Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(717): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	177	0.0056	724	c.53+ others(739): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(717): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCTCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCC TTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTTTCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCCTTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCC CTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	100	0.0100	724	c.-10 others(741): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTTCCCTCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTTCCCCCTTCCCCCC TTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCTCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(717): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTAAATATATAAATTATATAATATATATTATATAT TGTATATTATATAATTTATATAATATATTATATGTTATATAATATATATT ATATATTGTATATATTATATTATATATTATATATTTTATATATCATATAT AGTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATAT TTTTATATATTATATAGTATACTATATAATATATATTTTTATATATTATA TATAATATATAATTATATATCATATATATTTATATAATATATGATATATA ATATATAATATATATTATGTATTATATAATTATATAAAATATATCATATA TTATATATTATAAATAATATATTATATATTATATTATATATTATAAATAA TATATTATATATTATATTATATATTATAAATAATATATTATATATTATAT TATATATTATAAATAATATATTATATATTATATTACATATTATAAATAAT ATATTATATATTATATTACATATTATAAATAATATATTATATATTATATT ATATATTATAAATAATATATTATATATTATATTATAAATAATATATTATA TATTATAAATAATATATTATATATTATATTATAAATAATATATATTATAA ATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	44	0.0227	724	c.-1- others(741): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTAAATATATAAATTATAT AATATATATTATATATTGTATATTATATAATTTATATAATATATTATATG TTATATAATATATATTATATATTGTATATATTATATTATATATTATATAT TTTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTAT ATAGTATACTATATATTTTTATATATTATATAGTATACTATATAATATAT ATTTTTATATATTATATATAATATATAATTATATATCATATATATTTATA TAATATATGATATATAATATATAATATATATTATGTATTATATAATTATA TAAAATATATCATATATTATATATTATAAATAATATATTATATATTATAT TATATATTATAAATAATATATTATATATTATATTATATATTATAAATAAT ATATTATATATTATATTATATATTATAAATAATATATTATATATTATATT ACATATTATAAATAATATATTATATATTATATTACATATTATAAATAATA TATTATATATTATATTATATATTATAAATAATATATTATATATTATATTA TAAATAATATATTATATATTATAAATAATATATTATATATTATATTATAA ATAATATATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(717): Show CCCTCCCCCCTTCCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCC CCTTCTTCCTCCCTCCCATCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCTCCCCTCCCCCCTTCCTC CTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCCTC CTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCTTCCCCCTCCCCTCCC CCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCC TCCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCC CTCCTTCCTCCCCTCCCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCC TCCCTCCCCCTCCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCCTCCCCC TCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCCT CCCCTCCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCTCC CCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCT CCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCATCTTCCCT CCCCTCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGT CCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	9	0.1111	724	c.4-1 others(737): Show c.4-1376_4-1375insCCCTTCCCCCTCCCCTCCCCCTTCCTCATCCC CTTCCCCCTCCCCTTCTTCCTCCCTCCCATCCTCCCCCCCTCCCCTTCCC TCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCTCCCCTC CCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCCTCCCCTC CCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCTTCCC CCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCT CCTCCCTCCCCTCCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CTCCCCCTTCCCTCCTTCCTCCCCTCCCCCCTCCCCTACCCTCCTCCCTC CCCTTCCCTCCTCCCTCCCCCTCCCCCGTCCCCTCCTCCTCCCCCTCCCC TCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTC CCCTCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCT CTCCTCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTC CCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTC CCATCTTCCCTCCCCTCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(718): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAGGGGAAGGGGAAGGGAAGGGGGAAGGGAAAAGTAAGGGAAAGGAGAGG GGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGG GAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAA AGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATG GACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAG GGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0072 a0002c0004t0002g0072	1	5	0.2000	725	c.927 others(742): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCCTTCCCTTCCCCTTCCCCTTCC CTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCC CTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCT TCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCCTTCCCCT TCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTT CCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTT CCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTC CCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(718): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGG GAAAGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGG GGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGG GAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAA AGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATG GACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAG GGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp1 HG02486.hp1 others(1): Show HG01175.hp1 HG02280.hp1 HG02486.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0018 others(1): Show a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0020	4	8	0.5000	725	c.927 others(742): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCTTTCCC TTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCC TTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTT CCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCCTTCCCTT CCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTT CCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTTT CCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(718): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAGGGAAGGGGAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGGAAGGGG AAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGA GAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGA AGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAA GGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACG GATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGG GGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	5	0.2000	725	c.927 others(742): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCC CTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCT TCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCCTTCCCT TCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTT TCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTT TCCCCTTCCCTTCCCCTTCCCTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GTAGGGTT others(718): Show GTAGGGTTGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAG GGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGAAGGGGAAAAGGAAGG GAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGG GAAGGGAAGGGAAGGGGAAGGGGAAGGGGAAATGGAAGGGAAGGGAAGGG GAAGGGAAGGGAAGGGATGGGACAAGGAAGGGGTAGGGAAAAGGAAGGGG AAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAG GGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAG GGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAA GGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAG GGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGG AAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGACG GACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGAA GAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0074 a0002c0004t0002g0074	1	5	0.2000	725	c.927 others(742): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTT CCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCG TCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCC CTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCT TCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTT CCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCT TCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCT TCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCC CCTTCCTTTTCCCTACCCCTTCCTTGTCCCATCCCTTCCCTTCCCTTCCC CTTCCCTTCCCTTCCATTTCCCCTTCCCCTTCCCCTTCCCTTCCCTTCCC TTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCCTTC CCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCAACCCTA	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(718): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01169.hp2 others(3): Show HG00639.hp2 HG01167.hp2 HG01169.hp2 HG01496.hp1 HG01516.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0080 a0001c0002t0001g0105 others(3): Show a0001c0002t0001g0002 a0001c0002t0001g0080 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0199	6	150	0.0400	725	c.298 others(742): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCC GTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130428423	A A	ATCATCAT others(718): Show ATCATCATCATCACCACCATCATCATCACCACTATCATCATTACCATCAC CACCATCATCATCATGACCATCATCACCACCACCATCACCACCACCACTG TCATCACCATCATCACCATCACCACCACCACCATCATCATCACCACCACT GTCATCACCATCACCACCATCACCACCACCACCATCATCACTATCATCAC CACCATCATCACCACCATCATCATCACCATCACCATAACCACCACCACCA CCATCCTCATCATCACCATCAGTATCACCACCATCATTATCACCATCATC ACCACCACCATCATCACCACCAACACCATCATCATCATCACCATCATCAT CACCACCACTATCATCACCATCATCACCACCATCATCACCATCATCATCA CCACCACCATCATCACCATCATCATCACCACCACCATCATCACCATAATC ACCACCATCATCACCACCATCATCACACCACCAGTCATCACCATCACCAC CATCACCATCACCACCACCACCACCATCATCACCACCATCACCACCATCA CCACCATCATCACCATAACCAACACCACCATCACCACCACCACCATCATC CTCACACCACCACTGTCATCATCACCACTGTCATCACCATCACCACTACC ACCACCACCATCATCACCACCATCACCACCATCATCACCATAACCAACAT CACCATCACCACCACCACCACCATCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03139.hp1 HG01496.hp2 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0009 a0004c0012 a0001c0009 a0004c0012	a0001c0009t0001 a0004c0012t0027 a0001c0009t0001 a0004c0012t0027	a0001c0009t0001g0232 a0004c0012t0027g0233 a0001c0009t0001g0232 a0004c0012t0027g0233	2	280	0.0071	725	c.-28 others(744): Show c.-28+15036_-28+15037insGGATGGTGGTGGTGGTGGTGATGGTG ATGTTGGTTATGGTGATGATGGTGGTGATGGTGGTGATGATGGTGGTGGT GGTAGTGGTGATGGTGATGACAGTGGTGATGATGACAGTGGTGGTGTGAG GATGATGGTGGTGGTGGTGATGGTGGTGTTGGTTATGGTGATGATGGTGG TGATGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGGTGATGGTGATG GTGGTGATGGTGATGACTGGTGGTGTGATGATGGTGGTGATGATGGTGGT GATTATGGTGATGATGGTGGTGGTGATGATGATGGTGATGATGGTGGTGG TGATGATGATGGTGATGATGGTGGTGATGATGGTGATGATAGTGGTGGTG ATGATGATGGTGATGATGATGATGGTGTTGGTGGTGATGATGGTGGTGGT GATGATGGTGATAATGATGGTGGTGATACTGATGGTGATGATGAGGATGG TGGTGGTGGTGGTTATGGTGATGGTGATGATGATGGTGGTGATGATGGTG GTGATGATAGTGATGATGGTGGTGGTGGTGATGGTGGTGATGGTGATGAC AGTGGTGGTGATGATGATGGTGGTGGTGGTGATGGTGATGATGGTGATGA CAGTGGTGGTGGTGATGGTGGTGGTGATGATGGTCATGATGATGATGGTG GTGATGGTAATGATGATAGTGGTGATGATGATGGTGGTGATGATGATGA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	1/29			chr8	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(718): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	76	0.0132	725	c.955 others(742): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(718): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	76	0.0132	725	c.955 others(742): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C4orf19_chr4_37448925_37598510	37585260	G G	GTGTTGAG others(718): Show GTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAGAGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGA GAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGG AGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGA GGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAAA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGT TGAGGGAGGGGAGGGGAGAGGAGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0289 a0001c0001t0018g0290 a0001c0001t0001g0289 a0001c0001t0018g0290	2	347	0.0058	725	c.-22 others(742): Show c.-22-3585_-22-3584insGTTGAGGGAGAGGAGGGGAGATCAGAGG TGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGG GAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTG AGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGG GAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTA TTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAG GAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGA GGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAG GGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGAT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C7orf50_chr7_992006_1143247	1117305	A A	ACAGTTCT others(718): Show ACAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGAC ATCACTACAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGAT GATGACATCACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCACG CAGGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCC ACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCG ACGCCCACGCAGGATGATGACACCACTGCAGCTCTACGGACCGGCTTCCA TCACCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCGG CTTCCAGCACCGACGCCCACGCAGGATGATGACATCACTACAGCTCTACG GACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACACCACTGCAGC TCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCAC TGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGGATGATGA CATCACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGA TGATGACATCACTACAGTTCTACGGACCGGCTTCCATCACCGACGCCCAC GCAGGATGATGACATCACTACAGTTCTACGGACCGGCTTCCATCACTGAC GCCCACGCAGGATGATGACATCACTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	