Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CXorf51B_chrX_146804771_146815411	146812210	T T	TATATATG others(627): Show TATATATGTATATACACACATATATACACACATATGTGTACATATATGTG TATATACGTATATACACATATATATGTGTACATATATGTGTATATATGTA TATACACACATATATGTGTACATATATGTGTGTATATGTATATACACATA TATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTG TATATACACACACATATACACACATATATGTACACATATATATGTGTATA TACATATATACACATATATATGTGTATATACATATATACACATATATGTA CACATATATATGTGTATATACATATATACACATATATGTACACATATATA TGTGTATATACGTATATACACATATATGTACACATATGTGTGTATATATG TGTGTATATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATA TACATATATGTGTATATACACACACATATACACACATATATGTACACAAA TATATGTGTATATACATATATACACATATATATGTGTATATACATATATA CACATATATGTACACATATATATGTGTATATACGTATATACACATATATG TACACATATGTGTGTGTATATATGTGTGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	270	0.0037	634	c.19 others(645): Show c.1902_*1903insATATATGTATATACACACATATATACACACATAT GTGTACATATATGTGTATATACGTATATACACATATATATGTGTACATAT ATGTGTATATATGTATATACACACATATATGTGTACATATATGTGTGTAT ATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTGT ATATACATATATGTGTATATACACACACATATACACACATATATGTACAC ATATATATGTGTATATACATATATACACATATATATGTGTATATACATAT ATACACATATATGTACACATATATATGTGTATATACATATATACACATAT ATGTACACATATATATGTGTATATACGTATATACACATATATGTACACAT ATGTGTGTATATATGTGTGTATATACATATATGTGTACATATATGTGTGT ATATGTGTGTGTATATACATATATGTGTATATACACACACATATACACAC ATATATGTACACAAATATATGTGTATATACATATATACACATATATATGT GTATATACATATATACACATATATGTACACATATATATGTGTATATACGT ATATACACATATATGTACACATATGTGTGTGTATATATGTGTGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1800		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(627): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTATATATG TATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTATATA TACATATATGTGTATATACGTATATACACATGTGTATATACGTATATACA CACATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATA TGTGTATATACGTATATACACATGTGTATATACGTATATACACACATATA TGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATA TACGTATATACACATATATGTGTACATATATGTGTGTATATGTGTGTATA TACATATATGTGTATATACATATATACACATATATATGTGTGTATATGTG TGTGTATATACATATATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	119	0.0168	634	c.19 others(645): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATATGTGTATATATGTATATACACATAT ATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGTGT ATATGTGTGTATATATACATATATGTGTATATACGTATATACACATGTGT ATATACGTATATACACACATATATGTGTACATATATGTGTGTATATGTGT GTGTATATACATATATGTGTATATACGTATATACACATGTGTATATACGT ATATACACACATATATGTGTACATATATGTGTGTATATGTGTGTGTATAT ACATATATGTGTATATACGTATATACACATATATGTGTACATATATGTGT GTATATGTGTGTATATACATATATGTGTATATACATATATACACATATAT ATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
DPEP1_chr16_89608642_89643433	89619039	T T	TGCTCCCC others(627): Show TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	155	0.0065	634	c.-10 others(653): Show c.-107+5337_-107+5338insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTC CCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EGF_chr4_109907883_110018766	109921253	T T	TAGAAACT others(627): Show TAGAAACTTCAGTTGTTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATT CCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTAC TGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATGC ACACGTATGTTTATTGCAGCATTATTCACAATAGCAAAGACTTGGAACCA ACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATAT ACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTT GTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCA AGAACAAAAAACCAAACACCGCATATTCTGACTCATAGGTGGGAATTGAA CAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTG TGGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAAT GCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTA TAATAAAAATAATTTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0229 a0001c0001t0014g0229	1	335	0.0030	634	c.127 others(651): Show c.127+7807_127+7808insAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCAGCATTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCGCATATTCTGACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAATAATTTAAAAAAAAAAAAAAAAAAAAAGAAACTTCA GTTGTT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIT_chr3_59742277_61256452	60861241	C C	CTGATATA others(627): Show CTGATATATATGATATATATCATATCTGATATATATGATATATATCATAT CTGATATATATGATATATATCATATCTGATATATATGATATATATCATAT CTGATATATGATATATATCATATCTGATATATGATATATATCATATCTGA TATATGATATATATCATATCTGATATATATGATATATATCATATCTGATA TATATGATATATATCATATCTGATATATATGATATATATCATATCTGATA TATATGATATATATCATATCTGATATATATGATATATATCATATCTGATA TATATGATATATATCATATATGATATATGATATATATCATATCATATATG ATATATGATATATATCATATCATATATGATATATGATATATATCATATCA TATATGATATATGATATATATCATATCATATATGATATATGATATATATG ATATATCATATCATATATGATATATGATATATATGATATATCATATCATA TATGATATATGATATATATGATATATCATATCATATAATATATGATATGA TATGATATGATATATATGATATATCATATCATATAATATATGATATATAT GATATATATCATATATCATATATATAATATATGAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	33	0.0303	634	c.-11 others(655): Show c.