Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABR_chr17_998519_1184981	1065184	T T	TTGTTATG others(628): Show TTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTG AACTGAGGGCTATGCATGTTGCTCTAGACACTGTTGTTACGTGAACTGAG GGCTATGCATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTC CTCCAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTT GTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTG AACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCATGTTCCTC TAGACACTGTTGTTACGTGAAGTGAGGGCTATACATGTTCCTCTAGACAC TGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTT ATGTGAACTGAGGGCTATGCATGTTCCTCTAGACAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18962.hp1 NA19063.hp2 NA18943.hp2 NA18962.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0204 a0001c0001t0006g0233 a0001c0001t0010g0314 a0001c0001t0006g0204 a0001c0001t0006g0233 a0001c0001t0010g0314	3	337	0.0089	635	c.118 others(654): Show c.1182+1892_1182+1893insGTGTCTAGAGGAACATGCATAGCCCT CAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCA CATAACAGCAGTGTCTAGAGGAACATGTATAGCCCTCACTTCACGTAACA ACAGTGTCTAGAGGAACATGCATAACCCTCAGTTCACATAACAGTGTCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAAC ATGCATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGAACATGCATA GCCCTCAGTTCACGTAACAGCAGTGCTAGAGGAACATGCATAGCCCTCAG TTCACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACAT AACAGCAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACA GTGTCTGGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCATCTAGAGGAAC ATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGCAACATGCATA GCCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTT CACATAACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100276412	G G	GGTGGGAG others(628): Show GGTGGGAGGGAGTGGGTGACTGGTGGGAGGGTGGGAGGGTGTGGGTGCCT GGTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTGGGAGGGAGTGGGTGCCT GGCGGGAAGGTGGGAGGGAGTGGGTGCCTGGCGGGAAGGTGGGAGGGTGT GGGTGCCTGGCGGGAAGGTGGGAGGGAGTGGGTACCTGGCGGGAGGGTGG GAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGG GAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTG CCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGG AGTGGGTGCCTGGTGGGAGGGTGGGAGGGTGTGGGTGCCTGGTGGGAGGG TGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGCAGAGAGTGGGTGCCTGG TGGGAGGGTGGAAGGGAGTGGGTGCCTGGTGGGAGGGTGTGGGTGCCTGG TGGGAGGGAGTGGGTGCCTGGTGGGAGAGTGGGAGGGAGTGGGTGCCTGG TGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGTGTGG GTGCCTGGTGGGAGAGAGTGGGTGCCTGGTGGGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02080.hp1 HG02129.hp2 others(2): Show HG00408.hp1 HG02080.hp1 HG02129.hp2 HG02293.hp1 NA18943.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0005 a0003c0009 others(2): Show a0001c0002 a0001c0005 a0003c0009 a0003c0012 a0005c0026	a0001c0002t0011 a0001c0005t0004 a0003c0009t0003 others(2): Show a0001c0002t0011 a0001c0005t0004 a0003c0009t0003 a0003c0012t0001 a0005c0026t0058	a0001c0002t0011g0160 a0001c0005t0004g0104 a0003c0009t0003g0043 others(2): Show a0001c0002t0011g0160 a0001c0005t0004g0104 a0003c0009t0003g0043 a0003c0012t0001g0131 a0005c0026t0058g0109	5	228	0.0219	635	c.789 others(652): Show c.789+4816_789+4817insTCTCCCACCAGGCACCCACTCTCTCCCA CCAGGCACCCACACCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCA CCCTCCCACCAGGCACCCACTCCCTCCCACTCTCCCACCAGGCACCCACT CCCTCCCACCAGGCACCCACACCCTCCCACCAGGCACCCACTCCCTTCCA CCCTCCCACCAGGCACCCACTCTCTGCCACCCTCCCACCAGGCACCCACT CCCTCCCACCCTCCCACCAGGCACCCACACCCTCCCACCCTCCCACCAGG CACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTC CCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTC CCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCC ACTCCCTCCCACCCTCCCGCCAGGTACCCACTCCCTCCCACCTTCCCGCC AGGCACCCACACCCTCCCACCTTCCCGCCAGGCACCCACTCCCTCCCACC TTCCCGCCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGCACCCACTCC CTCCCACCAGGCACCCACACCCTCCCACCCTCCCACCAGTCACCCACTCC CTCCCAC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100276412	G G	GGTGGGAG others(628): Show GGTGGGAGGGAGTGGGTGACTGGTGGGAGGGTGGGAGGGTGTGGGTGCCT GGTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTGGGAGGGAGTGGGTGCCT GGCGGGAAGGTGGGAGGGAGTGGGTGCCTGGCGGGAAGGTGGGAGGGTGT GGGTGCCTGGCGGGAAGGTGGGAGGGAGTGGGTGCCTGGCGGGAAGGTGG GAGGGTGTGGGTACCTGGCGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGG GAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTG CCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGG AGTGGGTGCCTGGTGGGAGGGTGGGAGGGTGTGGGTGCCTGGTGGGAGGG TGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGCAGAGAGTGGGTGCCTGG TGGGAGGGTGGAAGGGAGTGGGTGCCTGGTGGGAGGGTGTGGGTGCCTGG TGGGAGGGAGTGGGTGCCTGGTGGGAGAGTGGGAGGGAGTGGGTGCCTGG TGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGTGTGG GTGCCTGGTGGGAGAGAGTGGGTGCCTGGTGGGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp2 HG01258.hp2 others(2): Show HG01243.hp2 HG01257.hp2 HG01258.hp2 HG03041.hp2 HG03486.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0001 a0002c0011 a0004c0030 others(1): Show a0002c0001 a0002c0011 a0004c0030 a0005c0020	a0002c0001t0036 a0002c0011t0039 a0004c0030t0001 others(1): Show a0002c0001t0036 a0002c0011t0039 a0004c0030t0001 a0005c0020t0005	a0002c0001t0036g0003 a0002c0011t0039g0013 a0004c0030t0001g0214 others(2): Show a0002c0001t0036g0003 a0002c0011t0039g0013 a0004c0030t0001g0214 a0005c0020t0005g0220 a0005c0020t0005g0221	5	228	0.0219	635	c.789 others(652): Show c.789+4816_789+4817insTCTCCCACCAGGCACCCACTCTCTCCCA CCAGGCACCCACACCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCA CCCTCCCACCAGGCACCCACTCCCTCCCACTCTCCCACCAGGCACCCACT CCCTCCCACCAGGCACCCACACCCTCCCACCAGGCACCCACTCCCTTCCA CCCTCCCACCAGGCACCCACTCTCTGCCACCCTCCCACCAGGCACCCACT CCCTCCCACCCTCCCACCAGGCACCCACACCCTCCCACCCTCCCACCAGG CACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTC CCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTC CCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGTACCC ACACCCTCCCACCTTCCCGCCAGGCACCCACTCCCTCCCACCTTCCCGCC AGGCACCCACACCCTCCCACCTTCCCGCCAGGCACCCACTCCCTCCCACC TTCCCGCCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGCACCCACTCC CTCCCACCAGGCACCCACACCCTCCCACCCTCCCACCAGTCACCCACTCC CTCCCAC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
