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
DACT2_chr6_168301904_168324777	168316264	CCATGTGT others(1713): Show CCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGC AGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCA CCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTG AGGGCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATC TCAGCAGCACCTCCCTTCCCATCACGTGTGTAACACGTCTGTGGCTGTCG TGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACA CACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTG TGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTG GTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTA ACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGA TTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCC ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACAC ACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGT GGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGG TGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAA CACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGAT TGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCA TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18957.hp2 HG01891.hp1 NA18957.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0259 a0002c0003t0003g0090 a0001c0001t0001g0259 a0002c0003t0003g0090	2	472	0.0042	-1720	c.246 others(17): Show c.246+1404_246+3123del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
PRKN_chr6_161342417_162732766	162157527	GGTACTGC others(1713): Show GGTACTGCAAGACCAGAGCTTAGAAAATGCTTCTGCACATAAAAGGCACT CTAAAGGAAATGCAATTAATACAGGGGAAATTCAAAAGACATCTTAAATG GCCTCAATTATACTCTTTCAGGATAATTTATAATCTGCTAATGATAAAAT GCAGATGGCGGACTATATTAATTTCAAAATGCTCTACCGCAGTTTTACTA GATATTTCTGGGACTATAATGCAAAACCAACCCAAGACACATTCAGAAAG ACTTCTCATTCCCTCCAACTACAGCCAAGTTGAATTCCTTACTCTTGTTA GGCATGCATACTGTGGATCTCAGGTTTTAATGTTCTCTGTATTTTATCAA CAGCTTGTCTTCCATAATAATAATACTTTCAGTCCTCTGGTCTCAACATT TTGTTGCAACTTTGTTGAAACTTCTTAATTTAATATCTGAATTCATATTA AAGCCTTCTATGTTTCTTTGAGATTATTTTTTTGCTGGGAGTCTGCTGTT TTCAGCCACCTATCAGAAGGTAACTCATGAAATAGAGTATAATTGTCAGG GTGCGATAAGTTTTTGGCATATTTTCTATGTAACTGATAGGAAATATAAT ACAAGGCTGTTAAATAATGAAAATTTTAAAAAGGAATACCATTAGGAAGG TTTTCTGTTTGGGTGATGGATGTGATCTATCATATAGTTCTAAATAATAA ATTCAGTTTTCTGTCTCAACGGTTGTTCTCTTCTTTCTCCTCAGGAAATG TTACACGCTGAGCCTCTGTCTCCCAGAACAGTGCTCCTGAATATTGAAAA CATGCTGCCCAGATCTTTCTTTCTTCTTTGACAAAGGCTACTTATCTTGT AGAGTGTAAAAGACCAAAGCTTTTTGTTTGTTTGTTTGCGTTTTTTTTTT TTTTTTTCTTTTGGTTTGTTTTTGAGATGGAATCCCACTCTGTCGCCCAG GCTGGAGAGCAGCGGCACAAACTTGGCTCACTGCAATCTCCGCCTCCCGG GTTTAAGCAATTCTCCTGCCTCATCCTCCAGAGTAGCTGGGACTACACTT GTGCACCAGCACGCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTT CACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTGAAATGATCCGCC CGCCTTGGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCGCGTCC AGCTGCTTGTTCCTCTTCTGCCTTCTTCCTATTCCTTTCTTTCCTCCTCC CGCCTTCATCCAACACGGTTTGTGGTCCATGTTACTTGGGACTATTATAG GCTTCAAACGAGTCTCGTATGAGCAGTCTCTAGTCCATATTCCACCCCTG TAGCTAGTGCGCCCATGTTAAAGCTCTATAGTGTTCACATTACTCCCCTG TTCATGAATGCTCATTAGCCTTCCACTAACTACCATATTAAATCCCATCT CCACCTTGGCATTCAGGGCCATCCACATAACGCTAACCCTAAGCCTAGTC AGAGCCCATTTACTTGTGTTTGTACCTCCTATTGTCCTCCCACACTCACC CTTAGAGCCCCTCTGGACCAGGCTCTGTGTCAAAAACACCAGGTGATTTG CTTACCTTTAGGCCTTTGCCTTGCCTATCTCTATCTATTAAATTCTGCCG ATCTTCTTATCGTAAATACTGTTTTCTATTGACTAATTATCTATGAGAAT CACACAGATACTCATACGTGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	-1720	c.534 others(19): Show c.534+41884_534+43603del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	4/11			chr6	TogoVar
P2RX5_chr17_3668227_3701155	3686211	GGGGCCCC others(1712): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCT CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCC TCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGG GGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAA CAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAG GAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTC CCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC ACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACG TCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAG CTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACACACAGCT	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0265	1	288	0.0035	-1719	c.981 others(15): Show c.981+82_981+1800del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
DACT2_chr6_168301904_168324777	168316350	GCATCTCA others(1710): Show GCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGT CGTGTGCTGAGCTGAGGGCACGCAGAAGCTGCGATTGTGTCTGGTGCAAA CACACAACAGCATCTCAGCAGCACCTCCCTTCCCATCACGTGTGTAACAC GTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGT GTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGT GTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGC TGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCC TTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCA CGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCA GCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAG CTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGC ATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCG TGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACA CACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTG TGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTG GTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTA ACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGA TTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCC ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC AGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTGTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCAC GCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAG CACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGC TGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCA TCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGT GTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACAC ACAACAGCATCTCGGCAGCACCTCCCTTCCCATCACATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	474	0.0021	-1717	c.246 others(17): Show c.246+1321_246+3037del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
MCF2L_chr13_112964214_113104742	113067449	CGCACAGC others(1709): Show CGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGA GATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGA GGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCA GCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTG CACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGA TTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGG TCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGC TACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCA CAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATT GCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTC GCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTA CTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACA GCTGGAGTCCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGC ACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGC AGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACT TGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGC TGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCAC CTGGGTGGTGCAACGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAG TGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCG GAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTG GAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCT GGGTGGTGCACAGCTGGAGTCCCAGCTACTCGGAGGCAGAGGTCGCAGTG AGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGA GGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGA GTGCCAGCTACTTGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGG GTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAG CCGAGATTGCACCTGGGTGGTGCAACGCTGGAGTGCCAGCTACTCGGAGG CAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGT GCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGT GGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCC GAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCA GAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGC CAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGG TGCACAGCTGGAGTGCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGA GATTGCACCTGGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG02145.hp2 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0012 a0001c0005 a0001c0012	a0001c0005t0026 a0001c0012t0032 a0001c0005t0026 a0001c0012t0032	a0001c0005t0026g0016 a0001c0012t0032g0021 a0001c0005t0026g0016 a0001c0012t0032g0021	2	114	0.0175	-1716	c.881 others(16): Show c.881+1425_882-749del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
