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
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(519): Show TATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATAT GTATATATATACATAGAAAATATATATACATGTTTTATATGTATATATAT ACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAA TATATATACATATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGT ATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATAT ACATAGAAAATATATGTACATATGTTTTCTATGTATATATACATAGAAAA TATATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTACA TATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATAT GTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	300	0.0033	526	c.626 others(543): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATATACATAGAAAATAT ATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTACATAT GTTTTCTATGTATATATACATAGAAAATATATGTACATATGTTTTATATG TATATATACATAGAAAATATATATACATGTTTTATATGTATATATACATA GAAAATATATATACATGTTTTATATGTATATATACATAGAAAATATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(519): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATAGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	156	0.0064	526	c.176 others(543): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACTATATATAA TATATACAATATATAATATATACTATATATATTATATACAATATATAATA TATACTATATATATTATATACAATATATAATATATACTATATATATTATA TATACAATATAAAATATATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(519): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01192.hp2 HG02809.hp1 others(2): Show HG01074.hp2 HG01192.hp2 HG02809.hp1 NA18949.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0001c0001t0001 a0001c0004t0001 a0001c0010t0001	a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0004t0001g0020 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0004t0001g0020 a0001c0004t0001g0048 a0001c0010t0001g0128	5	156	0.0321	526	c.176 others(543): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATAATATATACTATATATATTATATACAATATATAATA TATACTATATATATTATATACAATATATAATATATACTATATATATTATA TATACAATATAAAATATATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SRBD1_chr2_45383680_45616267	45586968	A A	ATATTAAA others(519): Show ATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATTTAA AATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAATAT AATTATTAAAATATTTAAAATTATTTTAAATATTTAATTATTTTAAATTA TAAATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATT TAAAATTATTTTAAAATATAATTATTAAAATATTTAAAATTATTTTAAAT ATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAA TTATAAATATTAAAATATTTAAAATTATTTTAAAATATAATTATTAAAAT ATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATATTAAAATATT TAAAAATTTTTAAATATTTATTTTAAAATATAATTATTAAAATATTTAAA ATTATTTTAAATATTTATTTTAAATTATAAATATTAAAATATTTAAAAAT TTTTAAATATTTATTTTAAAATATAAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	358	0.0028	526	c.649 others(543): Show c.649-1195_649-1194insATTATATTTTAAAATAAATATTTAAAAA TTTTTAAATATTTTAATATTTATAATTTAAAATAAATATTTAAAATAATT TTAAATATTTTAATAATTATATTTTAAAATAAATATTTAAAAATTTTTAA ATATTTTAATATTTATAATTTAAAATAAATATTTAAAATAATTTTAAATA TTTTAATAATTATATTTTAAAATAATTTTAAATATTTTAATATTTATAAT TTAAAATAATTTTAAATATTTTAATATTTATAATTTAAAATAATTAAATA TTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAATAATTTTAA ATATTTTAATATTTATAATTTAAAATAATTTTAAATATTTTAATATTTAT AATTTAAAATAATTAAATATTTAAAATAATTTTAAATATTTTAATAATTA TATTTTAAAATAATTTTAAATATTTTAATATTTATAATTTAAAATAATTT TAAATATTTTAATATTTATAATTTAAAATAATTTTAAATATTTTAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(519): Show GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	268	0.0037	526	c.75 others(537): Show c.7501_*7502insATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TERT_chr5_1248167_1300068	1273438	A A	ACATCAGA others(519): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGT CACCACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACCACATCA GACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	392	0.0026	526	c.228 others(545): Show c.2287-1159_2287-1158insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGGT GACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(519): Show GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	392	0.0026	526	c.228 others(545): Show c.2287-1361_2287-1360insTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121748000	C C	CTGGGGTA others(519): Show CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGG CACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGG GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT GGGAGGCACTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	314	0.0032	526	c.189 others(541): Show c.189-326_189-325insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATATTTAT others(519): Show ATATTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTT ATATTTATATATTATTATATTATATTTATATATTATATAAAAATATATAT CATATATATTTATATATTATATAAAAATATATATCATATATATTTATATA TTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATAT ATCATATATATTTATATATTATATAAAAATATATATCATATATATTTATA TATTATATAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAA AAATATATATCATATATATTTATATATTAAAAATATATATCATATATATT TATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAA AACTATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0048 a0001c0012t0048	a0001c0012t0048g0068 a0001c0012t0048g0068	1	128	0.0078	526	c.143 others(547): Show c.1437+28904_1437+28905insTTTATATTTTATTTTTATATTTAT ATTATATATATATTTTTATATTTATATTTATATATTATTATATTATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAACTATATATCATATATATTTATATAT TA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNS3_chr7_47270154_47587111	47363030	T T	TCACCATC others(519): Show TCACCATCATCATCATCATCACCATTACCACTATCAAGATCATTACCACC ATCAACATCATCACCATCATCACAGTCATCACCATCATCAGGGTCATCAC CATCACCATCATCATCACCATTACCACTATCAAGATCATTACCACCATCA ACATCATCACCATCATCACAGTCATCACCATCATCAGGGTCATCACCACC ATCACCATGACCATCATCACCATCAACATCATCACCACCTTCAACATCAT CACCATCATCATTGTCACCATCACCATCACCAAACAATCATGACCATCAT TATCATCACCATCATCACCATCATCTCTGTCATCATCACCATCACCATCA TCACCATCACCATCACCACTGTCATCACACCATCACCACCATCAACATCA TCACAGTCATTATCACCATCATCAGGGTCATCACCATCAACATCAGCACC ACCATCACCATCATCACCATCATCCCAGTCATCACCATCATCGCTGTCAT CATCACCATCACCATCATCACTATCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(58): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00544.