGGACAG AAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(953): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGG CTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTATGCAGCTCAGATG CCCACTCCATGACAGGTATGAGCTGACCTGGGCATGCATTCTCTGCAGGG AGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACATCCTGCTGAAGG TAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGCCTTCTGAAT CCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGCTACTCAGTG GAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGGCTACAGAGG GCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCT TTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTT CCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTC TCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0083 a0001c0004t0014g0083	1	114	0.0088	960	c.56- others(977): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCG GCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTG CCTAGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTT GTCCAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAA GGATTACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTAT CAACCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCAT GCCCAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAG GGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCT TTCCTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTCTCT CTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGTAACAA GTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGTATGCA GCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCACCAGG TTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCATTCGC AGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCAGGACAG AAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088656	A A	AGGGCAGG others(953): Show AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTATGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTTGCAGGG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGTAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGCAGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAG TGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGAT CTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGAT CTGTGCAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	960	c.-44 others(971): Show c.-4438_-4437insACTCTGCACAGATCCTGGCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTTCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCACAGATCATGGCCTCCCTGCACGGATC CTGGCCACTCTGCACGGATCCTGGCCACTCTGCACAGATCCTGCCTTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCTGCTCTGCACAGATC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTACCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTC TTCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCTTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCACCCTGCAAAGACCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCATAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGCCC		LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding					4259		chr20	TogoVar
LUC7L_chr16_183990_234449	186118	G G	GGGAGGAA others(953): Show GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAG CGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGAGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAAC AGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	350	0.0029	960	c.30 others(971): Show c.3079_*3080insTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC CTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2871		chr16	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(953): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCC CTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTC CCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTC CCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTC CCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTC CACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCC CTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCC CCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTT CCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCT CCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCC CTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCT CCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCC CCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCC CTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCT CCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0001 a0002c0036t0001	a0002c0036t0001g0233 a0002c0036t0001g0233	1	278	0.0036	960	c.115 others(977): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCC TCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCC CTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCTCCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCC CTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCC CTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTT CCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCT CCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCC CTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCC CCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTT CCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCC CCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTC TCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCT TCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACC CCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC		MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(953): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTTCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTTCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCTCCCCTCCCTTCCCCCC TCCCCTCCCCTCCCTTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCC CCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTC CCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCGTCCCCCCTCCCCTTCCC CCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTC CCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCC CCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCC CTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTC CCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCC TCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCC CCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCT CCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0275 a0002c0002t0029g0275	1	278	0.0036	960	c.115 others(977): Show c.1157+156_1157+157insCCTCCCCTCCCTTCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTTCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTTCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCTCCCCTCCCTTCCC CCCTCCCCTCCCCTCCCTTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCC TCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCC CTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCGTCCCCCCTCCCCTT CCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCC CTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCC TCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCC TCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCC TTCCCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTT CCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTC CCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCC CCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC		MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(953): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGGA GGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGA GGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGA GGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAG GGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGG GAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGGAGG GGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGG AGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGG GGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	272	0.0037	960	c.250 others(975): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCAC CCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTC CCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCC CCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGC CTTCCTCCTTCCCCCTCCTTCCCCCTCCTT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(953): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAG GGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGA GGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGG AGGGAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAG GGAGGAGGGAGGGAGTGGAGGGGGAGGGGGAGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGGAGG GGGGAGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGG AGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGG GGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	272	0.0037	960	c.250 others(975): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCTCCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC TCCCCCTCCCCCTCCACTCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTCCCTCCCCCTCCCCCTCCCTCTC TTCCCTCCCCCTCCCCCTCCCTCTCTTCCTCCCCCTCCCCCTCCCTCTCT TCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCAC CCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTC CCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCC CCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGC CTTCCTCCTTCCCCCTCCTTCCCCCTCCTT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(953): Show AAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01175.hp1 others(5): Show HG01081.hp1 HG01106.hp2 HG01175.hp1 HG03704.hp2 HG04184.hp2 HG04204.hp2 NA18968.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0025	a0001c0001t0021g0098 a0001c0002t0001g0073 a0001c0002t0001g0076 others(5): Show a0001c0001t0021g0098 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0002g0089 a0001c0002t0003g0079 a0001c0002t0003g0094 a0001c0002t0007g0105 a0001c0002t0025g0085	8	250	0.0320	960	c.225 others(977): Show c.225-2394_225-2393insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAT AAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6						chr22	TogoVar
MUC4_chr3_195741771_195816929	195783262	T T	TCGGTAAC others(953): Show TCGGTAACATGAAGAGGGGTGGCGTGACCTGTGGATAATGAGGAAGCATT GGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGG TGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTG ACAGGTAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGAC AGGAAGACGGGTGGTGTCACCTGTGGATACTGACGAAGCGTCGGTGACAA GAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGCCAGGA AGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAG AGGGGTGGCATGACCTGTGGATGCCGAGGAAACGTTGGTGACAGGAAGAC GGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTGACAGGAAGATGG GTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGT GGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGG TGTGACCTGAGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTG TGACCTGAGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGAC CTGAGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCACCT GTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGT GGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGG ATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTGGAT GCTGAGGAAGTGTCGGTGACAAGAAGAAGGATGGCGTGACCTGTGGATGC TGAGGAAGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp1	a0156 a0156	a0156c0106 a0156c0106	a0156c0106t0001 a0156c0106t0001	a0156c0106t0001g0144 a0156c0106t0001g0144	1	249	0.0040	960	c.831 others(969): Show c.8317_8318insGCCCTTCCTCAGCATCCACAGGTCACGCCATCCTTC TTCTTGTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTT CCTGTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTG TCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTC ACCAGCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCA GCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCAGC CCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGC TTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTT CCTCAGCATCCACAGGTCACGCCACCCATCTTCCTGTCACCGGCCTTTCC TCAGCTTCCACAGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTC GGCATCCACAGGTCATGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAG CATCCACAGGTGACACCACCCCTCTTCCTGGCACCGACACTTCCTCAGTA TCCACAGGTCACACCACCCCTCTTCTTGTCACCGACGCTTCGTCAGTATC CACAGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCATCTA CAGGTCACACCACCCCTCTACCTGTCACCGACACTCCCTCAGCATCCACA GGTGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGG TCACGCCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACAGGTC ACGCCACCCCTCTTCATGTTACCG	p.Asn others(973): Show p.Asn2773delinsSerProSerSerAlaSerThrGlyHisAlaIleLe uLeuLeuValThrAspThrSerSerAlaSerThrGlyGlnAlaThrProL euProValThrSerLeuSerSerAlaSerThrGlyAspThrThrProLeu ProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuPr oValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuProV alThrSerProSerSerAlaSerSerGlyHisThrThrProLeuProVal ThrAspAlaSerSerValSerThrGlyAspThrThrProLeuProValTh rSerProSerSerAlaSerSerGlyHisThrThrProLeuProValThrS erProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAsp AlaSerSerAlaSerThrGlyAspThrThrProLeuProValThrAspTh rSerSerAlaSerThrGlyHisAlaThrHisLeuProValThrGlyLeuS erSerAlaSerThrGlyAspThrThrArgLeuProValThrAsnValSer SerAlaSerThrGlyHisAlaThrProLeuProValThrSerThrSerSe rAlaSerThrGlyAspThrThrProLeuProGlyThrAspThrSerSerV alSerThrGlyHisThrThrProLeuLeuValThrAspAlaSerSerVal SerThrGlyAspThrThrArgLeuProValThrSerProSerSerAlaSe rThrGlyHisThrThrProLeuProValThrAspThrProSerAlaSerT hrGlyAspThrThrProLeuProValThrSerProSerSerAlaSerThr GlyHisAlaThrProLeuProValThrAsnAlaSerSerLeuSerThrGl yHisAlaThrProLeuHisValThrAsp	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8429/16756	8317/16239	2773/5412			chr3	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(953): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0091 a0001c0004t0002g0091	1	322	0.0031	960	c.46 others(971): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2866		chr18	TogoVar