NOC4L_chr12_132139457_132157468	132149003	TCCTACCA others(1709): Show TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	292	0.0034	-1716	c.901 others(15): Show c.901+110_902-261del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMOC2_chr6_168436184_168672992	168560629	TGGAGGAG others(1709): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCG TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG CGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGC TCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACA CGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCT GAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCC CTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTG CCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAG GTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGG AGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGA GGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCG GAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCT TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCAC TGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGC TCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG00738.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0100 a0001c0003t0004g0101	2	144	0.0139	-1716	c.637 others(19): Show c.637+11445_637+13160del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPSB4_chr3_141046347_141153611	141058119	GCAGTCAT others(1709): Show GCAGTCATGTCTTCTTGCAGACCCCGTGCCTATTGAGCTCAGCTAGACAG GCCTCTGTGGCTGTGATTTTGGGTCCCAGGCCTCTGAAGACTGTGCATCA TATTTTTCAAACTAATGAGGTTCCTTAAACAGTGTGGCATTGCCACTTCA TGTCTCCTCATTTCCCTGTCGGGTAGGAACATCTGCTAGGGTCCTGGGAA AGGCAATTAGCAAATTAGAGTTTTTGTTTTCTTGCTCAGCCATGATTGAA GCCCCAGAGCAGATCCTTCTGGATAATGTCATTAAGCATCCCCATCCAAG CATGACGTAGGAAATTAAGTTTGGTTTTGGGGAAAAGTGACGGAGGCATC CTTTGGCGTTCTTCAGGATGCTGGCTGCTTACTGGGTTGAGAGATGATGG TATTCCTGTCAGGAAGATGGATCCTGTTGTATGTCCCATGTGCCTGGCCC AGTGCTGCATGCTGTAGTGGAGATGAGGAGAGGAGAAATGTGCTAAGTGC CCACTCCCTCTGGCTGGAGAGAGAAGGCAGGGATGAGCCCGACTTGGCCA CTGCTGTGTCCCTTGCTCTCAGCTGCACAGTGCCTGGCACTGTGTTCACT AAGCATTTTTTGAACGAATAAATGAGGGTTGGAAGCAGGGAAGGATGCAA AGCAGTAGCTAATAAAGGAGTAGACTGGATACAGCCAAGAGTCAGCTGCT CAGGAGTGAGAGTCCAACTATGATAGTGGCATTACTGGGCTTCATGTCCC CATATCCTGACTTTAGCCCTGGCCCTTTCTCTGCTTCATCCTCTGAAAAA CAGCAGAGCATGAGCCCTCCCTGAAGCCCAGCACAACCTCTCCACAGTCC ATATGTGTGTTCTGCCCCATGTTCAAAGTACCAGGCTTGTGTCTTGCATG GAGGGAGTAGTGCAGTGGCTGGGGGCACAGAAGTGCTGGTGAAAGTTTCC TGCCATCAGAGGAATGCCCTCAAGGTAGAAAAAAGCAGATCAGTAAGGCC TGAAAGATGTCCCCCTGGCTGGCTCAAGGGTGGACAGAGGTACAGGGCAG GCCCCAGGAGGCCTACTGGATCAGGGCAGGCTTCCTAGAGGAGGTGGAGC TCACCCTCATGGACTAATTATCTCTCAAAGGCTCCACCTCCAAATACTAT CACACTGGGGCTTTGTGTTAGGCCATTTTTGCATTGCTATAAAGAAATAC CTAAGACTGAGTAATTTATAATGAAAAGAAGTTTAGTTGGCTCACGGTTC TGCAGGCTTTACAGGAAGCACGGTGCTGGCATCTGCTTGGCTTCTAGAGA GGCCTCAGGAAGCTTACAGTCATGGCAGAAGGTGAAGGAGGAGAAGGCAT GTCACATGGTGAAAACAAGAGCAAGAGGCGGGGGTGGGGAGGTGTCACAC ACTTTTAAATGAGCAGATATCTCTCCAGAACTCAGTCACTATCCCTAAGA CAGCACCAAGCCATGACAGACTCACCCCCATGACCCAGACAGCTCCCACC AGGCCTCACCTCCAGCACTGAGGATTACAACTCAACATGAGATTTGAGCA GGGACAAATATCCAACCTATATTAGGCTTCAACATGTGAATTTGGGGAGG ACACAATCAGTTCATAGCCAGGCACATTCAAGTGGTGAAATGGCAATGTT GGAACACATCCACAATTTAAAAGAGCACTCACCACTTACTGGAAGCCCTG TGATGTGCCAGACTTTA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0053 a0001c0002t0003g0053	1	252	0.0040	-1716	c.-15 others(19): Show c.-154+6131_-153-6114del	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ZNF516_chr18_76352682_76500242	76392982	CAGGTGGT others(1709): Show CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03669.hp2 HG03710.hp2 others(2): Show HG00673.hp2 HG03669.hp2 HG03710.hp2 NA18747.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0017 a0001c0001t0035 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0164 a0001c0001t0017g0173 a0001c0001t0035g0233 others(2): Show a0001c0001t0001g0164 a0001c0001t0017g0173 a0001c0001t0035g0233 a0001c0002t0001g0049 a0001c0002t0002g0341	5	339	0.0147	-1716	c.181 others(21): Show c.1811-14395_1811-12680del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
HP_chr16_72049505_72066055	72057480	ACTGAGCA others(1708): Show ACTGAGCACTTAAGAGAGCAGGCAGGCGTCCAGCGGGGAACGTCCTAGAG GCACAGCCTTCCAGTGCGGCTTCCTCTGAGCACACAAGAGCCAGGAGGAG GGATGTGGGAGAACCGCAGCTGGCCAGGGAGAGACTTAAGCAGTTAGGTG ATGACTCCCTAAGGGTCACCAAGGGTCTTGTTCATTGGGGCCTGAAGGGC ACTGGCTGAATCCACTGTCGGCACTGCCCACAGATCAGGAGAGCCTGTGC ATACAGAGAGCCTGCTAGAAAGCCCTGGGTCTAAGGAGAAGCAAGCTCCA GGGAGAACAAGTCAAGGAATGACATAAAATCTTAATCCATGGAAGCCTAG CAGGAGGCTGGACATGGGCTGGAACTCCTGCTTCTCGTTATTAGGAGGAG CTGTTGCTCTCTCCTTTCATTCTCAGAACCAGAGGCAAAGACCCAGCCTC TTCTGCTCTTACTGGTGTGGAAATGCCAACCTGCCTCGTATTAACTGCAC CATCTACAAAATCTGAGCTCCAGCCAGTGCTGCTCTAGATTCATCTTTCT TTAGAGAGAATGAATTATTGTAGCCCCTAGCCCTTTCAATGAATTTCAGG GAATTGTGGAAATTCCTTTATTGGGATAATTGTTTAAAAATAATACAGTT CGCGAGCTTCTATTCGGGGTGGAAGGAGATTGATGTGCAGAGCAGCTCCC GCTCATCTGACTTTTCACGGTTCACTGGGAACAATTTCCAAATAGCAAAC TCTCTGGCTTCTCTCTCTTTGCAGATGACGGCTGCCCGAAGCCCCCCGAG ATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTA CTACAAACTGCGCACAGAAGGAGATGGTAAGATGTGGACAACTGTCTCCA TGCCCTACATACAACCCCCTTCTCTGACATTTCCATGATGGGTGGTGCTG AGGTGATTCGCCAGAAAGTTCGTTGCTCTCCTTGGAGCCAGGAGATTTAG ATTCTAATAAGCGTTTTGTCGCCAGTAGCCATGGCCCTTTGGGCAGACTA ACTTTTGTCAGCCTCAAGTTTTCTGTTTTGTTAAGGGGAGGCGATGCCAT GCAGCCTACCTCATGTAAATCTCAGAGTCACATTTACATCTCCAGCAGAT GTGGGAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGTGAGTC TTGCTGTCCTGGCACTGCTCTAAGGGCTTTATACTTATTTGCTCACTTAG TCCTCACAGTATCCCTCTGAACAGAGTTTATTGTTTTCACTTTGCTGATA AGGAAACTGAGGCACAGACAGGTTGAGTATCTTGCCCAAATTCAGGCAGC CTGTAAGAGGCAGAGTCAGGATTTGAACCCTGAGCCCTCCCTGTACTGCT TGGCTGTGACCGCCATGACCACAGTGTGTTCTGCTGGGCTTAACTGGCAT CCAGGCACTTGGCTTCCAGCACAGCACTCTTTCCCTTCCTCCTTCTCATA TACTCTCTCCTTTTCCCCTTCCTTTTTGTCCCCTTTTCCTCTTCCTTTTA GTTCTTCTCTTTAAATGCCTTCTCACTCTGCACGGGGTCTAGACTTGACT TCTCCTTTGGCTCACTTCTTGCCTTTTGTTTCAGGAGTGTACACCTTAAA CAATGAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAAT GTGAAGCAGGTGGGTG	A A	exon_loss_variant exon_loss_variant	HIGH	HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show HG00733.hp2 HG00738.hp2 HG01074.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0003g0004 others(5): Show a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0008g0004	58	424	0.1368	-1715	c.265 others(15): Show c.265+200_442+192del	HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SMOC2_chr6_168436184_168672992	168560570	GCATTCTT others(1707): Show GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAG ACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATAC CCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGC GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC AAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACAAGGCTCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	178	0.0056	-1714	c.637 others(19): Show c.637+11368_637+13081del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