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02109.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02970.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG04115.hp1 HG04199.hp1 NA18522.hp2 NA18939.hp1 NA18946.hp1 NA18952.hp2 NA18972.hp1 NA18986.hp1 NA18995.hp1 NA18998.hp1 NA19043.hp2 NA19085.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0009 a0011 a0016	a0001c0002 a0001c0004 a0001c0005 others(17): Show a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0001c0016 a0001c0022 a0001c0023 a0001c0034 a0001c0045 a0001c0056 a0001c0061 a0002c0008 a0002c0044 a0004c0011 a0004c0014 a0008c0047 a0008c0048 a0009c0024 a0011c0051 a0016c0046	a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 others(43): Show a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0002t0041 a0001c0002t0053 a0001c0002t0057 a0001c0002t0059 a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0046 a0001c0004t0054 a0001c0004t0055 a0001c0004t0056 a0001c0005t0002 a0001c0005t0003 a0001c0005t0037 a0001c0012t0009 a0001c0012t0011 a0001c0012t0015 a0001c0016t0027 a0001c0022t0001 a0001c0023t0011 a0001c0034t0005 a0001c0045t0002 a0001c0056t0034 a0001c0061t0006 a0002c0008t0001 a0002c0008t0010 a0002c0008t0012 a0002c0008t0020 a0002c0044t0016 a0004c0011t0002 a0004c0011t0009 a0004c0014t0002 a0004c0014t0009 a0008c0047t0003 a0008c0048t0007 a0009c0024t0022 a0011c0051t0011 a0016c0046t0061	a0001c0002t0005g0098 a0001c0002t0006g0049 a0001c0002t0006g0096 others(58): Show a0001c0002t0005g0098 a0001c0002t0006g0049 a0001c0002t0006g0096 a0001c0002t0006g0106 a0001c0002t0006g0110 a0001c0002t0008g0048 a0001c0002t0011g0149 a0001c0002t0011g0167 a0001c0002t0013g0094 a0001c0002t0014g0055 a0001c0002t0014g0135 a0001c0002t0018g0099 a0001c0002t0041g0071 a0001c0002t0053g0069 a0001c0002t0057g0160 a0001c0002t0059g0152 a0001c0004t0001g0038 a0001c0004t0001g0168 a0001c0004t0004g0040 a0001c0004t0004g0111 a0001c0004t0004g0117 a0001c0004t0004g0121 a0001c0004t0004g0131 a0001c0004t0004g0159 a0001c0004t0007g0147 a0001c0004t0010g0092 a0001c0004t0046g0107 a0001c0004t0054g0165 a0001c0004t0055g0058 a0001c0004t0056g0079 a0001c0005t0002g0178 a0001c0005t0003g0041 a0001c0005t0003g0125 a0001c0005t0003g0126 a0001c0005t0003g0170 a0001c0005t0037g0072 a0001c0012t0009g0089 a0001c0012t0011g0150 a0001c0012t0015g0122 a0001c0016t0027g0020 a0001c0022t0001g0109 a0001c0023t0011g0136 a0001c0034t0005g0194 a0001c0045t0002g0171 a0001c0056t0034g0051 a0001c0061t0006g0161 a0002c0008t0001g0060 a0002c0008t0010g0033 a0002c0008t0012g0081 a0002c0008t0020g0087 a0002c0044t0016g0007 a0004c0011t0002g0009 a0004c0011t0002g0112 a0004c0011t0009g0061 a0004c0014t0002g0001 a0004c0014t0009g0145 a0008c0047t0003g0044 a0008c0048t0007g0162 a0009c0024t0022g0102 a0011c0051t0011g0050 a0016c0046t0061g0196	61	196	0.3112	526	c.228 others(545): Show c.2281+5334_2281+5335insGTGATAGTGATGATGGTGATGGTGAT GATGACAGCGATGATGGTGATGACTGGGATGATGGTGATGATGGTGATGG TGGTGCTGATGTTGATGGTGATGACCCTGATGATGGTGATAATGACTGTG ATGATGTTGATGGTGGTGATGGTGTGATGACAGTGGTGATGGTGATGGTG ATGATGGTGATGGTGATGATGACAGAGATGATGGTGATGATGGTGATGAT AATGATGGTCATGATTGTTTGGTGATGGTGATGGTGACAATGATGATGGT GATGATGTTGAAGGTGGTGATGATGTTGATGGTGATGATGGTCATGGTGA TGGTGGTGATGACCCTGATGATGGTGATGACTGTGATGATGGTGATGATG TTGATGGTGGTAATGATCTTGATAGTGGTAATGGTGATGATGATGGTGAT GGTGATGACCCTGATGATGGTGATGACTGTGATGATGGTGATGATGTTGA TGGTGGTAATGATCTTGATAGTGGTAATGGTGATGATGATGATGATGGTG	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	17/30			chr7	TogoVar
TRPC4AP_chr20_34997404_35097807	35097570	T T	TGTGTATA others(519): Show TGTGTATATACATATATACATATACACACATGTGTGTATATATACATATA CACACATGTGTGTGTATATACATATACACGCGTGCGTATATACATATACA CGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTG CGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATA TACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	334	0.0030	526	c.-47 others(537): Show c.-4790_-4789insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTAT ATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATAT ATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGC ACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGT GTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATAT GTATATACGCACGCGTGTATATGTATATACACACACATGTGTGTATATGT ATATATACACACATGTGTGTATATGTATATATGTATATACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4764		chr20	TogoVar
