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
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(415): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAG GGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGG ATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGG GGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAA AGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGG GAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGG GAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02965.hp2 others(5): Show HG01884.hp2 HG01891.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0088 a0003c0005t0007 a0003c0005t0088	a0003c0005t0007g0007 a0003c0005t0007g0198 a0003c0005t0007g0200 others(4): Show a0003c0005t0007g0007 a0003c0005t0007g0198 a0003c0005t0007g0200 a0003c0005t0007g0201 a0003c0005t0007g0202 a0003c0005t0007g0203 a0003c0005t0088g0197	8	149	0.0537	422	c.154 others(439): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCT CCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(415): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATAAAGTATATATATAATAT ATATAATATATATTATATATATAAAGTATATATATAATATATATTATATA TATTATATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATATA TATTATATATATATAAAATATATAATATATATTATATATATATAAAATAT ATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	2	0.5000	422	c.730 others(439): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATTTTATATATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT AATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATAATATATATTATATATATTATATATATACTT TATATATATAATATATATTATATATATTATATATATACTTTATATATATA ATATATATTATATATATTATATATATACTTTATATATATAATATATATTA TATATATTATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(415): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTC CCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	30	0.0333	422	c.433 others(439): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841405	C C	CCCCCCGA others(415): Show CCCCCCGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCA TGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCA GGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGA CCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGC GCATCTCACACGGGCGAGCAGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	238	0.0042	422	c.361 others(441): Show c.361-15328_361-15327insACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCA GGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGC CTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGA GATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTG GTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841420	C C	CGCATCTC others(415): Show CGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCA TGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTC ACACCCGCGAGCAGGTCCTCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCG ACCACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCA TCTCACACCCGCGAGCAGGTCCCCCCGACCATGGAGCATCTCACACCCGC GAGCAGGTCCTCCCGACCACGGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03516.hp2 NA20300.hp2 HG03098.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0001t0001g0201 a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0001t0001g0201	3	211	0.0142	422	c.361 others(441): Show c.361-15343_361-15342insACCGTGGTCGGGAGGACCTGCTCGCG GGTGTGAGATGCTCCATGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGG GAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAG ATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCATGG TCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACC TGCTCGCGGGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841642	T T	TGACCACG others(415): Show TGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGC ATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCC CCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAT GCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAG GTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCT CACACCCACAGGCAGGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	214	0.0047	422	c.361 others(441): Show c.361-15565_361-15564insGGGGGGGCCTGCCTGTGGGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTG CCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATG AGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGT GGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGA CCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCG TGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(415): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATGTGTGCATATATATACATATATATGTGTGCAT ATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATAC ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0048 a0001c0004t0017g0048	1	40	0.0250	422	c.196 others(443): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATGTGTGCATATATATACATATATATGTGTGC ATATATACATATATGTGTGCATATATATACATATATGTGTGCATATATAT ACATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(415): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGC ATATATATACATATATATGTGTGCATATATACATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0007 a0002c0018t0007	a0002c0018t0007g0012 a0002c0018t0007g0012	1	40	0.0250	422	c.196 others(443): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATATGTGTGCATATATACATATATGTGTGCATAT ATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TAGATGTA others(415): Show TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	359	0.0028	422	c.-26 others(433): Show c.-2641_-2640insCTATCTATCGATAGATACATCTATCTATCGATAG ATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACAT CTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCT ATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTAT CTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCT ATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTAT CTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCT ATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTAT CTATCGATAGATACATCTATCTATCGATAGATACATCT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(415): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0053 a0002c0001t0001g0053	1	11	0.0909	422	c.