Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ETDB_chrX_135113955_135125526	135115022	T T	TATATAAT others(374): Show TATATAATTATATATGATATATAATTATATATATTACATATCATATATAA TCTTAATATATTATATATTATATTATATATTATTATATATAATATATTAT ATATTACATAACATATATATTATTATAATATATAATATATTATATATTAT ATTATATATAATAATATATTATATATTATATTATATATAATAATATATAA TATGTTATATTATATATTATATTATATATAATAATATGTAATATATAATT ATATTATATACTATTATAATAATTATAATAATATTAATATTATATTATAA TTATAATAGACACATATAATAATAATTATAATTAGCAGATTATTTTATAA TAATATTATATAATATGTATTAATAACATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	312	0.0032	381	c.40 others(392): Show c.4059_*4060insTATATGTTATTAATACATATTATATAATATTATT ATAAAATAATCTGCTAATTATAATTATTATTATATGTGTCTATTATAATT ATAATATAATATTAATATTATTATAATTATTATAATAGTATATAATATAA TTATATATTACATATTATTATATATAATATAATATATAATATAACATATT ATATATTATTATATATAATATAATATATAATATATTATTATATATAATAT AATATATAATATATTATATATTATAATAATATATATGTTATGTAATATAT AATATATTATATATAATAATATATAATATAATATATAATATATTAAGATT ATATATGATATGTAATATATATAATTATATATCATATATAATTATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3932		chrX	TogoVar
FHIT_chr3_59742277_61256452	59986789	T T	TATATAAA others(374): Show TATATAAATATATTTATATAAATATATAAATATATTTATATAAATATATT TATATAAATGTATAAATATAAATATATTTATATAAATGTATAAATATAAA TATATAAATATATTTATATAAATATATAAATATAAATATATTTATATAAA TATATACATATATAAATATAAATATATTTATATAAATATATACATATATA AATATAAATATATTTATATAAATATATAAATATATAATATAAATATATTT ATATAAATATATTTATATAAATATATAAATATAAATATATTTATATAAAT ATATAAATATATAATATAAATATATTTATATAAATATATTTATATAAATA TATAAATATAAATATATTTATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0014 a0002c0004t0005g0014	1	16	0.0625	381	c.279 others(400): Show c.279+24581_279+24582insTATATATTTATATAAATATATTTATA TTTATATATTTATATAAATATATTTATATAAATATATTTATATTATATAT TTATATATTTATATAAATATATTTATATTTATATATTTATATAAATATAT TTATATAAATATATTTATATTATATATTTATATATTTATATAAATATATT TATATTTATATATGTATATATTTATATAAATATATTTATATTTATATATG TATATATTTATATAAATATATTTATATTTATATATTTATATAAATATATT TATATATTTATATTTATACATTTATATAAATATATTTATATTTATACATT TATATAAATATATTTATATAAATATATTTATATATTTATATAAATATATT TATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FLT3_chr13_27998274_28105576	27999041	A A	AAATATAT others(374): Show AAATATATATGTATATACATATATATGTATGTATATTATATACTTATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATTTACATACATATAAATATATATTTACATACATATAAATATATATA TTTATATACATATAATACATATACATATATACATATAAATATATATTTAT ATACATATAAATATATATATTTTATATATATTTATATACATATAAATATA TATATTTTATATATATTTATATACATATAAATATATATATTTTATATATA TTTATATACATATAAATATATATATTTTATATATATTTATATATATAATA TATATTTATATATATATATAAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0164 a0001c0004t0006g0164	1	277	0.0036	381	c.50 others(392): Show c.5010_*5011insAATATATATATTTATATATATATATAAATATATA TTATATATATAAATATATATAAAATATATATATTTATATGTATATAAATA TATATAAAATATATATATTTATATGTATATAAATATATATAAAATATATA TATTTATATGTATATAAATATATATAAAATATATATATTTATATGTATAT AAATATATATTTATATGTATATATGTATATGTATTATATGTATATAAATA TATATATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATAAGTATATAATATACATACATATATATGTATATACATATATATT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4232		chr13	TogoVar
GALR1_chr18_77244848_77282900	77253016	C C	CCACCACC others(374): Show CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0060 a0001c0001t0009g0060	1	349	0.0029	381	c.666 others(398): Show c.666+1810_666+1811insCCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCATCACCATCACCA CCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(374): Show TACACACACACACCACACACATATACACACATACACCCATACACACACAT CATACACACACACACCACACACATACACCACACACACCACACATGCACAC ACACCACACACATATATACGCATACACCCATACACACATCATACACACAC CACACACACCACACATGCACACCACACACATACACGCATACACCCATACA CACACATCATACACACACACACCACACACACCACACACATATACGCATAC ACCCATACACACACATCATACACACACATACACCACACACACCACACACG CACACCACACACATATACACACATACACCCATGCACACACATCATACACA CACAAACCACACATACCACACACATACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02559.hp1 others(8): Show HG02055.hp2 HG02145.hp2 HG02559.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0141 a0001c0002t0001g0056 a0001c0002t0001g0161 others(8): Show a0001c0001t0001g0141 a0001c0002t0001g0056 a0001c0002t0001g0161 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0189 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0208 a0001c0002t0001g0215	11	343	0.0321	381	c.32 others(392): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGT GTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGT GTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGAT GTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249838	T T	TCCTTCCC others(374): Show TCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACC TCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCT TCCCCTCATTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCT CCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCC CCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCT GTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCC CCCTCCCCTCCTTCCCCCTTCCCCCCCCCTCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0075 a0001c0001t0012g0075	1	286	0.0035	381	c.972 others(396): Show c.972+262_972+263insCCTTCCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTT CCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTC CTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCTC C	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11			chr5	TogoVar