TUBA8_chr22_18105809_18136732	18106326	C C	CGTGGTTC others(519): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTC CAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTCA GTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGTCT GAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCTGA GTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGAGT CTGAAGCCTGAGACCCAGGAGAGCTGAATACATAGTTCCAGTCGGAGTCT GAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGA AGCCCGAGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 NA20300.hp2 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0061 a0001c0001t0001g0062	2	426	0.0047	526	c.-45 others(537): Show c.-4540_-4539insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCT GAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAG ACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGAC ATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGT GGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACATAG TTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTT CCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4482		chr22	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(519): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	246	0.0041	526	c.53- others(539): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(519): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	246	0.0041	526	c.-10 others(543): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZC3H12B_chrX_65029826_65512887	65450477	G G	GTATATAT others(519): Show GTATATATGTATATATGTACATATGTGTATATATGTATATATGTATATAT GTACATATGTATATATATGTATATATGTACATATGTATATATATGTATAT ATGTATATATACATATGTATATATATGTACATATGTATATATATACATGT ATACATATGTATACATGTATATATATACATATGTATACATGTATATATGT ATATATATACATGTATACATATGTATATATGTATACATATGTATATATGT ATATATGTATAAATATACATATGTATATATATGTATATATGTATACATAT GTATATATACATATGTATATATATGTATATATGTATACATATGTATATAT ACATATGTATATATATGTATACATATGCATATATACATATGTATATATAT GTATATATGTATACATATGTATATATGCATATATATACATATGTATATAT GCATATATATACATATGTATATATGCATATATATACATATGTATATATGC ATATATATACATATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	165	0.0061	526	c.-15 others(547): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTGTAT ATATGTATATATGTATATATGTACATATGTATATATATGTATATATGTAC ATATGTATATATATGTATATATGTATATATACATATGTATATATATGTAC ATATGTATATATATACATGTATACATATGTATACATGTATATATATACAT ATGTATACATGTATATATGTATATATATACATGTATACATATGTATATAT GTATACATATGTATATATGTATATATGTATAAATATACATATGTATATAT ATGTATATATGTATACATATGTATATATACATATGTATATATATGTATAT ATGTATACATATGTATATATACATATGTATATATATGTATACATATGCAT ATATACATATGTATATATATGTATATATGTATACATATGTATATATGCAT ATATATACATATGTATATATGCATATATATACATATGTATATATGCATAT ATATACATATGTATATATGCATATATATACATATGTGTATATATGTATAT AT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZFPM1_chr16_88448280_88542031	88461053	C C	CCTGGTGA others(519): Show CCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGG AGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTG ATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCG GGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCG AGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCC TGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCG GGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGG GCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGG ACCGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTG AGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTG GTGAGGACCCAGGGATGGGGCGGGAGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	318	0.0031	526	c.40+ others(541): Show c.40+7376_40+7377insTGGTGAGGACCGAGGGGTGGGGCGGGAGGC CTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGC GGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGA GGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGG GAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGA GGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCT GGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGG TCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGG GCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCGAG GGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACC AAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGAC	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(519): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATATATCACACATATCATATATATCA TACATATCACATATATCATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATGATATATATCATATATATCACATATATCAT ATATATCATATATATCACATATATCATATATATCATATATATCACATATA TGATATATATATCATATATATCACATATATGATATATATATCATATATAT CACATATATGATATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	526	c.-36 others(537): Show c.-3663_-3662insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATATATCACAC ATATCATATATATCATACATATCACATATATCATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATGATATATATCATATA TATCACATATATCATATATATCATATATATCACATATATCATATATATCA TATATATCACATATATGATATATATATCATATATATCACATATATGATAT ATATATCATATATATCACATATATGATATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3559		chr10	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(520): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01943.hp2 HG01952.hp1 others(2): Show HG01261.hp2 HG01943.hp2 HG01952.hp1 HG03491.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	418	0.0120	527	c.-10 others(538): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(520): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	527	c.-10 others(538): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATATATATAAATTTTTA TATATGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(520): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	527	c.