Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(675): Show TATATAAATATATATATTTATATTTATTTATACATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	95	0.0105	682	c.-97 others(699): Show c.-97-2605_-97-2604insATTTATATTTATTTATACATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(675): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATAAATATATATATTTATATTTATATA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATTTATATTTATATATTTATATTTATATATATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTAATATATATTTATATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	95	0.0105	682	c.-97 others(699): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATAAATATATATATTTATAT TTATATATATATATAAATATATATATTTATATTTATTTATATATATATAA ATATATATATTTATATTTATATTTATATATTTATATTTATATATATAAAT ATATATATTTATATTTATTTATATATATAAATATATATATTAATATATAT TTATATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(675): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATATATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	95	0.0105	682	c.-97 others(699): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATATATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(675): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp1 HG01993.hp2 others(6): Show HG00597.hp1 HG01192.hp1 HG01993.hp2 HG02165.hp2 HG03492.hp1 NA18954.hp2 NA18962.hp1 NA18966.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0033	a0001c0001t0001g0112 a0001c0001t0001g0154 a0001c0001t0001g0162 others(6): Show a0001c0001t0001g0112 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0004g0069 a0001c0001t0004g0114 a0001c0001t0006g0156 a0001c0001t0015g0113 a0001c0001t0033g0094	9	103	0.0874	682	c.-97 others(699): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(675): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	95	0.0105	682	c.-97 others(699): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(675): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATTTATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	95	0.0105	682	c.-97 others(699): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATTT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATGAA others(675): Show TATATGAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	95	0.0105	682	c.-97 others(699): Show c.-97-2615_-97-2614insGAATATATATATTTATATTTATTTATAT ATATAAATATATATATTTATATTTATTTATATATATAAATATATATATTT ATATTTATATATATATATAAATATATATATTTATATATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATTT ATATATATATAAATATATATATTTATATTTATATTTATATATTTATATTT ATATATATAAATATATATATTTATATTTATTTATATATATAAATATATAT ATTAATATATATTTATATATATAAATATATATATTTATATATAAATATAT ATTTATGTATATTTATATATAAATATATATATTTATATATATAAATATAT ATATTTATATATAAATATATATATTTATATATAAATATATATATAAATAT ATATATTTATATATAAATATATATATTTATATATATATTTATATATAAAT ATATATATTTATATATAAATATATATATTTATATATATAAATATATATAT TTATATATATAAATATATATATATTTATATTTACAAATATATATATTTAT ATATATATTTATATTTATATATATTTATATTTATATATATATATATAAAT ATATATTTATGTATATTTATATATAAATATAAATATATATTTATATATAA ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(675): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATC ATCACCACCACCATCACCACCACCACCACCATCATCATCACCACCATCAC CACCACCATCATCATCACCACCACCACCATCACCACCACCACCACCATGA CCACCACCACCACCCTCATCACCACCACCACCACCATCACCATTACCACT ACCACCGCCACCATCATCACCACCAGCACCACCAACACCATCATCACCAC CACCACCATCACCACCACCATCCCCATCATCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0093 a0001c0002t0009g0093	1	3	0.3333	682	c.116 others(701): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CAATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCA CCACCACCATCATCATCACCACCACCACCACCATCACCACCACCACCATC ATCACCATCATCACCACCACCATCACCACCACCACCACCATCATCATCAC CACCATCACCACCACCATCATCATCACCACCACCACCATCACCACCACCA CCACCATGACCACCACCACCACCCTCATCACCACCACCACCACCATCACC ATTACCACTACCACCGCCACCATCATCACCACCAGCACCACCAACACCAT CATCACCACCACCACCATCACCACCACCATCCCCATCATCACCACCACCA CCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(675): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCACAGCC GCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACA GCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCC CCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCAC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACA GCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCACAGCCGCCCCCC ACAGCCACCCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCC GCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCACCCCC CCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	5	0.2000	682	c.-41 others(697): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCC ACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCA CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCACAGCCGCCCCC CACAGCCACCCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCACCCC CCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCC CC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(675): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAA GGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAG GAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAG GGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGG AGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGA GGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGA GGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGG AGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	5	0.2000	682	c.-46 others(693): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTC TCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCC TCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCC TCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCT TCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCTTCTCCTCTTTTGTCCCT CCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCT CCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTC CTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTC CTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(675): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATGTATGTATATAAAACTATACAG TCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTAT ATATGTATGTAAAACTATAGTTATATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02109.