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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
PLEKHG4B_chr5_87168_194966	101556	A A	AAAAAGCC others(628): Show AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATC CATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAA ATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTT GTGAGGTAAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACT GTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGAAAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0109 a0001c0007t0109	a0001c0007t0109g0147 a0001c0007t0109g0147	1	210	0.0048	635	c.45+ others(650): Show c.45+9285_45+9286insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTA GGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGCCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG TCTGTAGGGAAAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGG AAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(628): Show AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTC CTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0038	1	340	0.0029	635	c.227 others(652): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGC TTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTC TCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(628): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATTTATTCAACCTC CCACCCACCAACCCATCCACCTTCCCCTCTATCTATTCAACTATTCAACC ACCCACCCACCCACCCACCATCCATCCACCTTCCGCTCCACCTATTCACC CATCCACCCACCCACCCATCTACCTTTCTCTCCACCTATTCACCCATCCA CCCACCCACCCATCTACCTTCCTCTCCATCTATTCAACTATCCACCCACC CACCCACCTATCCACTTTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0355 a0001c0002t0008g0355	1	370	0.0027	635	c.438 others(652): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGG GTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(628): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	276	0.0036	635	c.132 others(652): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(628): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATATATGTATATATAATATATACATATATACATGTATATA TTATACATGTATATATTAATATATAATATATAGTATATATATACATGTAT ATATTATATATAAAGTATATATTATATATACGTGTATACAATATATATAC GTGTATATATATTATATACACGTATATATAATATATTGTATACAGGTATA TATACATGTATATAATATATATGTATATATAATATATTGTATACATGTAT ATATATACATGATATATACACATATATATCGTGTATATATACACATATAT GTATATATATACATGATATATACATACATATATATCATGTGTATATATAT ACATAATATACACGTATATATACATACATATATACATGTATATATACACA TATATACATACATATATATACATGTATATATACACACATATATATGTGTA TGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA TATATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0162 a0001c0003t0001g0162	1	170	0.0059	635	c.59- others(652): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATACACACACACACACACACACACACA CATATACATACACATATATATGTGTGTATATATACATGTATATATATGTA TGTATATATGTGTATATATACATGTATATATGTATGTATATATACGTGTA TATTATGTATATATATACACATGATATATATGTATGTATATATCATGTAT ATATATACATATATGTGTATATATACACGATATATATGTGTATATATCAT GTATATATATACATGTATACAATATATTATATATACATATATATTATATA CATGTATATATACCTGTATACAATATATTATATATACGTGTATATAATAT ATATACACGTATATATATTGTATACACGTATATATAATATATACTTTATA TATAATATATACATGTATATATATACTATATATTATATATTAATATATAC ATGTATAATATATACATGTATATATGTATATATTATATATACATATATGT ATATATTATATATACATATATATGTATATATAATATATACATATATGTGC ATATAATATACATGTCTATATGTATATATATTATACATACATGTCTATAT GTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(628): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGCAGATCACCTGAGGTCGGGAGCT GGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATATT AAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGA GCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCC GTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTTT TGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAATC TCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCTC AGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTAA TTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGT CTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0301 a0003c0003t0001g0301	1	454	0.0022	635	c.684 others(650): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCCGACCTCAGGTGATCTGCCGCCTCGGCCTCCCAAAGTG CCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAAT ATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTGG GAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(628): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTAA TCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGCT GGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATATT AAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGA GCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCC GTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTTT TGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAATC TCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCTC AGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTAA TTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGT CTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	454	0.0022	635	c.684 others(650): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTAAT ATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTGG GAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(628): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTC GGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGG GGGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18953.hp1 HG00673.hp1 NA18953.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0120 a0001c0003t0002g0168 a0001c0003t0002g0120 a0001c0003t0002g0168	2	370	0.0054	635	c.284 others(654): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(628): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0017 a0001c0001t0058g0017	1	150	0.0067	635	c.77- others(652): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCT ATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCC CCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCC CTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356680	T T	TCCCCCTC others(628): Show TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCCCCACCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC ACCACCCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCTTTCCCTTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0001 a0002c0002t0024g0001	1	150	0.0067	635	c.77- others(652): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCACCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCACCACCCCCTTCCCCCTCCCCCCTCCCTCCCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTTTCCCTTCCCCTCCCC TCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(628): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0056 a0001c0001t0020g0056	1	158	0.0063	635	c.22+ others(652): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCT ATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCC CCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCC CTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356680	T T	TCCCCCTC others(628): Show TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCCCCACCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC ACCACCCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCTTTCCCTTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0103 a0002c0002t0012g0103	1	158	0.0063	635	c.22+ others(652): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCACCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCACCACCCCCTTCCCCCTCCCCCCTCCCTCCCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTTTCCCTTCCCCTCCCC TCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(628): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTATATATACATATAAAATAT ATATACATATGTTTTATATGTATATATATACATATAAAATATATATACAT ATAAAATATATACATATAAAATATATATGTTTTATATGTATATATACATA TAAAATATATATACATATGTTTTATATGTATATATATACATATAAAACAT ATATACATATGTTTTATATGTGTATATATACATAGAAAATATATATAATA TATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	300	0.0033	635	c.626 others(652): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAATATATAT ACATATGTTTTATATGTATATATATACATATAAAATATATATACATATAA AATATATACATATAAAATATATATGTTTTATATGTATATATACATATAAA ATATATATACATATGTTTTATATGTATATATATACATATAAAACATATAT ACATATGTTTTATATGTGTATATATACATAGAAAATATATATAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATG TTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(628): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCC GCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTG GGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG AGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACC ACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGC CCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGG CGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAG CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0285 a0001c0001t0006g0285	1	410	0.0024	635	c.-14 others(646): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGA GCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCA CCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCC CTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGC GGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGC ACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACC CGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG G	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC45A4_chr8_141202174_141313288	141203363	G G	GAGAGAGA others(628): Show GAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGAGAGAGGAGAGA GAGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACGTGGAGAGAGAG AGAGAGAGAGGGAGAGAGAGAGAGAGGAGAGAGGGAGAGAGGAGAGAGGG AGAGAGAGACCGTGGAGAGAGGAGAGGGAGACCGTGGAGAGAGAGAGAGA GAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGAGAGAGGGAGAG AGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAG AGAGAGAGGAGAGAGGGAGAGAGGGAGAGAGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGAGAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGG GAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGAGAGGGAGACGTGGA GAGAGAGAGAGGAGATGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAG AGAGAGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGA GGGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGGAGA GAGAGAGAGAGAGAAGAGAGAGAGAGAGACCGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0062 a0002c0001t0001g0062	1	188	0.0053	635	c.82 others(646): Show c.8208_*8209insTCCACGGTCTCTCTCTCTCTCTTCTCTCTCTCTC TCTCTCCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTC CCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCTCT CTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTCCTCTCTCTC TCTCCACGTCTCCCTCTCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTC TCCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTCTCTCTCTCTCTCCCT CTCTCCCTCTCTCCCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCCTCTCT CTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTCTCTCC CTCTCTCCCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTC TCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCTCTCTCCACGGTCTCTCT CTCCCTCTCTCCTCTCTCCCTCTCTCCTCTCTCTCTCTCTCCCTCTCTCT CTCTCTCTCTCCACGTCTCCCTCTCCCTCTCTCCACGGTCTCTCTCTCCC TCTCTCTCCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTC T	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3810		chr8	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(628): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGAGGAGAGGGGAGGGG GAAGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGG GGGAGGGGGAGGGGGAGGGGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGAG GGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03130.hp1 HG02809.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	635	c.12 others(646): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCC CCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCC CCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCC TCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCC CCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTC CTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCT CCCTCCTCCCCTCCCCCTCCCCCTCCCTCCCCCCCCTCCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCT TCCCCCTCCCCTCTCCTCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC C	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(628): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGCTGGTCTCAGTGGCTCATGCCTGTAATACTTGCATATCTTGGGATGGC AAGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAAC ACACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCA TGCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAG CCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAG CCAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCA ACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCAT TTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTT ATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATT TTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG02559.hp2 others(2): Show HG00733.hp2 HG01243.hp1 HG02559.hp2 HG02717.hp1 NA18522.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0007 a0002c0008	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 others(1): Show a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002	a0002c0007t0001g0120 a0002c0007t0001g0124 a0002c0007t0004g0134 others(2): Show a0002c0007t0001g0120 a0002c0007t0001g0124 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0002g0125	5	150	0.0333	635	c.531 others(654): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGTATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGT ATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCC TGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(628): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGCTGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGC AAGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAAC ACACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCA TGCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAG CCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAG CCAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCA ACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCAT TTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTT ATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATT TTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	150	0.0067	635	c.531 others(654): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGT ATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCC TGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(628): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GCTGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCA AGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACA CACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCAT GCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGC CCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGC CAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAGGCCA ACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCAT TTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTT ATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATT TTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	150	0.0067	635	c.531 others(654): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGT GGTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTT GACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGG GACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGG AATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGAT GCTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCAC TGAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGT ATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCC TGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827174	A A	AACATATA others(628): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTAT AGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	302	0.0033	635	c.12+ others(650): Show c.12+3990_12+3991insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(628): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGG CATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACA GGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	635	c.245 others(652): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGT GCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTT TTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT GTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0111 a0001c0001t0021g0111	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 NA19054.hp2 HG01978.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0075 a0001c0001t0006g0008 a0001c0001t0005g0075 a0001c0001t0006g0008	2	422	0.0047	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCC CAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCA CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTG CCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC ACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTG CCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGC CTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	635	c.64 others(646): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCC AGGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(628): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGGTGGT GATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGG TGATGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATGGTAATG GTGGTGGTGATGGTGGTGGTGATAATGTGGCGATGGTGATGGTAATGATG GTGGTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGATGGT GGTGGCGGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGG TGATGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTGATG ACGGTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGCGAT GGTGATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGATGA TGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATGATA ATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGTC GATGGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGGCGA TGGTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	258	0.0039	635	c.113 others(654): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATGATGGTG GTGGTGATGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTGATAATGTG GCGATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATGGTGAT CATGGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAATGATGG TGGTGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATGGTA ATGATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGATGGT GGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGGTGA CGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTGGTG ATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGTCGATGGTGATCGTGGTGGTAATGGTGATGA TGATGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTGATG GTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(628): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGGTGGT GATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGG TGATGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATGGTAATG GTGGTGGTGATGGTGGTGGTGATAATGTGGCGATGGTGATGGTAATGATG GTGGTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGATGGT GGTGGCGGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGG TGATGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTGATG ACGGTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGCGAT GGTGATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGATGA TGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATGATA ATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGTT GATGGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGGCGA TGGTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG03098.hp1 others(1): Show HG02257.hp2 HG02258.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0015 a0001c0001t0002g0156 a0001c0001t0002g0166 others(1): Show a0001c0001t0002g0015 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0009g0043	4	258	0.0155	635	c.113 others(654): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATGATGGTG GTGGTGATGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTGATAATGTG GCGATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATGGTGAT CATGGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAATGATGG TGGTGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATGGTA ATGATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGATGGT GGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGGTGA CGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTGGTG ATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGTTGATGGTGATCGTGGTGGTAATGGTGATGA TGATGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTGATG GTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(628): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGGTGGT GATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGG TGATGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATGGTAATG GTGGTGGTGATGGTGGTGGTGATAATGTGGCGATGGTGATGGTAATGATG GTGGTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGATGGT GGTGGCGGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGG TGATGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTGATG ACGGTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGCGAT GGTGATGGTAATAATGGTGGTGATGGTGATGGTGATGATGGTGATGATGA TGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATGATA ATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGTT GATGGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGGCGA TGGTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01069.hp2 others(3): Show HG00140.hp2 HG00323.hp1 HG01069.hp2 HG01071.hp2 HG01358.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0001t0001g0177 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0001t0001g0177 a0001c0001t0002g0098 a0001c0001t0003g0088 a0001c0001t0003g0201	6	258	0.0233	635	c.113 others(654): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATGATGGTG GTGGTGATGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTGATAATGTG GCGATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATGGTGAT CATGGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAATGATGG TGGTGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATGGTA ATGATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGATGGT GGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGGTGA TGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTGGTG ATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGTTGATGGTGATCGTGGTGGTAATGGTGATGA TGATGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTGATG GTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(628): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCC CCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATCCTCC CTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCT CCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCC TCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTC ACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCA CCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG01496.hp1 others(4): Show HG00438.hp1 HG00639.hp1 HG01496.hp1 HG01515.hp1 HG02735.hp1 HG03239.