AHRR_chr5_316714_443285	398183	T T	TCCTGACC others(628): Show TCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATC CACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCC TGACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACG TAGCTCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCCTGAC CATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACATAGC TCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATCC ACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCTCCT GACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGT AGCTCCTGACCGTCCATGTTAGCCCCTGACCGTCCACGTAGCCCCTGACC ATCCACGTAGCTCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGC CCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCC ATGTTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCT GACCGTCCACATAGCTCCTGACCATCCATGTTAGCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0104 a0001c0009t0055g0104	1	268	0.0037	635	c.352 others(654): Show c.352-15130_352-15129insTGTTAGCCCCTGACCATCCACGTAGC CCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATC CACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCTCCT GACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACG TAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACATAGCTCCTGACC ATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCT CCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCTCCTGACCATCC ACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCTCCTG ACCGTCCATGTTAGCCCCTGACCGTCCACGTAGCCCCTGACCATCCACGT AGCTCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACC ATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGC CCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACCGTCC ACATAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCTCCT GACCATCCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(628): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATTCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATGCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATATTATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	1	416	0.0024	635	c.10 others(648): Show c.10504_*10505insGAGCATATATAATATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATAT ATTATATATGAGCATATATAATATATTATATATGAGCATATATAATATAT TATATATGAGCATATATAATATATTATATATGAGAATATATAATATATTA TATGAGAATATATAATATATTATATGAGAATATATATTATATATGAGAAT ATATAATATATATGAGAATATATATAATATGTCATATATGAGAATATATA TTATATATGAGAATATATATTATATAAATGAGAAAATATATATTATATAT TAGAATATATACATTATATATGAGTATATATATAATATATGAGAATATAT ATAATATATGAGTATATATTATATATATGAGAATATATATTATATATGAG AATATATATATTATATATATGAGAATATATAATATATATATATGAGAATA TATATTATATATATGAGTATATATAATATATATGAGAATATATATTATAT GTATATAATATATATAATATATAATATATAATATATACATATATACATAT AATATATAAACATATAATATATAATATATACATGTAATATATATTATATA TAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(628): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATTATATATGCTCATATAATATATTA TATATGCTCATATATAATATATTATGTATGCTCATATATAATATATTATG TATGCTCATATATAATATATTATGTATGCTCATATATAATATATTATGTA TGAGCATATATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0000 a0001c0001t0052g0000	1	416	0.0024	635	c.10 others(648): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATGAGAATATATA ATATATTATATGAGAATATATATTATATATGAGAATATATAATATATATG AGAATATATATAATATGTCATATATGAGAATATATATTATATATGAGAAT ATATATTATATAAATGAGAAAATATATATTATATATTAGAATATATACAT TATATATGAGTATATATATAATATATGAGAATATATATAATATATGAGTA TATATTATATATATGAGAATATATATTATATATGAGAATATATATATTAT ATATATGAGAATATATAATATATATATATGAGAATATATATTATATATAT GAGTATATATAATATATATGAGAATATATATTATATGTATATAATATATA TAATATATAATATATAATATATAATATATAATATATACATATATACATAT AATATATAAACATATAATATATAATATATACATGTAATATATATTATATA TAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ARHGAP39_chr8_144524179_144690846	144687476	C C	CCCCGTGA others(628): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGTGAGCAC TTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGTG AGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCC GTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCC CACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCCG TGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGC GGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCC ACCCCGTGACCACACATTTACAGTGAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0230 a0001c0018t0001g0230	1	246	0.0041	635	c.-18 others(646): Show c.-1873_-1872insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGT GTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGG TGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCG TGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGG AAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCA GTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGG G	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1631		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCGTGA others(628): Show CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCA CTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCC CTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACT AGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACACTTC CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCA CACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGA GCACTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCG TGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGC GGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA CCCCTGTGACCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	246	0.0041	635	c.-20 others(646): Show c.-2049_-2048insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGT GCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGT GGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACTG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC AGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGT GGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGA AGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCA GTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG G	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