-110-39231_-110-39230insATCATATATTATATATATGATATA TGATATATATCATATATATCATATATTATATGATATGATATATCATATAT ATCATATCATATCATATCATATATTATATGATATGATATATCATATATAT CATATATCATATATGATATGATATATCATATATATCATATATCATATATG ATATGATATATCATATATATCATATATCATATATGATATGATATATATCA TATATCATATATGATATGATATATATCATATATCATATATGATATGATAT ATATCATATATCATATATGATATGATATATATCATATATCATATATGATA TATATCATATATATCAGATATGATATATATCATATATATCAGATATGATA TATATCATATATATCAGATATGATATATATCATATATATCAGATATGATA TATATCATATATATCAGATATGATATATATCATATATATCAGATATGATA TATATCATATATCAGATATGATATATATCATATATCAGATATGATATATA TCATATATCAGATATGATATATATCATATATATCAGATATGATATATATC ATATATATCAGATATGATATATATCATATATATCAGATATGATATATATC ATATATATCA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(627): Show TTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCC ACTTCCTTTCGGAGCACTGGGGCCCGCCGGTCACCTCCCTTCTCCACTTC CGAAATCCACTTCCTTTCGGAGCACTGGGCCCACCGGTCACCTCCCTTCT CCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTT CCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTT TGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGC ACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGG CCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTG CCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACT GGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTT TGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCA CTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCC TTTCGGAACACTGTGGCCCCGCTGGTCAACTCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0344 a0002c0002t0001g0344	1	302	0.0033	634	c.321 others(651): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACC AGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGG GCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAG TGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTC CAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAG GAAGTGGAGAAGGGAGGTGACCGGTGGGCCCAGTGCTCCGAAAGGAAGTG GATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGAA AGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAG TGGAGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(627): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTG GGGGAAAGGAGGAGAGGGGCGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAATGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	215	0.0047	634	c.157 others(649): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAAGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGCGACCACAGGGAGGTCAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC AGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAG TGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GPR173_chrX_53043789_53085615	53073915	A A	ATATATAT others(627): Show ATATATATTTATATTTATTTATATATATAAATATATATATTTATATTTAT TTATATATATAAATATATATATTTATATTTATATATATATATAAATATAT ATATTTATATATATATATAAATATATATATTTATATTTATTTATATATAT AAATATATATATTTATATTTATTTATATATATATAAATATATATATTTAT ATTTATATTTATATATTTATATTTATATATATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTAATATATATTTATATATATAAAT ATATATATTTATATATAAATATATATTTATGTATATTTATATATAAATAT ATATATTTATATATATAAATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATAAATATATATATTTATATATAAATATATATAT TTATATATATATTTATATATAAATATATATATTTATATATAAATATATAT ATTTATATATATAAATATATATATTTATATATATAAATATATATATATTT ATATTTACAAATATATATATTTATATATATATTTATATTTATATATATTT ATATTTATATATATATATATAAATATATATTTATG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	198	0.0051	634	c.-97 others(651): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(627): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0126 a0002c0003t0001g0126	1	233	0.0043	634	c.127 others(653): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTT CTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KIF25_chr6_167992671_168050091	167997407	G G	GGGGTCGG others(627): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGGGCGGGGGAATCTGCAGAGATGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGG GGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGG GGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	364	0.0027	634	c.-20 others(645): Show c.-2062_-2061insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTG CAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCA GAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAG AGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		263		chr6	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(627): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATAATATAT ATTATATATAATATATTATATATTATATATTATATATATAATATATTATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATATTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATATTATATATTATATATACAATTAT ATATATTATATATATTATATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATTATATA TTATATATTATATAATATATTATATATTATATATATTATATATTATATAT TATATATTATATATATAATATATATTATATATTATATATTATATATATTA TATATATTATATATATTATATATAATATATATAATTGTATATATAATATA TAATATATAATATATATAATATATAATATATAATATATAATATATATAAT ATATTATATATAATATATAATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	78	0.0128	634	c.683 others(653): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATAATATATATTATATATAATATATTATATATTATATATTAT ATATATAATATATTATATATTATATATTATATATATATTATATTATATAT TATATATAATTATATATATATTATATATTATATATTATATATTATATATT ATATATTATATATATTATATATTATATATTATATATTATATATATTATAT ATTATATATACAATTATATATATTATATATATTATATATTATATAATATA TTATATATATAATATATATTATATATTATATATTATATAATATATTATAT ATATAATATATTATATATTATATATTATATAATATATTATATATTATATA TATTATATATTATATATTATATATTATATATATAATATATATTATATATT ATATATTATATATATTATATATATTATATATATTATATATAATATATATA ATTGTATATATAATATATAATATATAATATATATAATATATAATATATAA TATATAATATATATAATATATTATATATAATATATAATATATAATATATA TAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(627): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATATTATAT ATTATATATAATATATTATATATTATATATTATATATATAATATATTATA TATTATATATATATTATATTATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATATTATATATTA TATATTATATATTATATATATTATATATTATATATACAATTATATATATT ATATATATTATATATTATATAATATATTATATATATAATATATATTATAT ATTATATATTATATAATATATTATATATATAATATATTATATATTATATA TTATATAATATATTATATATTATATATATTATATATTATATATTATATAT TATATATATAATATATATTATATATTATATATTATATATATTATATATAT TATATATATTATATATAATATATATAATTGTATATATAATATATAATATA TAATATATATAATATATAATATATAATATATAATATATAATATATATAAT ATATTATATATAATATATAATATATAATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	78	0.0128	634	c.683 