Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FOXN3_chr14_89151177_89422233	89361263	A A	ACCACCTC others(419): Show ACCACCTCCACCACCACCACCACCACCACCTCCACCACCACCACCTCCAG CACTACCTCCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCA CCACCTCCAGCACTACCTCCACCACCACCTCCACCACCACCTCCACCACC ACCTCCACCACCACCACCTCCAGCACTACCTCCACCACCACCTCCAGCAC CACCTCCACCACCTCCACCACCACCTCCACCACCACCTCCAGCACCACCA CCACCACCTCCACCACCACCTCCACCACCACCTCCAGCACCACCTCCACC ACCACCTCCACCACTACCACCTCCAGCACCACCACCACCACCTCCACCAC CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCACCA CCTCCACCACCACCTCCAGCACCACCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0008 a0001c0001t0033g0008	1	230	0.0044	426	c.544 others(445): Show c.544-10456_544-10455insAGGTGGTGCTGGAGGTGGTGGTGGAG GTGGTGGTGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGT GGTGGTGGAGGTGGTGGTGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGG TGGTGGAGGTGGTGCTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTG GTGGTGGTGCTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGT GGTGCTGGAGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTGGTGGTGGAGG TGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGCTGGAGGTG GTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGAGGTAGT GCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(419): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATGTATAGTATATATACACTATATATATAGTATATATACACTATA TATATAGTATATATACACTATATATAGTATATATACACTATATATATAGT ATATATACACTATATATATAGTATATATACACTATATATAGTATATATAT ACTATATATATAGTGTATATATACACTGTATATGTATATATAGTGTATAT ATACACTATATATACACTGTATATGTATATATAGTGTATATATACACTAT ACACTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGT ATATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTAT ATATACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	204	0.0049	426	c.114 others(445): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATAGTGTATATATACACTATATATACATATACAGTGTATATATAGTGTA TATATACACTATATATACATATACAGTGTATATATACACTATATATATAG TATATATATACTATATATAGTGTATATATACTATATATATAGTGTATATA TACTATATATATAGTGTATATATACTATATATAGTGTATATATACTATAT ATATAGTGTATATATACTATATATATAGTGTATATATACTATACATAGTG TATATATACTATACATATATAGTGTATATATAGTGTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241807178	T T	TTCCCTCC others(419): Show TTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	314	0.0032	426	c.30 others(437): Show c.3012_*3013insTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2892		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807495	T T	TCCCTCCT others(419): Show TCCCTCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAAC CCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTC GGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCC TCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGG ACCTCGGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGC CACCCTCCCTCCCTCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTC CCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	314	0.0032	426	c.33 others(437): Show c.3329_*3330insCCCTCCTCAGCCCAGGGACCTCGGCAGGCCACCC TCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCT CAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGAC CTCGGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCC CTCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCGGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCGGC AGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCC CTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3209		chr2	TogoVar
GPIHBP1_chr8_143208218_143222170	143218054	C C	CCCCAACA others(419): Show CCCCAACACCATCCCCAACACCACCCCCCACACCACCCCAACACCACCCC CAACACCACCCAACACCACCCCACACCACCCCCACACCACCCCAACACCG CCCCCACACCACCCACCACCACCCACCACAAGGCCCAACACCACCCCCCA CACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCAACACCACCCCAACACCATCCCCAACACCAC CCCCAACACCACCCAACACCACCCCCAACACCACCCAACACCACCCCACA CCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCAC CCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0004 a0001c0004t0003g0004	1	106	0.0094	426	c.25 others(437): Show c.2536_*2537insCCCAACACCATCCCCAACACCACCCCCCACACCA CCCCAACACCACCCCCAACACCACCCAACACCACCCCACACCACCCCCAC ACCACCCCAACACCGCCCCCACACCACCCACCACCACCCACCACAAGGCC CAACACCACCCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACAC CATCCCCAACACCACCCCCAACACCACCCAACACCACCCCCAACACCACC CAACACCACCCCACACCACCCCCAACACCACCCCCAACACCACCCCAACA CCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCAT CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		885		chr8	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(419): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGA GATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCC CTACACCACCTTCCCCACCCCGAGACT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18906.hp1 HG00438.