MARCHF2_chr19_8408305_8444017	8428527	GTAATCCC others(1706): Show GTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAAGCTGG GAGGCGGAGTTTGCAGTGAGTTGAGATAGCGCCACTGCACTCCAGCCTGG GCAACAGATTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACCAAGGCTGGACGTGGTGGCTCACAATCCCAGCACTTTGGGAG GCAGAGGTGGGTGGATCACCTGAGTTCAGGAGTTCGAGACCAGCCTGGCC AATGTGGTAAAACACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCAT GGTGGCGGGGGCCTGTAATCCCAGCTTGAACCCGGAAGGCGGAGGTTGCA GTGAGCCAAGATTGCACCACAGCACTCCAGCCTGGGCAACAAGAGCGAAA CTCCGTCTCAAAAAACAAAAAACAAAAACCCTAGAAAAGCCCCTGGCCCA CCTAGGAGCCAGAGTGTAGGGAGAAAAGTGGGAGGGAGGTCCAGCCCCTT CACACACCCTCCCACACCCACTTTGGTCTCCGTGCTACAGCCACACAGCC CCCTCCCCACACATCTTGTCTAGGCCGCCTCCCCCTATCCCAGGGCCTTT GCATCTGCCGCCCCTGCAGCCTAGAGCCCCATCTCCCCCATTCTTCACGT GGTTCCTTCTGTTCATTCCGTTCTCTTCAATGTCACCTCCTTGGCAAGGC CTTGCCCCATGTGACCGTTCACCCATTTCATACCTCCACTGCCAGCATGG GAGGGCAGGGGCCCTTTCTGTCTCATCCACCAGAATTTCATGAATTAAGC CCATTTCTTGGCTGGGTGTGGTAGCTCATGCCTGTAATCCCAGCACTTTG GGAAGCCAAGGTGGGAAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCT GGGCAACACAGCAAGACCCTGTCTCTACAAAAAAATCAAAGAAATGAAAG AACTTATTATTATTATTATTATTATTATTATTATTATTATTATTTTGAGA CAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGC TTACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGATTATAGGTGCGTGCTACCACGCCCAGCTAATTTTG TATTTTTAGTAGAGGCAGGGTTTCTCCATGTTAGCCAGGCTGGTCTTGAC CTCCTGGCCTCAAGTGATCCACCCACTTTGGCCTGCCAAAGTGCTAGGAT TACAGACGTGAACCACCACACCAGGGCTTTTTTTTTTTTTTTTTTTTTTT AGCCCATTTCTTTTGGCCTGTCATCTGGGGAAGGCCAAGCGTAGTAGATT AGTAGCCAAAGACGCTTCGGCCCTGGAGCAAGACTTCCCAGGTTGGAACC CCAGCTTTGTGGACTATGTAGCTGTGTGAGTTTGCTCACTTGAGTTAATT CCTCTGTGCCTCAGTTTCCCCATCTGTAAAATGGGGGTAAATGTGCCCAG CACCTGGCAGGGCCTGGCTCCTCATGGGCTCAATAAATGTTTGAAAGAAG GAAAGGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGAACTTTGGAAG GCCGAGGTGGGCAGATCACTTAAGGTCACAAGTTCGAGACCAGCCTGACA AACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCAGGGCATG GTGGCGCTTGCCTA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18966.hp2 NA18962.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0253 a0001c0001t0003g0239 a0001c0001t0003g0253	2	390	0.0051	-1713	c.372 others(16): Show c.372+1738_373-404del	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
SERPINF2_chr17_1737871_1760265	1740149	GACAGTGA others(1705): Show GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGG GTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGG GTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACACTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAAGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAG TGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCCGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCCGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	444	0.0023	-1712	c.-27 others(11): Show c.-2763_-1052del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2721		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740149	GACAGTGA others(1705): Show GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGG GTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGG GTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACACTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAAGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAG TGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCCGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCCGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	430	0.0023	-1712	c.24 others(11): Show c.2465_*4176del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1565		chr17	TogoVar
KLHDC4_chr16_87702812_87770986	87752039	GAGATCGC others(1704): Show GAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTTGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCCAAATGGCCAGGCACAGTG GCTCACGCCTGTAATCCCAGCTCTCAGGGAAGCAGAGGCAGGAGGATCGT TTGAGCCCAGGAGTTCAACACTTGCCTGGGCAATATAGCGAGACCCGTTC TCCACAAAAAAGAAAAAAAAAAAAGACCAAAAAGAAAAAAATGAAGTCAA ACTCCAGGCAAGAGTGTAATCCACAATCCGATCCACAGCACTGTTTTTTC TTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTGTCACCAGGCTGGAGT GCAGTGGCGTGATCTTGGCTCACTGCAACCTCCAACGCCCCTGGTTCAAG CGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCGCC ACGACGCCCAGGTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCAT GTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATTCGCCCATCCCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCACA GCACTGTTTCAACATCCTTTCCTCCATCTTAGTTACAATCCCAGGCTTGA CCCAGTCCGACCCAGAGGACCACCCAAAGGCAGGCTGATCAGCAGTCTAA GAGCTTCGTATAGCCTACGCCCCAAAGATAATGAACACCAGGGAAAAAAA TAAATATGACTCAAGGGAAGATTAAAACTACGGAGACCCACAGATAAAAC TTCTACTCCTGCCCACGATGGAGCAACCTGTACCACGTTAGCTCCGCACC ATCAACAAGGAAAAAACCAGACGAAATCTAGGAAGCAACAACCTCCAGAC AACAGGAAGCGGGAAGTGCAGGACTGTGAACCTGAGAGCCAGGAAACACG CCACGCAGCCCTGACCCATGACTCCAGCCCCTGCAGGCAGCTCCTTCCCT GGAGCAGGGACAAGGGGCACAGGCAGGGCAGGTGGTCTTGCATAGCTGAG GAGACAAGGACTGGAGTTCAGGGACGCAGAGGCAGCTAAAAGTGGCAGGG CAGAGCACTGGAGAGAGGAAGCTATGGGAGAAAAAGCCCTGGAAATCTGC ACGGGGGCGTCCCCTGGAGTCTCTGTACACTAAACTGCACCCTGGGAGGG TGAGACCAAGGAACCACCACTGTGAAGACAAAAGCATCTTCTGATGCTGA GAACTATCAGAGCTTACACAGGGCTTGGAAACAGGCAAGTTCCAACCAGA CGAGGTGAAAAGATGTCACTGACCACACAGGTCATTCACTAGAGACTGCA GAAAGGCCACCACTGAGGGCTAAGCCAGCCCTAGAGAGAGCGTCAAAGAT CAAGATGATCTGCAAGGAACTGAATCACCTCAGGACAAAATGCAACACTG TTTGATAGGTGAAAAAATCCAGACACTCAGGCTGGGAGCAGTGGCTCACG CCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGT CAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTG AAAATACAAAAAATTACCTAGGCGTGGTGGCACACGCCTATAATCCCAGC TACTTGGGAGGCTAAGGCAGGAGAATCTCTTGAACTCAGGAAGCGGAGGT TGCAGTGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	377	0.0027	-1711	c.369 others(17): Show c.369+1444_369+3154del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	4/11			chr16	TogoVar
NOC4L_chr12_132139457_132157468	132148918	CACCACAC others(1704): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	218	0.0046	-1711	c.901 others(14): Show c.901+62_902-314del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148957	ACTCCTAC others(1704): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	230	0.0043	-1711	c.901 others(14): Show c.901+66_902-310del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
COMMD10_chr5_116080025_116298287	116119512	GCAGTCAC others(1703): Show GCAGTCACTTGGATATGGTAATATATTCACTTCTGTGTTTTATAGGTTAT ATATTGTATACCAGTCATCTCTGATACCCTGGCCCTGGCATCTTATTATT TTTTTTCCAGAGACAGGGTTTTGCTCAGTCACTCAGGCTGAAGTGTGCAG TGGCTTGTGGTGTGATCATAGCTCACTGCAGCCTTAAACTCCTAGGCTCA AGGGATCCTCCTGCCTCAGCTTCCCAAGTAACTAGGACTACAGGTGTATG CTGTCATGCCTAGATACTTTTTAAAGAACATTTTCATAGAGACAGTGTCT TGCCATTTTGCCCAGGCTGGTCTTGAACTCTTGGCCTCAAGCAATTGGTC CCCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACGGGTGTGAGTCACTGT GCCTGCCTTGTATCTTTAAAAAATAATGTTTTATAATTATAATTTGTATA GTATATACTGTATTCTTTTGAATTGTATGGTTCCATGAATTTTGATAGCT GTATTTCCATGAGATCACCATGGTAATCAAGATACAGAGCATTATGTTTA TAGCGGCACAATTTGCAATTGCAACAATATGGAACCAACCTAAGTGCCCA TCAACCAACAAATGAATAAAGAAAATATGGTATATATACACTATGGAGTA CTACTCAGCCATAAAAAGGAATGAAGTAGCGTTTTTTGCAGCAACTTGGG TGACACTGGAGGCCAGTTTTCTAAATGAAGTAATTCAGGAATGGAAAACC AAATATCTTACGTTCTCCCTTATTGGGAGCTAAGCTATGAGGTTGTGGTG GCATGAGAATGATATAATGGACTTTGGGGATTTGTGGGGCAAGGTTGGGA GGAAGATGAGGGATAAAAGACTACACATTGGGTACAGTGTACACTGCTTC GGTGACGGTTGCACTAAAATCTCAGAAATCACTGCTACAGAACTTACCCA TGTAAGCAAATACCACCTGTACCCCAAAAACTATTGAAATAAAATTAAAA AAAATTTTTTTTAAAGATAGAGTATTTTCATTACCCTCAAAAGTTTCATT TTCCTTTGCAGTCCCTTACTGCCCTAACCTAGCCCCAAGCAACCCCTGCT CTACATTCTGTCACTATAGATGGCATTCTCTAGTATTTTATATAAATGGA CTTACAGATATACTTTTTGTATGTGTCTGGCTTCATACACTGATTATAAT GATTTTGAGACTGATCATTTTGTTACTTGTATTAGTACTTTTTTTTTTTT TATTACAGAGTAGTATTCTACCATTTGGATATACCTCAGTTTGCTTATCT GTTCACCTGTTTGTGGATATCTGGGCTATTTCTAGGTTTTGGCTATTATG AATAAACCTAATTAATGTTTATCTGTGATTAACATTTATGTATATGTTTT GTATGTTTTTGTATATGTTTATGTATATGTTTTGTATGTGTATATGTATA TGTTTTTGTATAGGCCTATATTTTCTTTTTTTTAATTATACTTTAAGTTC TAGGATACATATGCACAACGTGCAGGTTTGTTACATAGATATACATGTGC CATGTTGTTATGCCGCACCCATTAACTCATCATTTACATTAGATATTTCT CCTAATGCTCTCCTTCCCCCTGCCCCCCACCACATGACAGGCCCCGTGTG TGATGTTCCCCTTCCTCTGTCCAAGTGTTCTCATTGTTCAGTTCCCACCT ATGAGTGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02886.hp2 HG02896.hp1 HG02897.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013	4	348	0.0115	-1710	c.400 others(19): Show c.400-14553_400-12844del	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