-10 others(439): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTG GTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGG CTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIWIL1_chr12_130332887_130377637	130338253	C C	CGGGGTCG others(415): Show CGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCG AGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCA GGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGG GGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGG TGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGG GCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTC CCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGC GGGGGATGCAGGAGCCGGGTGCG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0293 a0002c0003t0018g0293	1	423	0.0024	422	c.-13 others(437): Show c.-13+111_-13+112insTCGAGGTCCCAGGTGCGGGGGATGCAGGAG CCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGC GGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGA GGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAG GTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGG AGCCGGGTGCGGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGG TGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGG CGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKP3_chr11_389209_409908	401787	C C	CCCGCTCA others(415): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACC CCGCTCACCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	193	0.0052	422	c.173 others(441): Show c.1737+1084_1737+1085insGCTCACCCCGGGCCCCGCTCACACCC GACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACAC CCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401787	C C	CCCGCTCA others(415): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACC CCGCTCACCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	193	0.0052	422	c.173 others(441): Show c.1737+1084_1737+1085insGCTCACCCCGGGCCCCGCTCACACCC GACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCTGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACAC CCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401950	C C	CCCGCTCA others(415): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACC CCGCTCACCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	183	0.0055	422	c.173 others(441): Show c.1738-1126_1738-1125insGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACAC CCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(415): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATTATATAATTATATATTATTTATTATATAATATATAATT ATATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAA TATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTA TTATATAATTATATATTATGTATTATATAATATATAATTATATATTATGT ATTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTA TATATTATTTATTACATAATTATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02970.hp2 HG03041.hp2 others(5): Show HG02683.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp1 HG03492.hp1 HG03834.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0002t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0003 a0001c0007t0007 a0001c0011t0006 a0001c0014t0002	a0001c0001t0001g0046 a0001c0001t0003g0012 a0001c0002t0007g0027 others(5): Show a0001c0001t0001g0046 a0001c0001t0003g0012 a0001c0002t0007g0027 a0001c0003t0001g0029 a0001c0003t0003g0070 a0001c0007t0007g0014 a0001c0011t0006g0051 a0001c0014t0002g0072	8	90	0.0889	422	c.862 others(439): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATAATTATATATTA TTTATTATATAATATATAATTATATAATTATATATTATTTATTATATAAT TATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAA TATATAATTATATATTATTTATTATATAATTATATATTATGTATTATATA ATATATAATTATATATTATGTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTACATAATTATATATTA TTTATTACATAAGTATATATCACTTATTATATAATTGTATATAATTATTT ATTATATAATTGCATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(415): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATTATATAATTATATGTTATTTATTATATAATATATAATT ATATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAA TATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTA TTATATAATTATATATTATGTATTATATAATATATAATTATATATTATGT ATTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTA TATATTATTTATTACATAATTATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0095 a0001c0009t0002g0095	1	83	0.0120	422	c.862 others(439): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATAATTATATGTTA TTTATTATATAATATATAATTATATAATTATATATTATTTATTATATAAT TATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAA TATATAATTATATATTATTTATTATATAATTATATATTATGTATTATATA ATATATAATTATATATTATGTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTACATAATTATATATTA TTTATTACATAAGTATATATCACTTATTATATAATTGTATATAATTATTT ATTATATAATTGCATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PLEKHG4B_chr5_87168_194966	101061	T T	TAATCCAT others(415): Show TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG ACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGG GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0034 a0001c0015t0034	a0001c0015t0034g0121 a0001c0015t0034g0121	1	89	0.0112	422	c.45+ others(437): Show c.45+8837_45+8838insAAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGT CTATAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGA AAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGG GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATA AAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	105137	T T	TTGGTGTT others(415): Show TTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGC TGTTCTGGTTCTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGT GGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAAC ACTCCACAGTGGGTGAGGGCTGTTCTGGTTTTGGTGTTCCCGTCCTGAAG GTGGAGAAACACTCCGCAGTGTGTGAGGGCGGTTCTGAGTTCTGGTGTTC