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	171	0.0117	682	c.-30 others(693): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATGTATGTA TATAAAACTATACAGTCATATATGTATATAAAACTATACAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCA TATATGTATATAAAACTAGTTATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGAGAGGG others(675): Show GGAGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGG AGGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGGAGGGGGAGAGGGGGGG AGGGGGGGAGGGGGAGAGGGGGGGAGGGGGGGAGGGGGGGAGGGGGGAGA GGGGGGGAGGGGGGAGGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGG GGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGAGGGGGAGAGAGGGGGGAGAGGGGGAGAGAGGGGAG AGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGAGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGG AGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAG GGGGGAGAGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGAGGGGGAGAGAGGGG GAGAGAGGGGGGAGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	12	0.0833	682	c.525 others(699): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCTCCCCTCTCCCCCCTCCCCCCTCTCT CCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCCC CCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTC TCCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTC CCCCTCTCCCCTCTCTCCCCCTCTCCCCCCTCTCTCCCCCTCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTCCCCCCTCC CCCCCTCTCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCTCCCCCTCCC CCCCTCCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCTCTCCCCCTCTCCC CCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCCCCCTCTCCCCCC TCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(675): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCC CCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC CGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACAT GGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC CGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	32	0.0313	682	c.218 others(697): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGT GCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGT GCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGGGCACACTCGCCAGGAGCCTATGTGAGGCACAGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGG GGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGA GG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MLPH_chr2_237482251_237560322	237543634	G G	GGACAGTG others(675): Show GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGG GGACATTGGTGAGTGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGG GCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGGG ACATTGGTGAGTGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGC ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGAC AGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGGACAGTGGCGAGTGGGGGGACAGTGGCAAGTGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GACAGTGGCAAGTGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	263	0.0038	682	c.153 others(699): Show c.1539+975_1539+976insGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGACATTGGTGAGTGGGGACATTGGTGAGTGGGGACATTGGTGAG TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCA AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGACATTGGTGAGTGGGGACATTGGTGAGTGGGGACATTGGTGAGTG GGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAG TGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGACATTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGCGAGT GGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGCAAGT GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGT GGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(675): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	32	0.0313	682	c.241 others(701): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(675): Show TGTATATATATGTATATATATGTATATATATGTATATATATGTATATATA TATGTATATATATATGTATATATATATGTATATATATATGTATATATATA TATGTATATATATGTATATATATATGTATATATATATGTATATATATGTA TATATATATGTATATATATGTATATATATATGTATATATATATGTATATA TATATGTATATATATATGTATATATATGTATATATATACGTATATATATA TGTATATATATGTATATATATATGTATATATATATGTATATATATATGTA TATATATATATGTATATATATGTATATATATATATGTATATATATGTATG TATATATATGTATATATATATGTATATATATATGTATATATATATGTATA TATACGTATATATATATGTATATATATACGTATATATATGTATATATACG TATATATATATGTATATATATATACGTATATATATATGTATATATATGTA TATATATACGTATATATATATGTATATATATGTATATATATATACGTATA TATATACGTATATATATATGTATATATATATGTATATATATATGTATATA TATATGTATATATATATGTATATATATATGTATATATATATGTATATATA TATGTATATATATATATGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0248 a0001c0001t0023g0248	1	59	0.0169	682	c.484 others(697): Show c.484-693_484-692insGTGTATATATATACACATATATATATATAC ATATATATATACATATATATATACATATATATATACATATATATATACAT ATATATATACATATATATATACATATATATATACATATATATATACGTAT ATATATACGTATATATATATACATATATATACATATATATATACGTATAT ATATACATATATATACATATATATATACGTATATATATATACATATATAT ATACGTATATATACATATATATACGTATATATATACATATATATATACGT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATACATACATATATATACATATATATATATACATATATATACATATATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ACATATATATATACGTATATATATACATATATATACATATATATATACAT ATATATATACATATATATATACATATATATATACATATATATACATATAT ATATACATATATATACATATATATATACATATATATATACATATATATAC ATATATATATATACATATATATATACATATATATATACATATATATATAC ATATATATATACATATATATACATATATATACATATATATACATATATAT AC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCGCCT others(675): Show GCCCGCCTTACCCACTACTGGGTCCCTCCGGCCGCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCC CTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGT CCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0332 a0003c0006t0001g0332	1	122	0.0082	682	c.148 others(701): Show c.1480-2580_1480-2579insTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGAG GGTGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGCCGGAGGGACCCAGTAGTGGGTAA GGCGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(675): Show CTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCC CCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCC CGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCC TCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCC TCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCC CCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC CGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCC TCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCC TCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCC CCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC CGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCC TCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCC TCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCC CCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0164 a0001c0021t0003g0164	1	242	0.0041	682	c.47 others(693): Show c.4754_*4755insTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGT CTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGC AGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCG CCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCA GACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTG TCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTG CAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCG CCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCA GACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTG TCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTG CAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCG CCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCA GACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTG TCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(675): Show CTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCC CCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCC GGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCT CCTGTCTCCGCCTGCAGCCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCC GCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCC CCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC CGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCC TCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCC GCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCC CCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC CGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCC TCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCC TCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCC CCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0272 a0001c0015t0001g0272	1	242	0.0041	682	c.47 others(693): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGT CTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGC AGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGC CCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCTCGGCA GACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTG TCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTG CAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCG CCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCA GACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTG TCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTG CAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCG CCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCA GACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTG TCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(675): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGACCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCAAGTCCCTCCCCACAGAG CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCCAGT CCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTCC CCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCAC AGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGC CCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCAAG TCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCCC CCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT CCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAG TCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0046 a0001c0017t0004g0046	1	8	0.1250	682	c.140 others(699): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCT GTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGG ACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGA CTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGG GCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTC TGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAG GGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTTGGCTCTGTGGGGAGGGACTGGGGGGCT CTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGT GGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGGTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGA CTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139041	T T	TTCTTTTC others(675): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0219 a0001c0001t0005g0219	1	360	0.0028	682	c.487 others(699): Show c.487+1425_487+1426insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTC	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9			chr9	TogoVar