GPR157_chr1_9095305_9134102	9116190	A A	AATATAAT others(374): Show AATATAATTATATATATTATATATATAATATAATTATATATATTATATAT ATAATATAATTATATATATTATATATATAATATAATTATATATATTATAT ATATAATATAATTATATATATTATATATATAATATAATTATATATATTAT ATATATAATATAATTATATATATTTATATTATATATATTATATATAATAT AATTATATATATTTATATTATATATATATTATATTATATATAATTATATA TAATTATATATATATTATATTATATATAATTATATATAATTATATTATAT ATATTATATGTAATATAATTATATATATTTATATTATATATTATATATAA TATAATTATATATATAATTATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0067 a0001c0001t0020g0067	1	396	0.0025	381	c.384 others(398): Show c.384-4702_384-4701insATATATATATTATAATTATATATATAAT TATATTATATATAATATATAATATAAATATATATAATTATATTACATATA ATATATATAATATAATTATATATAATTATATATAATATAATATATATATA ATTATATATAATTATATATAATATAATATATATATAATATAAATATATAT AATTATATTATATATAATATATATAATATAAATATATATAATTATATTAT ATATATAATATATATAATTATATTATATATATAATATATATAATTATATT ATATATATAATATATATAATTATATTATATATATAATATATATAATTATA TTATATATATAATATATATAATTATATTATATATATAATATATATAATTA TAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
HCN2_chr19_584881_622159	602200	C C	CCTCCTGC others(374): Show CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTTCCTCCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	402	0.0025	381	c.633 others(398): Show c.633-1290_633-1289insTCCTCCTCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPCAL1_chr2_10297904_10432604	10399426	A A	ACCACCAC others(374): Show ACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCATCAC CATCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCATCAC CACCACCATCATCACCACCATCACCACCACCATCATCACCACCATCATCA CCACCATCACCACCACCATCACCACCACCATCATCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCATCATCACCACCATCACCACCAC CACCATCGCCGCCACCACCACCACCATCGCCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	285	0.0035	381	c.-25 others(398): Show c.-25+2515_-25+2516insTCACCACCACCACCACCACCATCACCAC CACCACCATCACCATCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCATCA CCACCATCATCACCACCATCACCACCACCATCACCACCACCATCATCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCATCATCACCAC CATCACCACCACCACCATCGCCGCCACCACCACCACCATCGCCGCCACCA CCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(374): Show AATATATATATGATATATATATGAAATATATATATGATATATATGAAATA TATATATCATATATATATGAAATATATATATCATATATATATGAAATATA TATATCATATATATATGAAATATATATATCATATATATATGAAATATATA TATCATATATATATGAAATATATATATCATATATATATGAAATATATATA TCATATATATATGAAATATATATATCATATATATATGAAATATATATATC ATATATATATGAAATATATATATCATATATATATGAAATATATATATGAT ATATGAAATATATATGATATATGAAATATATATATGATATATGAAATATA TATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	54	0.0185	381	c.25- others(396): Show c.25-1970_25-1969insATGATATATATATGAAATATATATATGATA TATATGAAATATATATATCATATATATATGAAATATATATATCATATATA TATGAAATATATATATCATATATATATGAAATATATATATCATATATATA TGAAATATATATATCATATATATATGAAATATATATATCATATATATATG AAATATATATATCATATATATATGAAATATATATATCATATATATATGAA ATATATATATCATATATATATGAAATATATATATCATATATATATGAAAT ATATATATGATATATGAAATATATATGATATATGAAATATATATATGATA TATGAAATATATATATGATATATATATGAAATATATATATGATATATATA T	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546507	C C	CCTTTCCT others(374): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	420	0.0024	381	c.-85 others(390): Show c.-859_-858insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		611		chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(374): Show ATAATGGTTATAGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTAGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGATGGTGATCATGGTGACGATCAT GATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGG TGGTGGTGGTAGTGGCGATGGTGACGATGATGGTGATCATGGTGATGATC ATGATGGTGGTGGTCATGGTGATGGTGGTGATGATAATAGTGGTGATGAT GCTGGTGGTAGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0008 a0002c0025t0008	a0002c0025t0008g0033 a0002c0025t0008g0033	1	90	0.0111	381	c.222 others(400): Show c.2220+1019_2220+1020insAATGGTTATAGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTAGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGA TGGTGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGCAATGATCATGATGGTGGTGGTGGTAGTGGCGATGGTGACGAT GATGGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGG TGATGATAATAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATG ATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNQ2_chr20_63395208_63477655	63442656	C C	CCATCACC others(374): Show CCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACC ATCACCACCATCACCATCACCACCATCACCATCACCACCATCACCATTAC CACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCATCAC CACCACCACCACCATCACCACCATCACCATCACCACCATCACCATCACCA CCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACC ACCACCACCACCATCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0020 a0002c0001t0002g0020	1	276	0.0036	381	c.691 others(396): Show c.691-126_691-125insATGGTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGAT GGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGG TGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGAT G	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45229067	A A	AAGATCCC