NOTCH1_chr9_136489433_136551048	136535729	G G	GGAGCACT others(953): Show GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGG GGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGG GGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGG GGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGG GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTG GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0195 a0001c0008t0009g0195	1	324	0.0031	960	c.140 others(977): Show c.140+8294_140+8295insACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(953): Show AGAAGAGAGGGGAGGGGGGAGGAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGAGGGGACGGGAAGGGGGAGGGGAGGGGAAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGGAGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGGAGGG AGGGGAAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGG GAGGGGGGAGGGGAGGAGGTGGGAGGGGGAGGGGAGGACGGGGAGGGGAG GAGGGGGAGGGGAGGAGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGGGA GGAGGGGAGGAGGGTGAGGGGAGGAGGGTGAGGGGAGGAGGGGGAGGGGA GGAGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGG GAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAG GAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGT AAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGG AGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAAGGAAG GGAGGGGAGGGTGGGGGACGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAG GGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	208	0.0048	960	c.279 others(975): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCGTCCCCCACCCTCCCCTCCCTTCCTTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCTCCCCTCCCCCTCCTCCCCTCCTCCTCCTCCCCTCCCCCTCCTCCCC TCACCCTCCTCCCCTCACCCTCCTCCCCTCCTCCCTCCTCCTCTCACCCC TCCTCCCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCGTCCTCCC CTCCCCCTCCCACCTCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCTCCCC CTCCCCCTTCCTCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCC TCCCCCTTCCCGTCCCCTCCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCT CCCTTCCCTCCTCCCCCCTCCCCTCTCTTC		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29						chr1	TogoVar
NRXN3_chr14_78165373_79873291	79257457	G G	GTGGTGAT others(953): Show GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGCGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTAATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGCGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGTTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGATGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0011 a0001c0002t0015g0011	1	24	0.0417	960	c.326 others(983): Show c.3263-209759_3263-209758insATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGCGGTGGTGGTGGTGGTGATGGTAA TGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGATG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGCGGTGGTGGTGGTGG TGATGGTAATGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT AATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTG GTGATGGTGGTGGTGTTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NXN_chr17_794310_984776	841603	C C	CGACCACG others(953): Show CGACCACGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGC ATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCACACGGG CGAGCAGGTCCCCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTCC CCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACAG CGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCACAC GGGCGAGCAGGTCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGT CCACCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCTGACC ACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTC ATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGC AGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTG ACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCAT CTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCG AGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCC CCTGACCACGGAGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGC GCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACG GGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGT CCACCCTGACCACAGCGCATCTCACATGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTC ACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0150 a0004c0008t0002g0150	1	242	0.0041	960	c.361 others(979): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCATGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCA TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCTCGCCGGCATGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCG GGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATG CGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGG GGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCT GCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCAGGGGGACCTGCTCGCCCGTGTGAGATGCGCTG TGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGGGGA CCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGG CATGAGATGCGCTGTGGTCGGGGGGGACCTGCTCGCCCGTGTGAGATGCG CTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGA GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	841610	A A	AGCGCATC others(953): Show AGCGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCA CACGGGCGAGCAGGTCCCCCTGACCACGGCGCATCTCACACGGGCGAGCA GGTCCCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGAC CACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACAGCGCATCT CATGCCGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCACACGGGCGAG CAGGTCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCT GACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCATGCCGG CGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCC CCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGG CGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACAC CCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACC ACGGAGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTC ACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCACCCT GACCACAGCGCATCTCACATGGGCGAGCAGGTCCACCCTGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCA CGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	242	0.0041	960	c.361 others(979): Show c.361-15533_361-15532insCGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG TGGACCTGCTCGCCCATGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTC GCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCGGCATGAGATGCTCCGTGGTCAGGGGGGACCT GCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCG TGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGG GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCG CTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCAGGGGGACCTGCTCGCCCGTGTGAGA TGCGCTGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTC GGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC TCGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGA GATGCGCCGTGGTCAGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGG TCAGGGTGGACCTGCTCGCCGGCATGAGATGCGC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(953): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGGGGGAGAGGG GGAGAGGGGGAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAG GAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGA AGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGG CGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAG GGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAG AGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAG AGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGG CAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCA AGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGG AGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAG AGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0283 