CACNA1I_chr22_39565753_39694735	39596214	T T	TGGGCAGG others(628): Show TGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGG CAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGT GGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGG GAGCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGGCA GGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATG GGGGAGCAGGGTGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGA GCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAG GGCGGAGGGAGATGGGGGAGCAGGGTGGAGAGAGATGGGGGAGCAGGGTG GAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGCAGGGCGGAGGGAGAT GGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGG GGGCAGGGCGGAGAGAGATGGAGCAGGGTGGAGGGAGATGGGGGGCAGGG CGGAGGGAGATGGGCAGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGGGA GATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01243.hp2 HG01884.hp1	a0001 a0001	a0001c0009 a0001c0026 a0001c0009 a0001c0026	a0001c0009t0007 a0001c0026t0051 a0001c0009t0007 a0001c0026t0051	a0001c0009t0007g0135 a0001c0026t0051g0169 a0001c0009t0007g0135 a0001c0026t0051g0169	2	236	0.0085	635	c.237 others(652): Show c.237-1935_237-1934insGCAGGGCGGAGAGAGATGGGGGGGCAGG GCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGA GGGAGATGGGGGGCAGGGTGGAGAGAGATGGGGGGGCAGGGCGGAGAGAG ATGGCGGAGAGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGAGCAGGA CGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGA GAGATGGCGGAGAGAGATGGGGGAGCAGGGTGGAGGGAGATGGGGGGCAG GGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCG GAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGGTGGAGA GAGATGGGGGAGCAGGGTGGAGGGAGATGGGGGGCAGGGCGGAGGGAGAT GGGCAGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGC AGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGAGCAGGGTGG AGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGCAGGGCGGAGGGAGATG GGGGAGCAGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGG GGCAGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CALN1_chr7_71774491_72417338	72114267	G G	GGGAGTAA others(628): Show GGGAGTAAAAATAAAAGTGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGAAGGGAAGG GAAGGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGAAGGGAAGAAGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGA AGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGAGGAAGGG AAGGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGAAGGGAA GGGAAGGAAGGGAAGGAAGGGAAGGAGGAAGGAAGGGAAGGGAAGGGAAG GGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	142	0.0070	635	c.245 others(652): Show c.245-7974_245-7973insTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCC TTCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCTCCTTCCCTTCCTTCCCT TCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCC CTTCCCTTCCCTTCCTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTC CCTTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCTTCCCT TCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTCC TTCCCTTCCCTTCCCTTCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCTTCCCTTCC CTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCACTTTTATTT TTACTCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72114309	G G	GAAGGGAA others(628): Show GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	142	0.0070	635	c.245 others(652): Show c.245-8016_245-8015insGCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(628): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATATT ATATATAATTATATATATATATTATATATAATTTTATATATATAATTATA TATATAATTTTATATATATAATTTTATATATATAATTATATATATAATTT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATATAATTATATATATAATTTTATA TATATATAATTATATATATAATTTTATATATATATAATTATATATATAAT TTTATATATATATAATTATATATATAATTATATATATAATTTTATATATA TAATTATATATATAATTTTATATATATATAATTATATATATAATTTTATA TATATAATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0254 a0001c0014t0001g0254	1	330	0.0030	635	c.907 others(650): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAATTATATATATAAAATTATATATATAAAAT TATATATATAATTATATATATAAAATTATATATAATATATATATATAATT ATATATAATATATATATAATTATATATATAATTTTATATATATATATAAT TATATATATATATAAATATATATAATTATATATATAAAATTATATATATA ATTATATATAATATATATAATTATATATATAATTTTATATATATATATAA TTATATATATATAAATATATATAATTATATATATATAAAATTATATATAT AATTATATATATATAAAATTATATATATAATTATATATATATAATTATAT ATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(628): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCGCTCCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0122 a0001c0001t0026g0122	1	256	0.0039	635	c.-45 others(656): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCGCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCC CTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(628): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCC TCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTC CTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTT CCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCC TCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0193 a0001c0002t0054g0193	1	270	0.0037	635	c.162 others(656): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTC CCCCTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCC CCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCC TCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTC CTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCC CTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(628): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT ATAATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATAT AATTATATATATATTTATATATAATTTTATATATAAATATATATAATTAT ATATATTTATGTATAAATATAACTTTATATATAAATATATATAATTTTAT ATATATAATTTTATATATAAATATATATAATTATATATATTATATATAAA