others(374): Show AAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCT CTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCACC ACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGA AAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCA CCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCAC TCACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAA AGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTC TCCACCCCCCAACCACCAAACACTCACCCGAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	320	0.0031	381	c.64+ others(398): Show c.64+11572_64+11573insCTCGGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGG GGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGA TCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAG TGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGT GGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGA TCT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(374): Show TACACACACACACCACACACATATACACACATACACCCATACACACACAT CATACACACACACACCACACACATACACCACACACACCACACATGCACAC ACACCACACACATATATACGCATACACCCATACACACATCATACACACAC CACACACACCACACATGCACACCACACACATACACGCATACACCCATACA CACACATCATACACACACACACCACACACACCACACACATATACGCATAC ACCCATACACACACATCATACACACACATACACCACACACACCACACACG CACACCACACACATATACACACATACACCCATGCACACACATCATACACA CACAAACCACACATACCACACACATACACCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02559.hp2 others(8): Show HG02055.hp2 HG02145.hp1 HG02559.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0006 a0002c0002t0006 a0002c0002t0007 others(3): Show a0001c0001t0006 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0021 a0004c0004t0006	a0001c0001t0006g0061 a0001c0001t0006g0084 a0001c0001t0006g0088 others(7): Show a0001c0001t0006g0061 a0001c0001t0006g0084 a0001c0001t0006g0088 a0002c0002t0006g0086 a0002c0002t0006g0091 a0002c0002t0007g0041 a0002c0002t0008g0089 a0002c0002t0008g0090 a0002c0002t0021g0094 a0004c0004t0006g0087	11	334	0.0329	381	c.-39 others(398): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATG TGTGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTG TGTGGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTG GTGTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTG TATGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGTGTG TGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(374): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCC CTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03491.hp2 HG03492.hp1 others(3): Show HG02622.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG04115.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0042 a0002c0002t0001g0006 a0002c0002t0001g0042	6	82	0.0732	381	c.-27 others(392): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(374): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCC CTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG06807.hp2 HG01167.hp2 HG01169.hp1 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0011 a0003c0003t0008g0034 a0003c0003t0008g0035 a0003c0003t0008g0011 a0003c0003t0008g0034 a0003c0003t0008g0035	3	79	0.0380	381	c.-27 others(392): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(374): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCC CTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	77	0.0130	381	c.-27 others(392): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(374): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGCTGGGGGT GATGACGGTAGGGGTGATGACGGTGATGATGGGGGTGGGGGGGTGATGAC GGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGA TGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGGTG GGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGAT GGTGGGGGTGGGGGTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0053 a0053	a0053c0066 a0053c0066	a0053c0066t0001 a0053c0066t0001	a0053c0066t0001g0016 a0053c0066t0001g0016	1	31	0.0323	381	c.956 others(398): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCCC CACCATCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCCCCA CCCCCACCATCACCCCCACCATCATCACCCTCACCCCCACCCCCACCCCC ACCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACAT CACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCTACCGT CATCACCCCCAGCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCATCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCCCC ACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349805	T T	TGGTGGGG others(374): Show TGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGATGGTAGAGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGG GGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATG ATGGTGGGGGTGATGGTGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0111 a0013c0019t0001g0111	1	136	0.0074	381	c.956 others(398): Show c.956+1898_956+1899insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCC ACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124610504	C C	CGGAGCGG others(374): Show CGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTG CGGGTGCAGGTGAGGGTGCTGATGGAGTGGGTGCGGGTGAGGGTGAGGGT GCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGC GGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTG AGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCG GGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGA GGGTGAGGGTGCTGATGGAGCGGGCGAGGATGAGGGTGAGGGTGCTGATG GAGCGGGTGAGGGTGCGGGTGAGGGTGCTGAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	219	0.0046	381	c.717 others(398): Show c.717-2729_717-2728insGTGGAGCGGGTGCGGGTGCGGGTGCAGG TGAGGGTGCTGATGGAGTGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAG CGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGT GCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGA TGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTG CGGGTGCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGT GCTGATGGAGCGGGCGAGGATGAGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(374): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATATAATAATATATAATTATATATTATATATAATATA TAATTATATATTATATAATAATATATAATTATTAATATATAATTATATAT AATATATAATTATATATTATATAATAATATATAATTATATATTATATATA ATTATATATTATATAATAACATATAATTATATATAATATATAAATATATA ATATATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	57	0.0175	381	c.622 others(396): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATATAATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATTAATATATAATTATATATA ATATATAATTATATATTATATAATAATATATAATTATATATTATATATAA TTATATATTATATAATAACATATAATTATATATAATATATAAATATATAA TATATAAATATATAATATATAAATATATATAATATATAATTATATATAAT A	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LUC7L_chr16_183990_234449	187002	G G	GGGAGGAA others(374): Show GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGAGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAG GAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	331	0.0030	381	c.21 others(392): Show c.2195_*2196insGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCT CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1987		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1871196	T T	TGCTGAAC others(374): Show TGCTGAACCCACCGTAACACCTGCCACGCTGAACCCAACATATGCCTGCC ACGCTGAACCCAACATAAGCCTGCCACGCTGAACCCATTGTAACACCTGC CACACTGAACCCAACATACGCCTGCCACGCTGAACCCACCGTAACACCTG CCACGCTGAACCCAACATATGTCTGCCACGCTGAACCCACCGTAACACCT GCCACGCTGAACCCAACATACGCCTGCCAAGCTGAACCCACCGTAACACC TGCCACGCTGAACCCAACATATGCCTGCCACGCTGAACCCAACATACACC TGCCACACTGAACCCAACATAAGCCTGCCACGCTGAACCGACCATAACAC CTGCCACGCTGAACCCAACATACGCCTGCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp2 HG01255.hp2 others(11): Show HG00438.hp2 HG01074.hp2 HG01255.hp2 HG01515.hp2 HG02145.hp1 HG02818.hp2 HG02976.hp1 HG03516.hp1 HG04228.hp1 NA18942.hp2 NA18963.hp1 NA18969.hp2 NA18990.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0003t0001 a0001c0007t0004 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0004 a0004c0008t0001	a0001c0001t0001g0169 a0001c0001t0001g0195 a0001c0001t0001g0208 others(11): Show a0001c0001t0001g0169 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0003t0001g0016 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0075 a0001c0003t0001g0089 a0001c0007t0004g0078 a0001c0007t0004g0080 a0004c0008t0001g0194	14	261	0.0536	381	c.199 others(402): Show c.1998+27003_1998+27004insGTGGCAGGCGTATGTTGGGTTCAG CGTGGCAGGTGTTATGGTCGGTTCAGCGTGGCAGGCTTATGTTGGGTTCA GTGTGGCAGGTGTATGTTGGGTTCAGCGTGGCAGGCATATGTTGGGTTCA GCGTGGCAGGTGTTACGGTGGGTTCAGCTTGGCAGGCGTATGTTGGGTTC AGCGTGGCAGGTGTTACGGTGGGTTCAGCGTGGCAGACATATGTTGGGTT CAGCGTGGCAGGTGTTACGGTGGGTTCAGCGTGGCAGGCGTATGTTGGGT TCAGTGTGGCAGGTGTTACAATGGGTTCAGCGTGGCAGGCTTATGTTGGG TTCAGCGTGGCAGGCATATGTTGGGTTCAGCGTGGCAGGTGTTACGGTGG GTTCAGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1871409	C C	CAACATAC others(374): Show CAACATACGCCTGCCAAGCTGAACCCACCGTAACACCTGCCACGCTGAAC CCAACATATGCCTGCCACGCTGAACCCAACATACACCTGCCACACTGAAC CCAACATAAGCCTGCCACGCTGAACCGACCATAACACCTGCCACGCTGAA CCCAACATACGCCTGCCACGCTGAACCCACCGTAACACCTGCCACGCTGA ACCCAACATATGCCTGCCACGCTGAACCCAACATAAGCCTGCCACGCTGA ACCCATTGTAACACCTGCCACACTGAACCCAACATACGCCTGCCACGCTG AACCCACCGTAACACCTGCCACGCTGAACCCAACATATGTCTGCCACGCT GAACCCACCGTAACACCTGCCACGCTGAACCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02698.hp2 NA18940.hp2 others(5): Show HG00558.hp2 HG02698.hp2 NA18940.hp2 NA18944.hp1 NA18981.hp1 NA18985.hp2 NA19012.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0196 others(5): Show a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0230 a0002c0005t0001g0090	8	262	0.0305	381	c.199 others(402): Show c.1998+26790_1998+26791insAGGTTCAGCGTGGCAGGTGTTACG GTGGGTTCAGCGTGGCAGACATATGTTGGGTTCAGCGTGGCAGGTGTTAC GGTGGGTTCAGCGTGGCAGGCGTATGTTGGGTTCAGTGTGGCAGGTGTTA CAATGGGTTCAGCGTGGCAGGCTTATGTTGGGTTCAGCGTGGCAGGCATA TGTTGGGTTCAGCGTGGCAGGTGTTACGGTGGGTTCAGCGTGGCAGGCGT ATGTTGGGTTCAGCGTGGCAGGTGTTATGGTCGGTTCAGCGTGGCAGGCT TATGTTGGGTTCAGTGTGGCAGGTGTATGTTGGGTTCAGCGTGGCAGGCA TATGTTGGGTTCAGCGTGGCAGGTGTTACGGTGGGTTCAGCTTGGCAGGC GTATGTT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(374): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTC GCCCCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATC CCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCATCCCCCACTGCC ACGTCCCCTCATCCCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTA CTGCCACATCCCACCACCACGTCCACACTGCCATGTCCCCTCGCCCCATC CCCCTGCCACGTCCGCTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	10	0.1000	381	c.180 others(400): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGATGAGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGTGGACGTGG TGGTGGGATGTGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(374): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGAAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAG GGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGG GAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGGGAGAGGAAGGGA GAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp1 HG01123.hp2 HG00140.hp2 HG01071.hp1 HG01123.