Joint Open Genome and Omics Platform (JoGo)

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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
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(611): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCCAT CCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCT TCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGC TCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	229	0.0044	618	c.411 others(635): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(611): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC TTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	12	0.0833	618	c.-45 others(639): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(611): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCC TTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	1	8	0.1250	618	c.69 others(629): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTC CTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CKLF_chr16_66547576_66571068	66571016	C C	CCTTATAG others(611): Show CCTTATAGAACATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCC AATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTG ATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTAT GAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGA GAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCA TCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTT CTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTG CTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAG CAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGG GTCAAATGGTATTTCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	390	0.0026	618	c.50 others(629): Show c.5005_*5006insCTTATAGAACATTTTTCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCAC AGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGT TCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTT GCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACA AAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTA TATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTT GGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTG CATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAG TAATGGGATGGCTGGGTCAAATGGTATTTCTAGA	CKLF	ENSG00000217555.13	transcript	ENST00000264001.9	protein_coding		4949		chr16	TogoVar
CMTM1_chr16_66561439_66584135	66571016	C C	CCTTATAG others(611): Show CCTTATAGAACATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCC AATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTG ATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTAT GAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGA GAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCA TCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTT CTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTG CTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAG CAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGG GTCAAATGGTATTTCTAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	396	0.0025	618	c.591 others(633): Show c.591+940_591+941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCC CAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGT GATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTA TGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTG AGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTC ATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATA GCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTG GGTCAAATGGTATTTCTAGACTTATAGAACATTTTTCT	CMTM1	ENSG00000089505.18	transcript	ENST00000379500.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(611): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAATTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATTTATATATAATTTTATATATAAATATATATAATTATATAT ATTTGTATAAATATAATTTTATATATAAATATATATAATTTTATATATAT ATAATTATATATAAATATATATAATTATATATAATATATATAATTTTATA TATAATATATATAATTTTATATATAATATATATAATTTTATATATTATAT ATAAATATATATATAATTTATATATAAATATATATAATTTATATATATTT ATATATAATTATATATAAATATATATAATTATATATAAATATATATAATT ATATATATTTATTTATATAAATTTTATATATTTATATAAATAAATATATA TTTATATATAAAAATTTATATACAAATATATATATAAATATATACAAATA TATATAAATTTATATAAAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0013 a0001c0002t0012g0013	1	42	0.0238	618	c.56- others(635): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAATTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATTTATATATAATTTTATATA TAAATATATATAATTATATATATTTGTATAAATATAATTTTATATATAAA TATATATAATTTTATATATATATAATTATATATAAATATATATAATTATA TATAATATATATAATTTTATATATAATATATATAATTTTATATATAATAT ATATAATTTTATATATTATATATAAATATATATATAATTTATATATAAAT ATATATAATTTATATATATTTATATATAATTATATATAAATATATATAAT TATATATAAATATATATAATTATATATATTTATTTATATAAATTTTATAT ATTTATATAAATAAATATATATTTATATATAAAAATTTATATACAAATAT ATATATAAATATATACAAATATATATAAATTTATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(611): Show AATAAATATATATAAATATATAAATATAAATATATATATAAATATGTAAT TCTAAATATATATGTAAATATATATAAATATATATATATTTATAAATATA TAAATATATATATTTATAAATATATAAATATATATATATTTATAAATATA TAAATATATATAAAAATATATATAAATATATAAAAAAATATAAATATATA TAAATATATAAATATATGTAAATATATATAAATATATATATAAATATATA TATAAATATATATATAAATATATATATATAAATATATATAAATATATAAC TATATAAATAAATATATATAAATATATAAATATATAAAAATATATATAAA TATATATGTAAATATATAAATATATATAAATATATATAAATATATATAAG TATATAAATATATATAAATATATATAAGTATATAAATATATATATAAATA TATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATATA TATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATA TATAAATATATATAAATATATATAAGTATATATAAATATATAAAAATATA TATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03471.hp2 NA19043.hp1 HG02615.