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017	a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0003g0069 a0001c0001t0004g0092 a0001c0001t0012g0062 a0001c0001t0017g0068	7	112	0.0625	635	c.142 others(656): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTC CTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCT CCCTCCGCCCCACCCATCCCTCCTCCCCTCACCCATCCCTCCATCCTCCC TCCACCCCACCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCA CCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTC CCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCA CCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTC CCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCC ACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACC CATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCA TCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628218	A A	ACGGGGGT others(628): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGG AAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA ACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0310 a0002c0001t0022g0310	1	352	0.0028	635	c.299 others(650): Show c.299-793_299-792insAGTTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGT CCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TLL2_chr10_96359608_96518926	96415716	G G	GCTCTCTC others(628): Show GCTCTCTCTCTGTCTCTCTGTCTCTCTCTTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTC TCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTC TCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTC TGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	256	0.0039	635	c.924 others(652): Show c.924-2401_924-2400insACAGAGAGAGAGACAGAGAGAGACAGAG AGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAG AGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAA AGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAG AGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACAGAGAGAGACAGAGAG AGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAG AGAGAGACAGAGAGAGAAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAG ACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAG ACAGAGAGAGAGACAGAGAGAGAGAGAGAAGAGAGAGACAGAGAGACAGA GAGAGAG	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(628): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTCATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATATTATATA TTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTTATA TTTATATATTATTATATTATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATTTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0081 a0001c0004t0001g0081	1	128	0.0078	635	c.143 others(656): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTCATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATATTATATATTTATA TTTTATTTTTATATTTATATTATATATATATTTTTATATTTATATTTATA TATTATTATATTATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATTTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(628): Show ACACGCCACACACACGCCACACACACAGGCACGCCACACACACACAGGCA CGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCACACACG CATGCCACACACAGCCACGCCACACACACACGCCACACACACACAGGCAC GCCACACACGCACGCCACACACACGCATGCCACACACACGCCACACACAC AGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACGCACGCC ACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACACACGCA CGCCACACACACGCACGCCACACACACACGCACGCCACAAACGCACGCCA CACACGCACGCCAGCCACACACGCACGCCACACACGAACGCCACACAAAC GCCACACACACGAATGCCACACGCACACCACACACGCACGCCACACACGC ACGCCACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCC ACACACGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCA TGCCACACACACAGGCACACCACACACAGGCACGCCACACACACAGGCAC GCCACACACATGCACGCCACACACGCACGCCACACG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	430	0.0023	635	c.961 others(650): Show c.961-449_961-448insCGTGTGGCGTGCGTGTGTGGCGTGCATGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGTGTGCCTGTGTGT GTGGCATGCATGTGTGGCGTGCGTGTTTGGCATGCCTGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCATGTGTGTGGCATGCCTGTGTG TGGCGTGCGTGTGTGGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTG TGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTG CGTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGTGGCGTGCGTGTGT GTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGC GTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTGGCGTGCGTG TGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTGTGTGT GGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTGTGTGGCGTGCGT GTGGCGTGCCTGTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTG GCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRAPPC12_chr2_3374694_3484565	3437762	A A	ACCCCATC others(628): Show ACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCT GGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATT AATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATA CCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATT AATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCA TCACCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03130.hp2 HG02897.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0002 a0001c0011t0001 a0001c0004t0002 a0001c0011t0001	a0001c0004t0002g0085 a0001c0011t0001g0043 a0001c0004t0002g0085 a0001c0011t0001g0043	2	344	0.0058	635	c.141 others(654): Show c.1418-6003_1418-6002insAATTAATCCCCCCACCACCCCTGGAT TAATCCCCCAATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATA CCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCAC CCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCT GGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATT AATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATA CCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTG GATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATT AATACCCCATCACCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCA TCACCCCTG	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
VEGFB_chr11_64229584_64244264	64237115	G G	GGGAGAGG others(628): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	328	0.0031	635	c.375 others(648): Show c.375-72_375-71insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACA GAC	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(628): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATAAATAATAT ATTATATATTATAAATAATATATTATATATATGTTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0130 a0001c0001t0025g0130	1	302	0.0033	635	c.