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0101 a0002c0002t0001g0036 a0002c0002t0001g0039 a0001c0001t0001g0101 a0002c0002t0001g0036 a0002c0002t0001g0039	3	18	0.1667	381	c.313 others(402): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCTTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCCCCTG TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTC CCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCCTGCCCTCTACCC TCCCCTTTCCCCTTCCCTGTCCCCTCCCCTCTCTCCTCCCCCGTCCCCTC CCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(374): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAC AGGGGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGG GAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG03041.hp1 others(8): Show HG02486.hp2 HG02572.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp2 HG03942.hp2 NA18906.hp1 NA18906.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0005c0006t0001	a0001c0001t0001g0056 a0001c0001t0001g0091 a0001c0001t0001g0093 others(8): Show a0001c0001t0001g0056 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0002g0019 a0001c0001t0006g0006 a0001c0001t0008g0010 a0001c0001t0009g0007 a0003c0003t0001g0099 a0003c0003t0002g0008 a0004c0004t0001g0090 a0005c0006t0001g0100	11	26	0.4231	381	c.313 others(402): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC TTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCT CCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTG TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTC CCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCCTGCCCTCTACCC TCCCCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTCCTCCCCCGTCCCCTC CCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855633	G G	GACGGGGG others(374): Show GACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGGAAAGGGGAGGGTA GAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGAGGGGAGGGGAGAG GGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGG GAGGGGACAGGGGAGGGGAGGGGAAAGGGGAGGGGACAGGGGAGGGGAGG GGAGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGG AGAGGGGAGGGGAGAGGGGAGAGGGGAGAGGAAGGGAGAGGGGAGGGGAG AGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAG GGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	89	0.0112	381	c.313 others(402): Show c.313+182362_313+182363insACCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCC CCTCCCCTCTCCCCTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTTTCCCCTCCCCTCCCCT GTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCT CCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTC CTGCCCTCTACCCTCCCCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTCCT CCCCCGT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(374): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATATAAA TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT ATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAA ATATATAACTATAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG01071.hp2 others(1): Show HG00544.hp2 HG00558.hp1 HG01071.hp2 HG03669.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0074	a0001c0009 a0003c0024 a0007c0058 others(1): Show a0001c0009 a0003c0024 a0007c0058 a0074c0030	a0001c0009t0001 a0003c0024t0001 a0007c0058t0001 others(1): Show a0001c0009t0001 a0003c0024t0001 a0007c0058t0001 a0074c0030t0001	a0001c0009t0001g0031 a0003c0024t0001g0095 a0007c0058t0001g0111 others(1): Show a0001c0009t0001g0031 a0003c0024t0001g0095 a0007c0058t0001g0111 a0074c0030t0001g0125	4	11	0.3636	381	c.342 others(400): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AAATATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATA TAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAA TATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(374): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT ATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAA ATATATAACTATAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0007 a0007	a0007c0059 a0007c0059	a0007c0059t0001 a0007c0059t0001	a0007c0059t0001g0041 a0007c0059t0001g0041	1	8	0.1250	381	c.342 others(400): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATA TAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAA TATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBP_chr18_76973833_77137783	77117923	T T	TCAGTGGG others(374): Show TCAGTGGGTTGGAGTGGGATGGGTTGGGGTGGGACGGGGGACATTGGGTT GGGGTGGGACGGGGGTCAGTGGGTTGGGGCGGGATGGGGGTCAGTGGGTT GGAGTGGGATGGGGGTCAGTGGGTTGGAGCGGGATGGGGACAGTGGGTTG GGGCGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGG GCGGGATGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGG CGGGATGGGGACAGTGGGTTGGGGCGGGACGGGGACAGTGGGTTGGGGCG GGACGGGGACAGGGGGTTGGGGCGGGATGGGGGACAGTGGGTTGGGGCGG GATGGGGACAGTGGGTTGGGGCGGGATGGGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	325	0.0031	381	c.