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0025 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0011g0025 a0001c0001t0012g0002 a0001c0001t0012g0003	3	121	0.0248	618	c.181 others(637): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATTTACATATATTTATATATTTATATATAT TTATATTTTTTTATATATTTATATATATTTTTATATATATTTATATATTT ATAAATATATATATATTTATATATTTATAAATATATATATTTATATATTT ATAAATATATATATATTTATATATATTTACATATATATTTAGAATTACAT ATTTATATATATATTTATATTTATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(611): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGG GAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAG GGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGG AGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0020 a0001c0001t0030g0020	1	164	0.0061	618	c.923 others(637): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTC CCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCC CTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCAT TCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(611): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCAC CCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCAC CCTCACCCGCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCC TCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0156 a0008c0013t0001g0156	1	86	0.0116	618	c.39 others(629): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGAG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DNAH5_chr5_13685328_13949688	13827485	A A	ACAGGAGC others(611): Show ACAGGAGCCAGCATATAGCTCAGGCCATTGCTTCAAAGGGTGCAAGCCCC AAGCTCTGACAGTTTCCACATGGTGCTGGGCCTGCAGGTGTGCAGAAGAC AAGAATTGAGGTTTGGGAACCTCCACCTAGATTTCAGAGGATGTATGGAA ACACCAAGATGTCCAGGCAGAAGTTTCCTGCGTGGGTGGAGCCCTCATGG AGAACCTCTGCTAGAGCAGTGCAGAAGGGAATGTGGGATTGGAGCCCCCA CACAGAGTCCCCACTGAGACACTGCCTAATGGAGCTGTGAGAAAAGGACC ACCATCCTTCAGATGCCAGAATGGTAGATCCACTGACAGCTTGTACTGTG CACCTAGAAAAGCCACAGACACTCAACATCAGGCCATGAAAGCAGCCAGG AGCGTGGCTGTACCCTGAAAAGCCACAGGCGTGGAGCTGCCCAAGGCTTT AGGAGCCCACCTCTTGCATCAGCAGGTCTGGATGTGAGACATGGAGTCAA AGCAGATCATTTTGGAAATTTAAGGTTTAATTACTGCCTTATTGAATTTT GGACTTGCATGAGGCCTGTAGCCTCTTTGTTTTGGCCAATTTCTCCCATT TGGAACAGGTATATTTACC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(54): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01934.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02965.hp1 HG03017.hp2 HG03486.hp1 HG03516.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18949.hp1 NA18955.hp1 NA18956.hp1 NA18970.hp1 NA18990.hp2 NA19006.hp2 NA19062.hp1 NA19068.hp1 NA19078.hp2	a0002 a0005 a0007 others(36): Show a0002 a0005 a0007 a0008 a0009 a0017 a0018 a0022 a0023 a0029 a0036 a0037 a0040 a0044 a0047 a0048 a0050 a0053 a0054 a0055 a0057 a0066 a0067 a0073 a0078 a0081 a0085 a0098 a0109 a0112 a0115 a0116 a0121 a0124 a0125 a0128 a0133 a0135 a0142	a0002c0180 a0005c0026 a0005c0056 others(45): Show a0002c0180 a0005c0026 a0005c0056 a0007c0070 a0008c0007 a0009c0003 a0009c0041 a0009c0093 a0017c0020 a0017c0091 a0018c0040 a0018c0087 a0018c0092 a0022c0200 a0023c0008 a0029c0088 a0029c0094 a0036c0021 a0037c0023 a0040c0153 a0040c0155 a0044c0169 a0044c0181 a0047c0049 a0048c0182 a0050c0086 a0053c0152 a0054c0206 a0055c0074 a0057c0157 a0066c0167 a0067c0110 a0073c0104 a0078c0204 a0081c0039 a0085c0156 a0098c0044 a0109c0203 a0112c0095 a0115c0134 a0116c0168 a0121c0205 a0124c0185 a0125c0151 a0128c0154 a0133c0201 a0135c0125 a0142c0100	a0002c0180t0012 a0005c0026t0002 a0005c0056t0003 others(45): Show a0002c0180t0012 a0005c0026t0002 a0005c0056t0003 a0007c0070t0003 a0008c0007t0002 a0009c0003t0002 a0009c0041t0002 a0009c0093t0002 a0017c0020t0001 a0017c0091t0001 a0018c0040t0001 a0018c0087t0001 a0018c0092t0001 a0022c0200t0016 a0023c0008t0002 a0029c0088t0008 a0029c0094t0008 a0036c0021t0002 a0037c0023t0002 a0040c0153t0001 a0040c0155t0009 a0044c0169t0001 a0044c0181t0001 a0047c0049t0003 a0048c0182t0001 a0050c0086t0002 a0053c0152t0002 a0054c0206t0002 a0055c0074t0002 a0057c0157t0002 a0066c0167t0021 a0067c0110t0002 a0073c0104t0002 a0078c0204t0009 a0081c0039t0007 a0085c0156t0002 a0098c0044t0003 a0109c0203t0002 a0112c0095t0001 a0115c0134t0001 a0116c0168t0024 a0121c0205t0001 a0124c0185t0001 a0125c0151t0002 a0128c0154t0001 a0133c0201t0001 a0135c0125t0004 a0142c0100t0002	a0002c0180t0012g0166 a0005c0026t0002g0036 a0005c0026t0002g0053 others(54): Show a0002c0180t0012g0166 a0005c0026t0002g0036 a0005c0026t0002g0053 a0005c0056t0003g0250 a0007c0070t0003g0237 a0008c0007t0002g0127 a0008c0007t0002g0170 a0008c0007t0002g0180 a0009c0003t0002g0041 a0009c0003t0002g0068 a0009c0003t0002g0084 a0009c0041t0002g0038 a0009c0093t0002g0049 a0017c0020t0001g0064 a0017c0020t0001g0109 a0017c0091t0001g0050 a0018c0040t0001g0044 a0018c0087t0001g0071 a0018c0092t0001g0106 a0022c0200t0016g0218 a0023c0008t0002g0215 a0023c0008t0002g0216 a0023c0008t0002g0217 a0029c0088t0008g0032 a0029c0094t0008g0043 a0036c0021t0002g0207 a0037c0023t0002g0040 a0037c0023t0002g0073 a0040c0153t0001g0205 a0040c0155t0009g0204 a0044c0169t0001g0196 a0044c0181t0001g0175 a0047c0049t0003g0238 a0048c0182t0001g0165 a0050c0086t0002g0065 a0053c0152t0002g0131 a0054c0206t0002g0229 a0055c0074t0002g0056 a0057c0157t0002g0133 a0066c0167t0021g0116 a0067c0110t0002g0030 a0073c0104t0002g0031 a0078c0204t0009g0226 a0081c0039t0007g0005 a0085c0156t0002g0203 a0098c0044t0003g0249 a0109c0203t0002g0230 a0112c0095t0001g0087 a0115c0134t0001g0161 a0116c0168t0024g0234 a0121c0205t0001g0225 a0124c0185t0001g0129 a0125c0151t0002g0187 a0128c0154t0001g0202 a0133c0201t0001g0210 a0135c0125t0004g0247 a0142c0100t0002g0074	57	193	0.2953	618	c.644 others(637): Show c.6444+2024_6444+2025insGGTAAATATACCTGTTCCAAATGGGA GAAATTGGCCAAAACAAAGAGGCTACAGGCCTCATGCAAGTCCAAAATTC AATAAGGCAGTAATTAAACCTTAAATTTCCAAAATGATCTGCTTTGACTC CATGTCTCACATCCAGACCTGCTGATGCAAGAGGTGGGCTCCTAAAGCCT TGGGCAGCTCCACGCCTGTGGCTTTTCAGGGTACAGCCACGCTCCTGGCT GCTTTCATGGCCTGATGTTGAGTGTCTGTGGCTTTTCTAGGTGCACAGTA CAAGCTGTCAGTGGATCTACCATTCTGGCATCTGAAGGATGGTGGTCCTT TTCTCACAGCTCCATTAGGCAGTGTCTCAGTGGGGACTCTGTGTGGGGGC TCCAATCCCACATTCCCTTCTGCACTGCTCTAGCAGAGGTTCTCCATGAG GGCTCCACCCACGCAGGAAACTTCTGCCTGGACATCTTGGTGTTTCCATA CATCCTCTGAAATCTAGGTGGAGGTTCCCAAACCTCAATTCTTGTCTTCT GCACACCTGCAGGCCCAGCACCATGTGGAAACTGTCAGAGCTTGGGGCTT GCACCCTTTGAAGCAATGGCCTGAGCTATATGCTGGCTCCTG	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13827485	A A	ACAGGAGC others(611): Show ACAGGAGCCAGCATATAGCTCAGGCCATTGCTTCAAAGGGTGCAAGCCCC AAGCTCTGACAGTTTCCACATGGTGCTGGGCCTGCAGGTGTGCAGAAGAC AAGAATTGAGGTTTGGGAACCTCCACCTAGATTTCAGAGGATGTATGGAA ACACCAAGATGTCCAGGCAGAAGTTTCCTGCGTGGGTGGAGCCCTCATGG AGAACCTCTGCTAGAGCAGTGCAGAAGGGAATGTGGGATTGGAGCCCCCA CACAGAGTCCCCGCTGAGACACTGCCTAATGGAGCTGTGAGAAAAGGACC ACCATCCTTCAGATGCCAGAATGGTAGATCCACTGACAGCTTGTACTGTG CACCTAGAAAAGCCACAGACACTCAACATCAGGCCATGAAAGCAGCCAGG AGCGTGGCTGTACCCTGAAAAGCCACAGGCGTGGAGCTGCCCAAGGCTTT AGGAGCCCACCTCTTGCATCAGCAGGTCTGGATGTGAGACATGGAGTCAA AGCAGATCATTTTGGAAATTTAAGGTTTAATTACTGCCTTATTGAATTTT GGACTTGCATGAGGCCTGTAGCCTCTTTGTTTTGGCCAATTTCTCCCATT TGGAACAGGTATATTTACC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0036 a0036	a0036c0021 a0036c0021	a0036c0021t0002 a0036c0021t0002	a0036c0021t0002g0051 a0036c0021t0002g0051	1	137	0.0073	618	c.644 others(637): Show c.6444+2024_6444+2025insGGTAAATATACCTGTTCCAAATGGGA GAAATTGGCCAAAACAAAGAGGCTACAGGCCTCATGCAAGTCCAAAATTC AATAAGGCAGTAATTAAACCTTAAATTTCCAAAATGATCTGCTTTGACTC CATGTCTCACATCCAGACCTGCTGATGCAAGAGGTGGGCTCCTAAAGCCT TGGGCAGCTCCACGCCTGTGGCTTTTCAGGGTACAGCCACGCTCCTGGCT GCTTTCATGGCCTGATGTTGAGTGTCTGTGGCTTTTCTAGGTGCACAGTA CAAGCTGTCAGTGGATCTACCATTCTGGCATCTGAAGGATGGTGGTCCTT TTCTCACAGCTCCATTAGGCAGTGTCTCAGCGGGGACTCTGTGTGGGGGC TCCAATCCCACATTCCCTTCTGCACTGCTCTAGCAGAGGTTCTCCATGAG GGCTCCACCCACGCAGGAAACTTCTGCCTGGACATCTTGGTGTTTCCATA CATCCTCTGAAATCTAGGTGGAGGTTCCCAAACCTCAATTCTTGTCTTCT GCACACCTGCAGGCCCAGCACCATGTGGAAACTGTCAGAGCTTGGGGCTT GCACCCTTTGAAGCAATGGCCTGAGCTATATGCTGGCTCCTG	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78			chr5	TogoVar