-1- others(652): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATAAATAATATATTATATATTATAAATAATATATTATATATATGT TATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABR_chr17_998519_1184981	1118335	T T	TCCCTCCC others(629): Show TCCCTCCCAGCGTTAACCCTGAGACTGAGTTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCTTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTT ATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCC CAGCGTTATTGCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTG AGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTAACCC TGAGCCTGAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCTCCCCAGC ATTATCCCGGAGCCTGAGTCCTCCCCAGCATTAACCCTGAGCCTGAGTTC TCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGC CTGAGTTCTCCCCAGCTTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAT CCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAG CGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTT CTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGC CTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	337	0.0030	636	c.246 others(653): Show c.246+6847_246+6848insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCA GGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAAAGCTGGGG AGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAA CGCTGGGGAGAACTCAGGCTCAGGGTTAATGCTGGGGAGGACTCAGGCTC CGGGATAATGCTGGGGAGAACTCAGGCTCAGGGTTAACGCTGGGAGGGAC TCAGGCTCAGGGTTAACGCTGGGAGGGACTCAGGCTCAGGGATAACGCTG GGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGCA ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGG CTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGAAGA ACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGTCTCAGGGTTAACGC TGGGAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ADPRHL1_chr13_113394611_113458488	113419002	T T	TCCTCCCT others(629): Show TCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTC CCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCC TTCCCTCCCTCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCC CCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTTCCTTTCTTCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCC TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTC CCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0180 a0005c0006t0004g0180	1	262	0.0038	636	c.106 others(655): Show c.1061+3823_1061+3824insGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGAAGAAAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAA GGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGG AAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AGAP1_chr2_235489043_236136793	235598025	T T	TTGTGTGG others(629): Show TTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTC CTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCT TTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTC CTTTGTGTGGAGCGTGCACGCGTTCCCGTGTTTCCTTTGTGTGGAGCGTG CACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTT TCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCG TGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTG TTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAG CGTGCACGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCCGTT TCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	98	0.0102	636	c.163 others(657): Show c.163+103212_163+103213insTGTGGAGCGTGCACGCGCTCCCGT GTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGA GCGTGCACGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCCGT GTTTCCTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGC GTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGT GTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGA GCGTGCACGCGTTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCC GTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTG GAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTC CCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTG TGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGC TCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCCGTTTCCTTTGTGTG GAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCC GTGTTTCCTTTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235598025	T T	TTGTGTGG others(629): Show TTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTC CTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCT TTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTC CTTTGTGTGGAGCGTGCACGCGTTCCCGTGTTTCCTTTGTGTGGAGCGTG CACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTT TCCTTTGTGTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGTGTGGAGCG TGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTG TTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAG CGTGCACGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCCGTT TCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02572.hp2 HG02630.hp1 others(4): Show HG01358.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0002t0014	a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0070 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0003g0063 a0001c0002t0004g0072 a0001c0002t0004g0079 a0001c0002t0014g0052	7	98	0.0714	636	c.163 others(657): Show c.163+103212_163+103213insTGTGGAGCGTGCACGCGCTCCCGT GTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGA GCGTGCACGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCCGT GTTTCCTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGC GTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGT GTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGA GCGTGCACGCGTTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCC GTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTG GAGCGTGCACGCGCTCCCTTGTTTCCTTTGTGTGGAGCGTGCACGCGCTC CCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTG TGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGC TCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCCGTTTCCTTTGTGTG GAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGGAGCGTGCACGCGCTCCC GTGTTTCCTTTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(629): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTATA TACAGAATATATATACTATATATATTCTATATACAGAATATATATAGTAT ATATATTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAA TATATAGTATATATATTCTATATACAGAATATATATACTATATATATTCT GTATACAGAATATATATACTATATATATTCTATATACAGAATATATATAG TATATATATTCTATATATAGAATATATATATAGTATATATATTCTGTATA TAGAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATAT ATATTCTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	236	0.0042	636	c.409 others(655): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATACTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATAGTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTATA TATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATATATATTC TGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATATA CTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATAT AGAATATATATACTATATATATTCTGTATATAGAATATATATACTATATA TATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATAT ATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATGTATAC others(629): Show ATGTATACTATATGTGCTATATGATATACACGTATCATATGCCATGATAT ACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATAAATC AGTATTTTATGTATATTATATGTGCTATATGATATACACGTATCATATGC CATGATATACGTATATTATACATCATATATAAAAACATATTTTTATATAA AATATCAGTATTTTATGTATATTATATGTGCTATATGATATACACGTATC ATATGCCATGATATACGTATATTATACATCATATATAAAAACATATTTTT ATATAAAATATCAGTATTTTATGTATATTATATGTGCTATATGATATACA CGTATCATATGCCATGATATACGTATATTATACATCATATATAAAAACAT ATTTTTATATAAAATATCAGTATTTTATGTATATTATATGTGCTATATGA TATACACGTATCATATGCCATGATATACGTATATTATACATCATATATAA AAACATATTTTTATATAAAATATCAGTATTTTATGTATATTATATGTGCT ATATGATATACACGTATCATATGCCATGATATACGTATATTATACATCAT ATATAAAAACATATTTTTATATAAAATATCAGTATTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0011 a0003c0003t0007g0011	1	350	0.0029	636	c.181 others(653): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATATG TTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGT ATATCATATAGCACATATAATATACATAAAATACTGATATTTTATATAAA AATATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGAT ACGTGTATATCATATAGCACATATAATATACATAAAATACTGATATTTTA TATAAAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGCA TATGATACGTGTATATCATATAGCACATATAATATACATAAAATACTGAT ATTTTATATAAAAATATGTTTTTATATATGATGTATAATATACGTATATC ATGGCATATGATACGTGTATATCATATAGCACATATAATATACATAAAAT ACTGATATTTTATATAAAAATATGTTTTTATATATGATGTATAATATACG TATATCATGGCATATGATACGTGTATATCATATAGCACATATAATATACA TAAAATACTGATTTATTTTATATAAAAATATGTTTTTATATATGATGTAT AATATACGTATATCATGGCATATGATACGTGTATATCATATAGCACATAT AGTATACA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)