135	0.0074	725	c.129 others(742): Show c.129+9951_129+9952insCAGTGATGTCATCATCCTGCGTGGGCGT CAGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATGTCATCATCCTGCGT GGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATGTCATCATC CTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGATGTC ATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGT GATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGC TGCAGTGGTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCG TAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGCTGGAAGCC GGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATG GAAGCCGGTCCGTAGAGCTGCAGTGGTGTCATCATCCTGCGTGGGCGTCG GTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGG GCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCCTGCG TGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGATGTCATCAT CCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATGT CATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(718): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp2 others(6): Show HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01496.hp1 HG01516.hp1 HG01934.hp1 HG03710.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007	9	243	0.0370	725	c.-22 others(736): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCT GCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(718): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0316 a0002c0008t0001g0316	1	103	0.0097	725	c.300 others(742): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG AGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(718): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0109 a0002c0109	a0002c0109t0001 a0002c0109t0001	a0002c0109t0001g0117 a0002c0109t0001g0117	1	103	0.0097	725	c.300 others(742): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG AGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(718): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACC CTCCCACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTT CCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCCTACTA CTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCATCCAAC CCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCTCCCAGTACTC ACCTTCCAACCCTCCCACTATTCCCCCCTACTACTCACCTTCCAACCCTT CCACTATTTCCCCACTACTACTCACCTTCCAACCCTCCCACTATTTCCTC CCTCCAACTACTCACCTTCCAACCCTCCTACTATTCCCCCGCTACTACTC ACCTTCCAACCCTCCCACTATTCCCCCACTACTGCCCACCTTCCAACCCT CCCACTATTCCCCCGCTACTACCTATCTTCCAACCCTCCCACTATTTCCT CCCACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01496.hp2 others(9): Show HG00280.hp1 HG01069.hp2 HG01496.hp2 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02738.hp2 HG02970.hp1 HG03490.hp1 NA18968.hp2 NA19065.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0032 a0001c0001t0052 a0002c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0086 a0001c0001t0001g0090 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0116 a0001c0001t0001g0225 a0001c0001t0001g0242 a0001c0001t0002g0173 a0001c0001t0003g0099 a0001c0001t0009g0177 a0001c0001t0032g0052 a0001c0001t0052g0192 a0002c0002t0001g0003	12	13	0.9231	725	c.266 others(742): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGATAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTGGGGGGGAAATAGTGGAAGGGT TGGATGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTA GTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAA ATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGTGGGAGGG TTGGAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGGTTGGAAGGTGA GTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGA AATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAG GGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGT GGGGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(718): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGA GGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTG GGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGG GGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGA GGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGA GAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAG CTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGG AGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	11	0.0909	725	c.-26 others(734): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCT CCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCC TCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCT CCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTC CCCCTCCTCCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CLPTM1L_chr5_1312752_1350099	1329748	C C	CTGGTGGA others(718): Show CTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGA CTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGTGGACAGGG CCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGT GGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTC TGCCTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGTGGACAGAGCCTCA GGACTCTCTGCTTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGTGGACA GGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCCT GGTGGACAGGGCCTCAGGACTATCTGCCTGGTGGACAGGGCCTCAGGACT CTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGAGCC TCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGTGG ACAGAGCCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTG CCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGG ACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGG GCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGG TGGACAGGGCCTCAGGACTCTCTGCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02572.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0102 a0001c0001t0001g0103	2	281	0.0071	725	c.108 others(742): Show c.1080+531_1080+532insAGCAGAGAGTCCTGAGGCCCTGTCCACC AGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCC TGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCC TGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCA GAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTCCTGAGGCTCTGTCC ACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTCCTGAGG CTCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAG TCCTGAGGCCCTGTCCACCAGGCAGATAGTCCTGAGGCCCTGTCCACCAG GCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTG TCCACCAAGCAGAGAGTCCTGAGGCTCTGTCCACCAAGCAGAGAGTCCTG AGGCTCTGTCCACCAAGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGA GAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCAC CAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCC CTGTCCACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTC CTGAGGCTCTGTCCACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CNTN6_chr3_1088024_1409217	1245281	A A	ATATATAT others(718): Show ATATATATAATATATATATAACATATATAATATATATATAACATATATAT ATAATATATATAACATATATATATAATATATATATAACATATATATATTA TATATATATAACATATATATATAATATATATATAACATATATAATATATA TATAACATATATATAATATATATATAACATATATATAATATATATATAAC