EHMT1_chr9_137614005_137841127	137716361	G G	GTGTTGGT others(611): Show GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTG TGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0008 a0001c0014t0001g0008	1	88	0.0114	618	c.86- others(631): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGG TGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGG TGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137721354	C C	CCAGACTT others(611): Show CCAGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCGCCCCCTCC CAGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCACCCCCTCCC AGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCACCCCCTCCCA GACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACTCCTCCCAG ACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCACCCAGA CTTCTCATACTCACCCCCCCAGACTTCTCACACTCACCCCTCCCAGACTT CTCACACTCACTCCTCCCAGACTTCTCACACTCGCCCCCTCCCAGACTTC TCACACTCACCCCCACCCAGACTTCTCACACTCACCCCTCCCAGACTTCT CACACTCACCCCCCCAGACTTCTCACACTCACCCCCTCCCACGCCTCTCA CCCCCTCCCAAGCCTCTCACCCCCTCCCACGCCTCTCACCCCCTCCCGCG CCTCTCACCCCCTCCCATGCCTCTCACCCTCACCCCCTCCCAAGCCCTCA CCCCCTCCCACGCCTCTCACCCCCTCCCAAGCCTCTCACCCCCTCCCACG CCTCTCACCCCCTCCCACG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	9	0.1111	618	c.642 others(635): Show c.642+4173_642+4174insAGACTTCTCACACTCACCCCTCCCAGAC TTCTCACACTCGCCCCCTCCCAGACTTCTCACACTCACCCCTCCCAGACT TCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCTCCCAGACTT CTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCCTCCCAGACTT CTCACACTCACTCCTCCCAGACTTCTCACACTCACCCCCTCCCAGACTTC TCACACTCACCCCACCCAGACTTCTCATACTCACCCCCCCAGACTTCTCA CACTCACCCCTCCCAGACTTCTCACACTCACTCCTCCCAGACTTCTCACA CTCGCCCCCTCCCAGACTTCTCACACTCACCCCCACCCAGACTTCTCACA CTCACCCCTCCCAGACTTCTCACACTCACCCCCCCAGACTTCTCACACTC ACCCCCTCCCACGCCTCTCACCCCCTCCCAAGCCTCTCACCCCCTCCCAC GCCTCTCACCCCCTCCCGCGCCTCTCACCCCCTCCCATGCCTCTCACCCT CACCCCCTCCCAAGCCCTCACCCCCTCCCACGCCTCTCACCCCCTCCCAA GCCTCTCACCCCCTCCCACGCCTCTCACCCCCTCCCACGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(611): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0118 a0003c0002t0001g0118	1	216	0.0046	618	c.190 others(637): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGAGTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0144 a0002c0019t0001g0144	1	181	0.0055	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTACTCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(41): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01123.hp1 HG01884.hp2 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02735.hp1 HG03225.hp1 HG03669.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18985.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19010.hp2 NA19012.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA20300.hp2 NA21309.hp2	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0005 a0006 a0008 a0009 a0012 a0014 a0019 a0021 a0033 a0039	a0001c0001 a0003c0015 a0003c0018 others(11): Show a0001c0001 a0003c0015 a0003c0018 a0004c0025 a0005c0006 a0006c0009 a0008c0014 a0009c0016 a0012c0024 a0014c0039 a0019c0038 a0021c0053 a0033c0047 a0039c0051	a0001c0001t0002 a0003c0015t0004 a0003c0018t0003 others(13): Show a0001c0001t0002 a0003c0015t0004 a0003c0018t0003 a0004c0025t0001 a0004c0025t0003 a0005c0006t0001 a0006c0009t0005 a0008c0014t0001 a0008c0014t0013 a0009c0016t0003 a0012c0024t0007 a0014c0039t0001 a0019c0038t0005 a0021c0053t0001 a0033c0047t0006 a0039c0051t0002	a0001c0001t0002g0003 a0001c0001t0002g0095 a0001c0001t0002g0101 others(39): Show a0001c0001t0002g0003 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0146 a0003c0015t0004g0045 a0003c0015t0004g0091 a0003c0015t0004g0092 a0003c0015t0004g0124 a0003c0015t0004g0125 a0003c0018t0003g0094 a0003c0018t0003g0120 a0004c0025t0001g0111 a0004c0025t0003g0118 a0004c0025t0003g0127 a0005c0006t0001g0004 a0005c0006t0001g0085 a0005c0006t0001g0096 a0005c0006t0001g0126 a0005c0006t0001g0289 a0006c0009t0005g0100 a0006c0009t0005g0109 a0006c0009t0005g0110 a0008c0014t0001g0098 a0008c0014t0001g0099 a0008c0014t0001g0119 a0008c0014t0001g0145 a0008c0014t0013g0135 a0009c0016t0003g0075 a0012c0024t0007g0077 a0014c0039t0001g0140 a0019c0038t0005g0115 a0021c0053t0001g0102 a0033c0047t0006g0066 a0039c0051t0002g0112	44	224	0.1964	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp2 HG01361.hp1 others(11): Show HG01243.hp2 HG01346.hp2 HG01361.hp1 HG02055.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03453.hp1 HG03486.hp2 HG03688.hp1 NA19043.hp1 NA20752.hp1	a0002 a0007 a0009 others(5): Show a0002 a0007 a0009 a0010 a0012 a0013 a0034 a0043	a0002c0019 a0007c0013 a0009c0016 others(6): Show a0002c0019 a0007c0013 a0009c0016 a0009c0030 a0010c0012 a0012c0024 a0013c0031 a0034c0055 a0043c0045	a0002c0019t0018 a0007c0013t0002 a0009c0016t0003 others(7): Show a0002c0019t0018 a0007c0013t0002 a0009c0016t0003 a0009c0030t0001 a0009c0030t0006 a0010c0012t0002 a0012c0024t0007 a0013c0031t0001 a0034c0055t0011 a0043c0045t0005	a0002c0019t0018g0122 a0007c0013t0002g0082 a0009c0016t0003g0056 others(11): Show a0002c0019t0018g0122 a0007c0013t0002g0082 a0009c0016t0003g0056 a0009c0030t0001g0043 a0009c0030t0006g0079 a0010c0012t0002g0055 a0010c0012t0002g0062 a0010c0012t0002g0064 a0010c0012t0002g0065 a0012c0024t0007g0052 a0013c0031t0001g0040 a0013c0031t0001g0057 a0034c0055t0011g0081 a0043c0045t0005g0080	14	194	0.0722	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTATTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAATAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp2 others(4): Show HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01433.hp2 HG03516.hp1 NA20129.