a0005c0003t0001g0283	1	308	0.0033	960	c.371 others(977): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCC TCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCC TCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCC TCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCC TCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCC TCCCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCC CCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCC CCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCC TCCCCCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCC TCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCC CCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTC CCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCC CCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCC CCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCC ATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC		PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29						chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(953): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAG GGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGGGGGAGAG GGGGAGAGGGGGAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGG GAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAG GGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAG AGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAG AGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAG AGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAG AGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAG AGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAG AGGGAGAGGGCGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAG AGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0125 a0004c0005t0001g0125	1	308	0.0033	960	c.371 others(977): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCC TCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTC TCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCTGCCCTCTC TCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTC TCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTC TCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTC TCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTC CCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTC CCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCC TCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCC CTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCT CCCCCTCCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCC TCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCC CCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTC CCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCC CCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCC CCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCC ATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC		PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29						chr16	TogoVar
PNPLA7_chr9_137454952_137555402	137502691	A A	ATGTGGGA others(953): Show ATGTGGGAGATGAGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCG GGGGACGGGGGGGACGCGGGGGACGCGGGGGGGACGCGGGGGACGCGGGG GACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGGGAC GGGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGG GGACGCGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGAC GGGGGGGACGCGGGGGACGCGGGGGACGCGGGGGGACGCGGGGGGACGCG GGGGGACGCGGGGGACGGGGGGGGACGCGGGGGACGGGGGGGACGCGGGG GACGGGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGG GGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGCGGGGG ACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGG GGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGA CGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGG GGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGAC GGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGG GGGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGA CGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGG GGGGACGCGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGA CGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGG GGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGGACGCGGGGGA CGCGGGGGGAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0173 a0002c0016t0001g0173	1	188	0.0053	960	c.147 others(977): Show c.1474-965_1474-964insGTCCCCCCGCGTCCCCCGCGTCCCCCCC CGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCC CCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGC GTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCCGTCCCCCCCGTCC CCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCGCGTCCCCCC CGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCC CGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCC CCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCC GTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCG TCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCC CGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGT CCCCCGCGTCCCCCCCCGTCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCC CCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCG CGTCCCCCCCGTCCCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCCGCGTC CCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGCGTCCCC CGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGT CCCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCC CCCCGTCCCCCCCGTCCCCCTCATCTCCCACA		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34						chr9	TogoVar
RASA3_chr13_113972783_114137623	114080898	T T	TAGTGCCC others(953): Show TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCT CGGCAGAGGGCTGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCCAAAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCT AGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA GAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCA CGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCATCCACCC AAAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCT CAGCAGAGGGCCGTCCACCCAAAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCT AGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCCAAAACACCAA TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACCT AGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA GAGTGCCCCACGGCAGAGGGCCATCCACCCAAAACACCAAGAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCTCAGCAGAGGGCCGTCCACCC AAAACACCAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	67	0.0299	960	c.56- others(975): Show c.56-7062_56-7061insCTTGGTGTTTTGGGTGGACGGCCCTCTGCT GAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTT TGGGTGGATGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCC GTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT CTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTTTGGGTGGACG GCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT CTTGGTGTTTTGGGTGGACGGCCCTCTGCTGAGGGGCACTCTTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTCTTGGTGTTTTGGGTGGATGGCCCTCTGCC GTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTTTGGGTGGACGGCCCTCTGCCGAGGGGCACT CTTGGTGTTCTAGGTGGACAGCCCTCTGCCGAGGGGCACTATTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RIMBP2_chr12_130391133_130721299	