ACAP3_chr1_1287391_1312930	1288263	CTCTGCTC others(1702): Show CTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTC CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	290	0.0034	-1709	c.35 others(11): Show c.3592_*5300del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4127		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288263	CTCTGCTC others(1702): Show CTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTC CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	285	0.0035	-1709	c.166 others(17): Show c.1662+240_1663-286del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129855634	GAACGGGA others(1702): Show GAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTTACGGAGTC CGGGGGAACGGGATGGCTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACA GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACG GGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTG TAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGG GAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACG GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACG GGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTG TAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGG GAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACG GAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACG GGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTA TAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGG GAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGC CCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGGA AACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCC CTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTCC GGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCC CTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCC AGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAG AGTCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0036 a0001c0006t0002g0036	1	82	0.0122	-1709	c.79+ others(17): Show c.79+45918_79+47626del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
PCGF3_chr4_700832_775089	744756	CCCGGGGG others(1701): Show CCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0082 a0001c0001t0036g0082	1	361	0.0028	-1708	c.462 others(15): Show c.462+71_462+1778del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745695	TCCGTGGA others(1701): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0081 a0001c0001t0011g0081	1	294	0.0034	-1708	c.462 others(17): Show c.462+1039_462+2746del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744813	CCCGGGGG others(1700): Show CCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	360	0.0028	-1707	c.462 others(16): Show c.462+128_462+1834del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
C3orf84_chr3_49172634_49196858	49188964	ATTTTTTT others(1699): Show ATTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTG GAATGCAATGGCGCTATCTGATCTTGGCTCACTGCAACTTCCACCTCCTG GGTTCAAGCCATTCTCCTGCCTTAGCCTCCCGAATAGCTGGGATTAGAGG CATGCGCCACCAAGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTT TCTCCATGTTGGTCAGGCTGGTCTTGAACTACCGACCTCAGGTGATCCTC CCACCTCGGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCGCACC TTGCCTATTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATG TTGGCCAGACTGGTTTCGAGCTCCTGACCTCAAGTGATCCACCTGCCCTG GCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCTCGCCCAGCTGTG ACCCTGATTTATGATACACAGTGCCCCTTCCTTGTCTCCAGGCTTGTAAG TAGTAAAGGGCCTAGGGCCCTGTATCCCTTTCCCATTCTCCAGAAGCCTG CTATAGCCACTCCAGGCTATCTCAGCCATCACTCCTTTCCAGTATTCCCT GGCCAAATGTGTAGGCCAGTAACCAGCTGCCTCCTGTACTACTTCCCTGA CCAGAGGAGGCCTCCTACTAATTTCTAAGGACCTGGACTGTGAAGCTGGC TGTGGAATGGACCATGGGCTTTCTTAGCATTAAGGAATCTGAATGTGAAG GTAGTTGTCAGCAAAACTCAAGGCTTACTTCCTGGGTTCTAGAGGCTCTT TGCCTGTAGCTACCCACCCCGGCTAGGCCCTTACCCTTTGTCCATCTAGA AGGGGCAGTGAGCAATATGGTTCAGTTTGGCACTCACTCTTTTCCACCCT GTCTGTAGGGGAAAGATCTGACATCTCAGAGAAGAAAGGTAAAGCCTGTC CCAGGGATAGGTGTCAGTACAGCCATGGAAGGGCTGGGATGATGCTTTTG GGTTCTGGGAGAGGCAAGAACTGGTCTAGTCACCCCCGCTGCCTTCAGGT CTGCCTTGTACCTGACATCGCTGCAGGAACACTGCTGGAGGCTGGGGCTT GGCTGCAAGGTGGTATTCTCTAGCACTTTCACTCTTGAATTGGCTTCTGT AGTGCCCATAGAAGCCATTGTTGTGCTATAACAAGACAGGAATGAGGATA AAACTCACTCAAATCTCCACCATGGATCCTAGACCTCAGGGCCCCAACTG AGGGTTCCAGGAAAGCCAGACCAGAAGCCCCTCATGGAAGTTCCTGACAG AATAGAAAGAATCTAAGGAGTTAGGACACTCCTGGAGATGGGCCAGTATA GAAGTGTCTTCATCCATCATTGGGACAGTTGACCTCAGCTGTAATGACCC ACCTGGGCTATGCATGTGTAGGGAAGGAGTGCCATTCATTTAGAGCAGAG ATTTGTGGGCAGGGCCACTGATCAGGGGTGTGGTCCTTCCCTAAAGAGCC TGAGAAGAAATCCCCTTTGTTGTTCTCTCCACAATTTTTTTTTTTTTTTT GAGACAGAGTCTTGCTCTTTCACCCAGGCTGGAGTACAGTGGCACAACCT CAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCA GCCTCCCAAGTACCTGAGACTACAGGCGCCCACTATCATGCCAGGCTGAA TTTTTTT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	284	0.0035	-1706	c.28- others(15): Show c.28-532_141+1060del	C3orf84	ENSG00000236980.10	transcript	ENST00000545770.7	protein_coding	2/4			chr3	TogoVar
PCGF3_chr4_700832_775089	744814	CCGGGGGT others(1699): Show CCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0270 a0001c0001t0008g0270	1	362	0.0028	-1706	c.462 others(16): Show c.462+128_462+1833del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744870	CCCCGGGG others(1699): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0142 a0001c0003t0005g0142	1	362	0.0028	-1706	c.462 others(16): Show c.462+190_462+1895del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744927	CCCGGGGG others(1699): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0309 a0001c0003t0010g0309	1	361	0.0028	-1706	c.462 others(16): Show c.462+242_462+1947del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(1699): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18612.hp2 NA18944.hp2 others(1): Show HG00099.hp1 NA18612.hp2 NA18944.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0279 a0001c0001t0008g0251 a0001c0001t0008g0266 others(1): Show a0001c0001t0002g0279 a0001c0001t0008g0251 a0001c0001t0008g0266 a0001c0001t0008g0350	4	342	0.0117	-1706	c.462 others(16): Show c.462+299_462+2004del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKN_chr6_161342417_162732766	161982214	GTAAAATA others(1699): Show GTAAAATAAAAGGTTTGCCCACTGCTCAAGGAAATAAAAGAGGAGACAAA CAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGA AAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATC AAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTT CATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAA AGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAG GCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGA TCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACT ATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCC CTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCT GAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGA TTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAAC CTAGGCATTACTATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAA AACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAA TTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAAC AGGCAACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAA AGGGCTAATATCCAGAATCTATAATGAACTCAAACAAATTTACAAGAAAA AAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTC TCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATC ATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATC TCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGC TGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTG TAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATC TAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATAC CCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTT TATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTC CAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAA TACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATG GATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAA CCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCA CATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCG GGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACA CATTAGTGGGTGCAGCGCACCAGCACGGCACATGTATACATATGTAACTA ACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAA AAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp2 NA18522.hp1 HG02258.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0001 a0001c0001t0013 a0001c0003t0001	a0001c0001t0013g0012 a0001c0003t0001g0025 a0001c0003t0001g0032 a0001c0001t0013g0012 a0001c0003t0001g0025 a0001c0003t0001g0032	3	32	0.0938	-1706	c.619 others(18): Show c.619-10503_619-8798del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