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0010	a0003c0018 a0005c0054 a0006c0009 others(1): Show a0003c0018 a0005c0054 a0006c0009 a0010c0012	a0003c0018t0003 a0005c0054t0001 a0006c0009t0005 others(1): Show a0003c0018t0003 a0005c0054t0001 a0006c0009t0005 a0010c0012t0002	a0003c0018t0003g0031 a0003c0018t0003g0053 a0005c0054t0001g0059 others(4): Show a0003c0018t0003g0031 a0003c0018t0003g0053 a0005c0054t0001g0059 a0006c0009t0005g0060 a0006c0009t0005g0083 a0006c0009t0005g0084 a0010c0012t0002g0063	7	187	0.0374	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTATTTATTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAATAAATAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0058 a0002c0019t0001g0058	1	181	0.0055	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTATTTATTTATTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGTGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0003 a0017c0037t0003	a0017c0037t0003g0050 a0017c0037t0003g0050	1	181	0.0055	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTATTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCACTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399225	A A	ACCACCGC others(611): Show ACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCATCACCGCCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACC ACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCAC CACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACC ACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCGCCACCACCATCA CCATCATCACCACCACCACCACCATCACCACCACCACCACCACCACCGCC ACCACCACCACCATCACCG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	300	0.0033	618	c.-25 others(635): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCA CCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCACCACCATC ACCATCATCACCACCACCACCACCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCA TCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCGCCACCACCATCACCATCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCGCCACCACCACCACCATCACCGCCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(611): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCACCATCACCATCATCA CCACCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCGCCACCACCACCACCATCACCATCATCACCG CCGCCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACC ATCACCACCACAACCACCACCACCACCACCATCACCACCACTACCACCAC CACCACCACCATCACCACCACCACTACCATCATCACCACCACCACCACCA CCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	231	0.0043	618	c.-25 others(635): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ACCATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATC ACCGCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCA CCACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACC ATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCGC CACCACCACCACCACCATCACCACCACAACCACCACCACCACCACCATCA CCACCACTACCACCACCACCACCACCATCACCACCACCACTACCATCATC ACCACCACCACCACCACCACCACCATCACCATCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(611): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCAT CACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCA CCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACC ATCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCACCAC CACCACCATCACCACCACTACCACCACCACCACCACCATCACCACCACCA CTACCATCATCACCACCAC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	231	0.0043	618	c.-25 others(635): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCATCACCATCATCACCGCCGCCAC CACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACCA CCACAACCACCACCACCACCACCATCACCACCACTACCACCACCACCACC ACCATCACCACCACCACTACCATCATCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HRH3_chr20_62209960_62225278	62213280	G G	GGGGAGGG others(611): Show GGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGGGGGGGAAG GAGAGTGGGGATGGGTGGGGGAAGGAGAGTGGGGATGGGGGAAGGGAGAG CAGGGATGGGGGGGAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGG GATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGGGGGG GAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAAGGG AGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAG CGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGG GGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGA AGGGAGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGG AGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGG ATGGGGGGGAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGG GTGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGG AAGGAGAGCGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	162	0.0062	618	c.27 others(629): Show c.2725_*2726insACCCATCCCCGCTCTCCTTCCCCCCCATCCCTGC TCTCCCTTCCCCCATCCCCGCTCTCCCTCCCCCACCCATCCCCGCTCTCC TTCCCCCACCCATCCCCGCTCTCCTTCCCCCCCATCCTTGCTCTCCCTTC CCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCCCACCCAT CCCCACTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCATCCCCGCT CTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCTTGCTCTCC CTTCCCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCCCAC CCATCCCCACTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCATCCC CGCTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCTTGCT CTCCCTTCCCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCC CCACCCATCCCCGCTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCA TCCCCACTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCT TGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1679		chr20	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(611): Show TCCACCACCACCACCACCACCACCACCATCTCCTTCAACACCACTACCCC CACCACTACCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCA CTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCATC TCCTTCATCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCAC TACCACCATCTCCTCCACCACCACTACCCCCACCACTATCACCATCACCA TCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACT ACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTAC CACCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCT TCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACC ACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCAT CACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCA CCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACC ATCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01891.hp2 HG01257.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0179 a0001c0001t0002g0229 a0001c0001t0001g0179 a0001c0001t0002g0229	2	150	0.0133	618	c.804 others(635): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGT GGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGG TGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGTGGTAGTGGTG GTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGG GGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGG TGATAGTGGTGGGGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAA GAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGATGAAGGAGATGGTGGT GGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGA AGGAGATGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTGGGGGTAGTG GTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