-10 others(538): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAM22_chr7_87929251_88207889	88110829	G G	GCCTCCCA others(520): Show GCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTATAGGCACCTGCCACCATGGCTGGCTAATTTTGTATTTCACTTTGGG AGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGCGACCAGCCTGG CCAACCTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGC GTGGTGGCGGGTGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAG AACCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCA TTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCATGTCAAAAAAAAAAA AAAACCCAAGGAAAAATAACTTTTAGGAGATTGCATAATAACTGGATCAG GAATAGAACTCAGAATCCTGCCTTAGTTATGTATTTTTATTTTTATTGTA TTTTATTTTTGAGATGGAGTCTCGTTCTGTTGCCAGGTTGGAGTGTAGTG GCACGATCTCAGCTCACTGCAACCTCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03579.hp1 HG00639.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0029 a0001c0001t0023g0028 a0001c0001t0001g0029 a0001c0001t0023g0028	2	230	0.0087	527	c.473 others(544): Show c.473+2580_473+2581insCTCAAGTGATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGATTATAGGCACCTGCCACCATGGCTGGCTAATTTTGTA TTTCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTG CGACCAGCCTGGCCAACCTGATGAAACCCCGTCTCTACTAAAAATACAAA AATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCTCAGCTACTTGGGAGG CTGAGGCAGGAGAACCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCT GAGATCATGCCATTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCATGT CAAAAAAAAAAAAAAACCCAAGGAAAAATAACTTTTAGGAGATTGCATAA TAACTGGATCAGGAATAGAACTCAGAATCCTGCCTTAGTTATGTATTTTT ATTTTTATTGTATTTTATTTTTGAGATGGAGTCTCGTTCTGTTGCCAGGT TGGAGTGTAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGG	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88110829	G G	GCCTCCCA others(520): Show GCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTATAGGCACCTGCCACCATGGCTGGCTAATTTTGTATTTCACTTTGGG AGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGCGACCAGCCTGG CCAACCTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGC GTGGTGGCGGGTGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAG AACCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCA TTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCGTGTCAAAAAAAAAAA AAAACCCAAGGAAAAATAACTTTTAGGAGATTGCATAATAACTGGATCAG GAATAGAACTCAGAATCCTGCCTTAGTTATGTATTTTTATTTTTATTGTA TTTTATTTTTGAGATGGAGTCTCGTTCTGTTGCCAGGTTGGAGTGTAGTG GCACGATCTCAGCTCACTGCAACCTCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01071.hp2 others(23): Show HG00639.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01169.hp1 HG01433.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp2 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0019 a0001c0001 a0001c0018 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022 a0001c0018t0024 a0001c0019t0001	a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0083 others(23): Show a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0084 a0001c0001t0002g0201 a0001c0001t0003g0114 a0001c0001t0005g0053 a0001c0001t0005g0061 a0001c0001t0007g0059 a0001c0001t0007g0076 a0001c0001t0011g0230 a0001c0001t0014g0068 a0001c0001t0022g0066 a0001c0018t0024g0112 a0001c0019t0001g0078	26	230	0.1130	527	c.473 others(544): Show c.473+2580_473+2581insCTCAAGTGATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGATTATAGGCACCTGCCACCATGGCTGGCTAATTTTGTA TTTCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTG CGACCAGCCTGGCCAACCTGATGAAACCCCGTCTCTACTAAAAATACAAA AATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCTCAGCTACTTGGGAGG CTGAGGCAGGAGAACCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCT GAGATCATGCCATTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCGTGT CAAAAAAAAAAAAAAACCCAAGGAAAAATAACTTTTAGGAGATTGCATAA TAACTGGATCAGGAATAGAACTCAGAATCCTGCCTTAGTTATGTATTTTT ATTTTTATTGTATTTTATTTTTGAGATGGAGTCTCGTTCTGTTGCCAGGT TGGAGTGTAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGG	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88110829	G G	GCCTCCCA others(520): Show GCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTATAGGCACCTGCCACCATGGCTGGCTAATTTTGTATTTCACTTTGGG AGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGCGACCAGCCTGG CCAACCTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGC GTGGTGGCGGGTGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAG AACCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCA TTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCGTGTCAAAAAAAAAAA AAAACCCAAGGAAAAATAACTTTTAGGAGATTGCATAATAACTGGATCAG GAATAGAACTCAGAATCCTGCCTTAGTTATGTATTTTTATTTTTATTGTA TTTTATTTTTGAGATGGAGTCTCGTTCTGTTGCCAGGTTGGAGTGTAGTG GCACGATTTCAGCTCACTGCAACCTCCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	230	0.0044	527	c.473 others(544): Show c.473+2580_473+2581insCTCAAGTGATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGATTATAGGCACCTGCCACCATGGCTGGCTAATTTTGTA TTTCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTG CGACCAGCCTGGCCAACCTGATGAAACCCCGTCTCTACTAAAAATACAAA AATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCTCAGCTACTTGGGAGG CTGAGGCAGGAGAACCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCT GAGATCATGCCATTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCGTGT CAAAAAAAAAAAAAAACCCAAGGAAAAATAACTTTTAGGAGATTGCATAA TAACTGGATCAGGAATAGAACTCAGAATCCTGCCTTAGTTATGTATTTTT ATTTTTATTGTATTTTATTTTTGAGATGGAGTCTCGTTCTGTTGCCAGGT TGGAGTGTAGTGGCACGATTTCAGCTCACTGCAACCTCCACCTCCCAGG	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ARHGAP39_chr8_144524179_144690846	144687391	G G	GGCGAGCA others(520): Show GGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCTCA CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC GTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAG CGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCC ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACTCATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	246	0.0041	527	c.