ATATATAATATATATATAACATATATATAATATATATATAACATATATAT ATTATATATATAACATATATATATTATATATATAACATATATATATTATA TATAACATATATATATAATATATATATAACATATATATATTATATATATA ACATATATATTATATATATAACATATATATTATATATATAACATATATAT TATATATATAACATATATATTATATATATAACATATATATTATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATATAATATATATAACATATATATATATAATATATATATAACAT ATATATATAATATATATATAACATATATATATAATATATATATAACATAT ATATATAATATATATATAACATATATATATAATATATATATAACATATAT ATATAATATATATATAACATATATATATAATATATATATAACATATATAT ATAATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	222	0.0045	725	c.358 others(744): Show c.358+17288_358+17289insTATATATAATATATATATAACATATA TAATATATATATAACATATATATATAATATATATAACATATATATATAAT ATATATATAACATATATATATTATATATATATAACATATATATATAATAT ATATATAACATATATAATATATATATAACATATATATAATATATATATAA CATATATATAATATATATATAACATATATAATATATATATAACATATATA TAATATATATATAACATATATATATTATATATATAACATATATATATTAT ATATATAACATATATATATTATATATAACATATATATATAATATATATAT AACATATATATATTATATATATAACATATATATTATATATATAACATATA TATTATATATATAACATATATATTATATATATAACATATATATTATATAT ATAACATATATATTATATATATAACATATATATATAATATATATATAACA TATATATATAATATATATATAACATATATATATAATATATATAACATATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TATAATATATATATAACATATATATATAATATATATATAACATATATATA TAATATATATATAACATATATATATAATATATATATAACATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
COL18A1_chr21_45400165_45518720	45500879	T T	TGTGTTGG others(718): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGGAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0046 a0001c0010t0002g0046	1	276	0.0036	725	c.268 others(744): Show c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGG GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGGAGTGTGGGGGTGTGGTTTGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE4_chr3_131528569_132040014	131978292	T T	TTTATATA others(718): Show TTTATATATATTTATATATATATTTATATATATTTATATTTATATATATA TTTATATATATTTATATTTATATATATATTTTTATATATATTTATATATA TTTATATTTATATATATATTTTTATATATATTTATATATATTTATATTTA TATTTTTATATATATTTATATATATATATTTATATATATATATTTATATA TATATTTATATATATATATTTATATATATATTTATATATTTATATATATA TATTTTTATATATTTTTATATATATATTTATATATATATATTTATATATA TATATTTATATATTTATATATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATA TTTATATATATTTATATATATATTTATATATATATATTTATATATATATA TTTATATATATATATTTATATATATATTTATATATTTATATATATTTATA TATTTATATATATTTATATATATATTTATATATTTATATATATATTTATA TATTTATATATATTTATATATATATTTATATATTTATATATATTTATATA TATTTATATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	59	0.0169	725	c.-2+ others(742): Show c.-2+56274_-2+56275insTAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATAAATATATAAATATATATATAAATATATATATATAAATA TATATATATAAATATATATATATAAATATATATATAAATATATATAAATA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATAAATATATAAATATATAAATATATA TATATAAATATATATATATAAATATATATATAAAAATATATAAAAATATA TATATATAAATATATAAATATATATATAAATATATATATATAAATATATA TATAAATATATATATATAAATATATATATATAAATATATATAAAAATATA AATATAAATATATATAAATATATATAAAAATATATATATAAATATAAATA TATATAAATATATATAAAAATATATATATAAATATAAATATATATAAATA TATATATAAATATAAATATATATAAATATATATATAAATATATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978292	T T	TTTATATA others(718): Show TTTATATATATTTATATATATATTTATATATATTTATATTTATATATATA TTTATATATATTTATATTTATATATATATTTTTATATATATTTATATATA TTTATATTTATATATATATTTTTATATATATTTATATATATTTATATTTA TATTTTTATATATATTTATATATATTTATATTTATATATATTTATATATA TATTTATATATATATTTATATATATATATTTATATATATATTTATATATA TATTTATATATATATTTATATATTTATATATATATATTTTTATATATTTT TATATATATATTTATATATATATATTTATATATTTATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATA TTTATATATATTTATATATATATTTATATATATATATTTATATATATATA TTTATATATATATATTTATATATATATTTATATATTTATATATATTTATA TATTTATATATATTTATATATATATTTATATATTTATATATATATTTATA TATTTATATATATTTATATATATATTTATATATTTATATATATTTATATA TATTTATATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	59	0.0169	725	c.-2+ others(742): Show c.-2+56274_-2+56275insTAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATAAATATATAAATATATATATAAATATATATATATAAATA TATATATATAAATATATATATATAAATATATATATAAATATATATAAATA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATATA AATATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAATATATAAATATATAAATATATATATATAAATATATATATAAA AATATATAAAAATATATATATATAAATATATAAATATATATATAAATATA TATATAAATATATATATAAATATATATATATAAATATATATATAAATATA TATATAAATATATATAAATATAAATATATATAAATATATATAAAAATATA AATATAAATATATATAAATATATATAAAAATATATATATAAATATAAATA TATATAAATATATATAAAAATATATATATAAATATAAATATATATAAATA TATATATAAATATAAATATATATAAATATATATATAAATATATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(718): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGACGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGA GGACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAGC CTATTAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATGA AATGGGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGCA GTGGCTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(35): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG01081.hp2 HG01192.hp1 HG02129.hp1 HG02155.hp2 HG02258.hp2 HG02523.hp1 HG02818.hp2 HG03453.hp2 HG03540.hp2 HG03704.hp1 HG04115.hp2 NA18939.hp1 NA18947.hp2 NA18952.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19058.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0060 a0001c0001t0073 a0001c0001t0077 a0001c0001t0081 a0001c0002t0006	a0001c0001t0001g0148 a0001c0001t0002g0007 a0001c0001t0002g0129 others(34): Show a0001c0001t0001g0148 a0001c0001t0002g0007 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0014g0285 a0001c0001t0014g0286 a0001c0001t0016g0237 a0001c0001t0016g0244 a0001c0001t0016g0255 a0001c0001t0017g0307 a0001c0001t0017g0324 a0001c0001t0017g0325 a0001c0001t0038g0217 a0001c0001t0038g0219 a0001c0001t0039g0226 a0001c0001t0044g0292 a0001c0001t0044g0293 a0001c0001t0047g0342 a0001c0001t0048g0344 a0001c0001t0060g0091 a0001c0001t0073g0216 a0001c0001t0077g0265 a0001c0001t0081g0275 a0001c0002t0006g0043	38	308	0.1234	725	c.26 others(736): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGG GACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATA GCTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTCT GCCTGACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAAC GACGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCCTT GAGGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGGAA TGTCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTGA GCCCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGGG ATGAGCACGTCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGGGT CTTGTCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGACTT GTGTCTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACTC CTGAGGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(718): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGATGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGA GGACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAGC CTATTAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATGA AATGGGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGCA GTGGCTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02965.hp1 HG03130.hp1 others(2): Show HG02723.