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0250 a0001c0001t0001g0252	2	370	0.0054	426	c.134 others(443): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAG ATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCC TACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTC ATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCC ACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCC TCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(419): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGA GATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCC CTACACCACCTTCCCCACCCCGAGACT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0235 a0001c0001t0021g0235	1	370	0.0027	426	c.134 others(443): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAG ATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCC TACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTC ATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCC ACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCC TCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(419): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGA GATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCC CTACACCACCTTCCCCACCCCGAGACT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	370	0.0027	426	c.134 others(443): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAG ATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCC TACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTC ATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCC ACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCC TCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010918	C C	CCACCCCG others(419): Show CCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATC CCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCT GGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTC TGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGG CCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCAC CTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCT GCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAG ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCACCCCTCCATCCT GACTGTGCCTCCTGCACCTCTTCCCCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	370	0.0027	426	c.134 others(443): Show c.1344+429_1344+430insCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTAC ACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATT CTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACC CCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCC ATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGG AGATGCTGGGCCCCTTCATTCTCCTGCACCCCTCCATCCTGACTGTGCCT CCTGCACCTCTTCCCCTCACCCCGAGACTCTGGTGGAGATGCTGGGCC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(419): Show ACATGTATATAACATATACTTATATATTATATACATGTATATAACATATA CTTATATATTATATACATGTATATAACATATACTTATATATTATATACAT GTATATAACATATACTTATATATTATATACATGTATATAACATATAGTTA TGTATATTATATACATGTATATAACATATAGTTATGTATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGT TATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATAC ATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATATA GTTATGTATATTATATACATGTATATAACATATAGTTATGTATATTATAT ACATGTATATAACATATAGTTATGTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG02132.hp2 others(6): Show HG00438.hp1 HG00597.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 NA18946.hp2 NA18999.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0060 others(2): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0060 a0001c0002t0007 a0001c0002t0008	a0001c0001t0007g0027 a0001c0001t0007g0056 a0001c0001t0007g0057 others(6): Show a0001c0001t0007g0027 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0001t0008g0023 a0001c0001t0008g0077 a0001c0001t0060g0058 a0001c0002t0007g0187 a0001c0002t0007g0188 a0001c0002t0008g0194	9	256	0.0352	426	c.183 others(445): Show c.1837-1306_1837-1305insATACATAACTATATGTTATATACATG TATATAATATACATAACTATATGTTATATACATGTATATAATATACATAA CTATATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATATAAGTATATGTTATATA CATGTATATAATATATAAGTATATGTTATATACATGTATATAATATATAA GTATATGTTATATACATGTATATAATATATAAGTATATGTTATATACATG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HDAC4_chr2_239043168_239406020	239124736	T T	TGCATTAT others(419): Show TGCATTATATGACATTCCATGTTATGTGACATTCCGGTGTGCCGGCGTGT GGCCGCGTTATATGACATTCCAGTGTGCCGGCGTGTGGCCGCGTTATATG ACATTCCGGTGTGCCAGCGTGTGGCCGTGTTATATGACATTCCATGTTAT GTGACATTCTGGTGTGCTGGCGTGTGGCTACGTTATATGACATTCCACGT TATATGACATTCCGGTGTGCCGGCGTGTGGCCGCATTATATGACATTCTG GTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCACGTTATGTGACATT CCGGTGTGCTGGCGTGCGGCCGTGTTATATGACATTCCACGTTATGTGAC ATTCCGGTGTGCCGGCGTGCGGCCGCGTTACATGACATTCCACGTTATGT GACATTCCGGTGTGCTGGCGTGCGGCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0053 a0001c0001t0037g0053	1	242	0.0041	426	c.153 others(445): Show c.1533+1719_1533+1720insGGCCGCACGCCAGCACACCGGAATGT CACATAACGTGGAATGTCATGTAACGCGGCCGCACGCCGGCACACCGGAA TGTCACATAACGTGGAATGTCATATAACACGGCCGCACGCCAGCACACCG GAATGTCACATAACGTGGAATGTCATATAACGCGGCCACACGCCGGCACA CCAGAATGTCATATAATGCGGCCACACGCCGGCACACCGGAATGTCATAT AACGTGGAATGTCATATAACGTAGCCACACGCCAGCACACCAGAATGTCA CATAACATGGAATGTCATATAACACGGCCACACGCTGGCACACCGGAATG TCATATAACGCGGCCACACGCCGGCACACTGGAATGTCATATAACGCGGC CACACGCCGGCACACCGGAATGTCACATAACATGGAATGTCATATAATGC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACACTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTG CGGCCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0070 a0001c0023t0070	a0001c0023t0070g0094 a0001c0023t0070g0094	1	242	0.0041	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAC GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCG GCACACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTG GAATGTCATATAACGCGGCCACACGCCGGCACACCGGAGTGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCATGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCCGGCGTG CGGCCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	242	0.0041	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCGGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAC GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCG GCACACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACATGCCGGCACACTG GAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CATTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCCGGCGTG CGGCCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA20129.hp2 HG02148.