130646443	C C	CCACCTCC others(953): Show CCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACC ACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCAC CTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCT CCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCC CTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCT CACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCT CCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACC ACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCAC CTGCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCT GCCTCTCCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCC CTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCT CACCACCTGCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCT CCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCC ACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCTCCAC CTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCT GCCTCATCACCTCCCTCACCACCTCCCTCACCACCTGCCTCATCACCTCC CTCACCACCTGCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCT CACCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCATCACCTCCCTCA CCACCTGCCTCGCCACCTCCCTCACCACCTCCCTCGCCACCTCCCTCACC ACCTGCCTCAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0009 a0009	a0009c0052 a0009c0052	a0009c0052t0001 a0009c0052t0001	a0009c0052t0001g0123 a0009c0052t0001g0123	1	180	0.0056	960	c.-35 others(981): Show c.-351-17988_-351-17987insATGAGGCAGGTGGTGAGGGAGGTG GCGAGGGAGGTGGTGAGGGAGGTGGCGAGGCAGGTGGTGAGGGAGGTGAT GAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGA GGGAGGTGGTGAGGGAGGTGGTGAGGCAGGTGGTGAGGGAGGTGATGAGG CAGGTGGTGAGGGAGGTGGTGAGGGAGGTGATGAGGCAGGTGGTGAGGGA GGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGG TGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTG GAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGT GAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGA GGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGG GAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGA GGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGG TGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTG GAGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGT GAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAGA GGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGG GAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGA AGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGG TGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTG GAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTACATTA others(953): Show TTACATTATATTATGGATAATATAATATATTACATTATATTATGGATAAT ATAATATATTACATTATATTATGGATAATATAATATATTATATTATATTA TGGATAATATAATATATTATATTATATTATGGATAATATAATATATTATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATCTAATATATTATATTATATTATGGATAATCTAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATATT ATATTATGGATAATCTAATATATTATATTATGGATAATCTAATATATTAT ATTATGGATAATCTAATATATTATATTATGGATAATCTAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	160	0.0063	960	c.389 others(981): Show c.389-154470_389-154469insCATTATATTATGGATAATATAATA TATTACATTATATTATGGATAATATAATATATTACATTATATTATGGATA ATATAATATATTATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATAATATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATCTAATATATTATATTA TATTATGGATAATCTAATATATTATATTATGGATAATCTAATATATTATA TTATGGATAATCTAATATATTATATTATGGATAATCTAATATATTATATT ATGGATAATCTAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(953): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGGTGATGATGGCGGTGGTGGTGATGGTGATGGTGGTGATGGTGG TGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG ATGATGGTGATGGTGGTGATGATGGTGATGGTGAGGATGGTGGTGATGGT GGTCATGATGGTGATGATGGTGATGGTGGTGGTGATGATGGTGATGGTAG TGATGATGGAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGATGGTG GTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGCTGGTGGTGATGCT GGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGATGGTGATGGTGG TGATGATGATGGTGATGGTAGTGATGATGGTGGTGATGGTGATGATGGTG ATGGTAGTGATGATGGTGGTGGTGGTGATGGTGGTCATGATGGTGATGGT GGTGATGATGGTGGTGACGGTGGTGGTGGTGATGGTGACGGTGGTCATGG TGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGGTGATG GTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGAC GGTGGTGATGGTGATGGTGGCAATGGTGATGATGTGATGATGGTGGTGGT GATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGGTGATGGC GATGGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGT GGTGGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGAT GGCGATGATGTGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGAT GATGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	412	0.0024	960	c.-48 others(971): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGGTGATGATGGCGGTGGTGGTGATGGTGA TGGTGGTGATGGTGGTGGTGATGGTGACGATGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGATGATGGTGATGGTGGTGATGATGGTGATGGTGAG GATGGTGGTGATGGTGGTCATGATGGTGATGATGGTGATGGTGGTGGTGA TGATGGTGATGGTAGTGATGATGGAGGTGACGGTGATGGTGATAGTGATG GTGGTGATGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGAT GCTGGTGGTGATGCTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGA TGATGGTGATGGTGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTG ATGGTGATGATGGTGATGGTAGTGATGATGGTGGTGGTGGTGATGGTGGT CATGATGGTGATGGTGGTGATGATGGTGGTGACGGTGGTGGTGGTGATGG TGACGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGATG GTGGTGGTGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGACGGTGGTGATGGTGATGGTGGCAATGGTGATGATGT GATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGT GGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGATAGTGATGGCGA TGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGGT GGTGGTGATAGTGATGGCGATGATGTGATGGTGGTGGTGGTGATGATAGT GATGGCGATGGTGATGATGGTGGTGA		RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding					4824		chr20	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(953): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGG TGGTGGTGATGGTGATGGTGACGATGGTGGTGATGGTGGTGATGATGGTG ATGGTGGTGATGGTGATGCTGATGGTGGTGGTGATGATGGTGATGGTGAG GATGGTGGTGATGGTGGTCATGATGGTGATGATGGTGGTGATGATGATGG TGATGGTGGTGGTGATGGTGATGGTAGTGATGATGGAGGTGACGGTGATG GTGATAGTGATGGTGGTGATGATGGTGGTGGTGGTGGTGATGGTGATGGT GGTGATGGTGATGCTGGTGGTGATGATGGTGATGGTGATGATGATGGTGA TGGTGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTGATGGTGATG GTAGTGATGATGGTGGTGGTGGTGATGGTGGTCATGATGGTGATGGTGGT GATGATGGTGGTGACGGTGGTGGTGGTGATGGTGACGGTGGTCATGGTGG TGGTGATGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGGTGATGGTG ATGATGATGGTGATGGCGGTGGTGGTGATGGTGATGGTGGTGATGACGGT GGTGATGGTGATGGTGGCAATGGTGATGATGTGATGATGGTGGTGGTGAT GATAGTGATGGCGATGATGTGGTGATGGTGGTGGTGGTGGTGATGGCGAT GGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGT GGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGC GATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGAT GGTGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	412	0.0024	960	c.