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
ARHGEF10_chr8_1818926_1963641	1873654	G G	GCCGCGGG others(348): Show GCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGC GGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTA GTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCA TCCGCATTTCCTCGCGTTGAGAGGTACCGCGGGGTAGTGCACCCGCATTT CCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAG TTGCCTTCAGAGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTCTTTTCG TTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCGTTGAG AGGTGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0131 a0001c0131	a0001c0131t0005 a0001c0131t0005	a0001c0131t0005g0301 a0001c0131t0005g0301	1	363	0.0028	355	c.680 others(372): Show c.680-2886_680-2885insGCGTTGAGAGGCGCCCGCGGGGTAGTGC ACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGC ATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCATCCGCATTTC CTCGCGTTGAGAGGTACCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCC TTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTCAG AGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTCTTTTCGTTGAGAGGTG CCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCGTTGAGAGGTGCCCGC GGGGTAGTGCACCCGCATTTCCTCGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111221347	A A	AGATATAT others(348): Show AGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGAT ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATAT ATCTATATATAGATATATATGTCTATATATATCTATATATAGATATATAT AGACAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0230 a0001c0001t0005g0230	1	274	0.0037	355	c.670 others(372): Show c.670+3467_670+3468insGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATA TAGATATATATGTCTATATATATCTATATATAGATATATATGTCTATATA TATCTATATATAGATATATATAGACAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112803981	C C	CCCCTCCT others(348): Show CCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCC TTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCC CTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTG CCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCC TCTCTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0024 a0001c0021t0024	a0001c0021t0024g0048 a0001c0021t0024g0048	1	254	0.0039	355	c.163 others(370): Show c.163-971_163-970insCTTCCCTCCTTCACCTCCCTCCCCCCATCC CCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCAT CCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCC ATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCC CCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCC CCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCC CTCCCCCCATCCCCTCTCTGCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN3_chr14_92053552_92111582	92073408	T T	TTAAAAAG others(348): Show TTAAAAAGCAGAAACGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0045 a0045	a0045c0045 a0045c0045	a0045c0045t0086 a0045c0045t0086	a0045c0045t0086g0190 a0045c0045t0086g0190	1	402	0.0025	355	c.873 others(372): Show c.873-2356_873-2355insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCCGTTTCTGCTTTTTA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	9/10			chr14	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(348): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATA TATATC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18747.hp1 NA18945.hp2 others(2): Show HG04199.hp1 NA18747.hp1 NA18945.hp2 NA18957.hp1 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0255 others(2): Show a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0255 a0002c0001t0001g0314 a0002c0001t0001g0315	5	356	0.0140	355	c.249 others(374): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(348): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATA TATATC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18978.hp2 HG03688.hp1 NA18978.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0233 a0002c0001t0001g0336 a0002c0001t0001g0233 a0002c0001t0001g0336	2	356	0.0056	355	c.249 others(374): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(348): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATA TATATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0327 a0002c0001t0001g0327	1	356	0.0028	355	c.249 others(374): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(348): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp2 HG01891.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0196 a0002c0002t0001g0197	2	268	0.0075	355	c.328 others(368): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCKDK_chr16_31103386_31117791	31104757	G G	GGGGGGTC others(348): Show GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG TGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGG CTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG GGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	355	c.-39 others(366): Show c.-3900_-3899insGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3628		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31104757	G G	GGGGGGTC others(348): Show GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG TGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGG CTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGG GGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01261.hp2 HG01175.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	300	0.0067	355	c.-39 others(366): Show c.-3900_-3899insGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGGGGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3628		chr16	TogoVar
BCL2L1_chr20_31659458_31727868	31689279	A A	AGGGGAGG others(348): Show AGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGGGAGGGGAAG GGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGAAGGGGAGGGG AGGGGAAGGGAAGGGGAAGGGGACAGGGAGGGGCGGGGAGTGGAGAGGGA GGGGAGGGGAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGGGGAGGG AAGAGGGAGGGGAGAGGGAGGGGAGGGAAGAGGGAAGGGAGGGGAGGGGA GAGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGGAGGGGAGGG GAGAGGGAGGGGAGGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGAGGGA GGGGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	186	0.0054	355	c.565 others(374): Show c.565-23194_565-23193insCTCCCCTCCCTCTCCCCTCCCCTCCC TCTCCCCTCCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCT CTCCTCCCCTCCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCT CTTCCCTCCCCTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCT TCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCC CTCCCTGTCCCCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCC TCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTCCCCTTC CCCTCCTCTCCTCTTCCCCTCGCCTCCCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