INSR_chr19_7107265_7299414	7153470	A A	ACACACAC others(611): Show ACACACACCATACACGCACCACACACACACTACATGCACACCTCACACAC CACACCACACACCGCACACACACCACACAAATCACACACACACCACACAC ACCCACGCCACACACCACAGACCACACACACCACACACCCCACACACACC ACACACCACACACACCAAACACACCATACATGCACCACACAACCACATGC ACACCTCACACACCATACCACACACCACACACACCACACAAATCACACAC ATACTACACACACCCACGCCACACACCACACACACACCACACACGCCACA CAACGGACCACACATACACCACACACCACAAACACAACCACACACACACT ATACACACACACCACACACACCACACAACAGACCACACATACACACACCA CACACCACACACACCATACACACACACCACACATACCACACACACCACAC ACACAACCACACACACACACCACACAACAGACCACACATACACACACCAC AAACACAACCACACACACCACACCATACACACACACCATACACGCACCAC ACACACACCACATACACACTTCACACACACCACACACCACACAAATCACA CACACCACCACACCCACGC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04199.hp1 HG03492.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0161 a0001c0001t0004 a0001c0003t0161	a0001c0001t0004g0210 a0001c0003t0161g0289 a0001c0001t0004g0210 a0001c0003t0161g0289	2	225	0.0089	618	c.203 others(635): Show c.2030-544_2030-543insGCGTGGGTGTGGTGGTGTGTGTGATTTG TGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGT GTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGTGTGT GTATGTGTGGTCTGTTGTGTGGTGTGTGTGTGTGGTTGTGTGTGTGGTGT GTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTGTGTGGTGTGTG TATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGTATAGTGTGTGT GTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGTTGTGTGGCGTG TGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGTATGTGTGTGAT TTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGTGTGCATGTGGT TGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGTGGTGTGTGT GGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGCGTGGGTGTGTGTGGT GTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGTGGTGTGGTGTGTGAG GTGTGCATGTAGTGTGTGTGTGGTGCGTGTATGGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7153485	G G	GCACCACA others(611): Show GCACCACACACACACTACATGCACACCTCACACACCACACCACACACCGC ACACACACCACACAAATCACACACACACCACACACACCCACGCCACACAC CACAGACCACACACACCACACACCCCACACACACCACACACCACACACAC CAAACACACCATACATGCACCACACAACCACATGCACACCTCACACACCA TACCACACACCACACACACCACACAAATCACACACATACTACACACACCC ACGCCACACACCACACACACACCACACACGCCACACAACGGACCACACAT ACACCACACACCACAAACACAACCACACACACACTATACACACACACCAC ACACACCACACAACAGACCACACATACACACACCACACACCACACACACC ATACACACACACCACACATACCACACACACCACACACACAACCACACACA CACACCACACACACAACACACAACAGACCACACATACACACACCACAAAC ACAACCACACACACCACACCATACACACACACCATACACGCACCACACAC ACACCACATACACACTTCACACACACCACACACCACACAAATCACACACA CCACCACACCCACGCCACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0029 a0001c0039 a0001c0029 a0001c0039	a0001c0029t0004 a0001c0039t0129 a0001c0029t0004 a0001c0039t0129	a0001c0029t0004g0168 a0001c0039t0129g0193 a0001c0029t0004g0168 a0001c0039t0129g0193	2	292	0.0068	618	c.203 others(635): Show c.2030-559_2030-558insTGTGGCGTGGGTGTGGTGGTGTGTGTGA TTTGTGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGT GCGTGTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGT GTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTGG TTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGT GGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGT GTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGT CCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTG TAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTG AGGTGTGCATGTGGTTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTG GTGTGTGGTGTGTGTGGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGC GTGGGTGTGTGTGGTGTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGT GGTGTGGTGTGTGAGGTGTGCATGTAGTGTGTGTGTGGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
KIRREL3_chr11_126418358_127005770	126799415	C C	CATGTGTG others(611): Show CATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTATC TATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCATG TGCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCT GGGTGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTAT CTGCATATGTGCATGTATCTATGTGTGCATGTGTGTGTCTGTGTGTGCAT GTGCATGTATCTGTGCATGTGCATGTATCTGTGCATGTGTGTATCTGTGT GCATGTGCACGTGGTATCTGGGTGTGTGCATGTGTGTGCATGTGTGTATC TGTGTGTGCATATGTGTATCTGTGTGTGCATGTGTGTATCTGTGTGTGTG CATGTGTATATCTGTGTGTGCATGTGCATATCTGTGTTGTGCATGTGTGT ATCTGTGTGTGTGCATGTGTGTATCTGTGTGTGCACGTGGTATCTGTGTG TGTGCATGTATCTGCGTGTGTGTATTCATGTGTGCATGTGTGTATCTGTG TGTACACATATCTGTGTGTGCATGTATCTGTGTGTGCGCATGTGTGTATC TGTGTTTGCATGTGTGTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	101	0.0099	618	c.55+ others(637): Show c.55+201039_55+201040insATACACACATGCAAACACAGATACAC ACATGCGCACACACAGATACATGCACACACAGATATGTGTACACACAGAT ACACACATGCACACATGAATACACACACGCAGATACATGCACACACACAG ATACCACGTGCACACACAGATACACACATGCACACACACAGATACACACA TGCACAACACAGATATGCACATGCACACACAGATATACACATGCACACAC ACAGATACACACATGCACACACAGATACACATATGCACACACAGATACAC ACATGCACACACATGCACACACCCAGATACCACGTGCACATGCACACAGA TACACACATGCACAGATACATGCACATGCACAGATACATGCACATGCACA CACAGACACACACATGCACACATAGATACATGCACATATGCAGATACACA TATGCACACACAGATACACACATGCACACACATGCACACACCCAGATACC ACGTGCACATGCACACAGATACACACATGCACAGATACATGCACATGCAC AGATACATGCACATGCACACACAGACACACACATGCACACATAGATACAT GCACATATGCAGATACACATATGCACACACAGATACACACAT	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KREMEN1_chr22_29068035_29151820	29120188	A A	AGGAAACA others(611): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA TGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATGAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0249 a0001c0001t0016g0257 a0001c0001t0016g0249 a0001c0001t0016g0257	2	136	0.0147	618	c.353 others(635): Show c.353-1058_353-1057insAGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAG GGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACA GGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATG GAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTG ATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGA GAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAG GAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(611): Show ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATATATTTATATATATATATTTTTATATATATTTATATAT ATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTAT ATATAGTTATATATATATTTATATATATATATTTTTATATATATATTTAT ATATATATATTTTTATATATATATTTATATATATTTATATATATAAATAT ATATATATTTATATATATATTTATATATATAAATATATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATTTATATATTTATAT ATGTATTTATATATATTTATATATGTATTTATATATATTTATATATAATT ATATGTATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02897.hp1 HG02055.hp2 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0010 a0003c0003t0002g0013 a0003c0003t0002g0010 a0003c0003t0002g0013	2	81	0.0247	618	c.125 others(635): Show c.125+9673_125+9674insTTATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATATATTTATATATATATATTT TTATATATATTTATATATATTTTTATATATAGTTATATATATTTATATAT AGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATAT AGTTATATATATAGTTATATATAGTTATATATATATTTATATATATATAT TTTTATATATATATTTATATATATATATTTTTATATATATATTTATATAT ATTTATATATATAAATATATATATATTTATATATATATTTATATATATAA ATATATATATATTTATATATATATTTATATATATTTATATATATTTATAT ATATTTATATATTTATATATGTATTTATATATATTTATATATGTATTTAT ATATATTTATATATAATTATATGTATTTATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3502114	C C	CGAGTGTG others(611): Show CGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGTG TGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC CGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTC ACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCC CCCGTGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCT CACATGGGCTCCTGGCGAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0028 a0028	a0028c0024 a0028c0024	a0028c0024t0004 a0028c0024t0004	a0028c0024t0004g0020 a0028c0024t0004g0020	1	290	0.0034	618	c.218 others(635): Show c.2189-194_2189-193insCTCGCCAGGAGCCCATGTGAGGAGGCGC GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCACGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCC GGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MRPL28_chr16_361969_375538	370341	A A	ACCCCCCC others(611): Show ACCCCCCCCCGGCCCCGGCTCTCACCCGCTACCCTACCGGCCCCCCGGCT CTCACCCCGCTACCCCTGCCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCTCCTTACCCCGGCCCCCCGGCTCTCAACCCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCCCGGCTCTCACCCGCTACCACCCCTGCCCCCGGCTCTCACC CCGCTACCCCTGCCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGCTCT CACCTCCTACCCCGCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCT CACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACCCCGGCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCGGCCTCG GCTCTCACCCCCCTACCCCCGGCCCCGGCTCTCACCCCTACCCCTGCCCC CGGCTCTCACCCCCGCTAC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	377	0.0027	618	c.-7- others(631): Show c.-7-117_-7-116insGTAGCGGGGGTGAGAGCCGGGGGCAGGGGTAG GGGTGAGAGCCGGGGCCGGGGGTAGGGGGGTGAGAGCCGAGGCCGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGG GTTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGCGGGGTAGGAGGTGAGAGCGGGGGCCG GGGGTAGCGGGTGAGAGCCGGGGGGCAGGGGTAGCGGGGTGAGAGCCGGG GGCAGGGGTGGTAGCGGGTGAGAGCCGGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGG TTGAGAGCCGGGGGGCCGGGGTAAGGAGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGGCAGGGGTAGCGGGGTGAGAGCCGGGGGGCCG GTAGGGTAGCGGGTGAGAGCCGGGGCCGGGGGGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MYNN_chr3_169768396_169794716	169771253	A A	ATTTATAT others(611): Show ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAATATA AAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCA TAAATATAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTT ATATATCATAAATATAAAAAATTATGTTTATATATCATAAATATATAAAA ATTTATGTTTATATATCATAAATATATAAAAATTTATGTTTATATATCAT AAATATATAAAAATTTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	285	0.0035	618	c.-22 others(629): Show c.-2241_-2240insTTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATGTTTATATATCATAAATATAAAAAATTATGTTTA TATATCATAAATATAAAAAATTATGTTTATATATCATAAATATAAAAAAT TATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAATA TAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATAT CATAAATATATAAAAATTTATGTTTATATATCATAAATATATAAAAATTT ATGTTTATATATCATAAATATATAAAAATTTATG	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2142		chr3	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(611): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTAGTTTAT ATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTT TTAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATA GTTTTAAACTATATAAACTATAGTTTTAAACTATATAAACTATATAGTTT TAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTA GTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTT AAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAG TTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTAT ATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0157 a0002c0001t0001g0157	1	38	0.0263	618	c.342 others(637): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATAGTTTATATAGTTTAAAACTATATAG TTTATATAGTTTTAAACTATATAGTTTAAACTATATAGTTTAAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATATAAA CTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACT AGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTT TAAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCTCC others(611): Show TCTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTTCCCTCTCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTC TCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0134 a0001c0001t0064g0134	1	30	0.0333	618	c.433 others(635): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(611): Show TTATATATTATATTAATATAATTAATTATATTTATATATTATATTAATAT ATATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATA TATTATATTAATATATATTAATTATATTAATATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTAATTATATTAATAT ATATTAATATATATTAATTATATTAATATATATTAATATAATTAATATAT ATTAATATATATTATATTAATATATATTATATTAATATATATTAATATAT ATTATATTAATATATATTATATTAATATATATTAATATATATTATATTAA TATATATTAATATATATTATATTAATATATATTAATATATATTATATTAA TATATATTATATTAATATATATTAATATATATTATATTAATATATATTAT