-48 others(971): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGA TGGTGGTGATGATGGTGGTGGTGATGGTGATGGTGACGATGGTGGTGATG GTGGTGATGATGGTGATGGTGGTGATGGTGATGCTGATGGTGGTGGTGAT GATGGTGATGGTGAGGATGGTGGTGATGGTGGTCATGATGGTGATGATGG TGGTGATGATGATGGTGATGGTGGTGGTGATGGTGATGGTAGTGATGATG GAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGATGGTGGTGGTGGT GGTGATGGTGATGGTGGTGATGGTGATGCTGGTGGTGATGATGGTGATGG TGATGATGATGGTGATGGTGGTGATGATGATGGTGATGGTAGTGATGATG GTGGTGATGGTGATGGTAGTGATGATGGTGGTGGTGGTGATGGTGGTCAT GATGGTGATGGTGGTGATGATGGTGGTGACGGTGGTGGTGGTGATGGTGA CGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG GTGGTGGTGATGGTGATGATGATGGTGATGGCGGTGGTGGTGATGGTGAT GGTGGTGATGACGGTGGTGATGGTGATGGTGGCAATGGTGATGATGTGAT GATGGTGGTGGTGATGATAGTGATGGCGATGATGTGGTGATGGTGGTGGT GGTGGTGATGGCGATGGTGATGATGGTGGTGATGATAGTGATGGCGATGA TGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGGTGGT GGTGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGATGATAGT GATGGCGATGGTGATGGTGGTGGTGA		RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding					4824		chr20	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCTATC others(953): Show CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATC TATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCA TCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCA TCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC TATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0356 a0002c0005t0002g0356	1	420	0.0024	960	c.107 others(977): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGG GTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATAGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGAT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15						chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(953): Show CATCCATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCA TCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCTAACCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCTATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATTCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCAGTGTTGGTCCATCTACCATCCATCATCCTCCCCCTCCTCT TTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	420	0.0024	960	c.107 others(977): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATGAATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGATGGGT AGATGGATGGATAGATGGATGGATGGATGGAT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15						chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(953): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCTAACCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCTATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATTCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCAGTGTTGGTCCATCTACCATCCATCATCCTCCCCCTCCTCT TTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02738.hp2 HG03017.hp2 HG02683.hp2 HG02738.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0014 a0002c0003t0001g0349 a0001c0001t0001g0014 a0002c0003t0001g0349	3	420	0.0071	960	c.107 others(977): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGAATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATAGATGGATGGATGGAT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15						chr12	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(953): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCTCAAGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0343 a0001c0001t0003g0343	1	356	0.0028	960	c.646 others(977): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGAT CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCTCAAG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCC		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(953): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0265 a0001c0001t0025g0265	1	314	0.0032	960	c.189 others(977): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(953): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATCCCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACA TCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATC CCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCTCCTCAGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATCCCCCCTCCCT CCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG GGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGG GACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0027 a0001c0001t0118g0027	1	260	0.0039	960	c.54 others(971): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCA GGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCTCCTCAGGGCACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGAC ACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT ACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCC CCCCTCCCTCCAGGGGACACATCCCC		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding					323		chr13	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGAGGCT others(953): Show CGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTC GGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0260 a0001c0003t0003g0260	1	344	0.0029	960	c.218 others(977): Show c.2182+158_2182+159insGAGGCTGTGGGACGGGGGTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTG GGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGG GGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(953): Show CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0275 a0001c0003t0007g0275	1	344	0.0029	960	c.218 others(977): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(953): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGAGAGGGACGGAGAA AGAGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGA AGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGG GAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGA GGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	167	0.0060	960	c.53 others(971): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCCTCTCCTCCCTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTC TCTCTTTCACCCTCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCT CCCCTCCCCTCCCTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTC CCTTCTTTCCTCCCTCCCTCCTCTCC		USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding					2220		chr13	TogoVar
VAV2_chr9_133756894_133997324	133827898	T T	TGCCCACT others(953): Show TGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTG CCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCC CACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCA CTGAGGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGCGCCCACTGA GGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGCGCCCACTGAGG CTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCT GACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGA CCACTGAGCACGGGCATCGCCACCTACCGCTGTGCCCACTGAGGCTGACC ACTGAGCACGGGCATCGCCACCTACCGCTGCGCCCACTGAGGCTGACCAC TGAGCACGGGCATCGCCACCTACCGCTGCGCCCACTGAGGCTGACCACTG AGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCTGACCACTGAG CACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCA CGGGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACG GGCATCGCCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGG CATCGCCAGCTACCGCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCA TCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC GCCACCTACCGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGC CAGCTACCGCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCA GCTACCGCTGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0153 a0002c0001t0001g0153	1	200	0.0050	960	c.449 