-25 others(400): Show c.-25-12638_-25-12637insTCCCCATCCCGCCCCAACCCACTGTC CCCATCCCGCCCCAACCCACTGTCCCCCATCCCGCCCCAACCCCCTGTCC CCGTCCCGCCCCAACCCACTGTCCCCGTCCCGCCCCAACCCACTGTCCCC ATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCA TCCCGCCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATC CCGCCCCAACCCACTGTCCCCATCCCGCTCCAACCCACTGACCCCCATCC CACTCCAACCCACTGACCCCCATCCCGCCCCAACCCACTGACCCCCGTCC CACCCCAACCCAATGTCCCCCGTCCCACCCCAACCCATCCCACTCCAACC CACTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77117923	T T	TCAGTGGG others(374): Show TCAGTGGGTTGGAGTGGGATGGGTTGGGGTGGGACGGGGGACATTGGGTT GGGGTGGGACGGGGGTCAGTGGGTTGGGGCGGGATGGGGGTCAGTGGGTT GGAGTGGGATGGGGGTCAGTGGGTTGGAGCGGGATGGGGACAGTGGGTTG GGGCGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGG GCGGGATGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGG CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGACGGGGACAGGGGGTTGGGGCGGGATGGGGGACAGTGGGTTGGGGCGG GATGGGGACAGTGGGTTGGGGCGGGATGGGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG01074.hp1 others(27): Show HG00639.hp1 HG00673.hp2 HG01074.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02040.hp1 HG02080.hp2 HG02273.hp1 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18948.hp1 NA18960.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18990.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0007 a0001c0001 a0001c0002 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0007 a0001c0002t0021 a0005c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0128 a0001c0001t0001g0182 others(27): Show a0001c0001t0001g0026 a0001c0001t0001g0128 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0003g0127 a0001c0001t0003g0180 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0004g0179 a0001c0001t0006g0324 a0001c0001t0007g0380 a0001c0001t0008g0377 a0001c0002t0001g0099 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0191 a0001c0002t0007g0351 a0001c0002t0007g0369 a0001c0002t0007g0371 a0001c0002t0021g0305 a0005c0007t0001g0177	30	354	0.0847	381	c.-25 others(400): Show c.-25-12638_-25-12637insTCCCCATCCCGCCCCAACCCACTGTC CCCATCCCGCCCCAACCCACTGTCCCCCATCCCGCCCCAACCCCCTGTCC CCGTCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCC ATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCA TCCCGCCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATC CCGCCCCAACCCACTGTCCCCATCCCGCTCCAACCCACTGACCCCCATCC CACTCCAACCCACTGACCCCCATCCCGCCCCAACCCACTGACCCCCGTCC CACCCCAACCCAATGTCCCCCGTCCCACCCCAACCCATCCCACTCCAACC CACTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(374): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCCGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	32	0.0313	381	c.218 others(396): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGG GGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGG AGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAG G	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(374): Show ACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACCCCGC CCCACACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACACAC ACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACACC CCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGT GGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACAC ACACACCCCCCCACACACACACCCCGCCCCACACACACCCCCCGCCCCAC ACACACACACCCCCCCACACACACACCCCGCCCCACACACACACACCCCG CCCCACACACACACACCCCGCCCCACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0274 a0003c0006t0009g0274	1	259	0.0039	381	c.557 others(398): Show c.557-2656_557-2655insCGCCCCACACACACACACCCCGCCCCAC ACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACA CCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGC CCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAG CCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACA CCCCCCCACACACACACCCCGCCCCACACACACCCCCCGCCCCACACACA CACACCCCCCCACACACACACCCCGCCCCACACACACACACCCCGCCCCA CACACACACACCCCGCCCCACACACACCCCCCGCCCCACACACACACACC CCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MLPH_chr2_237482251_237560322	237543630	G G	GGGCACAG others(374): Show GGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAG TGGAGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGAGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	253	0.0040	381	c.153 others(398): Show c.1539+973_1539+974insCACAGTGGTGAGTGGGGACAGTGGTGAG TGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAG TGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43496928	G G	GAGGTAGT others(374): Show GAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGT AGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGGTGG TGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTG GTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGA GGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTGTTGGTGGAGATGGTGG TGGTGGAGATAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAG GTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGAT GGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0079 a0001c0002t0003g0079	1	104	0.0096	381	c.633 others(398): Show c.633-1307_633-1306insAGGTAGTGGTGGTGGAGATGGTGGTGGT GGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGG TGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTG GTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGT GGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGA TGGTGTTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGGTGATG GTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGA GATGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGG TGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500173	A A	AGGTGGCA others(374): Show AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATG GTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGAT GGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGAGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGGGGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp1 NA18906.hp2 HG02451.