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0051 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0051 a0001c0001t0063	a0001c0001t0002g0130 a0001c0001t0002g0150 a0001c0001t0016g0249 others(2): Show a0001c0001t0002g0130 a0001c0001t0002g0150 a0001c0001t0016g0249 a0001c0001t0051g0015 a0001c0001t0063g0196	5	275	0.0182	725	c.26 others(736): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGG GACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATA GCTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTCT GCCTGACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAAC GACGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCCTT GAGGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGGAA TGTCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTGA GCCCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGGG ATGAGCACATCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGGGT CTTGTCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGACTT GTGTCTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACTC CTGAGGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(718): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGACGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGGGAGG AGGAGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGAGG AGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGG AGGGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAG GGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAG GAGGAGGAGGAGGGAGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAAGGAGG AGGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0008 a0008	a0008c0181 a0008c0181	a0008c0181t0001 a0008c0181t0001	a0008c0181t0001g0234 a0008c0181t0001g0234	1	214	0.0047	725	c.118 others(744): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCT CCTCCTTCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCTCCCTCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCCCT CCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCT CCTCCCTCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCT CCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCT CCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCGTCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(718): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGACGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGG GAGGAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGA GGAGGGGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGA GGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGA GGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGA GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGAGGAG GAGGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGAG GGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0129 a0001c0129	a0001c0129t0001 a0001c0129t0001	a0001c0129t0001g0162 a0001c0129t0001g0162	1	214	0.0047	725	c.118 others(744): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCC CTCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCCTC CTCCTCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTC TCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTC CTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCC TCCCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCCCCTCC TCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCGTCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(718): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAG GAGGGGGGAGGAGGAGGGGGGAGAGGAGGAGGGAGGAGGAGGGAGGAGGA GGGGGAGGAGGAGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGAGGG AGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGA GGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGAGAGGAGGGAAGGAGGAGG GAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAG GAGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0225 a0001c0008t0001g0225	1	98	0.0102	725	c.118 others(744): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTC CTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTC CCTCCTCCTTCCCTCCTCTCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCT CCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCC TCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCT CCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCCTCCTCCTCCCCC TCCTCCTCCCTCCTCCTCCCTCCTCCTCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
ELP4_chr11_31504767_31795324	31581473	T T	TAAAAATA others(718): Show TAAAAATAACTTTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACA CTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGC GATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCA TTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACAC ATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGA ACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCAC ATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATC CTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTAT CGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAAT TGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGG ACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAATAAAAAAAATAAAAAAATAAAAAAACAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	265	0.0038	725	c.382 others(744): Show c.382-13284_382-13283insCTGGAGAGGATGCGGAGAAATAGGAA CACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAG TCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCC AGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCT ATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCA AAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAA AATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATG AGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGG GAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAAAAAATAAAAAAAATAAAAAAATA AAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAACTTTG	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