TATATATAATTTTATATATAATATATATAATTTTATATATTTATATATAA ATATATATATAATTTATATATAAATATATAAAATTATATATAAATATATA TAATTTATATATAAATATATATAATTTATATATAAATATGTATAATTTTA TATATATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATAT ATTTATATAAATATATATTTATATATAAAAATTTATATACAAATATATAT AAATATATACAAATATATATATAAATTTATATAAAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0048 a0001c0004t0002g0048	1	116	0.0086	635	c.56- others(652): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATATAATTTTATATATTTATATATAAATATA ATTTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTA TATATAAATATATATAATTATATATATTTATGTATAAATATAACTTTATA TATAAATATATATAATTTTATATATATAATTTTATATATAAATATATATA ATTATATATATTATATATAAATATATATAATTTTATATATAATATATATA ATTTTATATATTTATATATAAATATATATATAATTTATATATAAATATAT AAAATTATATATAAATATATATAATTTATATATAAATATATATAATTTAT ATATAAATATGTATAATTTTATATATATAAATAGATATAATTTTATATAT TTATTTATATAAATTTTATATATTTATATAAATATATATTTATATATAAA AATTTATATACAAATATATATAAATATATACAAATATATATATAAATTTA TATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(628): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATATATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATAAAAATATATATAAATATATAAAAAAATATAAATA TATATAAATATATAAATATATGTAAATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATATAAATATATATATATAAATA TATATAAATATATAACTATATAAATAAATATATATAAATATATAAATATA TAAAAATATATATAAATATATATGTAAATATATAAATATATATAAATATA TATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATA AATATATATATAAATATATATAAGTATATAAATATATATATAAATATATA TAAGTATATAAATATATATAAATATATATAAGTATATAAATATATATATA AATATATATAAGTATATATAAAATATATATAAATATATATAAGTATATAT AAATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	264	0.0038	635	c.181 others(654): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTTATATATACT TATATATATTTATATATATATTTATATACTTATATATATTTATATATATT TATATACTTATATATATTTATATATATATTTATATACTTATATATATTTA TATATATATTTATATACTTATATATATTTATATATATTTATATACTTATA TATATTTATATATATTTATATATATTTATATATTTACATATATATTTATA TATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATA TATTTATATATATTTATATATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATATATTTATATATATTTACATATATTTATA TATTTATATATATTTATATTTTTTTATATATTTATATATATTTTTATATA TATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATA TATATTTATATATATATAAATATATTTATATTTATATATATTTACATATA TATTTAGAATTACATATTTATATATATATTTATATTTATATATATTTATA TATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A2_chr13_110302284_110518209	110481318	C C	CTCCGTTG others(628): Show CTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCC TCCGTTGCTGGAGACACACAGTTCTGTCCTTCCATTGCTGGAGACACACT GTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTG GAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCC TCCGTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACT GTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCC TCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACT GCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGA GACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTC TGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0048 a0001c0004t0003g0048	1	372	0.0027	635	c.275 others(652): Show c.2758+931_2758+932insGTTGCTGGAGACACACTGCTCTGTCCCT CCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGC TCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCTTC CGTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGT TCTGTCCTTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTC CGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCT CTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGAC ACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTG TCCTTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(628): Show AAGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCC CGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTG TCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0087	1	326	0.0031	635	c.737 others(654): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCC CAGTAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGC TGGCCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCT GGCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCC CCACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(628): Show GCTATAACCACCACCACCATTATAACCATCACCACCACCACTATAACCAC CATCATCATCACCACCACTACCACTACTATAACCATTACCACCATCACTG CTATAACCACCACCACCATTATAACCATCACCACCACCACTATAACCACC ATCATCATCACCACCACTACCACTACTACAACCATTACCACCATCACTGC TATAACCACCACCACCATTATAACCATCACCACCACCACTATAACCACCA TCATCATCACCACCACTACCACTACTATAACCATTACCACCATTACTACT ATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATAAC CACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTATAA CCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAA CCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCACTA CTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCACC ACCACCATCACTATAATCATCACCATCATCACCACTATAACCACCACTAC CACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0138 a0001c0002t0009g0138	1	230	0.0044	635	c.724 others(654): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTGGTGG TGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTG GTGGTTATAGCAGTGATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGT GATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGG TGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237115	G G	GGGAGAGG others(628): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	338	0.0030	635	c.29 others(646): Show c.2931_*2932insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGA C	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2835		chr11	TogoVar