CCGTCCTGAAGGTGGAAAAACAGTGCACAGTGGGTGAGGGCTGTTCTGGT TCTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGG CTGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAG TGTGTGAGGGCTGTTCTGGGTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0028 a0028	a0028c0058 a0028c0058	a0028c0058t0039 a0028c0058t0039	a0028c0058t0039g0157 a0028c0058t0039g0157	1	154	0.0065	422	c.46- others(437): Show c.46-8080_46-8079insACAGTGGGTGAGGGCTGTTCTGGTTCTGGT GTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTC TGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCCACAGTGGGTG AGGGCTGTTCTGGTTTTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCC GCAGTGTGTGAGGGCGGTTCTGAGTTCTGGTGTTCCCGTCCTGAAGGTGG AAAAACAGTGCACAGTGGGTGAGGGCTGTTCTGGTTCTGGTGTTCCCGTC CTGAAGGTGGAGAAACACTCCACAGTGGGTGAGGGCTGTTCTGGTTTTGG TGTTCCCGTCCTGAAGGTGGAGAAACACTCCGCAGTGTGTGAGGGCTGTT CTGGGTTCTGGTGTTCCCGTCCTGAAGGTGGAGAAACACTCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP2_chr19_276043_296403	291603	A A	AGGAGGGG others(415): Show AGGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGG AGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGC AGGGGAGCGGCGGGCAGGGGAGTGGCGGGCGGGGCGGGGAGGAGGGGAGG GAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGC AGCGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAG GGGCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGA GAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGA GAGGGGGGAGGGGAGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	345	0.0029	422	c.-26 others(431): Show c.-268_-267insCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCC CCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCC CCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCT CCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCT TCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCC CCGCCCCGCCCGCCACTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCC GTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGC CCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCC GCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		201		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51696849	A A	ACACACAC others(415): Show ACACACACAGGTCCACACACATACACACAGGTCCACACACATACACAGGC CCACACACATACACACACAGGTCCACGCACATCCACACACACCGGTCCAC GCACATCCACACACAGGTCCACACACATACACACACACAGGTCCACACAC ATCCCCACACACACACACACACACACACACACAGGTCCACACACATCCAC ACACAGGCCCACACACATCCACACACACAGGTCCACACACATCCACACAC GCAGGTCCACACACATCCACATACACAGTTCCACACACAACCACACACAG GTCCACACACATCCACACACAGGTCCATGCACATACACACACAGGTCCAC ACACATACACATACACAGTTCCACACACATCCACACACAAGTCCACACAC ATCCACACGCACGTCCACGCATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01169.hp2 HG01496.hp1 others(3): Show HG01109.hp1 HG01169.hp2 HG01496.hp1 HG01517.hp2 HG02145.hp1 NA18984.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0046 a0002c0002 others(2): Show a0001c0001 a0001c0046 a0002c0002 a0005c0018 a0006c0007	a0001c0001t0001 a0001c0046t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0046t0001 a0002c0002t0001 a0005c0018t0001 a0006c0007t0001	a0001c0001t0001g0022 a0001c0046t0001g0020 a0002c0002t0001g0023 others(3): Show a0001c0001t0001g0022 a0001c0046t0001g0020 a0002c0002t0001g0023 a0005c0018t0001g0024 a0006c0007t0001g0029 a0006c0007t0001g0031	6	104	0.0577	422	c.165 others(441): Show c.165-42090_165-42089insGATGCGTGGACGTGCGTGTGGATGTG TGTGGACTTGTGTGTGGATGTGTGTGGAACTGTGTATGTGTATGTGTGTG GACCTGTGTGTGTATGTGCATGGACCTGTGTGTGGATGTGTGTGGACCTG TGTGTGGTTGTGTGTGGAACTGTGTATGTGGATGTGTGTGGACCTGCGTG TGTGGATGTGTGTGGACCTGTGTGTGTGGATGTGTGTGGGCCTGTGTGTG GATGTGTGTGGACCTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGGATGTG TGTGGACCTGTGTGTGTGTATGTGTGTGGACCTGTGTGTGGATGTGCGTG GACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGTATGTGTGTGGGCC TGTGTATGTGTGTGGACCTGTGTGTATGTGTGTGGACCTGTGTGTG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
RASA3_chr13_113972783_114137623	114044392	C C	CCTCACTC others(415): Show CCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCACCCCCCCGC CCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCC CCCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCACC CCCCCGCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGC CCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTC GCTGAGCACCCCCCCGCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCA CTCGCTGAGCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCG CCCCGCCTCACTCGCTGAGCTCCCCCCCCCCGCCTCACTCGCTGAGCTCC CCCCCCGCCTCACTCGCTGAGCA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	53	0.0189	422	c.278 others(439): Show c.278-3299_278-3298insTGCTCAGCGAGTGAGGCGGGGGGGGAGC TCAGCGAGTGAGGCGGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGG GGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGTGAGG CGGGGCGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGGTGCTCAGCGAGTG AGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGGCTCA GCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGGTGC TCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGGA GCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGG GGGGTGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(415): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGG GGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGA GGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	30	0.0333	422	c.36 others(433): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RGPD5_chr2_109789305_109862705	109794584	G G	GGGGGGGA others(415): Show GGGGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGC CTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCCTCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGG GGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGG CGGCCTCGTCCCGGCCGGGGGGC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0022	1	28	0.0357	422	c.72+ others(433): Show c.72+49_72+50insGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCG GCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCC CGGCCCGGCCGGGGGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGG GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCG GGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGG GCGGCGGCGGCGGCGGCCTCGTCCCGGCCGGGGGGCGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3309643	T T	TTGAGGAG others(415): Show TTGAGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGGGAAC CGTGTTGAGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGAGGAG AGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCCGCTGAG GGGAACCGTGCTGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCT GAGGGGAACCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCC TCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTG TCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACTTGGGAATGGCAG GTGTCTGCTGAGAACTGGGTGGGAGAGGAGCTGGGATCCGGGAATGGCAG GTGTCCGCTGAGGGGAACCGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG01891.hp2 HG02922.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0200 a0003c0017t0001g0201 a0003c0017t0001g0200 a0003c0017t0001g0201	2	120	0.0167	422	c.-10 others(441): Show c.-101-6427_-101-6426insTGAGGAGGAGCTGGGACCCGGGAAAT GGCAGGTGTCCTCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCTGGG AATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTC GGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCTGGGGAGGAGCTGGGA CCCTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTG GGACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAG CTGGGACTCGGGAATGGCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAG GAGCTGGGACTTGGGAATGGCAGGTGTCTGCTGAGAACTGGGTGGGAGAG GAGCTGGGATCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3309646	G G	AGGAGGAG others(415): Show AGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGGGAACCGT GTTGAGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGC TGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCCGCTGAGGGG AACCGTGCTGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCTGAG GGGAACCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCT GAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCT GCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACTTGGGAATGGCAGGTG TCTGCTGAGAACTGGGTGGGAGAGGAGCTGGGATCCGGGAATGGCAGGTG TCCGCTGAGGGGAACCGTGCTGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0001 a0003c0047t0001	a0003c0047t0001g0202 a0003c0047t0001g0202	1	303	0.0033	422	c.-10 others(441): Show c.-101-6425_-101-6424insAGGAGGAGCTGGGACCCGGGAAATGG CAGGTGTCCTCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCTGGGAA TGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTCGG GAATGGCAGGTGTCCGCTGAGGGGAACCGTGCTGGGGAGGAGCTGGGACC CTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGG ACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCT GGGACTCGGGAATGGCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAGGA GCTGGGACTTGGGAATGGCAGGTGTCTGCTGAGAACTGGGTGGGAGAGGA GCTGGGATCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(415): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp2 HG03491.hp2 others(2): Show HG01099.hp2 HG02258.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0005 a0002c0006t0005 a0001c0001t0005 a0002c0006t0005	a0001c0001t0005g0359 a0001c0001t0005g0361 a0001c0001t0005g0362 others(2): Show a0001c0001t0005g0359 a0001c0001t0005g0361 a0001c0001t0005g0362 a0002c0006t0005g0365 a0002c0006t0005g0366	5	6	0.8333	422	c.807 others(439): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCT CCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(415): Show GGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0268 a0001c0001t0007g0268	1	2	0.5000	422	c.807 others(439): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCT CCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(415): Show GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGGT TGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGG TTGAGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0120 a0002c0003t0004g0120	1	164	0.0061	422	c.464 others(435): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGG GGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGT GGGGGGGTTGAGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG TGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCCCGTGT others(415): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCATCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0001 a0025c0041t0001	a0025c0041t0001g0258 a0025c0041t0001g0258	1	270	0.0037	422	c.166 others(439): Show c.1663-787_1663-786insCCCGTCCCGTGTCCCTGCCCCATCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(415): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18951.hp1 NA18957.hp1 HG02615.hp2 NA18951.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0031 a0001c0001t0001g0131 a0001c0001t0016g0053 a0001c0001t0001g0031 a0001c0001t0001g0131 a0001c0001t0016g0053	3	42	0.0714	422	c.-30 others(441): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN9_chr17_77276499_77505593	77484739	G G	GTGATGTG others(415): Show GTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTGAT TGTGATGGTGGTGATGTGGGTGGTGGTGATTGTGATGGTTGTGATTGTGA TGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGA GTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTG ATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02630.hp2 others(5): Show HG02451.hp2 HG02559.hp1 HG02630.hp2 HG02818.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0002c0002t0045	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 others(5): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0007g0146 a0001c0001t0017g0140 a0002c0002t0045g0042	8	135	0.0593	422	c.913 others(439): Show c.913+2406_913+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGGTGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484739	G G	GTGATGTG others(415): Show GTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTGAT TGTGATGGTGGTGATGTGGGTGGTGGTGATTGTGATGGTTGTGATTGTGA TGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGA GTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTG ATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02818.hp2 others(4): Show HG02559.hp2 HG02630.hp2 HG02818.