PAK2_chr3_196734857_196837647	196811191	A A	ATTCCTTC others(675): Show ATTCCTTCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCC TCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCTTCCCTCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCC TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCTTCCTTCCCTCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0044 a0001c0001t0029g0044	1	174	0.0057	682	c.773 others(697): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTT CCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCTTCCCTCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTT CCCTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTCCCTT CC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(675): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCGCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	248	0.0040	682	c.35 others(693): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCGCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(675): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00673.hp2 others(26): Show HG00408.hp2 HG00597.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp1 HG01978.hp1 HG02083.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 NA18939.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18962.hp1 NA18966.hp2 NA18982.hp2 NA19062.hp2 NA19064.hp2 NA19083.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0003 a0001c0002t0001g0026 a0001c0002t0001g0031 others(25): Show a0001c0002t0001g0003 a0001c0002t0001g0026 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0090 a0001c0002t0001g0109 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0153 a0002c0003t0001g0290	29	276	0.1051	682	c.35 others(693): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(675): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCATCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	248	0.0040	682	c.35 others(693): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCATCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PIEZO1_chr16_88710338_88790220	88729486	A A	ACAAAAAC others(675): Show ACAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACC CACAGCCCCATCTGCCACAGAGGGAACCTCGTGACCCAAAAACAAAGTGA CCCTCGATGCTGGGGAACCCAGGACATTCTGAACCCACAGCCCCCATCTG CCACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGG GAACCCAGGACGTGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCT CGCGACACAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGC TGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACA AAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCC ATCTGCCACAGAGGGAACCTCGTGACCCAAAAACAAAGTGACCCTCGATG CTGGGGAACCCAGGACATTCTGAACCCACAGCCCCCATCTGCCACAGAGG GAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGG ACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACACA AAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCAC AGCCCCATCTGCCACAGAGGGAACCTCGCGACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01167.hp2 HG01169.hp1 others(2): Show HG00099.hp2 HG01167.hp2 HG01169.hp1 HG02273.hp2 HG03834.hp2	a0005 a0011 a0005 a0011	a0005c0015 a0011c0025 a0011c0035 a0005c0015 a0011c0025 a0011c0035	a0005c0015t0001 a0011c0025t0001 a0011c0035t0001 a0005c0015t0001 a0011c0025t0001 a0011c0035t0001	a0005c0015t0001g0064 a0011c0025t0001g0050 a0011c0025t0001g0051 others(2): Show a0005c0015t0001g0064 a0011c0025t0001g0050 a0011c0025t0001g0051 a0011c0035t0001g0181 a0011c0035t0001g0182	5	93	0.0538	682	c.319 others(701): Show c.3197-1826_3197-1825insGGTCGCGAGGTTCCCTCTGTGGCAGA TGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACT TTGTTTTTGTGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTC AGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGC GAGGTTCCCTCTGTGGCAGATGGGGGCTGTGGGTTCAGAATGTCCTGGGT TCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCACGAGGTTCCCTCTGT GGCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGG GTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGT GGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTG TGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGCACGTCC TGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCC TCTGTGGCAGATGGGGGCTGTGGGTTCAGAATGTCCTGGGTTCCCCAGCA TCGAGGGTCACTTTGTTTTTGGGTCACGAGGTTCCCTCTGTGGCAGATGG GGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTG TTTTTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88729486	A A	ACAAAAAC others(675): Show ACAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACC CACAGCCCCATCTGCCACAGAGGGAACCTCGTGACCCAAAAACAAAGTGA CCCTCGATGCTGGGGAACCCAGGACATTCTGAACCCACAGCCCCCATCTG CCACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGG GAACCGAGGACGTGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCT CGCGACACAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGC TGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACA AAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCC ATCTGCCACAGAGGGAACCTCGTGACCCAAAAACAAAGTGACCCTCGATG CTGGGGAACCCAGGACATTCTGAACCCACAGCCCCCATCTGCCACAGAGG GAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGG ACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACACA AAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCAC AGCCCCATCTGCCACAGAGGGAACCTCGCGACC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0048 a0005c0015t0001g0048	1	89	0.0112	682	c.319 others(701): Show c.3197-1826_3197-1825insGGTCGCGAGGTTCCCTCTGTGGCAGA TGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACT TTGTTTTTGTGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTC AGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGC GAGGTTCCCTCTGTGGCAGATGGGGGCTGTGGGTTCAGAATGTCCTGGGT TCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCACGAGGTTCCCTCTGT GGCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGG GTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGT GGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTG TGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGCACGTCC TCGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCC TCTGTGGCAGATGGGGGCTGTGGGTTCAGAATGTCCTGGGTTCCCCAGCA TCGAGGGTCACTTTGTTTTTGGGTCACGAGGTTCCCTCTGTGGCAGATGG GGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTG TTTTTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(675): Show TATATATAATTATATGTAATTATATATAATTATATAATTATTATATAATT GTATATAATATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATAATTATATATTATTTATTATATAATATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATATATAATTATATATTATTTATTATATAATATATAATTATA TATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTAT ATATTATGTATTATATAATATATAATTATATATTATTTATTATATAATTA TATATTATGTATTATATAATATATAATTATATATTATGTATTATATAATT ATATAATTATATATTATGTATTATATAATTATATAATTATATATTATTTA TTACATAATTATATATTATTTATTACATAAGTATATATTATTTATTACAT AAGTATATATCACTTATTATATAATTGTATATAATTATTTATTATATAAT TGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATATAAT TCTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0106 a0001c0023t0003g0106	1	25	0.0400	682	c.862 others(699): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATTATATAATTGTATATAATATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATAATTATATATTATTTATTATATA ATATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATGTA TTATATAATATATAATTATATATTATGTATTATATAATATATAATTATAT ATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTATA TATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTA TATAATTATATATTATTTATTACATAATTATATATTATTTATTACATAAG TATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGTATA TAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTATA TAGTTATTTATTATATAATTCTATATAGTTATTTATTATATAATTCTATA TAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(675): Show TATATATAATTATATGTAATTATATATAATTATATAATTATTATATAATT GTATATAATATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATAATTATATATTATTTATTATATAATATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATATATAATTATATATTATTTATTATATAATATATAATTATA TATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTAT ATATTATTTATTATATAATATATAATTATATATTATTTATTATATAATTA TATATTATGTATTATATAATATATAATTATATAGTATGTATTATATAATT ATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTA TTACATAATTATATATTATTTATTACATAAGTATATATTATTTATTACAT AAGTATATATCACTTATTATATAATTGTATATAATTATTTATTATATAAT TGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATATAAT TCTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0009 a0005c0017t0009	a0005c0017t0009g0022 a0005c0017t0009g0022	1	25	0.0400	682	c.862 others(699): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATTATATAATTGTATATAATATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATAATTATATATTATTTATTATATA ATATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATGTA TTATATAATATATAATTATATATTATTTATTATATAATATATAATTATAT ATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTATA TAGTATGTATTATATAATTATATAATTATATATTATTTATTATATAATTA TATAATTATATATTATTTATTACATAATTATATATTATTTATTACATAAG TATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGTATA TAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTATA TAGTTATTTATTATATAATTCTATATAGTTATTTATTATATAATTCTATA TAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(675): Show TATATATAATTATATGTAATTATATATAATTATATAATTATTATATAATT GTATATAATATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATAATTATATATTATTTATTATATAATATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATATATAATTATATATTATTTATTATATAATATATAATTATA TATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTAT ATATTATTTATTATATAATATATAATTATATATTATTTATTATATAATTA TATATTATGTATTATATAATATATAATTATATATTATGTATTATATAATT ATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTA TTACATAATTATATATTATTTATTACATAAGTATATATTATTTATTACAT AAGTATATATCACTTATTATATAATTGTATATAATTATTTATTATATAAT TGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATATAAT TCTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	25	0.0400	682	c.862 others(699): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATTATATAATTGTATATAATATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATAATTATATATTATTTATTATATA ATATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATGTA TTATATAATATATAATTATATATTATTTATTATATAATATATAATTATAT ATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTATA TATTATGTATTATATAATTATATAATTATATATTATTTATTATATAATTA TATAATTATATATTATTTATTACATAATTATATATTATTTATTACATAAG TATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGTATA TAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTATA TAGTTATTTATTATATAATTCTATATAGTTATTTATTATATAATTCTATA TAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
POLG_chr15_89311320_89339824	89325107	A A	AGTGAGTG others(675): Show AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGTGAGTGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAG TGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGTGAGTGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGAGTGAGTGAGTGAGAGTGAGTGAG TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	358	0.0028	682	c.194 others(699): Show c.1949+342_1949+343insACTCACTCTCTCACTCACTCACTCACTC ACTCACTCACTCACTCTCACTCACTCACTCTCTCTCACTCACTCACTCAC TCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACAC TCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCACTCACTCAC TCACACTCACTCACTCACTCACTCACTCTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCACTCTCTCTCACTCACTCACTC TCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCACTC ACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCAC TCACTCTCTCACTCACTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCACACTCAC TCACTCACTCACTCACTCACTCACTCTCTCTCTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCAC TCAC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(675): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACA CACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCT TACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTA CACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCT TACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTA CACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCT TACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCT TACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTA CACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGGAGT CTTACACACGGAGTCTTACACACAGTCTTACACATGCAGTCTTACACACG CAGTCTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACA CGCGGTCTTACGGTCTTACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01517.hp1 HG01257.hp1 HG01258.hp1 HG01517.