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0014 a0001c0004t0005 a0001c0004t0014	a0001c0004t0005g0168 a0001c0004t0014g0197 a0001c0004t0014g0232 a0001c0004t0005g0168 a0001c0004t0014g0197 a0001c0004t0014g0232	3	228	0.0132	381	c.748 others(398): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGT GGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGG TGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSH4_chr1_75791882_75918242	75885664	T T	TATATTAT others(374): Show TATATTATTATTTATTATATATTATAATATATTATATATTATATATTATA ATATATATACCTGATATATTTAAGGTATTATATATAATACCTTATATATT ATATATATAATACCTTATAAGGTATTATATATAATATTATATATAAAATA TATATTATATATTATATATAATATATATTATATATAATATAAATGTATAT ATTATATATAATATATAAATGTATATATTATACATTATACATATATATTA TATACATATATTATATATAATATATATTTTATATATTATATATGTATATA TGTAATATATATAACCTTCACATTTATTTCAGTTATATAATGTGAAGGTA ATATATATATGTTATTTTGTGTATATATAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp2 HG02615.hp2 others(4): Show HG01255.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG03041.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0021 a0001c0004t0003g0022 a0001c0004t0003g0150 others(4): Show a0001c0004t0003g0021 a0001c0004t0003g0022 a0001c0004t0003g0150 a0001c0004t0003g0151 a0001c0004t0003g0152 a0001c0004t0003g0153 a0001c0004t0003g0154	7	212	0.0330	381	c.210 others(400): Show c.2107+1843_2107+1844insATATTATTATTTATTATATATTATAA TATATTATATATTATATATTATAATATATATACCTGATATATTTAAGGTA TTATATATAATACCTTATATATTATATATATAATACCTTATAAGGTATTA TATATAATATTATATATAAAATATATATTATATATTATATATAATATATA TTATATATAATATAAATGTATATATTATATATAATATATAAATGTATATA TTATACATTATACATATATATTATATACATATATTATATATAATATATAT TTTATATATTATATATGTATATATGTAATATATATAACCTTCACATTTAT TTCAGTTATATAATGTGAAGGTAATATATATATGTTATTTTGTGTATATA TAAAG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75885664	T T	TATATTAT others(374): Show TATATTATTATTTATTATATATTATAATATATTATATATTATATATTATA ATATATATACCTGATATATTTAAGGTATTATATATAATACCTTATATATT ATATATATAATACCTTATAAGGTATTATATATAATATTATATATAAAATA TATATTATATATTATATATAATATATATTATATATAATATAAATGTATAT ATTATATATAATATATAAATGTATATATTATATATTATACATATATATTA TATACATATATTATATATAATATATATTTTATATATTATATATGTATATA TGTAATATATATAACCTTCACATTTATTTCAGTTATATAATGTGAAGGTA ATATATATATGTTATTTTGTGTATATATAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00733.hp2 others(36): Show HG00323.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01517.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02109.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG03195.hp1 HG03471.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA19030.hp1 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0010t0001	a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0016 others(36): Show a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0060 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0002g0054 a0001c0004t0002g0055 a0001c0004t0002g0059 a0001c0004t0002g0061 a0001c0004t0002g0063 a0001c0004t0002g0066 a0001c0004t0002g0079 a0001c0004t0007g0048 a0001c0010t0001g0051	39	244	0.1598	381	c.210 others(400): Show c.2107+1843_2107+1844insATATTATTATTTATTATATATTATAA TATATTATATATTATATATTATAATATATATACCTGATATATTTAAGGTA TTATATATAATACCTTATATATTATATATATAATACCTTATAAGGTATTA TATATAATATTATATATAAAATATATATTATATATTATATATAATATATA TTATATATAATATAAATGTATATATTATATATAATATATAAATGTATATA TTATATATTATACATATATATTATATACATATATTATATATAATATATAT TTTATATATTATATATGTATATATGTAATATATATAACCTTCACATTTAT TTCAGTTATATAATGTGAAGGTAATATATATATGTTATTTTGTGTATATA TAAAG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGC others(374): Show AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTG GAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGC ACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGG GGGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGG GGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGG GGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAG GAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTG GAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	357	0.0028	381	c.159 others(398): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGG AGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCG TGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGT GTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCG TGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGG CGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGG GCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGG AGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