-17 others(538): Show c.-1788_-1787insTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGAGAA GTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1546		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(520): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18952.hp2 NA18992.hp2 others(1): Show NA18949.hp1 NA18952.hp2 NA18992.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047	4	298	0.0134	527	c.955 others(544): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835499	C C	CCGCAGCC others(520): Show CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCCTGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	391	0.0026	527	c.36 others(538): Show c.3622_*3623insCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC TCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3482		chr19	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(520): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCT CCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCC TTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTC ATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCT CTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCC TCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCA CCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAG CCCCTCCTCCTCCTCCAGCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCC TTCCTCCTTCAGCCCCTCCTCCTCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0001 a0001c0001t0052g0001	1	334	0.0030	527	c.-10 others(538): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCC TCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCT CTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCC TCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCC TCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAG CCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCTCCTCCTCCAGCCC TTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(520): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGA GGGCGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp1 HG01361.hp2 others(5): Show HG01099.hp1 HG01256.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0134 a0002c0002t0001g0193 others(3): Show a0002c0002t0001g0005 a0002c0002t0001g0134 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0205 a0002c0002t0001g0239	8	410	0.0195	527	c.465 others(542): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCC CGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCG CCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCT CCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCC CTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(520): Show ATATATATATAATTATATATATATAATTATATATATTTTTATATATATAT AATTATATATATATAATTATATATATTTTTATATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATTATATATATAATTATATA TATATATTATATATATAATTATATATATATATTATATATATAATTTTATA TATATATAATTATATATATAATTTTATATATATAATTATATATATATATA ATTATATATATAATTTTATATATATAATTATATATATAATTTTATATATA TAATTATATATATAATTTTATATATATAATTATATATATAATTTTATATA TATATAATTATATATATATAATTTTATATATAATTTTATATATATAAAAT TATATATATAATTATATATATATAATTATATATATAATTTTATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA ATTATATATATAATTTTATATATAATTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0108 a0002c0002t0013g0108	1	330	0.0030	527	c.907 others(542): Show c.907+205_907+206insAAATTATATATAAAATTATATATATAATTA TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATATATAATTATATATATATAATTATATATATAAT TTTATATATATAAAATTATATATAAAATTATATATATATAATTATATATA TATAAAATTATATATATAATTATATATATAAAATTATATATATAATTATA TATATAAAATTATATATATAATTATATATATAAAATTATATATATAATTA TATATATATATAATTATATATATAAAATTATATATATAATTATATATATA TAAAATTATATATATAATATATATATATAATTATATATATAATATATATA TATAATTATATATATAATATATATATAATTATATATATAATTTTATATAT ATATAATTATATATATATAAAAATATATATAATTATATATATATAATTAT ATATATATAAAAATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN15_chr16_522712_559636	544791	T T	TCGCCTCC others(520): Show TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19056.hp1 NA19005.hp2 NA19056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0311 a0001c0004t0002g0318 a0001c0004t0002g0311 a0001c0004t0002g0318	2	410	0.0049	527	c.-22 others(544): Show c.-22-2024_-22-2023insCCTCCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCC ACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCAC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(520): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCC TCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCC CCTCACCCCTGCGCCCCTCACCCTCCGCCTCTCACCCCTCCGCCCCCCAC CCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCC GCCCCTCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCCTCCGCCCC TCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCACC CTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTCCA CCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0062 a0002c0062	a0002c0062t0003 a0002c0062t0003	a0002c0062t0003g0310 a0002c0062t0003g0310	1	322	0.0031	527	c.326 others(544): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGA GGGGCGGAGGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGC GGAGGGATGAGAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGG GTGGGGGGCGGAGGGGTGAGAGGCGGAGGGTGAGGGGCGCAGGGGTGAGG GGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGA GGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAG GGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCCGA GGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATG AGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(520): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCT TCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	256	0.0039	527	c.