DPEP1_chr16_89608642_89643433	89619070	T T	TGCTCCCC others(628): Show TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCTCC CTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCT CCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	250	0.0040	635	c.-10 others(654): Show c.-107+5368_-107+5369insCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGC TCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATT others(628): Show ATATAATTATATATTATATAATATATAATTATATATAATATATAATATAT TATATATTATATATATTATATAAAATATAATATATTATATATAATTATAT ATTATATATTATATATAATATATAATTATATGTTATATATTATATATATT ATATATTATATATATATTATATATATAATATATATTATATATTAAATTAT ATATAATATATATTATATATATAATTTATATATATAAAATATATTATATA TTATATAAATATATATATTTTATATATATAAAATATATATTTTATAATAT ATAATATAGAAATGTATATTATATAATATATAATTATATATAATTATATA TTATATAATATATATTTCTATATTATATATTTATAATGTATAATATATAA ATATATTATAAATATATATTATATACTATATAATGCATTATAAATATATT ATATTTATATATTATAAATATATTACATATTTATATATTATATATATAAT ATATATATTATATATTATAAATATATTTTATAAAATATAATATATATATT ATATATTATATATTATAAATATATTTTATAAAATATAATATATATATTAT ATATTATATTTTATAAAATATAATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	220	0.0046	635	c.551 others(654): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATATATAATATATATATTATATTTTATAAAATATATTTATAATA TATAATATATAATATATATATTATATTTTATAAAATATATTTATAATATA TAATATATATATTATATATATAATATATAAATATGTAATATATTTATAAT ATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATATT TATAATATATTTATATATTATACATTATAAATATATAATATAGAAATATA TATTATATAATATATAATTATATATAATTATATATTATATAATATACATT TCTATATTATATATTATAAAATATATATTTTATATATATAAAATATATAT ATTTATATAATATATAATATATTTTATATATATAAATTATATATATAATA TATATTATATATAATTTAATATATAATATATATTATATATATAATATATA TATAATATATAATATATATAATATATAACATATAATTATATATTATATAT AATATATAATATATAATTATATATAATATATTATATTTTATATAATATAT ATAATATATAATATATTATATATTATATATAATTATATATTATATAATAT ATAATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(628): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGA GGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGG TGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAA AAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA19074.hp1 NA19088.hp1 NA18971.hp1 NA19074.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0031g0098 a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0031g0098	3	294	0.0102	635	c.-38 others(646): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGG AGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAG GGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAA T	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EIF3B_chr7_2349827_2385745	2378377	C C	CTCCTGGG others(628): Show CTCCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGG AGCAGGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAAGCCGTGTTGTGT GAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGG AAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCG CGAGTGCTGCTGGGAATCCGTGTTGTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAAGCCGTG TTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCT GCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAG CAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGT CGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCTGTGTTGTGTGAATG ACCCTCGGTGTCATGGAGGAAGGAACAGGCGAGCGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	384	0.0026	635	c.215 others(652): Show c.2155-304_2155-303insAGCTGTGTTGTGTGAATGACCCTGGGTG TCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGA AGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGC GAGTGCTGCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAG GAAGGAGCAGGCGCGAGTGCTGCTGGGAATCCGTGTTGTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTT CTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGC AGGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTC AAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAA TGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCTG TGTTGTGTGAATGACCCTCGGTGTCATGGAGGAAGGAACAGGCGAGCGTT CCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378450	A A	ATCCGTGT others(628): Show ATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGT TCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAAT CCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGA GCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGG AGAAGGCGCGAGCACTGCTGGGATGCTGTGTTGTGTGAATGACCCTCGGT GTCATGGAGGAAGGAACAGGCGAGCGCTCCTGGGAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	384	0.0026	635	c.215 others(652): Show c.2155-239_2155-238insTCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAAT GACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCTGT GTTGTGTGAATGACCCTCGGTGTCATGGAGGAAGGAACAGGCGAGCGCTC CTGGGAT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(628): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGA GGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGG TGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAA AAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18973.hp2 NA19088.hp1 NA18971.hp2 NA18973.hp2 NA19088.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0011 a0001c0007t0001g0011	3	254	0.0118	635	c.35 others(646): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGG AGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAG GGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAA T	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FKBP2_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(628): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	635	c.-40 others(646): Show c.