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0006 a0001c0002t0027 a0003c0005t0009 a0001c0002t0006 a0001c0002t0027 a0003c0005t0009	a0001c0002t0006g0149 a0001c0002t0027g0148 a0003c0005t0009g0010 a0001c0002t0006g0149 a0001c0002t0027g0148 a0003c0005t0009g0010	3	172	0.0174	682	c.38- others(697): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGCAG TCTTACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGG TCTTACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAG TCTTACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGG TCTTACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGG TCTTACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGG AGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCTTACAC ATGCAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACGCGGTCTT ACACACGCAGTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTAT GG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(675): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACA CACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCT TACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTA CACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCT TACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTA CACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCT TACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCT TACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTA CACACGCGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGT CTTACACATGCAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACG CGGCCTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACA CGCGGTCTTACGGTCTTACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18943.hp1 HG02004.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0062 a0001c0001t0001 a0001c0002t0062	a0001c0001t0001g0161 a0001c0002t0062g0191 a0001c0001t0001g0161 a0001c0002t0062g0191	2	171	0.0117	682	c.38- others(697): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGCAG TCTTACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGG TCTTACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAG TCTTACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGG TCTTACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGG TCTTACACACGGTCTTACACACGCGGTCTTACACACGGAGTCTTACACAC GGAGTCTTACACACAGTCTTACACATGCAGTCTTACACACGCAGTCTTAC ACACGCAGTCTTACACGCGGCCTTACACACGCAGTCTTACACGCGGTCTT ACACACGCAGTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTAT GG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	467520	G G	GGGGGCGT others(675): Show GGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0056 a0001c0001t0017g0056	1	267	0.0037	682	c.809 others(699): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RIMBP2_chr12_130391133_130721299	130482732	C C	CAATACAC others(675): Show CAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGG CAGACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTG CAGGGGAGGGGGCACACCTCATCCAAATACACCCATTGTGTGTGTACATG TGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAATTACACCCATTG TGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAA ATACACCCACTGTGTGTGTACATGTGTCCTATTCTGCAGGGGAGGGGGCA CACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCA GGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGTACATGTG TCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTG TGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCCAAT ACACCCACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGA CCTCATCCAAATACACCCACTGTGTGTGTACATGTGTCAGATTCTGCAGG GGAGGGGGCAGACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTC AGATTCTGCAGGGGAGGGGGCAGACCTCATCCA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	167	0.0060	682	c.-3- others(697): Show c.-3-3717_-3-3716insTGGATGAGGTCTGCCCCCTCCCCTGCAGAA TCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGTCTGCCCCC TCCCCTGCAGAATCTGACACATGTACACACACAGTGGGTGTATTTGGATG AGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAGTGGG TGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTAC ACACACAATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATC TGACACATGTACACACACAATGGGTGTATTGGGATGAGGTCTGCCCCCTC CCCTGCAGAATCTGACACATGTACACACACAATGGGTGTATTTGGATGAG GTGTGCCCCCTCCCCTGCAGAATAGGACACATGTACACACACAGTGGGTG TATTTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACAC ACACAATGGGTGTAATTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTG ACACATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCCCCTCCC CTGCAGAATCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGT CTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTA TT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130482732	C C	CAATACAC others(675): Show CAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGG CAGACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTG CAGGGGAGGGGGCACACCTCATCCAAATACACCCATTGTGTGTGTACATG TGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAATTACACCCATTG TGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAA ATACACCCACTGTGTGTGTACATGTGTCCTATTCTGCAGGGGAGGGGGCA CACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCA GGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGTACATGTG TCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTG TGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCCAAT ACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGA CCTCATCCAAATACACCCACTGTGTGTGTACATGTGTCAGATTCTGCAGG GGAGGGGGCAGACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTC AGATTCTGCAGGGGAGGGGGCAGACCTCATCCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp1 HG01243.hp2 others(8): Show HG00544.hp1 HG00741.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG02683.hp1 HG03688.hp2 NA18980.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0028	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0028t0001	a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0002g0031 others(8): Show a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0002g0031 a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0002t0002g0007 a0001c0003t0001g0077 a0001c0003t0001g0086 a0001c0003t0001g0116 a0001c0005t0001g0099 a0001c0028t0001g0114	11	177	0.0621	682	c.-3- others(697): Show c.