-45 others(548): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(520): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATCATATATATTCATATA TATATCATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0147 a0001c0007t0017g0147	1	182	0.0055	527	c.267 others(544): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATCATATATATTCATATATA TATCATATATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL23A1_chr5_178232618_178595393	178585731	C C	CACAGCCC others(520): Show CACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCT GGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATG GCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTA CAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCT GGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACG CCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGC GCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACA GCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0224 a0001c0001t0014g0224	1	236	0.0042	527	c.294 others(544): Show c.294+4172_294+4173insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGC GCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGG CGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCC AGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTG TTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAG GGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587718	A A	ACCCCCGT others(520): Show ACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACG GCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGAAACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	348	0.0029	527	c.927 others(542): Show c.927+656_927+657insACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTTACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCG TGTTACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGA AACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(520): Show TATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCA CCACTACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTG TCACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCA TTACTGTCACCACTACCTGCCCACCACC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	396	0.0025	527	c.513 others(542): Show c.513-895_513-894insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCG CCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACCA CCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCACC TGTCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251048	A A	ACCCCCCA others(520): Show ACCCCCCACACCCCCCAAATCCCCCACACCCCCCACACACCCCACACCCC CCAAATCCCCCACACCTCCCACATCCCCCCACACCACACACACCCCCACA CCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCA CACCCCCCACATCCCCCACACCTCCCACATCCCCCCACATCCCCCACACC CCCCACACATCCCCCACACCCCCCACACCCCCCACACATCCCCCACACCC CCACACCCCCCACATCCCCCACACCCCCCACACCACACATCCCTCACACC CCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACA CCACACATCCCTCACACCCCCCACACCCCCCACATCCCCCACACCCCCAC ACACCCCCCACACCCCCACACCCCCCACACCCCCCAACACCCCCACACCA CACATCCCTCACACCCCACACACCCCCCACATCCCCCACACCCCCCACAC CCCCCACATCCCCCACACCCCCCACATC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	116	0.0086	527	c.207 others(546): Show c.2073+1366_2073+1367insCCCCACACCCCCCAAATCCCCCACAC CCCCCACACACCCCACACCCCCCAAATCCCCCACACCTCCCACATCCCCC CACACCACACACACCCCCACACCACACATCCCCCACACCCCCAAATCCCC CACACCCCCCACATCTCCCCACACCCCCCACATCCCCCACACCTCCCACA TCCCCCCACATCCCCCACACCCCCCACACATCCCCCACACCCCCCACACC CCCCACACATCCCCCACACCCCCACACCCCCCACATCCCCCACACCCCCC ACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTC ACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACCCC CCACATCCCCCACACCCCCACACACCCCCCACACCCCCACACCCCCCACA CCCCCCAACACCCCCACACCACACATCCCTCACACCCCACACACCCCCCA CATCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCCACATCC C	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132149309	G G	GCTCACAC others(520): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCATACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	527	c.-50 others(538): Show c.-5014_-5013insTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAT GAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGA GGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGC CGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGA GGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGAT TAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGG TGTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGT GTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGT GAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4991		chr12	TogoVar