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0023 a0001c0001t0054 others(2): Show a0001c0001t0002 a0001c0001t0023 a0001c0001t0054 a0001c0001t0056 a0002c0002t0009	a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0023g0066 others(4): Show a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0023g0066 a0001c0001t0023g0068 a0001c0001t0054g0073 a0001c0001t0056g0075 a0002c0002t0009g0136	7	143	0.0490	422	c.859 others(439): Show c.859+2406_859+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGGTGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401950	C C	CCCGCTCA others(415): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACC CCGCTCACCCCCGGCCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	201	0.0050	422	c.39 others(433): Show c.3945_*3946insTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTG AGCGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGA GCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCG GGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTC GGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTG TGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3765		chr11	TogoVar
SPACA6_chr19_51688330_51710190	51704887	C C	CCCCTCCT others(415): Show CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTCCTTCCACCCGC AGACCCAGAAATCCATGACCCTAGCCCCTCCTCCCTCAGACCCAGGTGTC CAGGACCCCAGCCCCTTCCTCCCTCAGACCCAGGTTTCCATCCAGGCCCC TGGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGTCCTTCCACC CGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTCAGACCCAGGT GTCCAGGACCCCAGCCCTCTCCTCCCTCAGACCCAGGTTTCCATCCAGGC CCCTGGCCCCTCCTCCCGCAGATCCAAGAGTCCAAGCCCCCGGACCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCTCCCTCAGACC CAGGTTTCCATCCAGGCCCCGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	414	0.0024	422	c.942 others(437): Show c.942-188_942-187insCCCAGGAGTCCAGGCCCCCAGTCCTTCCAC CCGCAGACCCAGAAATCCATGACCCTAGCCCCTCCTCCCTCAGACCCAGG TGTCCAGGACCCCAGCCCCTTCCTCCCTCAGACCCAGGTTTCCATCCAGG CCCCTGGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGTCCTTC CACCCGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTCAGACCC AGGTGTCCAGGACCCCAGCCCTCTCCTCCCTCAGACCCAGGTTTCCATCC AGGCCCCTGGCCCCTCCTCCCGCAGATCCAAGAGTCCAAGCCCCCGGACC CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCTCCCTCA GACCCAGGTTTCCATCCAGGCCCCGGACCCTCCTCCCTCAGA	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(415): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGG AAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGA GGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGA AGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	12	0.0833	422	c.34 others(431): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(415): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGAGGGGGAGGTGGGAGGGGGAGAGGGAGGGGGAGGGGGAAGGG GGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAAC GGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAAGGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGGACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0015 a0005c0006t0001g0015	1	12	0.0833	422	c.34 others(431): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCC CCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTTCCCCCTCC CCCTCCCTCTCCCCCTCCCACCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(415): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGA AGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	12	0.0833	422	c.34 others(431): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGC TTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCC CACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCC CCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPG7_chr16_89503403_89562766	89536032	C C	CTGTGGCC others(415): Show CTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCT GTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGC CTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGC CTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTG GTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTCTCTG GTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGT GTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGT GTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCG CTCTGGTGCTGTGTGGCCTTCAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	350	0.0029	422	c.132 others(441): Show c.1324+3426_1324+3427insCTGTGGCCTCTCTGGTGCTGTGTGGC CTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTG GTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGT GTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGT GTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTCTCTGGTGCTGT GTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCT CTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCT TCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGT GCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCA	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(415): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04228.hp1 HG04184.