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0001 a0001c0031t0001 a0001c0001t0001 a0001c0031t0001	a0001c0001t0001g0241 a0001c0031t0001g0064 a0001c0001t0001g0241 a0001c0031t0001g0064	2	242	0.0083	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCGGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAT GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCG GCACACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTG GAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCCGGCGTG CGGCCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(66): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18954.hp2 NA18961.hp2 NA18977.hp1 NA18990.hp1 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19068.hp1 NA19079.hp2 NA19090.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0033 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0026 a0001c0001t0049 a0001c0001t0063 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0020 a0001c0002t0024 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0045 a0001c0008t0001 a0001c0008t0023 a0001c0012t0028 a0001c0033t0001 a0003c0013t0002	a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0057 others(66): Show a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0237 a0001c0001t0002g0160 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0004g0182 a0001c0001t0006g0189 a0001c0001t0006g0205 a0001c0001t0008g0166 a0001c0001t0011g0201 a0001c0001t0011g0212 a0001c0001t0014g0159 a0001c0001t0014g0190 a0001c0001t0026g0177 a0001c0001t0049g0235 a0001c0001t0063g0149 a0001c0002t0001g0115 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0001g0197 a0001c0002t0001g0206 a0001c0002t0001g0240 a0001c0002t0004g0199 a0001c0002t0004g0210 a0001c0002t0004g0222 a0001c0002t0006g0226 a0001c0002t0012g0111 a0001c0002t0015g0120 a0001c0002t0015g0184 a0001c0002t0016g0178 a0001c0002t0020g0086 a0001c0002t0020g0175 a0001c0002t0024g0164 a0001c0005t0007g0078 a0001c0006t0001g0193 a0001c0006t0002g0063 a0001c0006t0002g0191 a0001c0006t0002g0195 a0001c0006t0045g0135 a0001c0008t0001g0207 a0001c0008t0001g0221 a0001c0008t0023g0203 a0001c0012t0028g0133 a0001c0033t0001g0048 a0003c0013t0002g0157 a0003c0013t0002g0194	69	242	0.2851	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCGGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAC GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCG GCACACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTG GAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTG CGGCCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01106.hp2 others(34): Show HG00642.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 NA18522.hp1 NA18990.hp2 NA18998.hp2 NA21309.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0024 a0004c0026 a0010c0018	a0001c0001t0035 a0001c0003t0001 a0001c0003t0002 others(22): Show a0001c0001t0035 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0003t0017 a0001c0003t0022 a0001c0003t0027 a0001c0003t0065 a0001c0004t0032 a0001c0004t0059 a0001c0004t0071 a0001c0005t0001 a0001c0005t0007 a0001c0009t0040 a0001c0009t0053 a0001c0010t0003 a0001c0010t0008 a0001c0010t0041 a0001c0024t0001 a0004c0026t0044 a0010c0018t0008	a0001c0001t0035g0090 a0001c0003t0001g0023 a0001c0003t0001g0233 others(34): Show a0001c0001t0035g0090 a0001c0003t0001g0023 a0001c0003t0001g0233 a0001c0003t0002g0144 a0001c0003t0003g0068 a0001c0003t0003g0239 a0001c0003t0004g0017 a0001c0003t0004g0042 a0001c0003t0004g0123 a0001c0003t0005g0004 a0001c0003t0005g0081 a0001c0003t0005g0230 a0001c0003t0007g0124 a0001c0003t0007g0229 a0001c0003t0010g0069 a0001c0003t0010g0070 a0001c0003t0010g0071 a0001c0003t0017g0001 a0001c0003t0022g0040 a0001c0003t0022g0045 a0001c0003t0027g0134 a0001c0003t0065g0038 a0001c0004t0032g0046 a0001c0004t0059g0006 a0001c0004t0071g0022 a0001c0005t0001g0010 a0001c0005t0001g0021 a0001c0005t0007g0032 a0001c0009t0040g0072 a0001c0009t0053g0003 a0001c0010t0003g0034 a0001c0010t0008g0067 a0001c0010t0008g0228 a0001c0010t0041g0066 a0001c0024t0001g0047 a0004c0026t0044g0059 a0010c0018t0008g0168	37	242	0.1529	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAC GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCG GCACACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTG GAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTG CGGCCGCGTTACATGACATTCCATGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00735.hp1 others(13): Show HG00099.hp1 HG00323.hp2 HG00735.hp1 HG01071.hp2 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG02738.hp2 HG03017.hp2 HG03704.