-3-3717_-3-3716insTGGATGAGGTCTGCCCCCTCCCCTGCAGAA TCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGTCTGCCCCC TCCCCTGCAGAATCTGACACATGTACACACACAGTGGGTGTATTTGGATG AGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGG TGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTAC ACACACAATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATC TGACACATGTACACACACAATGGGTGTATTGGGATGAGGTCTGCCCCCTC CCCTGCAGAATCTGACACATGTACACACACAATGGGTGTATTTGGATGAG GTGTGCCCCCTCCCCTGCAGAATAGGACACATGTACACACACAGTGGGTG TATTTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACAC ACACAATGGGTGTAATTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTG ACACATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCCCCTCCC CTGCAGAATCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGT CTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTA TT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIPK1_chr6_3063494_3120187	3091589	T T	TAACCGCA others(675): Show TAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGC AGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGA ACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTG CCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAG AGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACC TCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCT ACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAAC CGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCC GCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCG CGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTC GGAACCGCAGCGCGCCTACCTGCCGCACCTCGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	331	0.0030	682	c.915 others(699): Show c.915+1940_915+1941insCGCGCCTACCTGCCGCACCTCGGAACCG CAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGC ACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCG CCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGG AACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCT GCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCA GAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCAC CTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCC TACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAA CCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGC CGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGC GCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCT CGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTA CCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACC GCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAMD11_chr1_918923_949574	934148	A A	AGGGGCGG others(675): Show AGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTA CAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCA GGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0238 a0002c0003t0004g0238	1	298	0.0034	682	c.843 others(699): Show c.843-1620_843-1619insCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGC TCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG TCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(675): Show GGGGGGTTGGGTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGGGGGGGTT GGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGT TTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGT TGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGG GGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGA GGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGG GTTGGGGGGGTTGAGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGAGTGAGGGGGGTG GGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	164	0.0061	682	c.464 others(695): Show c.464+91_464+92insTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGG GGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTG GGGGGGTTTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGT GGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTG GGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTG AGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGT TGAGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGGTTGGGGGGGTTGAGTGAGGGGGGTGGGGTCGGGGGGGGGTTG AGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGAGTGAG GGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(675): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	166	0.0060	682	c.115 others(699): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934373	C C	CATATATA others(675): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATTCCATATATATATATATTCCA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATTCCATATATATATATTCCATATATATATTCCATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATCTATTCCATAT ATATATATATTCCATATATATATCTATTCCATATATATATATATTCCATA TATATATCTATTCCATATATATATCTATTCCAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	233	0.0043	682	c.115 others(699): Show c.115-2603_115-2602insATGGAATAGATATATATATGGAATAGAT ATATATATGGAATATATATATATATGGAATAGATATATATATGGAATATA TATATATATGGAATAGATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATGGAATATATATATATATGGAATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(675): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	40	0.0250	682	c.77- others(699): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTC CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(675): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCAT CCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCC TCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCC CCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	117	0.0085	682	c.77- others(699): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(675): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	45	0.0222	682	c.22+ others(699): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTC CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(675): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCAT CCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCC TCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCC CCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	121	0.0083	682	c.22+ others(699): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(675): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0002 a0004c0024t0002	a0004c0024t0002g0029 a0004c0024t0002g0029	1	193	0.0052	682	c.165 