SLC24A2_chr9_19502455_19794037	19671770	GCTGGATT others(1699): Show GCTGGATTTTGTCAAATGCTTTTCCTGCATCTATTGAGACGAACATATGA TTTTTGTTTTTAACTCTGTTATGTGGTGTGTCACATTTATTGACTTGCAG ATGTTAAACCATCCCTGCATCCCTGGTATGAAACCCAATTGATTATGGTG GATTTTTTTTTGATATGCTTTTGGGTTTGGTTAGCTAGTATTTTGTTAAG GATTTTTGCATCTATATTCATCAGGGATATTGGTCTGTAATTTTCTTTTT TTTGTTACGTCCTTTCCTGGCTTTGGTATTAGGGTGATACCGGCTTCACA GAATGATTTAGGAAGAATTCCCTCTTTCTCTATCTTGTGGAATAGTGTCA ATAGGATTGGTACCAGTTCTTTGAATGTCTGATAGAATTCAGCTGTGAAT CCTGGACTTTTTTTATTGGCAATTTCAAAATTACCATTTCATTCTCACTG TTTGTTATTGGTCTGGTTCAGAGTTTATATTTCTTCCTGGTTTAATCTAG GAGGGTTGTATATTTCCAGGAATTTATCCATCTCCTCTAGGTTTTCTAGT TTATGCATGTAGAGGTATTCCTAGTAGCCTTGAATAATCTTTTGTCTTTC TGTGGTATCCGTTGTAATAGCTCCTGTTTTGTTTCTAATTGAGCTTATTT GGGTCTTCTCTCTTCTTTGTTAATCTTGCTAATGGTCTATCAATTTTATT TATCTTTTCAAATAATCAGGTTTTAGTTTCATTTATCTTTTGTATTTTCT TTGTTTCAATTTTATTTAGTTCTGCTCTGATTTCTGTTATTTCTTTTCTT GTGCGGGGTCTGGGTTTGGCTTGCTCTTGTTTCTCTAGTTCCTTTAGGTG TGAACTTACATTGTCTATTTGTGCTTTCAGACTTTTTGATGTAGGCATTT AAGGCTGTGAATTTTCCTTTTAGCACTGTCTTTGCTGTATCCCAGAGGTT TTGATAGGTTGTGTCACTATTATCATTCAGTTCAAAGAATTTTTTAATAT CCATCTTGATTTCATTGTTGACCCAATGATCATTCAGGAGCAAGTTATTT AATTTCCATGTATTTGCATGGTTTTGAGGGCTTCTTTTGGAGTTGATTTC CAATTTTATTCCACTGTTGTCTGAGACAGTACTTGATAAAACTTCAGTTT TCTTAAATTTATTGAGACTTGTTTTATGGCCTATCATATGGTCTATCTTG GAGAATGTTCCATGTGCTGGTCAACAGAATGTATATTCTGCAGTTGTTGG GTAGAATGTTCCGTAAATATCTGTTAAGTGCATTTGTTCCAGGGTATAGT TTAAATCCATTGTTTCTTTGTTGACCTTTTGCCTTGAAGACCTGTCTAGT TCTGTCAGAGGAGTATTGAAGTCCTCCAATATTAATTGTGTTGCCATGTA TCTCATTTCTTAGGTCTAGTAGTAACAGTTTTATAAATTTGGGAACTTCA GTGTTAGGTGCATATATATTTAGAATTGTGATATTTTCCTGTTGGACAAG TCCTTTTATCATTATATAATGTCCCTCTTTGTTCTTTTTCACTGCTATTG CTTTAAAGTTTGTTTTGTCTTATGTAAGAATAGCTACTCCTGTTTGCTTT TGGTGTCCATTTGCATGGAATATCTTCCACCACTTTAAGTTTATGGTGAG TTCTTGTGTGTGTATGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTTTGAG ACACAGT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01258.hp2 HG01884.hp1 others(24): Show HG01074.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0013 a0001c0017 a0001c0021 a0005c0027 a0006c0026 a0007c0018	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0033 a0001c0001t0051 a0001c0001t0056 a0001c0001t0064 a0001c0001t0076 a0001c0001t0079 a0001c0002t0057 a0001c0003t0002 a0001c0005t0010 a0001c0006t0047 a0001c0007t0043 a0001c0007t0055 a0001c0009t0004 a0001c0009t0050 a0001c0013t0087 a0001c0017t0025 a0001c0021t0010 a0005c0027t0017 a0006c0026t0023 a0007c0018t0078	a0001c0001t0002g0008 a0001c0001t0004g0046 a0001c0001t0014g0059 others(24): Show a0001c0001t0002g0008 a0001c0001t0004g0046 a0001c0001t0014g0059 a0001c0001t0020g0057 a0001c0001t0026g0078 a0001c0001t0026g0159 a0001c0001t0028g0081 a0001c0001t0033g0001 a0001c0001t0051g0038 a0001c0001t0056g0106 a0001c0001t0064g0004 a0001c0001t0076g0077 a0001c0001t0079g0115 a0001c0002t0057g0031 a0001c0003t0002g0146 a0001c0005t0010g0060 a0001c0006t0047g0002 a0001c0007t0043g0022 a0001c0007t0055g0003 a0001c0009t0004g0147 a0001c0009t0050g0148 a0001c0013t0087g0067 a0001c0017t0025g0019 a0001c0021t0010g0150 a0005c0027t0017g0161 a0006c0026t0023g0149 a0007c0018t0078g0061	27	186	0.1452	-1706	c.931 others(19): Show c.931-51177_931-49472del	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
ADGRA3_chr4_22382376_22521066	22494061	TGGGCGTG others(1697): Show TGGGCGTGGAGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATTGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCG CACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAGAAAA AAAAAAAAAATAAGAGTAACCTTTGGTAGTCCTCAATGCTACACTCCCAC CAGCGCCATGACAGTTTACAGATGCCATGGCAACATGAGGAAGTTACTCT ATATGGTCTAAAAAGGGGAGGCATGAATAATCCATCCCTTGTTTAGCATA TCATCAAGAAATAACCATAAAAATGGGCAACCAGCAGCCCTTGGGGCTGC TCTGTCTATGGAGTAGCCATTCTTTTATTTCTTAACTTTCTTAATAAACT TGCTTTCACTTTACTCCACGGACTCATCCTAAATTTTTTCTTGCACGAGC TCTATGAACCCTCTCTTGGGGTCTGGATTGGGACCTCTTTCCTGTAACAA TTTGAGAACCTCCTGAGTAACATATGCTATATCCTACAATCAAGAAAACT ACTACACATATTATCCTAAATAAAACTACTACAAATTACTATAAACTGAG TGGAGTTTTACATTTTTTTAGTTCTTTTTGTTAGAACACTAAAGTTATAC AGTCAAAATCTTCAATTCTAATTAAATCTTCTGTGTGTTTCATTTTCAAC TTAAAAGATTATTTTTAGTTATTTTTAACTAAATAATACATTTACAGAAG TCAAAGGTGAAAACTATATACAAAGAGAACCAACTTATTTCAGTAGACCC CCCTTATATGTGGGGCATACTTCCAAGACCCCTAGTGGATACTTAAAACC GTGGATAGTAGCAAACTCTACATACACTGCTTTTTCCTGTATATGCATAC CTATAATAAAGTTTAACGTATAAATCAGGTACAGTAGGAGATTAAAAACA ATAACTAAATAACAAAATAGAACAATTATAACAATGTACTGTAATAAAAA TTATGTGAATGTGGTTTCTCTCTCTCTCAAAATATCCTATTGTACTCTCT TCACCCTTCTTATGATCCATCCATCTAATAACCAAGCCAGCTACTAAGTG ACTAACAGGCAGGTAGCAGAGACAGCATGGATACCTTGGACAAAGGTCTG ATTCAAGTTCCAGGCAGGATGGAGCAGGACAGCACAAGACTTCTTCCCGC TACTCAGAATGGTACACAATCTAAAACTTATGGCTGCGCACAGTGGCGCA CACCTATAATCCCAGCACATTGAGAGTCGGATCGCAGGGCCCAGGAGCCT GGGATCAGCCTGGGCAATCTGGTGAAACCCCATCTCTAGAAAAAATAAAT AAGTAAAACTTATGAACTATTTATTTCTGGAATTTTCCATTTAACTGAAA CCACAGAAAGCAAAACCATGAATAAGGTGGGGGACTACCATTTTGGAAAT AGACAAAAAAGGAAAACAAACAAGGACTTATCTTGGCCTTCCTGGATAAA GTGACTTCCAGAAAGCAAAGTAATTGATCAGGAGTAAATTTCTTTTATAA AAGTATCAAAGTTATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCAGGGCGGGTGGATGACGAGGTCAGGAGATCGAGATC ATCCTGGCTAACACGGTGAAACCCCGTCGCTACTAAAAATACAAAAAAAT TAGCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03579.hp2 HG02965.hp1 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242	3	288	0.0104	-1704	c.257 others(19): Show c.257+19763_258-20219del	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	1/18			chr4	TogoVar
BCAS3_chr17_60672851_61397831	60692566	GCATGTTG others(1697): Show GCATGTTGAATATTGAAACAGGACTCCTTGGCCAGGTGCTCACCTGTAGT CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGC GGAGGTTGTAGTGGGCTGAGATGTCACCACTGCACTTCAGCCTGGGCAAC AGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTAGCTGGAGTGGTGGCA TGTACCTGTAATCCCAGCTATTCGGGAGGCTGAGGAGGAGAATCGTTTGA ACCCAGGAGGTGGAGGTTACAATGAACCAAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGAGATATCCTTTCTCAAAAAAAGAAAAAAGAAAGAA AAGTTCCATGTCACCAAACTGAAACTAAGTTGTTATCTGACCTTAGGAGA AATCAGAAAAGAGACATAACAGCCAATTTCCCAAGGAGAATCGCTTGAAC GCAGGAGGTGGAGGTTGCCCGGCTAATTTTTTGTATTTTTAGGAGAAACA GGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTCA TCTGCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACT GACTTGATTTATACCCAGGCTTGTTTCTCTCAAGACACTACACTGAGAAA GGTATAAGTAGCCAAAGCAGTTTAATATTCTGACATTTTTCTGTCAAATT CTCTAAAGGTGAGAATATAGTTTGAATCCCAGACTACATCAGATCAAATT GATGCTGGTTTACTCTAGTATAATGGGAATTGCTTTCTAGCCTGTGCAGT GAAATTCTTACTATCCCCTAATCCCATACTTCATACTTGGCCAGTTTTTG TATTTTTTTTTTTGACAGAGTCTCACTTTTTCACCCAGGCTGGAGTGCAG TGGCCTGAACTTGAACTTGGCTCACTGCAGCCCCGACCTTCTGGGCTCAA GCAATCCTCCCACCTCAGCCTCCTTAGTAGCTTGGACCACAGGCATGTAC CACTATGCCTGGCTAATTTTTTGACTTTTTGTAGTTGGGGTCTCACCATG TTCCCTAAACTGGTCTCAAACTCCTGGGCTCAAGCAGTCCTCCTACCTTT ACCTCATAAAGTACTGGGATTGCAGGTGTGAGCTACTATGCCCGGCATGG CCAGTTCTAATATCAAGGTCTAGTACTATATTTGAGTGTTGGATTTCATG TTCAACAGGCCCTTTTTTTCAGTTGCAAGTAATTGTTTTAAGTAAAAAAG GGAATTATTTTTTTTTAATTTTGGAAAAATATAGCATAAAATTTACCATT TTAACCATTAAAAATTTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCT TGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCA AGCTCCACCTCCTGGGTTCATGTCATTCTCCTGCCTCAGCCTCTCGAGTA GCTGGGACTACAGGCACCTGCCACCATGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCTGCCCGCTTCGGCCTTCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAACATTTTAATTTTTAAAAAAATTATTGA TTATTGGCTGGGCGTGGTGGCTCATGCTTGTAATCCCAACACTTTGGGAG GCTGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01952.hp2 HG02615.hp1 others(3): Show HG01099.hp1 HG01952.hp2 HG02615.hp1 HG02886.hp2 HG03225.hp1 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0009 a0001c0002 a0001c0004 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0004c0009t0001	a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(3): Show a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0004t0001g0058 a0004c0009t0001g0055	6	74	0.0811	-1704	c.214 others(17): Show c.214+2806_214+4509del	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	4/23			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1430539	CGGTCTGG others(1697): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGC CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp2 NA20752.hp2 others(1): Show HG01255.hp2 HG01891.