others(653): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATAATATATTATATATTATATATTAT ATATATAATATATTATATATTATATATATATTATATTATATATTATATAT AATTATATATATTTTATATATTATATATTATATATTATATATTATATATT ATATATATTATATATTATATATTATATATTATATATATTATATATTATAT ATACAATTATATATATTATATATATTATATATTATATAATATATTATATA TATAATATATATTATATATTATATATTATATAATATATTATATATATAAT ATATTATATATTATATATTATATAATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATAATATATATTATATATTATATATT ATATATATTATATATATTATATATATTATATATAATATATATAATTGTAT ATATAATATATAATATATAATATATATAATATATAATATATAATATATAA TATATAATATATATAATATATTATATATAATATATAATATATAATATATA TAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(627): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATATTATAT ATTATATATAATATATTATATATTATATATTATATATATAATATATTATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATATTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATATTATATATTATATATACAATTAT ATATATTATATATATTATATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATTATATA TTATATATTATATAATATATTATATATTATATATATTATATATTATATAT TATATATTATATATATAATATATATTATATATTATATATTATATATATTA TATATATTATATATATTATATATAATATATATAATTGTATATATAATATA TAATATATAATATATATAATATATAATATATAATATATAATATATATAAT ATATTATATATAATATATAATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	78	0.0128	634	c.683 others(653): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATAATATATTATATATTATATATTAT ATATATAATATATTATATATTATATATTATATATATATTATATTATATAT TATATATAATTATATATATATTATATATTATATATTATATATTATATATT ATATATTATATATATTATATATTATATATTATATATTATATATATTATAT ATTATATATACAATTATATATATTATATATATTATATATTATATAATATA TTATATATATAATATATATTATATATTATATATTATATAATATATTATAT ATATAATATATTATATATTATATATTATATAATATATTATATATTATATA TATTATATATTATATATTATATATTATATATATAATATATATTATATATT ATATATTATATATATTATATATATTATATATATTATATATAATATATATA ATTGTATATATAATATATAATATATAATATATATAATATATAATATATAA TATATAATATATATAATATATTATATATAATATATAATATATAATATATA TAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(627): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATACATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	64	0.0156	634	c.125 others(651): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATACATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(627): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01261.hp1 others(7): Show HG00099.hp1 HG00639.hp2 HG01261.hp1 HG02129.hp2 HG02132.hp2 HG02683.hp2 HG03688.hp1 HG03704.hp2 HG06807.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0001 a0002c0002t0016	a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0139 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0217 a0002c0002t0001g0038 a0002c0002t0001g0081 a0002c0002t0001g0176 a0002c0002t0001g0207 a0002c0002t0016g0051	10	73	0.1370	634	c.125 others(651): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(627): Show ATATATTTATATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAG TTATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATAT TTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTAT AGTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATAT ATAGTTATATATATATTTATATATATAGTTATATATTTATATATATTTAT ATATATTTATATATATATTTATATATTTATTTATATATATTTATATATGT ATTTATATATATTTATATATATTTATATGTATTTATATATATTTATATAT ATTTATATATATATATATAAATATATTTATATATATAAATATAAATATTT ATATATATTTATATATATTTATATATATATTTATGTATATTTATATATAT TTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19081.hp2 NA18942.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0175 a0001c0001t0003g0199 a0001c0001t0001g0175 a0001c0001t0003g0199	2	81	0.0247	634	c.125 others(651): Show c.125+9673_125+9674insATTTATATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATATATTTTTATATATATTTAT ATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTT ATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTT ATATATATAGTTATGTATAGTTATATATATAGTTATATATATATATTTTT ATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATAT ATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATAT ATATATATTTTTATATATATAGTTATATATATATTTATATATATAGTTAT ATATTTATATATATTTATATATATTTATATATATATTTATATATTTATTT ATATATATTTATATATGTATTTATATATATTTATATATATTTATATGTAT TTATATATATTTATATATATTTATATATATATATATAAATATATTTATAT ATATAAATATAAATATTTATATATATTTATATATATTTATATATATATTT ATGTATATTTATATATATTTATATATATATTTATGTATATTTATATATGT ATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(627): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCTC CCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCCTCC CCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCT TCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCC CCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCC CTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCC TCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCC TCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCC CTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTG CCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCC CACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCC CCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp2 HG01261.hp1 others(10): Show HG00639.hp2 HG01255.hp2 HG01261.hp1 HG01891.hp1 HG02280.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03209.hp1 HG03540.hp1 HG03831.