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18983.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0001c0027 a0009c0022	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0012 a0001c0002t0043 a0001c0011t0001 a0001c0011t0006 a0001c0011t0025 a0001c0027t0001 a0009c0022t0001	a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0104 others(13): Show a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0150 a0001c0001t0005g0082 a0001c0001t0005g0161 a0001c0001t0008g0174 a0001c0002t0001g0214 a0001c0002t0012g0143 a0001c0002t0043g0089 a0001c0011t0001g0118 a0001c0011t0006g0119 a0001c0011t0025g0050 a0001c0027t0001g0036 a0009c0022t0001g0117	16	242	0.0661	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACATGGAATGTCATGTAACGCGGCC GCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAC GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCG GCACACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTG GAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCTACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCCGGCGTG CGGCCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0051 a0001c0002t0016g0051	1	242	0.0041	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCGGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTAGAATGTCATATAAC GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCG GCACACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTG GAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CTGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTG CGGCCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0051 a0001c0009t0051	a0001c0009t0051g0020 a0001c0009t0051g0020	1	242	0.0041	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAC GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCA GCACACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTG GAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCATGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCCGGCGTG CGGCCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02602.hp2 HG00140.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0136 a0001c0001t0025g0132 a0001c0001t0001g0136 a0001c0001t0025g0132	2	242	0.0083	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCGGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAC GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCG GCACACCGGAATGTCATATAACATGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTG GAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(419): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCTGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGTGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTG CGGCCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0054 a0001c0009t0054	a0001c0009t0054g0122 a0001c0009t0054g0122	1	242	0.0041	426	c.153 others(445): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAC GCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCG GCACACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACG CCAGCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCAC ACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTG GAATGTCATATAACGCAGCCACACGCCGGCACACCGGAATGTCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(419): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGCGTGGAACCAATACATATGTGGAACTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTG GAACATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAA CCAATACATATGTGGACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	323	0.0031	426	c.-32 others(437): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGA ACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGA ACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAC CATACATGTGTGGAACCAATACATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(419): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGTG TGGAACCAATACATATGTGGAACTGTGGAACCAATACATATGTGGACCAT ACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGAACATACATGTGT GGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTG GACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAA CCAATACATATGTGGACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	323	0.0031	426	c.-32 others(437): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAAT ACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACA TGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGAACATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGA ACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAC CATACATGTGTGGAACCAATACATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323368	G G	GAATGTAT others(419): Show GAATGTATATATGGAATGTATATATGGAATGTATATATGTGGAATGTATA TATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGT GGAATGTATATATGTGGAATGTATATGTGGAATGTATATGTGGAATGTAT ATGTGGAATATATATATGTGGAATATATATATGTGGAATATATATATGTG GAATATATATATGTGGAATATATATATGTGGAATATATATATGTGGAATA TATATATGTGGAATATATATATGTGGAATATATATATGTGGAATATATAT ATGTGGAATATATATATGTGGAATATATATATGTGGAATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0017 a0003c0008t0017	a0003c0008t0017g0144 a0003c0008t0017g0144	1	323	0.0031	426	c.-16 others(437): Show c.