FLT3_chr13_27998274_28105576	27998959	A A	ATATATAT others(718): Show ATATATATTTATATACATATAAATATATATGTATATACATATAAATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATATATATATGTATATACATATAAATATATATGTATATACATATAT ATATGTATATACATATATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATGTATATACATATAAATATATATGTATATACATAT AAATATATATGTATATACATATAAATATATATGTATGTATATTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATTTATATGTATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATATT TATATATATATAAATATATATTTACATACATATAAATATATATTTACATA CATATAAATATATACATTTATATACATATAAATATATACATATATACATA TAAATATATATTTATATACATATAAATATATATATTTATATATATTTATA TATATATAAATATATATATATTTGTATATATATATAAATATATATATATT TATATATATATAAATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	277	0.0036	725	c.50 others(736): Show c.5092_*5093insAATATATATATATTTATATATATATAAATATATA TATATTTATATATATATACAAATATATATATATTTATATATATATAAATA TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TATGTATATATTTATATGTATATAAATGTATATATTTATATGTATGTAAA TATATATTTATATGTATGTAAATATATATTTATATATATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATTTATATACATATAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATATTTATATGTATATA ATATACATACATATATATTTATATGTATATACATATATATTTATATGTAT ATACATATATATTTATATGTATATACATATATTTATATGTATATACATAT ATATTTATATGTATATACATATATATATATGTATATACATATATATATGT ATATACATATATATTTATATGTATATACATATATATATATGTATATACAT ATATATTTATATGTATATACATATATATTTATATGTATATACATATATTT ATATGTATATACATATATATTTATATGTATATAAATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4314		chr13	TogoVar
FOXK2_chr17_82514732_82609602	82586498	G G	GCGGGGGG others(718): Show GCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGC AGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGA GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGA GAGGGGGGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAG GGGGGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGG GGACCACAGGGAGGTGAAAGGTAGGC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	272	0.0037	725	c.157 others(742): Show c.1576+299_1576+300insGGGGGGGAATGGAGGAGAGGGGAGACCA CAGGGAAGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCAGTGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGG GCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CAGTGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTAGGCC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(718): Show CAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACAC CAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAA AAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTG AGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATA TGGTAAGACCCTATTATCTACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	44	0.0227	725	c.-31 others(736): Show c.-3105_-3104insTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTGT AGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGC TCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCAC CCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTTG TAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGG CTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCA CCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTGTAGATAATGG GGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAAT CCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCA CGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3096		chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(718): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTTA TTTTTTTTATTTATTTTATTTATTTTATTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0086 a0001c0003t0033g0086	1	207	0.0048	725	c.41- others(740): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAATAAAATAAATAAAATAAATAAAAAAAATAAA AAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(718): Show TAATATATATATATATGGAATATATATATACGGAATGTATATATAATATA TATATGGAATATATATATACGGAATGTATATATAATATATATACGGAATA TATATATACGGAATGTATATATAATATATATACGGAATATATATATACGG AATGTATATATAATATATATACGGAATATATATATACGGAATGTATATAT AATATATATACGGAATGATATATATAACGGAATGTATATATAATATATAT ACGGAATATATATATACGGAATGTATATATAATATATATACCGGAATATA TATATACGGAAATGTATATATAATATATATACGGAATATATATATACGGA ATGTATATATAATATATATACGGAATATATATATACGGAATGTATATATA AATATATATACGGAATATATATATACGGAATGTATATATAATATATATAC GGAATATATATATACGGAATGTATATATAATATATATACGGAATATATAT ATACGGAATGTATATATAATATATATACGGAATGTATATATACGGAATGT ATATATATGGAATATATATACGGAATGTATATATATGGAATGTATATATA TGGAATATATATATGGAATGTATATATATGGAATATATATGGAATGTATA TATATGGAATATATATATGGAATGTATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	62	0.0161	725	c.-21 others(736): Show c.-2147_-2146insAATATATATATATATGGAATATATATATACGGAA TGTATATATAATATATATATGGAATATATATATACGGAATGTATATATAA TATATATACGGAATATATATATACGGAATGTATATATAATATATATACGG AATATATATATACGGAATGTATATATAATATATATACGGAATATATATAT ACGGAATGTATATATAATATATATACGGAATGATATATATAACGGAATGT ATATATAATATATATACGGAATATATATATACGGAATGTATATATAATAT ATATACCGGAATATATATATACGGAAATGTATATATAATATATATACGGA ATATATATATACGGAATGTATATATAATATATATACGGAATATATATATA CGGAATGTATATATAAATATATATACGGAATATATATATACGGAATGTAT ATATAATATATATACGGAATATATATATACGGAATGTATATATAATATAT ATACGGAATATATATATACGGAATGTATATATAATATATATACGGAATGT ATATATACGGAATGTATATATATGGAATATATATACGGAATGTATATATA TGGAATGTATATATATGGAATATATATATGGAATGTATATATATGGAATA TATATGGAATGTATATATATGGAATATATATATGGAATGTATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(718): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAG ACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAG CCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAG AGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGAC AGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGA AGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGG AGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAG AGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACA GGGAAGCCAGGTGGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0334 a0001c0002t0005g0334	1	77	0.0130	725	c.968 others(740): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCT GGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGT GTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(718): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCACCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC ACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCC CACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03654.hp2 HG03017.hp1 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0250 a0002c0002t0002g0288 a0002c0002t0002g0250 a0002c0002t0002g0288	2	6	0.3333	725	c.-41 others(740): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCACCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCC CCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAG CCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(718): Show CGCCCCCACAGCCGCCCCCCCCCACAGCTGCCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCC ACAGCCGCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCACAGCCACCC CCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCC CACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCA CCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACA GCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAA GCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCC ACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCC CACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	5	0.2000	725	c.-41 others(740): Show c.