others(977): Show c.449+6373_449+6374insGCAGCGGTAGCTGGCGATGCCCGTGCTC AGTGGTCAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAG TGGTCAGCCCCAGTGGGCACAGCGGTAGGTGGCGATGCCCGTGCTCAGTG GTCAGCCCCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGT CAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCA GCCTCAGTGGGCGCAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGC CTCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCC CAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCA GTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGT GGGCGCAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGG GCGCAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGC ACAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGC AGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAG CGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCG GTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGT AGGTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGTAG GTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGCT GGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAGCTGG CGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAGCTGGCG ATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGC		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
XG_chrX_2747040_2821500	2773486	G G	GGAAGGAA others(953): Show GGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCG AAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	322	0.0031	960	c.104 others(977): Show c.104-1071_104-1070insAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGG AAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
YBEY_chr21_46281342_46302751	46292556	G G	GCAAGTTA others(953): Show GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCA AGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCC GGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGG ACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGAC TCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCCGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTGAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGG AGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	404	0.0025	960	c.339 others(977): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCA GTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGG GGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCT GACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCCGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTGAGTGGGGACA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(953): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACA CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTCAGCCACACAAG TTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGG ACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	404	0.0025	960	c.340 others(977): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAG TCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCGGTGGAATCAGCCAC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(953): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACG CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTCAGCCACACAAG TTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGG ACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	404	0.0025	960	c.340 others(977): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAG TCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCGGTGGAATCAGCCAC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
ABR_chr17_998519_1184981	1119143	C C	CCTCCCAG others(954): Show CCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAG CCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTT AACCCTGAGCCTGAGTTCCTCCCAGCTTTATCCCTGAGCCTGAGTTCTCC CCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGA GTTCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCCAGCGTTAACCC TGAGCCTGAGTTCTTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGC GTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTC CTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCGCTGAGC CTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAT CGCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCC AGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGA GTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCTTTATCCCT GAGCCTGAGTTCTTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCG TTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCC TCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGC CTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCTTCCCAGCGTTAT CCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCC AGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAG TTCTCCCCAGCGTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0137 a0001c0001t0065g0137	1	337	0.0030	961	c.246 others(978): Show c.246+6039_246+6040insAGAACTCAGGCTCAGGGATAACGCTGGG AGGAACTCAGGCTCAGCGATAACGCTGGGGAGAACTCAGGCTCAGGGATA ACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCT CAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAAGAA CTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGTTAACGCT GGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGG GATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCA GGCTCAGGGATAACGCTGGGAAGAACTCAGGCTCAGGGATAAAGCTGGGA GGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAA CGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCT CAGGGATAACGCTGGGAGGAACTCGGGCTCAGCGATAACGCTGGGGAGAA CTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGCGATAACGCT GGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAG GCTCAGGGATAACGCTGGGAAGAACTCAGGCTCAGGGTTAACGCTGGGAG GGACTCAGGCTCAGGCAATAACGCTGGGAGGAACTCAGGCTCAGGGATAA CGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCA GGGATAAAGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACT CAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288569	C C	CCCCGTGT others(954): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCATGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCTCCGTCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0197 a0001c0010t0001g0197	1	295	0.0034	961	c.49 others(972): Show c.4994_*4995insACGGAGCAGGGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGAC GGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACAC GGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGC AGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACG GGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACAC GGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACG GGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGG GACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAG ACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGG GCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGA CGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAG ACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGC AGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACG GAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGG GGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACATGGGGACGGAGCAGAGACACGGGACGGAGC AGGGACACGGGACGGAGCAGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3821		chr1	TogoVar

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