-1688_-1687insAATGTATATATGGAATGTATATATGGAATGTATA TATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGT GGAATGTATATATGTGGAATGTATATATGTGGAATGTATATGTGGAATGT ATATGTGGAATGTATATGTGGAATATATATATGTGGAATATATATATGTG GAATATATATATGTGGAATATATATATGTGGAATATATATATGTGGAATA TATATATGTGGAATATATATATGTGGAATATATATATGTGGAATATATAT ATGTGGAATATATATATGTGGAATATATATATGTGGAATATATATATGTG GAATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1601		chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(419): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATGTACACACAAGAGGATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATA TATATATATATATATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	232	0.0043	426	c.-67 others(445): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATGTACACACAAGAGG ATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGG ATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATAT CCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(419): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCATTATCACCACCACCATCACCACCATCACCACCACCACCACCA CCATCACCACCATCACCACCATCACCACCACCACCACCATCACCACCATC ACCATCACCACCATCACCATCACCACCATCACCATTACCACCACCATTAC CACCACCATCACCATCACCATCACCACCACCACCACCATCACCATCACCA CCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCACC ATCACCATCACCACCACCATCACCATTATCACCACCACCATCACCACCAT CACCATCACCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19240.hp1 HG02622.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0025 a0002c0001t0026 a0001c0002t0025 a0002c0001t0026	a0001c0002t0025g0101 a0002c0001t0026g0102 a0001c0002t0025g0101 a0002c0001t0026g0102	2	330	0.0061	426	c.691 others(441): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442782	C C	CCATTACC others(419): Show CCATTACCACCACCATCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCACCACCACCACCACCATCACCACCACCACCATCACCACCAT TATCACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCA CCATCACCACCATCACCACCACCACCACCATCACCACCATCACCATCACC ACCATCACCATCACCACCATCACCATTACCACCACCATTACCACCACCAT CACCATCACCATCACCACCACCACCACCATCACCATCACCACCACCATCA CCATTATCACCACCACCATCACCACCATCACCACCACCACCATCACCATC ACCACCACCATCACCATTATCACCACCACCATCACCACCATCACCATCAC CACCATCACCATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0026 a0002c0001t0026	a0002c0001t0026g0103 a0002c0001t0026g0103	1	330	0.0030	426	c.691 others(441): Show c.691-252_691-251insATGGTGATGGTGGTGATGGTGATGGTGGTG ATGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGA TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATG GTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGT GATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45229055	A A	ACACTCAC others(419): Show ACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACC CGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATC CCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCC CGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCACCACCAC TCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAG AGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCAA CCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCG AAAGATCCCTCTCCACCCCCACACCAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0373 a0001c0001t0002g0373	1	398	0.0025	426	c.64+ others(443): Show c.64+11584_64+11585insGTGGTGTGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGT TGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTTGGGGGGTG GAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTC TCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAG TGGTGGTGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGG GGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGG ATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	167997188	G G	GCGGGGGA others(419): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02080.hp1 HG00438.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0205 a0001c0001t0001g0208	2	375	0.0053	426	c.-22 others(437): Show c.-2281_-2280insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		482		chr6	TogoVar
KIF3B_chr20_32272651_32340011	32322878	T T	TTATATTT others(419): Show TTATATTTCTATTTATTTATATATATTTATATTTATTTATATTTATATAT TAATATATATATTTATATTTATATATATTTATATTTATATATATTTATAT TTATATATATTTATATTTATATTTATATATATTTATATTTATATATATTT ATATACATATATTTATATATATATTTATATATATTTATATACATATATTT ATATATATATTTATATATATATTTATATACATATATTTATATATATATTT ATATATATATTTATATACATATATTTATATATATATTTATATATATATTT ATATACATATATTTATATATATATTTATATATATTTATATACATATATTT ATACATATATTTATATATATATTTATATACATATATTTATATATATATTT ATATATATATTTATATACATATATTTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0081 a0001c0003t0010g0082 a0001c0003t0010g0081 a0001c0003t0010g0082	2	242	0.0083	426	c.174 others(445): Show c.1749-3892_1749-3891insATATTTCTATTTATTTATATATATTT ATATTTATTTATATTTATATATTAATATATATATTTATATTTATATATAT TTATATTTATATATATTTATATTTATATATATTTATATTTATATTTATAT ATATTTATATTTATATATATTTATATACATATATTTATATATATATTTAT ATATATTTATATACATATATTTATATATATATTTATATATATATTTATAT ACATATATTTATATATATATTTATATATATATTTATATACATATATTTAT ATATATATTTATATATATATTTATATACATATATTTATATATATATTTAT ATATATTTATATACATATATTTATACATATATTTATATATATATTTATAT ACATATATTTATATATATATTTATATATATATTTATATACATATATTTAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(419): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAGAG GAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGA GAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAG GAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0001 