-41+629_-41+630insCCCCACAGCTGCCCCCCCCCACAGCCGCCC CCCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCC CACAGCCGCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCACAGCCACC CCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCC ACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCC CCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCC ACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAA AGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCC CACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAG CCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(718): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	304	0.0033	725	c.-22 others(736): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGCGACG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGAC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGAC GGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(718): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATATATTTAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT ATTTATATATATTTATGTATATTTATATATATTTATATATTTATGTATAT ATTTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGT ATTTATATATATATTTATATGTATTTATATATATTTATATATTTATATGT ATTTATACATATATATTTATATGTATTTATATATATTTATATATATTTTT TATGTATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATGTATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATT TATATATATATTTATATATATTTATATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATA TTATTTATATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	70	0.0143	725	c.125 others(742): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATATATTTATATATATTTATATATATTTATGTATATTTAT ATATATATTTATATATATTTATGTATATTTATATATATATTTATATATAT TTATGTATATTTATATATATATTTATATATATTTATGTATATTTATATAT ATTTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAA ATTTATATATATTTATATGTATTTATATATATATTTATATGTATTTATAT ATATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTAT ATATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATGTATATTTATATATATATTTATATA TATTTATATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTATTTATATATATATTTATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858998	A A	ACGGGACG others(718): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG AGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGT GGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTG TCACGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0076 a0001c0002t0001g0077	2	206	0.0097	725	c.153 others(744): Show c.1530-4293_1530-4292insAGACACCACTCACACCCATCCCGTGA CACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACC ACTCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACT CACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTGCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACA CCCCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(718): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp2 others(6): Show HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG03710.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	9	242	0.0372	725	c.-42 others(736): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCT GCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
MED16_chr19_862963_898187	871891	C C	CGGGGAGG others(718): Show CGGGGAGGGGCGGGGAGGGGCGGGGGGAGCGGAGAGGGGCGGGGGGGGAG CGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGG CGGGGGGGAGCGGGGAGGGGCGGGGAGGGGCGGGGGGGGCGGGGGGGCGG GGGGGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGGAGCGGGGAGGGGC GGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGGAGGGG CGGGGGGGAGCGGGGAGGGGCGGGGGGGGAGCGGGGAGGGGCGGGGGGGG AGCGGGGGAGGGGCGGGGGGGGGGCGGGGAGGGGCGGGGGGGGGCGGGGG GGGGCGGGGGGGGCGGGGGGGGGCGGGGGGGGGGCGGGGGGGGGCGGGGG GGGGGCGGGGGGGGCGGGGGGGGGGCGGGGGGGGCGGGGAGGGGCGGGGG GGGGGCGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGCGGGGAG GGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGG CGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGGCGGGGAGGGGC GGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGGGGGGCGGGGGGGGGGGC GGGGAGGGGCGGGGGGGGGGGCGGGGAGGGGCGGGGGGGGGGGCGGGGGG AGCGGGGGGGAGCGGGGAGGGGCGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0016 a0004c0019t0001g0016	1	6	0.1667	725	c.209 others(740): Show c.2098+34_2098+35insCTCGCCCCTCCCCGCTCCCCCCCGCTCCCC CCGCCCCCCCCCCCGCCCCTCCCCGCCCCCCCCCCCGCCCCTCCCCGCCC CCCCCCCCGCCCCCCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCCGCCC CTCCCCGCCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCCCC CCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCC CCGCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCCCCCCCCC CGCCCCTCCCCGCCCCCCCCGCCCCCCCCCCGCCCCCCCCGCCCCCCCCC CGCCCCCCCCCGCCCCCCCCCCGCCCCCCCCCGCCCCCCCCGCCCCCCCC CGCCCCCCCCCGCCCCTCCCCGCCCCCCCCCCGCCCCTCCCCCGCTCCCC CCCCGCCCCTCCCCGCTCCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCC TCCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCCC CTCCCCGCTCCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCCCCCCCGC CCCCCCGCCCCCCCCGCCCCTCCCCGCCCCTCCCCGCTCCCCCCCGCCCC TCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCC CCCCCCGCCCCTCTCCGCTCCCCCCGCCCCTCCCCGCCCCTCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(718): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAG GTGATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGA TGATGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTA GTCGAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGT GGAGGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGG AGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTA ATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGAT GGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAG AGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTA ATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGTGATGGTGGT GATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	109	0.0092	725	c.480 others(744): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCACCACCACCATCACCTTCACTACCACCACACCCT CTGCCATCACCACCACCACCATCACCTTCACTACCACCACACCCTCCACC ATCACCACCATCACTTTCACTACCACCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCACCACCACCATCACCTTCACTACCACCACACCCT CCACCATCACCACCACCACCATCATGATCATCTCCACCACCATCACCTCC ACTACCATCACCTCCACCACCACCACCATCACTACCACCATCACCTCGAC TACCATCACCACCACCACCATCACCTTCACTACCACCATCATTTCCATCA TCGCCACCACCTCCTGTCACCATCACCCCCACCACCACCATCACCATCAC CTCTATCACCATCACCTCTACCAACACCATCACCACCACCACCACCATAA CCTCTACCATCACCACTACCATCACCATCTCCACCCCCACCACCACTATC ACCACCTCCACCCCCACCATCACCACCACCACCATAACCTCTACCACCAG CACCTCCACCACCACCATCACCATCACCACCTCCATCCCCACCACCACCC CCCACCACCATCACCACCACCATCACCAGCACCACCACCACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(718): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGG GGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGG AGGGGGGGAGGGGAGGGTAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGA GGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGA GTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGA GGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGG AGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	8	