others(699): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(675): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAA GGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAG GAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAG GGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGG AGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGA GGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGA GGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGG AGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	2	0.5000	682	c.624 others(697): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCT CTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTC TCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTC CTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTC CCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCTTCTCCTCTTTTGT CCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCT TTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTT TCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCT TCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCT TC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGG others(675): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGG TGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGG GGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGG AAGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA AGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGGAAGGGGGAGGAAGGAGGGGGAGGGGAGGGGAAGGG GGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGGAAGGGTAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGA AGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGAGGGG AGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03471.hp1 HG02809.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	4	0.5000	682	c.12 others(693): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCC CCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTACCCTTCCCCCCTTCCCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCC CCTTCCCCTCCCCTCCCCCTCCTTCCTCCCCCTTCCCCTTCCCCCCTTCC CCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCT CCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCTT CCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTC CCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCC CTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCAC CTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCT CCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246071783	G G	GTAGTTCT others(675): Show GTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTG CATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACT GTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTT CCACTGTGCTCACTGTGGATGCATCGTGTTAGTTCTGGGGAGGGATTCGT GTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGG GATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTTAGTTCT GGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCATCCTGT TAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGC ATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTG TCGCTGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTTCACTGTGC TCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCC ACTGTGCTCACTGTCGCTGCATCGTGTAGTTCTGGGGAGGGATTCGTGTG CTTTCCACTGTGCTCACTGTGGATGCTTCCTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	130	0.0077	682	c.532 others(703): Show c.532-141847_532-141846insACAGGAAGCATCCACAGTGAGCAC AGTGGAAAGCACACGAATCCCTCCCCAGAACTACACGATGCAGCGACAGT GAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCAT CCACAGTGAGCACAGTGAAAAGCACACGAATCCCTCCCCAGAACTACACG ATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAAC TAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCC CCAGAACTAACAGGATGCATCCACAGTGAGCACAGCGGAAAGCACACGAA TCCCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGC ACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGT GGAAAGCACACGAATCCCTCCCCAGAACTAACACGATGCATCCACAGTGA GCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCC ACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGA AGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACT AACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCC CAGAACTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246234172	C C	CTTCAATC others(675): Show CTTCAATCCACACAGTGATGAACATGTACCACACAGAGGAGAATCGCTCC TTCAGTCCACACTGTGATGAACATACACCACACAGAGGAGAAGTGCTCCT CAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTC AATTCACACTGTGATGCACATATACCACACAGAGGAGAAGCACTCCTCAA TTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAAT TCACACAGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATT CACACTGTGATGAACATATACCACACAGAAGAGAAGCACTCCTCAATTCA CACTGTGATGAACATGTACCACACAGAGGAGAAGCGCTCCTTCAATCCAC ACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATCCACA CAGTGATGAACATGTACCACACAGAGGAGAATCGCTCCTTCAGTCCACAC TGTGGTGAACATACACCACACAGAGGAGAAGTGCTCCTCAATTCACACTG TGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATTCACACTGT GATGCACATATACCACACAGAGGAGAAGCACTCCTCAATTCACACTGTGA TGAACATATACCACACAGAGGAGAAGCACTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	131	0.0076	682	c.531 others(701): Show c.531+93028_531+93029insAGGAGTGCTTCTCCTCTGTGTGGTAT ATGTTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATAT GTGCATCACAGTGTGAATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATG TTCATCACAGTGTGAATTGAGGAGCACTTCTCCTCTGTGTGGTGTATGTT CACCACAGTGTGGACTGAAGGAGCGATTCTCCTCTGTGTGGTACATGTTC ATCACTGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCA TCACAGTGTGGATTGAAGGAGCGCTTCTCCTCTGTGTGGTACATGTTCAT CACAGTGTGAATTGAGGAGTGCTTCTCTTCTGTGTGGTATATGTTCATCA CAGTGTGAATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCAC TGTGTGAATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCACA GTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTGCATCACAGT GTGAATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCACAGTG TGAATTGAGGAGCACTTCTCCTCTGTGTGGTGTATGTTCATCACAGTGTG GACTGAAGGAGCGATTCTCCTCTGTGTGGTACATGTTCATCACTGTGTGG ATTGAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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