a0018c0011t0001	a0018c0011t0001g0046 a0018c0011t0001g0046	1	316	0.0032	426	c.583 others(441): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC TTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTC CTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCT GACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTC CCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(419): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGAGGAGGGGG AGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAAGAG GAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	316	0.0032	426	c.583 others(441): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CCTCCTCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCC TCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTC CTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCT GACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTC CCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(419): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGAGGAGGAGGAGGAAGAG GAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	316	0.0032	426	c.583 others(441): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCC TCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTC CTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCT GACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTC CCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(419): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAG GAGCAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	316	0.0032	426	c.583 others(441): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTGCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCC TCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTC CTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCT GACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTC CCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(419): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAG GAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01943.hp1 HG02451.hp1 others(22): Show HG01496.hp2 HG01943.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0014 a0001c0001 a0001c0002 a0003c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0003c0014t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(22): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0238 a0001c0002t0001g0028 a0001c0002t0001g0065 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0082 a0001c0002t0001g0089 a0001c0002t0001g0097 a0001c0002t0001g0123 a0001c0002t0001g0173 a0001c0002t0001g0193 a0001c0002t0004g0185 a0003c0014t0001g0122	25	316	0.0791	426	c.583 others(441): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCC TCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTC CTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCT GACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTC CCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(419): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAG GAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGA GAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAG GAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00609.hp2 others(40): Show HG00423.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG01109.hp2 HG01943.hp2 HG01975.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG03225.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp1 HG03831.hp1 HG04184.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18983.hp1 NA18983.hp2 NA19007.hp2 NA19011.hp2 NA19067.hp2 NA19077.hp1 NA19079.hp1 NA19088.hp1 NA19088.hp2 NA21309.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0010 a0001c0001 a0016c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0016c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(31): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0207 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0002g0020 a0001c0001t0007g0039 a0016c0010t0001g0205	43	316	0.1361	426	c.583 others(441): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTC CTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCT GACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTC CCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(419): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGGGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAG GAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0192 a0002c0003t0001g0104 a0001c0001t0001g0192 a0002c0003t0001g0104	2	316	0.0063	426	c.583 others(441): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCC TCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCCCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTC CTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCT GACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTC CCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(419): Show AGAGAGAAAAGAAGAAGATGAAGATGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAG GAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp2 HG02109.