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0025 a0002c0002 others(2): Show a0001c0001 a0001c0025 a0002c0002 a0002c0009 a0002c0012	a0001c0001t0003 a0001c0025t0010 a0002c0002t0003 others(2): Show a0001c0001t0003 a0001c0025t0010 a0002c0002t0003 a0002c0009t0001 a0002c0012t0001	a0001c0001t0003g0029 a0001c0001t0003g0192 a0001c0025t0010g0047 others(10): Show a0001c0001t0003g0029 a0001c0001t0003g0192 a0001c0025t0010g0047 a0001c0025t0010g0229 a0002c0002t0003g0009 a0002c0002t0003g0084 a0002c0002t0003g0106 a0002c0009t0001g0236 a0002c0012t0001g0012 a0002c0012t0001g0104 a0002c0012t0001g0145 a0002c0012t0001g0147 a0002c0012t0001g0271	13	20	0.6500	634	c.115 others(651): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTC CTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCC TCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTC CCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCC TCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTC CCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCC CCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGC CCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTC CCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGC TTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCT CCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTC TCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCCC CTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(627): Show AAGGGGGGAAGGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAG GAGGGGGATGGAGGAAGGCGGAAAGGGGGGAGGGGAGAAGGGGAGGGGCA GGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAG GGGGAAAGGGGTGGGGGGAAGGGGGGGAAGGGGAAAGGGGTGAGGGGAAG GGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGAGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGG GGGGAAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGA GGGGAGGGGGGGAGGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAGGGGGAGTGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGG GGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0261 a0002c0002t0002g0261	1	8	0.1250	634	c.250 others(649): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCACTCCCCCTCCCT CCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACT CCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCCC TCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT TCCCCCCTACCCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTT CCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCCTTCCCCCCACCCCTT TCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCT CCCCCTGCCCCTCCCCTTCTCCCCTCCCCCCTTTCCGCCTTCCTCCATCC CCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCCTTCCC CCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AAAGGGAG others(627): Show AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGA AAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAG AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAA GGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0204 a0001c0007t0002g0204	1	131	0.0076	634	c.225 others(651): Show c.225-2158_225-2157insAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGG GAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(627): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCT CCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTC CCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	4	0.2500	634	c.114 others(653): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCC CCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCC CTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCT CCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(627): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTATATATATTTTTATATATATAAAATCTTAT TTTATATATTATATATATATAAAATCTTATTTTATATATTATATATATAT AAAATCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0079 a0001c0001t0007g0079	1	274	0.0036	634	c.-5+ others(649): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATATAATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATATAATAT ATAAAATAAGATTTTATATATATAAAAATATATATAAATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAA AATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(627): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAT TCATATATATATGTTCATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATGTTCATATATATGTTCATATATAT ATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0229 a0001c0001t0009g0229	1	165	0.0061	634	c.394 others(649): Show c.394-586_394-585insCACACATATATATGTTCATATATATATTCA TATATATATGTTCATATATATTCATATATATGTTCATATATATATTCATA TATATGTTCATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATGTTCATATA TATA	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(627): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	165	0.0061	634	c.394 others(649): Show c.394-573_394-572insGTTCATATATATTCATATATATGTTCATAT ATATATTCATATATATGTTCATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589060	C C	CATATATA others(627): Show CATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCA TATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATGTTCATATATATATTCAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	361	0.0028	634	c.394 others(649): Show c.394-573_394-572insGTTCATATATATTCATATATATGTTCATAT ATATATTCATATATATGTTCATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(627): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAG GCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTA GGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAG GCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTA GGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01258.hp2 HG01255.hp1 HG01258.hp2	a0039 a0041 a0039 a0041	a0039c0092 a0041c0093 a0039c0092 a0041c0093	a0039c0092t0001 a0041c0093t0001 a0039c0092t0001 a0041c0093t0001	a0039c0092t0001g0177 a0041c0093t0001g0057 a0039c0092t0001g0177 a0041c0093t0001g0057	2	131	0.0153	634	c.148 others(653): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTG CTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCC CAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCAT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCT GGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCA GCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTC CATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(627): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATATAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATATAAAAATATATATATTTCAATATAAGTATATATATAAAAA TATATATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0103 a0001c0002t0003g0103	1	156	0.0064	634	c.358 others(651): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATATAAAAATATATATATTTCAATATAAGT ATATATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATAT ATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(627): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCC CCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCT TCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCC TCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCTTCCTCCCTCT CTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTTCCCTCCTTC CTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0079 a0001c0001t0018g0053 a0001c0001t0001g0079 a0001c0001t0018g0053	2	19	0.1053	634	c.153 others(651): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAG GGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGG GAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAG GGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGA GGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGG AGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGG GAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAA GGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(627): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTAGTTTAT ATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAGTTTATATAGTT TAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATA GTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTAT ATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTA AACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAA CTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTT TAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTA GTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTA GTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18990.hp2 NA18963.hp1 NA18990.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0119 a0002c0007t0001g0183 a0002c0007t0001g0119 a0002c0007t0001g0183	2	39	0.0513	634	c.342 others(653): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTAT ATAGTTTTAAACTATATAAACTATAGTTTTAAACTATATAAACTATATAG TTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTT TTAAACTATATAAACTAGTTTAAAACTATATATAAACTATATAGTTTAAA ACTATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAAC TATAAACTATATAGTTTAAAACTATATAGTTTAAAACTATAAACTATATA GTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(627): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGG GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA GTCCGGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGGAGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	59	0.0169	634	c.155 others(653): Show c.155-27627_155-27626insCCCGGACGGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCTCCCCCCCTCCCGGACGAGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCC TCCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCC CTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCC GACCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGGCCGGGCAGAGGAGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(627): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01074.hp2 others(23): Show HG00280.hp1 HG00609.hp1 HG01074.hp2 HG01081.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG02080.hp1 HG02293.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18983.hp2 NA18995.hp2 NA19004.hp2 NA19011.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0022 a0047 a0078 a0081 a0085	a0001c0002 a0001c0007 a0001c0033 others(15): Show a0001c0002 a0001c0007 a0001c0033 a0001c0048 a0001c0100 a0001c0103 a0001c0104 a0002c0003 a0002c0016 a0002c0018 a0002c0027 a0006c0057 a0022c0052 a0022c0109 a0047c0105 a0078c0123 a0081c0047 a0085c0122	a0001c0002t0001 a0001c0007t0001 a0001c0033t0001 others(15): Show a0001c0002t0001 a0001c0007t0001 a0001c0033t0001 a0001c0048t0001 a0001c0100t0001 a0001c0103t0001 a0001c0104t0001 a0002c0003t0001 a0002c0016t0001 a0002c0018t0001 a0002c0027t0011 a0006c0057t0001 a0022c0052t0001 a0022c0109t0001 a0047c0105t0001 a0078c0123t0001 a0081c0047t0001 a0085c0122t0001	a0001c0002t0001g0110 a0001c0007t0001g0034 a0001c0007t0001g0071 others(23): Show a0001c0002t0001g0110 a0001c0007t0001g0034 a0001c0007t0001g0071 a0001c0007t0001g0074 a0001c0007t0001g0111 a0001c0033t0001g0264 a0001c0033t0001g0265 a0001c0048t0001g0108 a0001c0100t0001g0119 a0001c0103t0001g0206 a0001c0104t0001g0164 a0002c0003t0001g0057 a0002c0003t0001g0092 a0002c0016t0001g0260 a0002c0016t0001g0262 a0002c0018t0001g0244 a0002c0018t0001g0252 a0002c0027t0011g0198 a0002c0027t0011g0199 a0006c0057t0001g0101 a0022c0052t0001g0100 a0022c0109t0001g0169 a0047c0105t0001g0214 a0078c0123t0001g0190 a0081c0047t0001g0095 a0085c0122t0001g0263	26	82	0.3171	634	c.25 others(645): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGT GGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTC GGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGCATGAG TGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGCATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGG GAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(627): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT TCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18970.hp2 NA18966.hp2 NA18970.hp2	a0002 a0002	a0002c0081 a0002c0124 a0002c0081 a0002c0124	a0002c0081t0001 a0002c0124t0001 a0002c0081t0001 a0002c0124t0001	a0002c0081t0001g0230 a0002c0124t0001g0243 a0002c0081t0001g0230 a0002c0124t0001g0243	2	58	0.0345	634	c.25 others(645): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGT GGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTC GGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGCATGAG TGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGCATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGG AAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PJA2_chr5_109329722_109414974	109353921	G G	GTCTATGA others(627): Show GTCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGA GATATCTATAGATTAGATATCTATATCTAGAGATATCTATAGATTAGATA TCTATGATATCTAGAGATATCTATAGATTAGATATCTATATCAAGAGATG TCTATAGATTAGATATCTATATCTAGAGATGTCTATAGATTAGATATCTA TGATATCTAGAGATGTCTATAGAGTAGATATCTATGATGTCTAGAGATTT CTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATC TATGATGTCTAGAGATATCTATAGATTAGATATCTATGATGTCTAGAGAT ATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATA TCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAG ATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGA TATCTATGCTATCTAGAGATATCTATAGATTAGATATCTGTGATATCTAG AGATATCTATAGATTGGATATCTATATCTAGAGATATCTATAGATTGGAT ATCTATGATATCTAGAGATATCTATAGATTAGATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0097 a0003c0003t0002g0097	1	325	0.0031	634	c.176 others(653): Show c.1764+1993_1764+1994insTATCTAATCTATAGATATCTCTAGAT ATCATAGATATCCAATCTATAGATATCTCTAGATATAGATATCCAATCTA TAGATATCTCTAGATATCACAGATATCTAATCTATAGATATCTCTAGATA GCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATC TATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGA TATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAA TCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATCTCTA GACATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATATCT AATCTATAGAAATCTCTAGACATCATAGATATCTACTCTATAGACATCTC TAGATATCATAGATATCTAATCTATAGACATCTCTAGATATAGATATCTA ATCTATAGACATCTCTTGATATAGATATCTAATCTATAGATATCTCTAGA TATCATAGATATCTAATCTATAGATATCTCTAGATATAGATATCTAATCT ATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGAT ATCATAGA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(627): Show TATATATAATTATATGTAATTATATATAATTATATAATTATTATATAATT GTATATAATATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATAATTATATATTATTTATTATATAATATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATATATAATTATATATTATTTATTATATAATATATAATTATA TATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTAT ATATTATGTATTATATAATTATATAATTATATATTATTTATTATATAATT ATATAATTATATATTATTTATTACATAATTATATATTATTTATTACATAA GTATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGTAT ATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTAT ATAGTTATTTATTATATAATTCTATATAGTTATTTATTATATAATTCTAT ATAATTATTTATTATCTAATTCTATATTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp2 HG01517.hp2 others(8): Show HG01074.hp1 HG01496.hp2 HG01517.hp2 HG01934.hp2 HG02647.hp1 HG02683.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0006c0020	a0001c0001t0001 a0001c0001t0014 a0001c0002t0012 others(7): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0012 a0001c0003t0001 a0001c0003t0005 a0001c0004t0005 a0001c0004t0019 a0001c0006t0002 a0001c0008t0001 a0006c0020t0004	a0001c0001t0001g0015 a0001c0001t0014g0007 a0001c0002t0012g0041 others(8): Show a0001c0001t0001g0015 a0001c0001t0014g0007 a0001c0002t0012g0041 a0001c0003t0001g0083 a0001c0003t0005g0048 a0001c0004t0005g0057 a0001c0004t0019g0058 a0001c0006t0002g0054 a0001c0008t0001g0101 a0001c0008t0001g0105 a0006c0020t0004g0071	11	35	0.3143	634	c.862 others(651): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATTATATAATTGTATATAATATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATAATTATATATTATTTATTATATA ATATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATGTA TTATATAATATATAATTATATATTATGTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTACATAATTA TATATTATTTATTACATAAGTATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAGTTATTTATTATATAATTCTATATAGTT ATTTATTATATAATTCTATATAATTATTTATTATCTAATTCTATATTATA TATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
POGLUT3_chr11_108467116_108503384	108502059	T T	TCCTGCCG others(627): Show TCCTGCCGAGCCTGCAGGTGCACCCCACCACACCTGGCTAATTTTTGTAG AAATTGTCTAATTTTCCATGTCACCAATGAATAAAAAAACGTACATAGGG TTAGACAAGATTAGATCCTATAAAATGCACAAAACTTTATTTTAATAATT TCAATAATATTTATTCAACCCACCCTTTATATCATGACTTTATGGCATGC ATTATGCAAGGTATTGGGTATATAAACTCAGTCCCTGCCCTTCCATGTAT TACAGTCTATAGGGTACATTTTAGACTGTGAGACTATTGGTTTAAATATT AACTTCCATCCAGAACCAATTTCCTCCAAAACATTCCACCTTGAAACAAT CAATTGTGCCCAGATTCTTAGGTTGTATAAGAACATTGATTCTTCCACAG TCAACATATGGCCTGAAGGGAGGGGATGTCATATACCCAATACCTTGCAT AATGCATGCCATAAAGTCATGATATAAAGGGTGGGTTGAATAAATATTAT TGAAATTATTAAAATAAAGTTTTGTGCATTTTATAGGATCTAATCTTGTC TAACCCTATGTACGTTTTTTTATTCATTGGTGACATGGAAAATTAGACAA TTTCTACAAAAATTAGCCAGGTGTGGTGGGGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	342	0.0029	634	c.-36 others(645): Show c.-3694_-3693insTGCACCCCACCACACCTGGCTAATTTTTGTAGAA ATTGTCTAATTTTCCATGTCACCAATGAATAAAAAAACGTACATAGGGTT AGACAAGATTAGATCCTATAAAATGCACAAAACTTTATTTTAATAATTTC AATAATATTTATTCAACCCACCCTTTATATCATGACTTTATGGCATGCAT TATGCAAGGTATTGGGTATATGACATCCCCTCCCTTCAGGCCATATGTTG ACTGTGGAAGAATCAATGTTCTTATACAACCTAAGAATCTGGGCACAATT GATTGTTTCAAGGTGGAATGTTTTGGAGGAAATTGGTTCTGGATGGAAGT TAATATTTAAACCAATAGTCTCACAGTCTAAAATGTACCCTATAGACTGT AATACATGGAAGGGCAGGGACTGAGTTTATATACCCAATACCTTGCATAA TGCATGCCATAAAGTCATGATATAAAGGGTGGGTTGAATAAATATTATTG AAATTATTAAAATAAAGTTTTGTGCATTTTATAGGATCTAATCTTGTCTA ACCCTATGTACGTTTTTTTATTCATTGGTGACATGGAAAATTAGACAATT TCTACAAAAATTAGCCAGGTGTGGTGGGGTGCACCTGCAGGCTCGGCAGG	POGLUT3	ENSG00000178202.14	transcript	ENST00000323468.10	protein_coding		3676		chr11	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(627): Show AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0068 a0002c0004t0004g0068	1	210	0.0048	634	c.227 others(651): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCT CTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(627): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0216 a0002c0004t0004g0216	1	210	0.0048	634	c.227 others(651): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCT CTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2123740	A A	AGGGTCAT others(627): Show AGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGCGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTAT AGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTATTTAGGGTC ACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0262 a0001c0003t0001g0262	1	275	0.0036	634	c.335 others(653): Show c.335-11516_335-11515insTGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGCGGTAGTTAGGGTCGTG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGT GGTAGTTATTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROBO2_chr3_77035099_77654964	77293869	T T	TATGAAGT others(627): Show TATGAAGTAAAATTGATGGTTAAACGGGTAGGCTGAGTCTAGATCACCCC AGATGTAAAGTAAAATTGACGGCTAAACGAGTAAGCTGAGGCTAGATCAC CCCAGACATAAAGTAAAACTGATGGTTAAACGGGAAGTTGAGGCTAGAAC AGTAAAGACATAAAGTAAAATTGATGGTTAAATGGGTAAGCTGAGGCTAG AGCACTAAAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGC TAGATCACCCCAGACATAAAGTAAAATTGATCGTTAAACGAGTAAGCTGA GGCTAGATCACCCCAGACATAAAGCAAAATTGACGGTTAACCGGGAAGGC TGAGGCTAGATCACCCCAGACGTAAAGTAAAATTGACGGTTAAATGGGTA AGCTGAGGCTACATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGG GTAAGCTGAGGCTAGATCACCCCAGACATGAAGTAAAATTGATAGTTAAA CGGGTAGGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTT AAAAGGGTAGGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATG GTTAAACGGGAAGGTGAGGCTAGAGCAGTAAAGAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 NA19043.hp1 HG01106.hp1 HG01243.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0037 a0001c0001t0011 a0001c0001t0017 a0001c0001t0037	a0001c0001t0011g0053 a0001c0001t0017g0085 a0001c0001t0037g0011 a0001c0001t0011g0053 a0001c0001t0017g0085 a0001c0001t0037g0011	3	160	0.0188	634	c.389 others(655): Show c.389-183545_389-183544insATGAAGTAAAATTGATGGTTAAAC GGGTAGGCTGAGTCTAGATCACCCCAGATGTAAAGTAAAATTGACGGCTA AACGAGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAACTGATGG TTAAACGGGAAGTTGAGGCTAGAACAGTAAAGACATAAAGTAAAATTGAT GGTTAAATGGGTAAGCTGAGGCTAGAGCACTAAAGACATAAAGTAAAATT GACGGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAA ATTGATCGTTAAACGAGTAAGCTGAGGCTAGATCACCCCAGACATAAAGC AAAATTGACGGTTAACCGGGAAGGCTGAGGCTAGATCACCCCAGACGTAA AGTAAAATTGACGGTTAAATGGGTAAGCTGAGGCTACATCACCCCAGACA TAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAG ACATGAAGTAAAATTGATAGTTAAACGGGTAGGCTGAGGCTAGATCACCC CAGACATAAAGTAAAATTGATGGTTAAAAGGGTAGGCTGAGGCTAGATCA CCCCAGACATAAAGTAAAATTGATGGTTAAACGGGAAGGTGAGGCTAGAG CAGTAAAGAC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
RPH3AL_chr17_207389_357807	305014	G G	GGGGACAG others(627): Show GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCAAGA GGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGG ACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGG GCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGACAGGGCG AGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0003 a0004c0013t0003	a0004c0013t0003g0036 a0004c0013t0003g0036	1	128	0.0078	634	c.351 others(653): Show c.351+14405_351+14406insTCCCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCC CCCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC TCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCC CTGTCCCCCTCTTGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(627): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATATTCCATATATATATATATTCCATATATA TATATATATTCCATATATATATATATTCCATATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATATTC CATATATATATATATTCCATATATATATATATATTCCATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATATTC CATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	283	0.0035	634	c.115 others(651): Show c.115-2552_115-2551insTATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATATGGAATATATAT ATATATGGAATATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATATGGAATATATATATATATGGAAT ATATATATATATATGGAATATATATATATATGGAATATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(627): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATAATATATATATTGTATATATTATATATTGTATATATAA TATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02572.hp2 HG01167.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0123 a0001c0004t0001g0024 a0001c0004t0001g0123	2	47	0.0426	634	c.176 others(651): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATATATTATATATACAATATATAATATATACAATATAT ATATTATATATACAATATATAATATATACAATATATATATTATATATACA ATATATAATATATACAATATATAATATATACTATATATATTATATACAAT ATATAATATATACTATATATATTATATACAATATATAATATATACTATAT ATATTATATATACAATATAAAATATATATAATATATATTAGATATACAAT ATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(627): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGG GGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGG GGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAG AGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	634	c.12 others(645): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(627): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGTGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGG GGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGG GGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAG AGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	634	c.12 others(645): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCC TCCCCTCACCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(627): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGG GGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGG GGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAG AGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	634	c.12 others(645): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCT CCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCT CCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGA others(627): Show AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGA AGGGAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGG GGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGA GGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGA GAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGG GGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGG GGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGG AAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGG AGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGA AGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGG GGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	634	c.12 others(645): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCC TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(627): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGG TGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGG GGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGG AAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGG GGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGA GGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGGA AGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGG GGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	634	c.12 others(645): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCT TCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTC CCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTC ACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACC CTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(627): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGAGGAGAGGGGAGGGG GAAGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGG GGGAGGGGGAGGGGGAGGGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAGG GAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGA GGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGG GGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAG GGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAG GGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGAGG GGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	634	c.12 others(645): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCC CCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCC CCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCC TCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCC CCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTC CTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCT CCCTCCTCCCCTCCCCCTCCCCCTCCCTCCCCCCCTCCCCCTCCCCCTCC CCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTT CCCCCTCCCCTCTCCTCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCT CCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCT CCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCC CCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(627): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GCTGGTCTCAGTGGCTCATGCCTGTAATACTTGCATATCTTGGGATGGCA AGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACA CACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCAT GCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGC CCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGC CAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCAA CCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCATT TTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTTA TAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATTT TGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0112 a0002c0008t0001g0112	1	98	0.0102	634	c.531 others(653): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGTATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG GTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGTA TGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCCT GCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(627): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GCTGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCA AGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACA CACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCAT GCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGC CCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGC CAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCAA CCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCATT TTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTTA TAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATTT TGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp1 HG02056.hp1 others(2): Show HG00621.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0003 a0001c0001 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0014t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0014t0002g0055 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0014t0002g0055 a0002c0003t0001g0100 a0002c0003t0002g0104	5	102	0.0490	634	c.531 others(653): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG GTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGTA TGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCCT GCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827261	A A	AACATATA others(627): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTATA GTTTATATAATATATAAAATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	293	0.0034	634	c.12+ others(649): Show c.12+3959_12+3960insCACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

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