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0048 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0048 a0001c0001t0068	a0001c0001t0001g0190 a0001c0001t0004g0189 a0001c0001t0048g0339 others(1): Show a0001c0001t0001g0190 a0001c0001t0004g0189 a0001c0001t0048g0339 a0001c0001t0068g0241	4	350	0.0114	-1704	c.92- others(15): Show c.92-5474_92-3771del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CARD6_chr5_40836367_40860354	40848653	AGAGACTC others(1697): Show AGAGACTCTAGATTGTTATATTTCTCCCAAGAGTCTGAATATTATTTTAG TCTGTTTTTGTCTCCAGTTAACCTAACTGTATTTAAATTCAAAATTTAGA CTCCTTTTCCATGGGTGGCAGCTGAAATCTCTGTTTATTTCTTTTTGCCT TAGCTGAGTTATTTTTATGAATTTTTAATTTATAAAATTGAGATTAGTTT CCTGATATTATTGCTTACTTTTTTCACCTAGCTCTGTGCTTAATTAGATA CATCTCTGTTTTGTGTGTACATCTACTCTGTTGCTTTGATCTGCTCCATA GTGACACTGTTATTACCTTGTCGACACACCTGGCTTGGATCCTGTGGGTA TTGATGTCTTTCTTTTTTTTTGAGATGACAGGCTGGAGTGCAGGGCCACA ATCTTGGCTCACTGCAACCCTGCAACCTCCACCTCCTGGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCA CACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTGTCATTATGTTG GCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCGACCTCATCC TCCCAAAGTGCTGGGATTATAGGTGCGAGCCACTGCACCCAGCCATGGGT ACGAATTTCTGGCTGAAGAAGTAGAGAATTGCTTTCCTAAGGCAAAGTAT GAGACAGGAAAAAGCAGAACTTAAAAGCTGTCCTGCAACCTATTCTCTCA CTGCTTCCTCTGTGAACTCTTTCTTCATGCTAGATTCAACTTCCCCCTCA CCTTTTTGCCCCAACACATATATCAGTTCAAGCAACTTTGAGACTACTCA AGGGCTTCTTATAGTTACTTTTATTAATTCCTAAAATCTATGCTTTTCTC TTATTTCTGTTGTTTCTTCAAAGCTATTTTTAAGGGTAATTTTACATTTT TACACTAGCTGGCCGTCTGTCAGGAGTAGAAAATCTAGGCTGATCTTCTC TCTCTGTTATGTACTATCTCTGTATTTATAAGATGTAGGTAGGCCAGCCA GGGTGGCTCATGCCTACAATCCCAACACTTTGGGAGGCTGAGGCAGGCAG ATTAATTGAGCCCAGGAGTTGAGACCAGCCTGGGCAAAATGGTGAGACCC TGTCTCTACAAAATGAAGAAATGAAAAGTTAGGTGGGGTTGATGGTGTGC ACTTGTGGTCCCAGCTACTCCAAAGGCTGAGGCAGGAGGATCACCTGAAC CCAGGAAGTTGAGACTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGC CTAGGTAACAGTACAAGACCCTGTCTCAAAAAAAAAAAGTAGGTAGAAGA TAGTTTGGAAAATGGGAGATCAGGAAAAATTAGGTATAGCATGTAAACTC CGAGAAAAACTTTGAAGGAAATAAAATCTTCAGTTCCTGTAAACTTCAGC AAGAGATAAATTTAAGAAAGAACCAGTATCGGCCAGGTGCGGTGGCTAAC GCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCAGGCGCATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACATAGTGAAACCCTGTCTCTACTAA AAATACAAAAAATTAGCCAGGTGTGGTGGCACCCGCATATGGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTT TCAGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show HG02040.hp1 NA18952.hp2 NA19000.hp1 NA19006.hp1 NA19056.hp2 NA19064.hp1 NA19078.hp1 NA19080.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0021 a0001c0001 a0021c0021	a0001c0001t0002 a0021c0021t0002 a0001c0001t0002 a0021c0021t0002	a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0141 others(1): Show a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0141 a0021c0021t0002g0097	8	438	0.0183	-1704	c.842 others(17): Show c.842-3517_842-1814del	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
HSF1_chr8_144286604_144319720	144301894	GTGCACGG others(1697): Show GTGCACGGTGGTGGTGCCTGTGGTGCCAGCTACTCAGAGGCTCGGGTGGA AGGATTGCTCCCAGATGGGGCAACATAGCTTGGCCAACATGGTGAAACCT TGTCTCTACTAAAAATACAAAAACTAGCTGGGCGTGGTGGCAGGTGCCTG TAATCCCCGCTACTCGGGAGGCTGAGGCGGGAGAATCTCTGGAACCCAGG AGGCAGAGGCTGCAGTGAGCCGAAACTGCACCATTGCACTCCAGCCTGGG CGACACAGCGAGACTCCGTCTCCAAAAAAAAAAATTTTTTTTTGCAACTC AGGAAGACAACCATTTAAAAAAAATTAAAGGCAGGCCGGGCGCCGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCGGATCACAAG GTCAGGAATTCAAAAGCAGCCTGGCCAATATGGTGAAACCCCGTCTCTAC TGAAAATACAAAAATTAGCTGGGCGTGATGGCAGGTGCCTGTAGTCCCAG CTACTCAGGAGGCTGAGGTGGGAGAATCGCATGAACCCGGGAGGCAGAGG TTGCAGTGAGCTGAGATCGCGCCATTGCACTCTAGCCTGGGCAGTGGAGC GAGACTCCATCTAAAAAAAAAAGATAATAATAATAATAAATAAAACGCAA GTGGCTGAGCATGGTAGCTGACACCTGTAATCCCAACACTTTGGGAGGCC AGCGCGGGTAGATTGCTTCCACTCAGGAGTTCGAGACCAGCCTGGGCAAC ATAGGGAGACCCATCTCTACAAAAAAAAATGAGCCTGATGTGGTGGTGTG CTCCTGTGGGCCCAGCTACGCGGGAGGCTGAGGTGGGAGGATCTCTTGAT CCCAGGAGGTAGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCCAG CCTGGGTGACAAAGCAGACTCTGTCTCGAAAAAACATACATTGAAAAAGG CAGAAGATTTGAACAGATACATCAAAAAAAAGATAGACAAATAGCAAATA AGCACTTGAACAGGTGCTCAGCATCGTTCGTTGTCAGAGGAATGCACACG AAAACCGCAGCGACAGCGACTAGAACAGCCAGGTGCTGAGGAGGGTGCGG AGCCCCTGGAACTCACCCGTGCTGCTGAGAACACAAATGCTGCATCCGCT TTGGAAAGCAGCTTGGGAGTTGCATGTGAAATTCAGCATTTACCACACGG CCAGCAGTTCTGCTTTGGTTATTCTACTCCAGAGTTTCCACTGGGGGTCC TTTATGATTTCGTCTCTTCTATCATTTTTTTGGTATAGATGGGGGTCTCG CTATTTGGATTATTGTTGCAGGCGTGTTTGGGGTTTTTGAGTAGTGGTAG TGTCTGAGGTCAGTCAGGGTTGTTCTGGCCCCAGCAGGGCTCTTCGTAGC TTTTCCTGTGCAGGTGAACAAGCCTGCGGTTTCACTTGTTTCTCTTAACT TAGAGGAGCTGTTGTTCCCAAGAGCAGTCTTGGGCTGAACTTTCAAATAA AATGAGTTTCCTCAGGGAGCTTCAGAGCTCTTTCCTTATGGACGGCCTCT CTCCCCAGGCTGATTTCTCTGCACCACCCTTCTGGGCACTGGGTAAGACA GCAGCCTCTGATCTTCTTGGCCTGGCTTTCCCAGCATGGGTGCTCTACCC TACTGTTTTAACCTAGAAAGCCTGAACTGTATTTAAAACTTGTGGTTTTT AAGGC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02698.hp1 HG03688.hp1 others(4): Show HG02165.hp2 HG02698.hp1 HG03688.hp1 HG03688.hp2 HG03942.hp2 HG04228.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0220 a0001c0001t0001g0221 others(4): Show a0001c0001t0001g0159 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0251	7	327	0.0214	-1704	c.118 others(17): Show c.118-7011_118-5308del	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	1/12			chr8	TogoVar
SMYD3_chr1_245744347_246512279	245974577	GGCCCAGG others(1697): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT GTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTA GGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp2 HG01109.hp1 HG02559.hp2	a0002 a0002	a0002c0007 a0002c0008 a0002c0007 a0002c0008	a0002c0007t0004 a0002c0008t0001 a0002c0007t0004 a0002c0008t0001	a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0007t0004g0111 a0002c0008t0001g0112	2	147	0.0136	-1704	c.532 others(19): Show c.532-46344_532-44641del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
METTL15_chr11_28103388_28338507	28233099	ATTTCATG others(1694): Show ATTTCATGAATATAGTTTTATTTTGAGTGGCTTAAAATGTACATTTGTAT TCTTAAATGCAGTGACTATAAATGCCAAAAATAGAGTGCACTATAAATCA AGAATTCTCCTTTGTACTCAATTGTTAGGACATAATATACTGCTTAATAA CATAGATAATAATTAAAAGAAGACTAAAGCTTTGTGTAGTAATCCTAGTA GAATCCTTTGGAAGTAATCAGGATAGTTATAAGACAGAATATGAAAATAC ATGTTTAAAGTAATTTTCTTGTATAAATGATTACATTTTTTTGTTTATGT AAACCATTAGCTTTTTTTGTTTTCCTTATGTAACATCTAAATACTCATAT ATAGACTGTGGCTAATTTTTTTTTTAACTTAAAGGATAAAAGTCCCTCTG GAATACAACACTGCATTCAGTTTTCCCTCTTAACTCTCTATTGTTGGGCA AGTTACTCCAAGCCTCAGTCACCTCATCTTCCTTATGGTGAGTGAGGTAT AAGTGATAAAATAATAATTATTGAAATAAATGCTAATTATTGTTACCATA ACAGTTGTTTCTCCTGCTTTTATTAATTTGGAGTCAGTCACTCAGCTAAC ATCCAAGTATAAATACATGAGTGGTGAGGAATACTTCTCCTTTGTAGTTA TGCCATCAGTTGTCTATATTCACTGTTTTGAATTCCTCTGACTCCATTCT TTCTTTTTTTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCAC AATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGC ACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCT CCCCCCTCCCCCTACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTA CTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATAT ATGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTACTGAGAATGATAATTT CCAATTTCATGCATGTCCCTACAAAGGACATGAACTCATCATTTTTAATG GCAGCGTAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCACTC TATCATTGTTGGACATTTGGGTTGGTTCCAGGTCTTTGCTATTGTGAATA GTGCTGCAATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTA TAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGCTCAAATGGTAT TTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCAAAATGGTT GAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCA CATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCT AACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTTTCTGA TGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATG TCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCACCCACTTTTTGATGGG GTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGG ATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTTT GTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCT CT	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0230 a0001c0001t0006g0230	1	330	0.0030	-1701	c.407 others(19): Show c.407+21904_407+23604del	METTL15	ENSG00000169519.21	transcript	ENST00000407364.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