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	2	316	0.0063	426	c.583 others(441): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCC TCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTC CTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCT GACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTC CCCTTCCTCCTTCTCCTCCTTCATCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(419): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCAC TCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	426	c.-27 others(437): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(419): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCAC TCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	426	c.-27 others(437): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(419): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTGTATA TATGTATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAA CATATATGTGTATATATGTGTATATATGCAAACATATATGTACATACATA TATACACACATATATATGTACATACATATATACACACATATATATGTACA TACATATATACACACATATATATGTACATACATATATACACACATATATA TGTACATACATATATACACACATATATATGTACATACATATATGCACACA TATATATGTACATACATATATGCACACATATATATGTACATACATATATG CACACATATATATGTACATACATATATGCACACATATATATGTACATACA TATATGCACACATATATATGTACATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0089 a0002c0002t0024g0089	1	116	0.0086	426	c.62+ others(445): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTGTATATATGTATATATATGCAAACATATATGTGTAT ATATGTGTATATATGCAAACATATATGTGTATATATGTGTATATATGCAA ACATATATGTACATACATATATACACACATATATATGTACATACATATAT ACACACATATATATGTACATACATATATACACACATATATATGTACATAC ATATATACACACATATATATGTACATACATATATACACACATATATATGT ACATACATATATGCACACATATATATGTACATACATATATGCACACATAT ATATGTACATACATATATGCACACATATATATGTACATACATATATGCAC ACATATATATGTACATACATATATGCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCCCCCC others(419): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0161	1	246	0.0041	426	c.171 others(443): Show c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCT GACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(419): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0052 a0052	a0052c0052 a0052c0052	a0052c0052t0001 a0052c0052t0001	a0052c0052t0001g0205 a0052c0052t0001g0205	1	246	0.0041	426	c.171 others(443): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(419): Show ATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATGTATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATA TAACTATAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0040 a0040	a0040c0032 a0040c0032	a0040c0032t0001 a0040c0032t0001	a0040c0032t0001g0124 a0040c0032t0001g0124	1	152	0.0066	426	c.342 others(445): Show c.3420-8498_3420-8497insAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATGTATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATATAAATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(419): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATTCATATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	191	0.0052	426	c.343 others(443): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATATGAATATATATGAATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATCTATATATGAATATATATATGAATCTATATAT GAATATATATGAATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(419): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0112 a0007c0112	a0007c0112t0007 a0007c0112t0007	a0007c0112t0007g0010 a0007c0112t0007g0010	1	292	0.0034	426	c.377 others(443): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(419): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02922.hp1 HG03209.hp1 HG01261.hp1 HG02922.hp1 HG03209.hp1	a0005 a0022 a0024 a0005 a0022 a0024	a0005c0028 a0022c0078 a0024c0087 a0005c0028 a0022c0078 a0024c0087	a0005c0028t0010 a0022c0078t0008 a0024c0087t0055 a0005c0028t0010 a0022c0078t0008 a0024c0087t0055	a0005c0028t0010g0259 a0022c0078t0008g0256 a0024c0087t0055g0260 a0005c0028t0010g0259 a0022c0078t0008g0256 a0024c0087t0055g0260	3	292	0.0103	426	c.377 others(443): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(419): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18747.hp2 NA19065.hp2 HG02074.hp2 NA18747.hp2 NA19065.hp2	a0018 a0091 a0101 a0018 a0091 a0101	a0018c0015 a0091c0045 a0101c0050 a0018c0015 a0091c0045 a0101c0050	a0018c0015t0004 a0091c0045t0001 a0101c0050t0001 a0018c0015t0004 a0091c0045t0001 a0101c0050t0001	a0018c0015t0004g0015 a0091c0045t0001g0056 a0101c0050t0001g0035 a0018c0015t0004g0015 a0091c0045t0001g0056 a0101c0050t0001g0035	3	292	0.0103	426	c.377 others(443): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(419): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	390	0.0026	426	c.112 others(443): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513846	T T	TGGGCAGT others(419): Show TGGGCAGTGGGGAGTGAGGATGGGGTCGGCCTGGGCGGTGGGGGAGTGAG GAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGAGAGAGGAGGGGTCGGCGTGGGGCGGTGGGGAGAGA GGAGGGGTCGGCGTGGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCG GTGGGGAGAGAGGAGGGGGTCGGCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	426	c.26 others(437): Show c.2682_*2683insGGGCAGTGGGGAGTGAGGATGGGGTCGGCCTGGG CGGTGGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGAGAGAGGAGGGGTCGGCGTGG GGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGGCGGTGGGGAGAGAGGAG GGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGGTCGGCGTG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2634		chr8	TogoVar

Search by Variant

Search

Search Results