-4022_-4021insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGA C	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3979		chr11	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(628): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCT CCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0004 a0001c0079t0004	a0001c0079t0004g0028 a0001c0079t0004g0028	1	408	0.0025	635	c.633 others(652): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTC TCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNG2_chr18_79792938_79905100	79886450	C C	CGGGGACA others(628): Show CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACA TAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGAT GGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGA TGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGAC ACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACGGGGACAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	312	0.0032	635	c.625 others(654): Show c.625-12590_625-12589insGGGGACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGG ACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGG ACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGA CATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGG ACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGA CGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGA CACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGAC ATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGA CGGGGACAT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3			chr18	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATAT others(628): Show ATATATATTATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATATTTATATATATATATTTT TATATATATTTATATATATTTTTATATATAGTTATATATATTTATATATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA GTTATATATATAGTTATATATAGTTATATATATATTTATATATATATATT TTTATATATATATTTATATATATATATTTTTATATATATATTTATATATA TTTATATATATTTATATATATAAATATATATATATTTATATATATATTTA TATATATAAATATATATATATTTATATATATATTTATATATATTTATATA TATTTATATATTTATATATGTATTTATATATATTTATATATGTATTTATA TATATTTATATATAATTATATGTATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02615.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0210 a0001c0001t0001g0211	2	260	0.0077	635	c.125 others(652): Show c.125+9673_125+9674insATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATATTTATATATATTTATATATATATA TTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAGT TATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATAGT TATGTATAGTTATATATAGTTATATATATAGTTATATATAGTTATATATA TATTTATATATATATATTTTTATATATATATTTATATATATATATTTTTA TATATATATTTATATATATTTATATATATTTATATATATAAATATATATA TATTTATATATATATTTATATATATAAATATATATATATTTATATATATA TTTATATATATTTATATATATTTATATATTTATATATGTATTTATATATA TTTATATATGTATTTATATATATTTATATATAATTATATGTATTTATATA TATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC114841035_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(628): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	635	c.-41 others(646): Show c.-4165_-4164insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGA C	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3979		chr11	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATGATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TCATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18988.hp1 NA19000.hp1 others(1): Show NA18983.hp2 NA18988.hp1 NA19000.hp1 NA19076.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	4	288	0.0139	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT GATATAATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATTATATCATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATGATATACT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TCATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT GATATAATATATAATATAATTATATATTATATCATATATAATATAATTAT ATAGTATATCATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATGATA TAATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT TATATCATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATTATATAATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATTATATAATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTGTATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATATATAATTATATTATATAT TATATAATATATAATTATATTATATATTATATAATATATAATTATATTAT ATATTATATAATATATAATTATATTATATATTATATAATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	288	0.0035	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATATATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATAATATATAATATAATTAT ATATTATATAATATATTTAATATAATTATATACAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATATTATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TCATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT GATATAATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATTATATAATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATAATATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(628): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCT CCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCCTC CCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCC TTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTC CCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCC CCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCC CTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCC CTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCC CCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTT GCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCC CCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTC CCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	1	278	0.0036	635	c.115 others(652): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCT CCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCC CTCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCT CCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGC CTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTT CCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCC CCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCG CCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCT CCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTG CTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCC TCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCT CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCC CCTCCCC	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(628): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCT CCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCCTC CCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCC TTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTC CCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCC CCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCC CTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCC CTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCC CCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTT GCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCC CCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTC CCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	278	0.0036	635	c.115 others(652): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCT CCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCC CTCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCT CCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGC CTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTT CCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCC CCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCG CCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCT CCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTG CTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCC TCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCT CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCC CCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(628): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCG CTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0166 a0166	a0166c0109 a0166c0109	a0166c0109t0001 a0166c0109t0001	a0166c0109t0001g0174 a0166c0109t0001g0174	1	249	0.0040	635	c.148 others(654): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(628): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0010 a0010	a0010c0005 a0010c0005	a0010c0005t0001 a0010c0005t0001	a0010c0005t0001g0063 a0010c0005t0001g0063	1	249	0.0040	635	c.148 others(654): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(628): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0140 a0140	a0140c0089 a0140c0089	a0140c0089t0001 a0140c0089t0001	a0140c0089t0001g0071 a0140c0089t0001g0071	1	249	0.0040	635	c.148 others(654): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTG CTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(628): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18974.hp2 HG01123.hp1 NA18974.hp2	a0168 a0186 a0168 a0186	a0168c0055 a0186c0128 a0168c0055 a0186c0128	a0168c0055t0001 a0186c0128t0001 a0168c0055t0001 a0186c0128t0001	a0168c0055t0001g0086 a0186c0128t0001g0170 a0168c0055t0001g0086 a0186c0128t0001g0170	2	249	0.0080	635	c.148 others(654): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(628): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	350	0.0029	635	c.-28 others(646): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT C	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(628): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGG TGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCG GTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAG GTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAG GTCATACCGGGTGGGGTGGCAGTAATGAGAGGTCATACCAGGTGGGGTGG GGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCG GGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAG AGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTG GGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	208	0.0048	635	c.346 others(654): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCT GGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCG CCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACC TCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACTGCCACCCCAC CCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACTAC CCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGAC CTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCA CCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTA CCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATT ACCGCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTAT GACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(628): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG TCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGG GGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0042 a0001c0001t0013g0042	1	155	0.0065	635	c.155 others(654): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(628): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTATAGAGTATATATACTATATATACTCTATA GTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	439	0.0023	635	c.-16 others(646): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAC TATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG T	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(628): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATACTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	439	0.0023	635	c.-16 others(646): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG T	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(628): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCAGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0022 a0001c0013t0022	a0001c0013t0022g0081 a0001c0013t0022g0081	1	166	0.0060	635	c.633 others(652): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(628): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAGAAAGAAAGA AAGAAAGAAAGAAAGAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAG AAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAGAAAAGAAAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAGAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAGAAGAAGGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAA GGAAAGAAAGCAAAAAAAGAAAGAAAGAAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	342	0.0029	635	c.20- others(650): Show c.20-3989_20-3988insTTCTTCTTTCTTTCTTTCTTTTTTTGCTTT CTTTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTTCTTCTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTC TTCTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTTCTTTT CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar

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Search Results (Total: 10000 hits)