NCAPG2_chr7_158626169_158709804	158668210	C C	CCCTCCCT others(374): Show CCCTCCCTTACCCACAACTGGGTCCCTTCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACAACTGGGTCCCTCCGCCCGCCTTACCCACAACTGGGTCCCTTCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC CTTACCCACAACTGGGTCCCTTCGCCCGCCTTACCCACAACTGGGTCCCT TCGCCCTCCTTACCCACTACTGGGTCCCTCCG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0187 a0001c0004t0001g0187	1	300	0.0033	381	c.147 others(400): Show c.1479+3303_1479+3304insCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGAAGGGACCCAGTTGTGGGTAAGGCGGGCGAAGGGACCCAGTTGTG GGTAAGGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGAAGGGACCCAGTTGTGGGTAAGGCGGGCGGAGGGACCCAG TTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGAAGGGACCCAGTTGTGGGTAAG GGAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFA3_chr19_54097855_54112568	54109835	C C	CTCCACCC others(374): Show CTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCA GCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTCCACC CGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	421	0.0024	381	c.29 others(392): Show c.2933_*2934insTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGC TCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2268		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109835	C C	CTCCACCC others(374): Show CTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCA GCCCTCTCCACCTGGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTCCACC CGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02615.hp1 others(10): Show HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp1 NA18906.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0047	13	433	0.0300	381	c.29 others(392): Show c.2933_*2934insTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCTCTCCACCTGGCCCTCCCTCAGTCCCAGTGC TCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2268		chr19	TogoVar
NEU4_chr2_241804193_241822413	241806728	C C	CCCCCTCA others(374): Show CCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCT CAACCCAGGGACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0072 a0001c0004t0001g0072	1	314	0.0032	381	c.-25 others(392): Show c.-2550_-2549insCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2464		chr2	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(374): Show AAAAAAAAAAAAAAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0137 a0002c0006t0005g0137	1	35	0.0286	381	c.-10 others(402): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTTTTTT TTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NXN_chr17_794310_984776	952769	A A	AGAGACCA others(374): Show AGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACA CTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0057 a0001c0001t0003g0061	2	234	0.0085	381	c.360 others(400): Show c.360+26549_360+26550insACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237775	A A	ATATAGTA others(374): Show ATATAGTATATATTTTATAGTATATATAGTATATATACTATATAGTATAT ATTTTATAGTATATATAGTATATATACTATATAGTATATATTTTATAGTA TATATAGTATATATACTATATAGTATATATTTTATTGTATATATAGTATA TATACTATATAGTATATATTTTATAGTATATATAGTATATATACTATATA GTATATATTTTATAGTATATATAGTATATATACTATATAGTATATATTTT ATAGTATATATACTATAAAGTACATAATTTATATATTATATATAATACAT AATATATATTTATATATTATATTAAATATATATTATATATTATATATAAT ATAGAATATATTATATATAATATAGAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA19030.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	279	0.0072	381	c.-15 others(392): Show c.-1568_-1567insTATAGTATATATTTTATAGTATATATAGTATATA TACTATATAGTATATATTTTATAGTATATATAGTATATATACTATATAGT ATATATTTTATAGTATATATAGTATATATACTATATAGTATATATTTTAT TGTATATATAGTATATATACTATATAGTATATATTTTATAGTATATATAG TATATATACTATATAGTATATATTTTATAGTATATATAGTATATATACTA TATAGTATATATTTTATAGTATATATACTATAAAGTACATAATTTATATA TTATATATAATACATAATATATATTTATATATTATATTAAATATATATTA TATATTATATATAATATAGAATATATTATATATAATATAGAATATAT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1510		chr14	TogoVar
OR1B1_chr9_122623125_122662627	122657277	T T	TAAATCTT others(374): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCACATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03516.hp1 HG02630.hp2 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0004 a0001c0001t0001 a0005c0007t0004	a0001c0001t0001g0254 a0005c0007t0004g0253 a0001c0001t0001g0254 a0005c0007t0004g0253	2	376	0.0053	381	c.-43 others(398): Show c.-438+254_-438+255insTTTTTTTTTTTTTTTATAATTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCA ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGTGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGTGGTAAAGA TTT	OR1B1	ENSG00000280094.3	transcript	ENST00000623530.2	protein_coding	1/1			chr9	TogoVar
OR1B1_chr9_122623125_122662627	122657277	T T	TAAATCTT others(374): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGGG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0255 a0003c0003t0003g0255	1	375	0.0027	381	c.-43 others(398): Show c.-438+254_-438+255insTTTTTTTTTTTTTTTATAATTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCA ACCCCCCCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGTGGTAAAGA TTT	OR1B1	ENSG00000280094.3	transcript	ENST00000623530.2	protein_coding	1/1			chr9	TogoVar

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