D2HGDH_chr2_241729630_241773811	241765405	CTTGGGGA others(1693): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01433.hp1 others(5): Show HG01167.hp1 HG01169.hp1 HG01433.hp1 HG01952.hp1 HG02257.hp2 HG02280.hp2 HG02896.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 others(3): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0029 a0002c0002t0025	a0001c0001t0004g0093 a0001c0001t0018g0254 a0001c0001t0020g0085 others(4): Show a0001c0001t0004g0093 a0001c0001t0018g0254 a0001c0001t0020g0085 a0001c0001t0020g0086 a0001c0001t0025g0029 a0001c0001t0029g0015 a0002c0002t0025g0169	8	365	0.0219	-1700	c.130 others(18): Show c.1307-2255_1307-556del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765486	TTAGGAAG others(1693): Show TTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA G	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0035 a0008c0024t0001g0035	1	208	0.0048	-1700	c.130 others(18): Show c.1307-1905_1307-206del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343954	CCCCTGTT others(1693): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCT GGGCACGCCTGGCCCAGCTCTGTAGGACAGTGGCAGCTTCCTCTCACTGG GACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACT TTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTA GGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGT TCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCAC TGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGC ACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTC TGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCC CTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTC TCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGAC TGGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCA GCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGA AGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTGTGG GCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGA CTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTT T	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01516.hp1 HG01192.hp1 HG01516.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0001 a0009c0012t0001 a0001c0001t0001 a0009c0012t0001	a0001c0001t0001g0111 a0009c0012t0001g0163 a0001c0001t0001g0111 a0009c0012t0001g0163	2	185	0.0108	-1700	c.148 others(21): Show c.1489-23385_1489-21686del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STARD9_chr15_42570606_42725998	42648409	GGCCTCGG others(1693): Show GGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCCCATACCC AGCCTGCTTTTCTTGTTCTTGAAGGTAAAGTTCACTGAGTACAGAATTTT AAATTGATGGTTATTTTCTTTTAGTCATTAAAAATTATACCATTCTCTTC TGCTTTCCACTGTTTTTGCTGAGAAGTCATCTCCTAGTCTAATTTTTTCA ATATTTTTACTTTTGTCTTTGAACAGTTTATTATGGTCTACTTATGGGTA GATTTAGGTTTTTAAAAAATCATGCTGGGATTCTTGAATTGTGCTTTTGT ATCTTCTTATCAGTTTTGGAAAGTTCTTAGCCATTACCTTTCCCTTTTTT CCCCCCTTCCCTCCACTACCATTACCTCTTATAATAATCCTTCTATCCCA TTCTTTCCTCTTCTTTTGGGACTCTAATTACAGGTATGTTAAGGCCTATT GCCTGTATACTCTGTGAGTCTTACCATTTCTTCTATATTTAATTAATTAA TTTATTTATTAGACATGAAGTCTTGCTAATGTTGCCCAGACTGGTTTTGG ACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGAGA TTACAGGTGTGCACACCTAGCCTCCATTTTTTTTTCTTTGAGATGGAGCC TCGCTGTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGC AACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCGAGT AGCTGGGATTACAGTCGCGCACCACCACAGCCGGCTGATTTTTGTATTTT CATGAGAGACGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTG ACCTCATGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCG TGAGCCACTGCACCCGGCTCCCTCCATATTTTTAATCTTTTGTCTCTCTG TGCTAAATTTTGAGTATGTTTCTGATCTATCTTCCTGCTCACTCATTCTT TCTTCAGCTATGTCTAACCTGCTATTAAACTTTATATTGAGTTTTTATTT TCACTTACAGTATTATTTCTCAGATATCCATTTTATTATTTCATTATAGT TTCCAAGTTTACAATCTTGTCTTTAAACTCCTTGAAAATATTAAGCAGAG TTACTTTTTTTTTTTTTTGAAACGAAGTTTTGCTCTTATCGCCCAGGCTG GGGTGCAATGGTGAGATCTTAGCTCACTGCAACCTCTGCCTCCTAGGTCC AAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTTGGACTATAGGCTCCC GCTACCATGTCCAGCTAATTTTTTGTATTTTTAGTCGAGGTGGGGTTTCA CCATCTTGGCCAGGCTGGTCTTGGAACTCCTGACCTCATGATCTACCTGC CTTGGGCTCCCAAAGTAGTACTGGGATTACAGGCATGAGGCACCGAGCCT GGCCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCC GAGGCTGGAGTGCAATGGCGCGATCTCGACTCTCCACAACCTCCGCCTCC CAGGTTCAAGGGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACA GGCATGCACCAACACACCCAGCTAATTTTGCATTTTTAGCAGAGACAGGG TTTCTCCATGTTCGCCAGGCTAGTCTCAAACTCCTGACCTCAGGCCCGCC C	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0199 a0004c0005t0002g0199	1	208	0.0048	-1700	c.560 others(16): Show c.560-2569_560-870del	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62413893	TATTTTAT others(1693): Show TATTTTATTTTTGTCCCCTAGATTGAGTTTTGAAGGCAGGAACCAAGCCC TTTATTTATCTGGCAGTCTGAGGGTATGGTAAATGATTGGAGCCATCTGG CTGCAGTGGTCAAGGGAGATTGCCTTGGGAAGTTGAACTTGAGCTAGAGG CCAAGTGCACTGAATTTTGGTGTCTTTCCATGTGGTTTTGGCTGTGGCAG CTGGGCCATTACAACTTCATAATCACATGTCATATTGGTTGAACTCAGTG AAGTGTTAGCAAAAAAAAAAACTATATATATATATATATATATATATATA ATTTGAGAAATTAAATCCTTTTAGATGATAGTAGGAACAAGTAAGTGGTG CTTGAGGTTTAATTTGATTTGAGAATGTGGGGGAGGAGAGTGAGCCTATG CTTTGATTTCAGTGGTAGAGCACTGGTGTTCCAAGGGGATTGTGTTTGAG AACCAGTGGGCTTAATCTTGCCACTGAATCCAGTAAGAAGCTAGTTTGTC CTTCAAGTAGAGGCTGAGGTGCTGTGTTCAGCAGGCTCCTCAAAGTGTAG TCCAGGACCAGTGGCAGCAGCAGTATCACCTGGGAACTTACTACAAATGC AAATTCTCCAACCTCACCCCCAAACTACTGAACCATACGCTCTGGGCTGG GGCTCAGGAACCGTTGTTTTAACAAGTTCTCAGGGGTGTTCTGCACACAG AGGTTTGAGAACCGCTGTCATACAGTATGTAACAGCAAAAGTGATTTGGA CGTTCAGTCTAGTGGGTCATTTCCCAAAGCATTTCATGTTTGGTTGCCTT CTTGTTCTGGTAACACAAGCCAAGTTGATGGGGGTAAATAAAGTTAGATT TCCACTAGTGCTTAGTAATAAATTAATGACAGCTCCAAGGTCTGGCTGGA CGGAACCCTCGAGTCTACCTCCAACTTGGCTCTAAAAGCAGACTCTGGTT GTGACCCAAGGAGGAGTAAATAAAAGAATTTTTCCTGTCAAGCATGCCTT TTAAAATTTTTATTATTTATTTATTTATTTATTATTGAAATGGAGTTTCG CTCTTGCTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCCCTGCAA CCTGTGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCCCCCGAGTAGCTG GGATTACAGGCGTGCACCACCATGCCCTGCCAATTTTTGTATTTTTAGTA GAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTC AGGTGATCTGCCCACCTCAGTTTCCCAAAGTGCTGGATTACAGGCGTGAG CCACTGTGTCAAGGATGCCTTTGATAGTCATGTTCCTATTAGGGACAGAG ATGGACAGATTTCTGGGAGGAAAGGGTAGGAGAGGTGCCCGAACTGACTG ACAGCCGTGCGAGTTTCTTCTGAGGAGACGTAGCAAGTGGCAGGGCTGAG ACATGGATATGGATGTTTTTCACCTGTGTTCAGCTGGCTGCATGATAGCA AAAATGTTTGATGAACATTCTGCTGCTGAAAGGACTTTTTCATTGTAACA GTTGAAACAGAGCTCTCTGTTTAAGAAACGTTTCCTGGTGGAACAAATGA TTCCAACTGAAACAAACTAAATGTTGAGATAGGATTTACTTTGACTTTGA GGGGAAAGAGGACAGCTAACAGTGCCCATTCATTTAACCCCTGCTTGCCC C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00621.hp2 others(33): Show HG00099.hp1 HG00099.hp2 HG00621.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01123.hp2 HG01258.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03486.hp1 NA18906.hp1 NA18960.hp1 NA18973.hp1 NA18984.hp2 NA19000.hp1 NA19030.hp1 NA19080.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0024 a0001c0040 a0001c0043 a0001c0059 a0002c0009 a0002c0020 a0002c0021 a0002c0030 a0002c0042 a0002c0044 a0006c0055 a0007c0049 a0009c0041 a0010c0032 a0011c0053 a0012c0067	a0001c0001t0001 a0001c0002t0010 a0001c0003t0001 others(24): Show a0001c0001t0001 a0001c0002t0010 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0002 a0001c0006t0011 a0001c0007t0002 a0001c0007t0015 a0001c0011t0001 a0001c0024t0001 a0001c0040t0005 a0001c0043t0001 a0001c0059t0007 a0002c0009t0006 a0002c0009t0013 a0002c0020t0003 a0002c0021t0003 a0002c0030t0029 a0002c0042t0001 a0002c0044t0009 a0006c0055t0001 a0007c0049t0038 a0009c0041t0001 a0010c0032t0002 a0011c0053t0026 a0012c0067t0003	a0001c0001t0001g0008 a0001c0001t0001g0109 a0001c0001t0001g0134 others(33): Show a0001c0001t0001g0008 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0002t0010g0001 a0001c0002t0010g0099 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0064 a0001c0003t0001g0122 a0001c0004t0002g0138 a0001c0005t0001g0130 a0001c0006t0002g0009 a0001c0006t0002g0131 a0001c0006t0011g0128 a0001c0007t0002g0111 a0001c0007t0002g0137 a0001c0007t0015g0092 a0001c0011t0001g0061 a0001c0024t0001g0135 a0001c0040t0005g0090 a0001c0043t0001g0112 a0001c0059t0007g0100 a0002c0009t0006g0093 a0002c0009t0013g0121 a0002c0020t0003g0132 a0002c0021t0003g0126 a0002c0030t0029g0071 a0002c0042t0001g0119 a0002c0044t0009g0136 a0006c0055t0001g0129 a0007c0049t0038g0110 a0009c0041t0001g0088 a0010c0032t0002g0040 a0011c0053t0026g0118 a0012c0067t0003g0066	36	142	0.2535	-1700	c.-23 others(21): Show c.-238+23212_-238+24911del	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