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0113 a0001c0001t0001g0118	2	26	0.0769	422	c.152 others(441): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(415): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCC CGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGC TGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTG GCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCC CCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCC CAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCCCT GCCCGCTCCGAGCTCCGCCCCGG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0075 a0001c0001t0024g0075	1	41	0.0244	422	c.483 others(435): Show c.483+92_483+93insCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGAGGGGGCAGGGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGC GGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGC TAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGA GCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGG GGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCA GGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGGCACTGG GCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGG GCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(415): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATATACATA TATACATATATACATATATACACATATGTGTACATATGTGTATATATACA TATATATACACATATATATGTATATATACACATATGTGTACATATGTGTA TATATACATATATACACATATATATGTATATATACACATATGTGAATATA TATGTGTTATATATACACATATGTGTATATGTATATATGTATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATAACA CATATATATACACATATGTGTATATATACATATATACATATACACATATG TGTATATATAACACATATATATACACATATGTGTATATATACATATATAC ATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	220	0.0045	422	c.158 others(441): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATATACATATATACATATATACATATATACACATAT GTGTACATATGTGTATATATACATATATATACACATATATATGTATATAT ACACATATGTGTACATATGTGTATATATACATATATACACATATATATGT ATATATACACATATGTGAATATATATGTGTTATATATACACATATGTGTA TATGTATATATGTATATATACACATATGTGTATATATACATATATACATA TACACATATGTGTATATATAACACATATATATACACATATGTGTATATAT ACATATATACATATACACATATGTGTATATATAACACATATATATACACA TATGTGTATATATACATATATACATATACACATATGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(415): Show AGAGGGAGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGGA GGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGGG GAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp2 NA18945.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0133 a0001c0002t0008g0135 a0001c0002t0008g0133 a0001c0002t0008g0135	2	171	0.0117	422	c.-18 others(441): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(415): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0061 a0001c0003t0005g0061	1	170	0.0059	422	c.-18 others(441): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCTCCCTCCCCCTCTCTCCCCC CCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(415): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0205 a0001c0002t0062g0205	1	170	0.0059	422	c.-18 others(441): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(415): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG GGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0083 a0001c0004t0006g0083	1	170	0.0059	422	c.-18 others(441): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCC CCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46772292	T T	TACACATA others(415): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACACACATATATGTATACACACACACATATATGTA TACACACATACATATATATGTATACACACACATATATATGTATACACACA CATATATATGTATACACACATACATATATATGTATACACACATACATATA TATGTATACACACATACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	101	0.0099	422	c.62+ others(437): Show c.62+9445_62+9446insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATGTATA CACACACACATATATGTATACACACATACATATATATGTATACACACACA TATATATGTATACACACACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772340	T T	TACACATA others(415): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACACACATATATATGTATACACACACATATATATG TATACACACATACATATATATGTATACACACACATATATATGTATACACA CACATATATATGTATACACACACATATATATGTATACACACATACATATA TATGTATACACACATACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	105	0.0095	422	c.62+ others(437): Show c.62+9493_62+9494insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACATATATATGTATACACACATACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	377080	C C	CTCTGTGC others(415): Show CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCCCCGTGCCCCACCCAGCCTCCCCCCCTCTGTGCCCCACCCAGCCTC CCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCTCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0102 a0001c0001t0007g0102	1	210	0.0048	422	c.-11 others(433): Show c.-1111_-1110insAGGGGGAGAGGCTGGGTGGAGGCACAGAGGGGGA GAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGG GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC GGGGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGGAGGCTGGGTG GGGCACAGAGGGGGGGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1055		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129828687	G G	GGGAGGAG others(415): Show GGGAGGAGGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGA GGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG GAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAGG GAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGAAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGGGAGGAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0035 a0003c0005t0001g0035	1	92	0.0109	422	c.79+ others(439): Show c.79+74573_79+74574insTTTCCTCCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCTTTCCTCCCTTCCTTCTCCCTCCTCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1294163	T T	TCACAGTG others(415): Show TCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCC TTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCCTTT CCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTTTCCCTG CATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATT TCTACGAAAGCCTGCGTGGCTCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	346	0.0029	422	c.183 others(439): Show c.183+1481_183+1482insTGAGCCACGCAGGCTTTCGTAGAAATGC AGGGAAAGGAGACACACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGG AAAGGAGACACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGG AGACACACTGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGA CACACTGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACAC ACTGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACT GTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTG AGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGC CACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar

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