DIP2C_chr10_269201_694668	556200	A A	ACCCCTCC others(520): Show ACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCG GATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACG GCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCCC TCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGG ATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACG GCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCAC CCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGC CGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGA CGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCC ACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACA GCCGGATCCCAGGACGGCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	88	0.0114	527	c.86- others(544): Show c.86-69671_86-69670insGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGG GTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC CGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGAT CCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC CGTCCTGGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATC CGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522759	G G	GAGCCCAG others(520): Show GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGGCCCAGCGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0010 a0011c0022t0010	a0011c0022t0010g0023 a0011c0022t0010g0023	1	358	0.0028	527	c.236 others(546): Show c.2363-1183_2363-1182insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCA AGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCG A	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(520): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAG GGAGGGAAGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAA GAGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGA AAGGAGGAAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGA GGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGA AGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0265 a0006c0006t0001g0265	1	290	0.0035	527	c.757 others(544): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTTCCTCCTT TCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTC TTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCCTTCCCTCC CTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCC TCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCC CTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCC ATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTC CCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTC CATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
FAM107B_chr10_14513557_14779897	14568337	G G	GGGAGGAG others(520): Show GGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGGTGAAGA TACTCAGGTAGAAGGCTGGCTGATCCCAGGGTTAGACCAGGAGGTGAAGA TACTGGAGGAGAAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGGTGA AGATACTAGAGGAGGAGGCTGGCTGATCCCAGGGTTAGACCAGGAGGTGA AGATACTGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGG TGAAGATACTGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGG AGGTGAAGATACTCAGGTAAGAGGAGGCTGGCTGATGATCTCAGGGTTAG ACCAGGAGGTGAAGATACTTGGGTAGGAGGAGGGCGGCTGATCTCTGGGT TAGACCAGGAGGTGAAGATACTTGGGTAGGAGGAGGGCGGCTGATCTCTG GGTTAGACCAGGAGGTGAAGATACTCGGGTAGGAGGAGGGTGGCTGATCT CTGGGTTAGACCAGGAGGTGAAGACACT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	272	0.0037	527	c.470 others(546): Show c.470-37823_470-37822insAGTGTCTTCACCTCCTGGTCTAACCC AGAGATCAGCCACCCTCCTCCTACCCGAGTATCTTCACCTCCTGGTCTAA CCCAGAGATCAGCCGCCCTCCTCCTACCCAAGTATCTTCACCTCCTGGTC TAACCCAGAGATCAGCCGCCCTCCTCCTACCCAAGTATCTTCACCTCCTG GTCTAACCCTGAGATCATCAGCCAGCCTCCTCTTACCTGAGTATCTTCAC CTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTCCAGTATCTT CACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTCCAGTAT CTTCACCTCCTGGTCTAACCCTGGGATCAGCCAGCCTCCTCCTCTAGTAT CTTCACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTTCTCCTCCAG TATCTTCACCTCCTGGTCTAACCCTGGGATCAGCCAGCCTTCTACCTGAG TATCTTCACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTC C	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14568337	G G	GGGAGGAG others(520): Show GGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGGTGAAGA TACTCAGGTAGAAGGCTGGCTGATCCCAGGGTTAGACCAGGAGGTGAAGA TACTGGAGGAGAAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGGTGA AGATACTAGAGGAGGAGGCTGGCTGATCCCAGGGTTAGACCAGGAGGTGA AGATACTGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGG TGAAGATACTGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGG AGGTGAAGATACTCAGGTAAGAGGAGGCTGGCTGATGATCTCAGGGTTAG ACCAGGAGGTGAAGATACTTGGGTAGGAGGAGGGCGGCTGATCTCTGGGT TAGACCAGGAGGTGAAGATACTTGGGTAGGAGGAGGGCGGCTGATCTCTG GGTTAGACCAGGAGGTGAAGATACTCGGGTAGGAGGAGGGTGGCTGATCT CTGGGTTAGACCAGGAGGTGAAGATACT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(202): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0003t0002 a0001c0003t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0014 a0002c0002t0022 a0002c0005t0002 a0002c0005t0027 a0003c0004t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(202): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0141 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0186 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0004g0017 a0001c0001t0004g0029 a0001c0001t0004g0101 a0001c0001t0004g0110 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0166 a0001c0001t0004g0189 a0001c0001t0004g0200 a0001c0001t0004g0204 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0072 a0001c0001t0005g0074 a0001c0001t0005g0177 a0001c0001t0005g0235 a0001c0001t0006g0036 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0130 a0001c0001t0006g0154 a0001c0001t0006g0169 a0001c0001t0006g0193 a0001c0001t0007g0068 a0001c0001t0007g0107 a0001c0001t0007g0109 a0001c0001t0007g0114 a0001c0001t0007g0123 a0001c0001t0007g0209 a0001c0001t0008g0039 a0001c0001t0008g0061 a0001c0001t0008g0073 a0001c0001t0008g0151 a0001c0001t0008g0190 a0001c0001t0008g0230 a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0075 a0001c0001t0009g0102 a0001c0001t0009g0143 a0001c0001t0010g0086 a0001c0001t0010g0095 a0001c0001t0010g0197 a0001c0001t0010g0225 