ATTAATATATATTATATTAATATATATTAATATATATTATATTAATATAT ATTATATTAATATATATTAATATATATTATATTAATATATATTATATTAA TATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0024 a0002c0006t0001g0024	1	267	0.0037	618	c.29- others(631): Show c.29-330_29-329insATTAATTATATTTATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTATATTAATATATAT TAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTAATATATATTAATTATATTAATATAT ATTAATATATATTAATTATATTAATATATATTAATATAATTAATATATAT TAATATATATTATATTAATATATATTATATTAATATATATTAATATATAT TATATTAATATATATTATATTAATATATATTAATATATATTATATTAATA TATATTAATATATATTATATTAATATATATTAATATATATTATATTAATA TATATTATATTAATATATATTAATATATATTATATTAATATATATTATAT TAATATATATTATATTAATATATATTAATATATATTATATTAATATATAT TATATTAATATATATTAATATATATTATATTAATATATATTATATTAATA TATATTAATTATATTAATATATATTATATTAATATA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NVL_chr1_224222345_224335172	224260513	T T	TCCAAAGT others(611): Show TCCAAAGTGCTGGGATTACAGGCATGAGCCAACACACCCAGCCTTCATCT GATAATTATTAAACGCTTAGAATGGGCAGAGCCTCTAACTAGAACCTATC TCTCAGATATAAAAGTGCAGAATGAATCCCTGCCCTGCAGAAGCTTGCAC ATCTAATCATAATTTGCTTATTTATTTCTTCTTTTCCTTTTTTTTTTTTT TTTTTTTGAGACAGGGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGT GCAATCATAGCTCACTGTGGCCTCAAACTTCTAGTTTCAAGTGATCCTCC TGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTACACACCAGTGCATCT GGCTAATTTTTATTTTTATTTTATATTTTTTGAGACAGAGTCTTGCTCTG TCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTG CCTCCTGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGA CTATGGGCACGTGCTACCACGCCCAGCTGATTTTTTTATTTTTAGTAGAG ACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATG ATCTGCCCGCCTCGGCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	282	0.0035	618	c.218 others(637): Show c.2182+6903_2182+7520dupGAGGCCGAGGCGGGCAGATCATGAGG TCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACT AAAAATAAAAAAATCAGCTGGGCGTGGTAGCACGTGCCCATAGTCCCAGC TACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTCAGGAGGCAGAGGT TGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCA AGACTCTGTCTCAAAAAATATAAAATAAAAATAAAAATTAGCCAGATGCA CTGGTGTGTACCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGGAT CACTTGAAACTAGAAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTG CACTCCAGCCTGGATGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAA AAAAAAGGAAAAGAAGAAATAAATAAGCAAATTATGATTAGATGTGCAAG CTTCTGCAGGGCAGGGATTCATTCTGCACTTTTATATCTGAGAGATAGGT TCTAGTTAGAGGCTCTGCCCATTCTAAGCGTTTAATAATTATCAGATGAA GGCTGGGTGTGTTGGCTCATGCCTGTAATCCCAGCACTTTGG	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	18/22			chr1	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCCCCCG others(611): Show TCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCA CGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCA CACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCGC ATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGCGCATCTCACACCCA CGGGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGCAGGTCCA CCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACA GCGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCA GGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATC TCACACCCGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	165	0.0061	618	c.361 others(637): Show c.361-15366_361-15365insGACCTGCTCGCGGGTGTGAGATGCGC CGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGG GGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCCCGTGGGTGT GAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGT GGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGG ACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCC CGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATG CTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCGG GAGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(611): Show AGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACAGGCAGGTCCCC CCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGA GCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACG GGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGT CCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACCC GCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCC CCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACG GCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0123 a0001c0001t0006g0123	1	205	0.0049	618	c.361 others(637): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTG CTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTG AGATGCTCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCT CCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGG GTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGA GATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCGTGG TCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCCTGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(611): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC GGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCT GGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAGA TGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	299	0.0033	618	c.876 others(633): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGCGCCCACCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCC TCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACTC TTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTCA CACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGCT GCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(611): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACACATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACACATATA ACATATATGTATTACATATATGTATTACACATATAACATATATGTATTAC ATATATGTATTACACATATAACATATATGTATTACATATATGTATTACAC ATATAACATGTATTACATATATGTAATACACATATAACATGTATTACATA TATGTATTACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	122	0.0082	618	c.70 others(629): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACACATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACACATATAACATATATGTATTACATATATGTATTACACATATA ACATATATGTATTACATATATGTATTACACATATAACATATATGTATTAC ATATATGTATTACACATATAACATGTATTACATATATGTAATACACATAT AACATGTATTACATATATGTATTACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCNT_chr21_46319156_46450769	46404022	G G	GTGTGTGT others(611): Show GTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGG GAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCC ACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGT GTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAAT TGTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCG TGGGAGAGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGG AGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACA GCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAAT GAACACAGCGTGGGAGAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG02965.hp1 others(5): Show HG02647.hp1 HG02895.hp2 HG02965.hp1 HG03130.hp1 HG03453.hp2 HG06807.hp1 NA19030.hp2 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0006 a0004c0004t0001 a0004c0004t0006	a0004c0004t0001g0091 a0004c0004t0001g0099 a0004c0004t0001g0100 others(5): Show a0004c0004t0001g0091 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0101 a0004c0004t0001g0104 a0004c0004t0001g0105 a0004c0004t0001g0111 a0004c0004t0006g0102	8	302	0.0265	618	c.511 others(637): Show c.5115+1547_5115+1548insGTGCCCACGCGGCGCGTGCTCGGTGA ATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGC TCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGG CGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCC CACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG TGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATT GTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGG GAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAAC ACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGG TGAATGAACACAGCGTGGGAGAGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370341	A A	ACCCCCCC others(611): Show ACCCCCCCCCGGCCCCGGCTCTCACCCGCTACCCTACCGGCCCCCCGGCT CTCACCCCGCTACCCCTGCCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCTCCTTACCCCGGCCCCCCGGCTCTCAACCCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCCCGGCTCTCACCCGCTACCACCCCTGCCCCCGGCTCTCACC CCGCTACCCCTGCCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGCTCT CACCTCCTACCCCGCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCT CACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACCCCGGCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCGGCCTCG GCTCTCACCCCCCTACCCCCGGCCCCGGCTCTCACCCCTACCCCTGCCCC CGGCTCTCACCCCCGCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0153 a0001c0001t0019g0153	1	355	0.0028	618	c.16 others(629): Show c.1645_*1646insGTAGCGGGGGTGAGAGCCGGGGGCAGGGGTAGGG GTGAGAGCCGGGGCCGGGGGTAGGGGGGTGAGAGCCGAGGCCGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGCGGGGTAGGAGGTGAGAGCGGGGGCCGGG GGTAGCGGGTGAGAGCCGGGGGGCAGGGGTAGCGGGGTGAGAGCCGGGGG CAGGGGTGGTAGCGGGTGAGAGCCGGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGGTT GAGAGCCGGGGGGCCGGGGTAAGGAGGTGAGAGCCGGGGGCCGGGGTAGG GGGTGAGAGCCGGGGGGCAGGGGTAGCGGGGTGAGAGCCGGGGGGCCGGT AGGGTAGCGGGTGAGAGCCGGGGCCGGGGGGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		446		chr16	TogoVar
PRR22_chr19_5777960_5789746	5787180	C C	CGGTGGTG others(611): Show CGGTGGTGGGAGTGGTGGGAGATGGTGTGAGGTCGTGGGAGATGGTGGGA GGTAGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCA GACGGTGGGAGGTGGTGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAG ACGGTGGGGAGGTGGTAGGGACGTGGGAGGTGGTGGAGACACTCGGAGAC GGTGGGATGTGGTGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGTG GTGGGAGATGGTGAGAGGTGGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTG GGAGGTGTGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGT GGGAAGTGGTGGGAGACGGAGATGGTGGAGACGGTGGGGAGACGGCGGGA GGTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAG GTGGCAGGAGACGGTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0033 a0010c0015t0001g0033	1	380	0.0026	618	c.-25 others(629): Show c.-2521_-2520insTCCCACCGTCTCCTGCCACCTCCCACGTCTCCTG CCACCTCCCGCCATCTCCCGCCGCCTCCCTCCACCTCCCGCCGTCTCCCC ACCGTCTCCACCATCTCCGTCTCCCACCACTTCCCACCACCTCCCGCCAT CTCCCACCACCTCCCGCCGTCTCCCACACACCTCCCACCGTCTCCCACCG TCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCTGCCAGTG TCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCACCACCTC CCACCACCTCCCACCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTC CCGCCGTCTCCCACCCACCTCTCACCATCTCCCACCACCTCCCACCGTCT GCCAATGTCTCCCACTACCTCCACCACATCCCACCGTCTCCGAGTGTCTC CACCACCTCCCACGTCCCTACCACCTCCCCACCGTCTCCCACCACCTCCC ACCACTTCCCACTGTCTCCACCACCTCCCACCGTCTGCCACCATCTCCCA CCACCTCCCACTGTCTGCCACTGTCTCCCACTACCTCCCACCATCTCCCA CGACCTCACACCATCTCCCACCACTCCCACCACC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2435		chr19	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(611): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGACGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0241 a0002c0002t0016g0241	1	68	0.0147	618	c.139 others(637): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGACGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(611): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01255.hp2 HG01257.hp1 others(16): Show HG01070.hp1 HG01255.hp2 HG01257.hp1 HG01516.hp1 HG02083.hp2 HG02523.hp2 HG02630.hp2 HG03239.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18946.hp2 NA18954.hp1 NA18968.hp1 NA18993.hp2 NA19007.hp2 NA19009.hp2 NA19064.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0041	a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0175 others(16): Show a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0223 a0001c0001t0007g0178 a0001c0001t0007g0229 a0001c0001t0014g0238 a0001c0001t0018g0240 a0001c0001t0022g0173 a0001c0001t0024g0195 a0001c0001t0025g0199 a0001c0001t0041g0210	19	86	0.2209	618	c.139 others(637): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(611): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	68	0.0147	618	c.139 others(637): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(611): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	68	0.0147	618	c.139 others(637): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(611): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0232 a0001c0001t0011g0232	1	68	0.0147	618	c.139 others(637): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGT GGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(611): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01928.hp2 HG01981.hp2 HG01358.hp2 HG01928.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0170 a0001c0001t0002g0231 a0001c0001t0019g0207 a0001c0001t0002g0170 a0001c0001t0002g0231 a0001c0001t0019g0207	3	70	0.0429	618	c.139 others(637): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar

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