0.1250	725	c.250 others(740): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCTCCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCC TTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCT TCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTG CCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTT CCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(718): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC CTGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCT GGGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGG CTGAGGCAGGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGC CGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTC TTAAAAAAAAAGAACCCATGGATTGAAACATGTTTTAATGTGTTTCAATC CAATGCAGTTGCCTTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTG TCGCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGC CTCCCGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGAC TACAGGCGCACACCACCACACACCCAGCTGATTTTTGTATTTTTAGTAGA GACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGT GATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCA TCGCGCCCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAAT TTTTGGATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGG CTCACACCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	295	0.0034	725	c.39 others(736): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGTGGTGGTGTGCGCCTGTAGTCTCAGC TACTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGT TGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGA GACTCCGTCTGAAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAA CACATTAAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGT CTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGG CAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAG CCTCCCGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATT TTGGTATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGGCTGGTC TCTAATTCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(718): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCTCTCTTCCCTCCCCTCCTC TCTTCCCCTCCCCTCCCTCTCCCCCTCCCGTCTCCCCTCCCGTCTCCCCT CCCGTCTCCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TTCCCCCTCCTCCCCTCCTCCCCTCCCTCCCCTCCTCCCCTCCCCTCCTC CCTCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCTCTCCCCTCCTCCCCT CCCCTCCTCCCTCCTCCCCTCCCCTCCTCCCCTCCCTCCCCTCCTCCTCT CCTCCCCTCCTCCCTCTCCTCCTCCTCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCTCCCTCCCTCCCCTCCTCCCCTCCTCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCTCCCCTCCCCTC CTCCCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCCCTCCCCCTCCC CTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCTCCCCTCCCCTCCCCTCCTCCTCTCCCCCTCCCCTCCTCCCCTCCCCT CTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCTCCCTCC CTCCCCTCCCCTCCCCCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0127 a0003c0003t0001g0127	1	4	0.2500	725	c.114 others(744): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCT CCTCTCTTCCCTCCCCTCCTCTCTTCCCCTCCCCTCCCTCTCCCCCTCCC GTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCCTCCCGTCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTTCCCCCTCCTCCCCTCCTCCCCTCCCTC CCCTCCTCCCCTCCCCTCCTCCCTCTCCCTCCCCCTCCTCCCCTCCCCTC CTCCCTCTCCCCTCCTCCCCTCCCCTCCTCCCTCCTCCCCTCCCCTCCTC CCCTCCCTCCCCTCCTCCTCTCCTCCCCTCCTCCCTCTCCTCCTCCTCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCTCCCTCC CTCCCCTCCTCCCCTCCTCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCTCCCCTCCCCTCCTCCCTCCTCCCCTCCTCTCCCCTCTCCT CCCCTCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCC CCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCC CTCCCCTCCCATCCTCCCTCCCTCCCCTCCCCTCCCCCCTCCTCCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(718): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTC TTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCTCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCTCCTCTCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCT CCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCT CCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	4	0.2500	725	c.114 others(744): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCC TCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTC TCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCTCCCCTCCTCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCC TCTCCCCTCCCCTCCTCCCCTCCCTCTCCTCCTCCCCTCCCCTCTCCTCC TCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(718): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTA CCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00673.hp2 others(19): Show HG00597.hp1 HG00597.hp2 HG00673.hp2 HG01257.hp2 HG01258.hp2 HG01516.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG03669.hp2 HG04204.hp2 NA18942.hp2 NA18943.hp1 NA18960.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA19004.hp1 NA19068.hp2 NA19079.hp2 NA20752.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0001 a0002c0003t0001 a0002c0006t0001	a0002c0003t0001g0004 a0002c0003t0001g0159 a0002c0003t0001g0160 others(2): Show a0002c0003t0001g0004 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0200 a0002c0006t0001g0010	22	267	0.0824	725	c.-8+ others(738): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAT others(718): Show TTCCATATATATACATACATGGTATATATTCCATATATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATATACAT ACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATAT ACATACATGGTATATATTCCTATATATACATACATGGTATATATTCCATA TATATATATACATACATGGTATATATACATACATGGTATATATTCCTATA TATACATACATGGTATATATTCCATATATATATACATACATGGTATATAT TCCATATATATACATACATGGAATATATATATTCCATATATACATATATA TATTCCATATATACACATATATATATTCCATATATACACATATACATGGA ATATATATCTGTATATATATGGAATATATATATATGTATATATATGGAAT ATATATGTATATGTATTTATATTATGTATTTATATTATAAATATATATTA TGTATATATATTTATATTATAAATATATATTATGTATATATATTTATATT ATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGTA TATATATTTATATTATAAATATATATTATGTATATATATTTATATTATAA ATATATATTATGTATATATATTTATATTATAAATATATATTATGTATATA TATTTATATTATAAATATATATTATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0027 a0001c0001t0021g0027	1	36	0.0278	725	c.474 others(744): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATACATACATGGTATATATTCCTATATAT ACATACATGGTATATATTCCATATATATATATACATACATGGTATATATA CATACATGGTATATATTCCTATATATACATACATGGTATATATTCCATAT ATATATACATACATGGTATATATTCCATATATATACATACATGGAATATA TATATTCCATATATACATATATATATTCCATATATACACATATATATATT CCATATATACACATATACATGGAATATATATCTGTATATATATGGAATAT ATATATATGTATATATATGGAATATATATGTATATGTATTTATATTATGT ATTTATATTATAAATATATATTATGTATATATATTTATATTATAAATATA TATTATGTATATATATTTATATTATAAATATATATTATGTATATATATTT ATATTATAAATATATATTATGTATATATATTTATATTATAAATATATATT ATGTATATATATTTATATTATAAATATATATTATGTATATATATTTATAT TATAAATATATATTATGTATATATATTTATATTATAAATATATATTATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar

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