a0001c0001t0012g0054 a0001c0001t0012g0055 a0001c0001t0012g0192 a0001c0001t0014g0227 a0001c0001t0015g0019 a0001c0001t0016g0124 a0001c0001t0017g0018 a0001c0001t0018g0112 a0001c0001t0019g0094 a0001c0001t0021g0145 a0001c0001t0023g0183 a0001c0001t0024g0136 a0001c0001t0025g0087 a0001c0001t0026g0117 a0001c0001t0034g0272 a0001c0003t0002g0118 a0001c0003t0002g0132 a0001c0003t0005g0226 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0248 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0261 a0002c0002t0001g0267 a0002c0002t0002g0245 a0002c0002t0002g0251 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0260 a0002c0002t0002g0263 a0002c0002t0002g0269 a0002c0002t0004g0246 a0002c0002t0004g0270 a0002c0002t0006g0268 a0002c0002t0007g0262 a0002c0002t0010g0259 a0002c0002t0014g0240 a0002c0002t0022g0253 a0002c0005t0002g0249 a0002c0005t0027g0258 a0003c0004t0001g0236 a0003c0004t0001g0237 a0004c0006t0001g0001	205	272	0.7537	527	c.470 others(546): Show c.470-37823_470-37822insAGTATCTTCACCTCCTGGTCTAACCC AGAGATCAGCCACCCTCCTCCTACCCGAGTATCTTCACCTCCTGGTCTAA CCCAGAGATCAGCCGCCCTCCTCCTACCCAAGTATCTTCACCTCCTGGTC TAACCCAGAGATCAGCCGCCCTCCTCCTACCCAAGTATCTTCACCTCCTG GTCTAACCCTGAGATCATCAGCCAGCCTCCTCTTACCTGAGTATCTTCAC CTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTCCAGTATCTT CACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTCCAGTAT CTTCACCTCCTGGTCTAACCCTGGGATCAGCCAGCCTCCTCCTCTAGTAT CTTCACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTTCTCCTCCAG TATCTTCACCTCCTGGTCTAACCCTGGGATCAGCCAGCCTTCTACCTGAG TATCTTCACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTC C	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14568337	G G	GGGAGGAG others(520): Show GGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGGTGAAGA TACTCAGGTAGAAGGCTGGCTGATCCCAGGGTTAGACCAGGAGGTGAAGA TACTGGAGGAGAAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGGTGA AGATACTAGAGGAGGAGGCTGGCTGATCCCAGGGTTAGACCAGGAGGTGA AGATACTGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGG TGAAGATACTGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGG AGGTGAAGATACTCAGGTAAGAGGAGGCTGGCTGATGATGTCAGGGTTAG ACCAGGAGGTGAAGATACTTGGGTAGGAGAAGGGCGGCTGATCTCTGGGT TAGACCAGGAGGTGAAGATACTTGGGTAGGAGGAGGGCGGCTGATCTCTG GGTTAGACCAGGAGGTGAAGATACTCGGGTAGGAGGAGGGTGGCTGATCT CTGGGTTAGACCAGGAGGTGAAGATACT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	272	0.0037	527	c.470 others(546): Show c.470-37823_470-37822insAGTATCTTCACCTCCTGGTCTAACCC AGAGATCAGCCACCCTCCTCCTACCCGAGTATCTTCACCTCCTGGTCTAA CCCAGAGATCAGCCGCCCTCCTCCTACCCAAGTATCTTCACCTCCTGGTC TAACCCAGAGATCAGCCGCCCTTCTCCTACCCAAGTATCTTCACCTCCTG GTCTAACCCTGACATCATCAGCCAGCCTCCTCTTACCTGAGTATCTTCAC CTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTCCAGTATCTT CACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTCCAGTAT CTTCACCTCCTGGTCTAACCCTGGGATCAGCCAGCCTCCTCCTCTAGTAT CTTCACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTTCTCCTCCAG TATCTTCACCTCCTGGTCTAACCCTGGGATCAGCCAGCCTTCTACCTGAG TATCTTCACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTC C	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FBXO34_chr14_55266421_55358611	55332023	T T	TACACCAC others(520): Show TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA20129.hp1 HG01361.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0256 a0001c0001t0001g0257	2	334	0.0060	527	c.-10 others(546): Show c.-10-18356_-10-18355insACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATAT ATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA C	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(520): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	204	0.0049	527	c.240 others(546): Show c.240+55587_240+55588insCATTGGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG T	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(520): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	204	0.0049	527	c.240 others(546): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTG GAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG T	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(520): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00673.hp1 others(13): Show HG00323.hp2 HG00558.hp1 HG00673.hp1 HG01433.hp1 HG01496.hp2 HG02145.hp2 HG02809.hp1 HG02970.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18967.hp2 NA18971.hp2 NA18989.hp2 NA19043.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0004t0002	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0175 others(13): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0002g0028 a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0003g0144 a0001c0001t0004g0165 a0001c0001t0006g0076 a0001c0001t0010g0073 a0001c0001t0012g0093 a0001c0001t0017g0086 a0001c0004t0002g0169	16	204	0.0784	527	c.240 others(546): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG T	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(520): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTA GCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	204	0.0049	527	c.240 others(546): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGA GCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG T	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(520): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	204	0.0049	527	c.240 others(546): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG T	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar

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Search Results (Total: 10000 hits)