HTN1_chr4_70045438_70063848	70049113	AACATGCA others(1690): Show AACATGCAGATTTGTTGCATTGGTAAACGTGTGCCATGGTGGTTTGCTGC ACCTATCAACCCATCATCTAGGTTTTAAGCCCCACATGCATTAGCTATTT GCCCTGATGCTCTCCCTCCCTTCCCCACCACCAGGCCCTGGTGGGCGTTG TTTCCTTCCCTGAATCAGACACAAATTTAAAACACAATTTCTAATTAGTG GGATCAAGCTAAAGACCATGCGTTTATAAATCTCTTAAGTAGTTTTTCTA TCTTTAAAGTACACAAAGAGTTTCCTGGACATGTTCTTAAAATTCCGGTT CCAGGTGTACACCACAAGATTCTGACTCAGTAAGTTTGGAAAAGTAGAAT AAGAATCTGCATTTCAACAGCTACTAGCTGATGCTGATCATGATGGTCGC ATGTGGCACCCTCTGAGGAACAATGGACTGGGCTGTATAACTTATCTGAA CTTTAGAAAAGAGTTTTTAATACTCAGTTCTTAGCACATCAAATTCTCCA ACCGGTAGAGAGTAGGTGAATGCTTATACATGTTTGCCTATGAATTAAAT TAAAATTCTGTTTTTCTCTTTCTGTCTAATATAGTTATTTCAACAAATGG CCTCTATAAATATATATGAACCTCAGAAAACTCCAGGGAAGTAAATTCAA ATTTCTAAACATAAGAAATCAGTTTTATGTGAGAGATATGTGACCAAGCA CCTAGAATCTTTTGACATTAAATATGAGAATGTTTTTATCATATGATATC CAAAAGATGATTGAATTTTGGCAAATGTTTACATTCACTTTATTACTTAA AACACTCAAAGTCAATGTAAAGGTAAAAATACAAGATAAATAATGATTTG TAGGAAAACTTTTGAAGTATAGAATGACTCCAATTTTATTATGCCAATTA TCACTATTTACTAGAGAATGTGTAAAATTTTGATAACATGGTAAGTATTA TTTTTGACATAGCGTTGTTCCATCTTGGACATATATTTGTTGAAAAGTAG TAGATGGTATTCTACAGAAACATCTTTATCACTGCAATCATTTCTATGCC TGGTTTCCTCCAGCGTGCTTTTCCGTTGTCTGACTCACTCAGGGCTAGAC TAACACTGGGATTAGCATGTGATGGGTCCATTCGCTTTCCGGTTGCTTTG TCTTCACAATGATCTATTGTAAAATCACCTGGTTAAGTTTATTTTTAGAA TTTGTAGAGACAGATTTTGGGCATTACTTTCCGTCTCAATCATATGATCT CCTAATTGATGCTATTTAGAAAAACAAAAGGGAGATTTCAACGTGTTTAA ATACATCAGCCATATAGAAAAGGACATCTCTTGAGACTTCACTTCAGCTT CACTGACTTCTTGACTCTCCTCTTGAGTAAAAGGTAATATGTTCAAGTAC AATCTAATATTATATATTAGCATAAGCTTTTGTTTGCTAAAATCAATAGT AACCCACTTATGAAAATGTATATTATCTATTTAAATCTAGTTTACTTGAA TTGCGTATTTGCCTAAATAAATAATTTACATTTTTGTATATTACCTATAG AATACCATAATTTCTAATAGGACTGTTCAAATTAGCATAGATGATTTATC TAATAAATATTTCCTTTAAAAACTCACACACAAATTCATTTTATTTTATT TTATTTTACTTTCTTATTTTACTTTAAGTTCTGGGATACGTGTGCAGG	A A	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	438	0.0023	-1697	c.-13 others(13): Show c.-1395_-14+315del	HTN1	ENSG00000126550.10	transcript	ENST00000246896.8	protein_coding	1/6			chr4	TogoVar
AK5_chr1_77277019_77564966	77314209	TGCTCCAA others(1688): Show TGCTCCAAGTCACATGTATCAAGAGGCAGAGGTGGTATTTGAACCAGGCT AAGCAGGTCCTGAGGCTTCAGTCTTAACTACCACCTACTTTTTTAGAAAC ATAGATTAATATGCCGGAATATTCTCTAGCTACAATTGTTGGGCTTTTAT AACCTAAAATCAACTCATACTAAATGAATCAAACAAACGACAACCAAAAA AATAAAAAAAAAAAAGACCAGGAGAATGGACCAAGAAATACAGATGATAT AAACACAATACATTTAAAGATATTATTTTTTGTACTTTTTAATGTAGCTT AATTTTTTAATTGATACACAATCATATATTTATGGAGTACAGAATGATGT TTCAATACATATAGTGTATGGTGATCAGATCAGGGTGATTAGCATATCCA TCATCTCAAACATTTATCATTTCTTTATGTTGGGAACATTCAATATCCTC CATCCTCCTTTTAGCTATTTGAAACTATATATTTATTGTTAAGTATAGTC ATCCTACAGTGGCATAGAACACTAGAACTTATTTATTCAATCTAGCTATA ATTTTGTAAAGGTACTGTTTAATTCTAGCAGGAGAATAAAGTGAATGGGA GAGAGGCGAACACCTGTAAGGTCCATAGTATTCCAGATTATGAAATGACA CAGATATCTCAGGAGAAGATGAGAGCTTTTCACATAATCATTCCAAGAAG TTTCATTTAACAACAGATATTTATTGAGATGCTATCATGTTCTAGGCTAT TGTACTTTGTCCTGGAAACACAAAGATGAATGAATAATGTACCCTTACGG TAAAATACGTGTACATATAATCATGCATAATAGAGTATAAATACATACAA TGATTAGCATATGGTCTCTCATTTTTTTAAACTTTAATTTCAAATAGACA ACACATTTAGGTAGCTGAATATTTTAAGGATATAAAATTACATACACTGG AAACTCTCTCTTATTCTTGTCTCCAGGTACCTTCCCAGAAAGCAGACACC TTATCCTTCCAGAGATATTTTATACAAGGAAGGATGTGTATAGATTCTTG CTCTCACATTTTTGTTTTTTTCACTTAACACATTTGGATATTATTCGCCA TACTTTTTTGGTCATGCATACTACCAGTAAGTTATTTGAGCCCTTAGTAT ACATTAGAAAGTGAATTATAAAACATAGAGAATATTTAAGAAGGAGAAAT GAAGGTGAAATAACCAATAATTTTAGCAATTTATATTCTATTTTAGTATA AAAATGATTTTATCTCACTAACATTTTAAGCACAATGTGATTTAAAATGA AACTACTTTGAAGAAACTTGGTTAAAACTTTATGAAATAGGATTCAAAGA TTTGATTAAAAACTTTATGAGACAGGATTCAAAGGTTTGATTAAAACTAA ACTGATTGGATAGTGATACTTGATTTTATTTGTTGTTTTGTCACAAAAAA TAAAATGTATCACAAAATATGTAGCTCCTATGTAGGCGACAGGTGACTGA TACAGTGGGCGCCACAATGTCAGTCTTTATGCCAAAGACTGGTGAAGCTT AATTTATTCTGCTTGTTAAATTTAAAAAGTCAATTTGAACAGAAGATATA ATATTTCTTTTTGCACCCCAATTTATCATCTCGAGCCATCCTCCTGGATG TGTGCACCCTACTTAAGGAATCCCGGGCTAGGGAATCAAACATGTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03486.hp1 HG02723.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0280 a0001c0001t0007g0281 a0001c0001t0001g0280 a0001c0001t0007g0281	2	282	0.0071	-1695	c.699 others(19): Show c.699+16263_699+17957del	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	5/13			chr1	TogoVar
ADARB2_chr10_1172313_1742525	1236331	GCCTCCCG others(1687): Show GCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCC TCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGT GAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGA GCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGC ATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATT CCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCC CCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCC CCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACT CCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0042 a0002c0002t0008g0042	1	90	0.0111	-1694	c.136 others(19): Show c.1361+4106_1362-2487del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1404191	ATCCTCCT others(1687): Show ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATC GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTA CTAACTGAGCGCTCCCACCTTGTCCTCCAGAGTCGCGTAACTCAGCGCTT ACTGAGCGCCACCTCCTTGCCCTCCAGAGTCGTGTATTGAGTGCGCACTG AGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	38	0.0263	-1694	c.107 others(19): Show c.107-97168_107-95475del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
TMLHE_chrX_155484011_155617952	155547188	AGGCTGGA others(1687): Show AGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCACCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGAC CAGCTATAATAGGTACTTTCTTAAGTATTAAGATACAAACATAAATAAAT CAGCAGTCCTAGCCACCATTCAAGATGTTCACAAACTAGCAGGGAAGAAA GACAAGTACAGGGTGATAACTACTACTATTTATAATAGTTTTAAGCATAC AACACAGTGAAAGGTGCAAAGGAGTAAGAAGTTAACCATGCCTGAGGAAA GTGGTGGAGCTCCACATGACTAGTGTTCTTTGAAGAAGGTTTCATTGTTT TATATTAACTTAAAAATAAAACTGATTGTAAAAAAAAAAAAAGATGGGAT TGTTGGAGGTGTTGGAAATAATCCACACAACCCTGAAATATATAAAATAA TAAGTAAAAGCCTCTTTCTTTCATTATTTACCACCCCATTCTTTCAAGGA AACTGTTGATGAGGTTTGGCATATACAATGACACATATAATTAAAATCTC CACACCTGCTATAGACACATACAGAAATACATATGTATTTAAACCATAAA GAATGGTAGAAAACAAAGTCTCTCCTCCCCCATTTCCCATAATCTCACTA CTCAAATGTTACCAGTTTCAATTTTTAGAAATCAGCCCAAGCAAAACTGG ATATCCATATGCAGAAGAATGAGACCCCTACCTCTTGCCATATACAAAAA ATACAATCTAAGTGAATTAAAGACTTAAATCTAAGACCGCAAACTATGAA ACTACTACAAGAAAACATTGGGGAAACATACCAGGACGTTGGTCTGGGCA AAAATTTCTGGAGTAAGACTTCAAAAGCACAGGCAAGCTAAGCAAAAATG GACAAATGGGATCACATCAAATTAAAAAGCTACTGTACATCAAAGGATAC AACCAACAAAGTGAAGGGACAACCTGGAGAATGGGAGAAAATAATTTGCC AACCACCCATCTGACAAGGGATTAATAATCAAGCAATTTGCAAACTGGCA GCAGGTATCTGAAATTCACACAACTGACAAAGTATTAATATCAAGAATAT TTAAAGACATCCTACAGGCTGGGCACGGTGGCTCATGCCTGAAATCCCAG CACTTTGGGAGGTCAAGGCGGGCGGATCACAAGGTCAGCAGTATGAGGCC AGCCTGACTAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAATT AGCCGGGTGTGGTGGCACACACCTGTATTCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGA TTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAA AAAAAAAAAGACATCCTACAAGTCAATAGGAAAAGCAAACAATATGTGAG CAAATAGTATGAACAGACATTTCTAAGAGAAAACACATATGGTCAATATG GTCAATCAATTCATGAAGAGATGTTCAACCTCATTAATGATTAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	214	0.0047	-1694	c.-1- others(15): Show c.-1-3605_-1-1912del	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding	1/7			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241805330	TCCCCCCT others(1686): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCA GCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0069 a0003c0003t0001g0069	1	248	0.0040	-1693	c.11 others(11): Show c.1165_*2857del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1044		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805330	TCCCCCCT others(1686): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCA GCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0101 a0002c0003t0002g0101	1	257	0.0039	-1693	c.-39 others(11): Show c.-3947_-2255del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3862		chr2	TogoVar

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