C1orf159_chr1_1076823_1121089	1077338	C C	CTGAGGCT others(348): Show CTGAGGCTATGGGGACTCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT GGGGGGAGGCTGAGGCTATGGCCGTGGGGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCGG GAGGCTGAGGCTATGGGGACCTCCGTGCCGGGAGGGCTGAGGCTATGGGG ACTCCGTGGGGAGGCTGAGGCTATGGGGGACTCCGTGGGGGAGGCTGAGG CTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGG GAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	326	0.0031	355	c.55 others(366): Show c.5554_*5555insAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC ACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCACGGAGTCCCCCAT AGCCTCAGCCTCCCCACGGAGTCCCCATAGCCTCAGCCCTCCCGGCACGG AGGTCCCCATAGCCTCAGCCTCCCGCACGGAGTCCCCATAGCCTCAGCCT CCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATA GCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCCACG GCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCC CCACGAGTCCCCATAGCCTCA	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4484		chr1	TogoVar
C2CD4C_chr19_400445_414147	404899	G G	GGGGGACG others(348): Show GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGC CCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGG GGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCT GAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGAGGGGGGGACGGGGTCCTGTCCTGAGGGGTGTGGGGGGGACGG GGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGG TGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0057 a0002c0005t0057	a0002c0005t0057g0144 a0002c0005t0057g0144	1	322	0.0031	355	c.21 others(366): Show c.2196_*2197insTCCACACCCCTCAGGGCAGGACCCCATCCCCCCT CCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGACAGG ACCCCGTCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCCA CACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACC CCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACAC CCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCG TCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCC TCAGGGCAGGACCCCGTCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		545		chr19	TogoVar
C4orf47_chr4_185421254_185454826	185433603	T T	TAAGAGTG others(348): Show TAAGAGTGAGGATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	358	0.0028	355	c.320 others(372): Show c.320+1417_320+1418insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAGTGAGGATTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C7orf50_chr7_992006_1143247	1038801	G G	GCCCGGCC others(348): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGAGGCC CCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCC CCCCCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	326	0.0031	355	c.130 others(374): Show c.130-28659_130-28658insTGGGGGGGCTGACCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCCTCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C9orf85_chr9_71906639_71978457	71929860	T T	TAAACTTA others(348): Show TAAACTTAAAGATATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	250	0.0040	355	c.103 others(374): Show c.103-17130_103-17129insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACTTAAAGATATCT	C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(348): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19060.hp1 NA19060.hp2 others(1): Show HG01433.hp1 NA19060.hp1 NA19060.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0003g0064 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0003g0064 a0001c0003t0001g0061	4	166	0.0241	355	c.198 others(374): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(348): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGG CGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG CATGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	338	0.0030	355	c.300 others(372): Show c.300-9265_300-9264insATGCATAGGGCCGGAGGCGGGGTACGTG GGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALHM5_chr6_116506639_116529788	116513369	A A	AATGTCTT others(348): Show AATGTCTTGTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0021 a0001c0001t0095g0021	1	402	0.0025	355	c.540 others(372): Show c.540+1149_540+1150insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCATGTCTTGTGTCTTTT	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735747	G G	GGGGGCGG others(348): Show GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGG CGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGG CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGG CGGGGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	342	0.0029	355	c.158 others(372): Show c.1584-204_1584-203insGCCCCGCCCCCAGAACCCCCGCCCCGCC CCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCC CCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCC CCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCC CCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCC CCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCGCCCCGCC CGCAGAACCACCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCC CCCAGAACCCCCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(348): Show TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	410	0.0024	355	c.-22 others(372): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGCCTCCCCCACGTCG TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCTCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC163_chr1_45488866_45505073	45497709	A A	AGGGGGTC others(348): Show AGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCAGGGAGGGAGGTGG TGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCAGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCA GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGG AAGTGG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	408	0.0025	355	c.178 others(370): Show c.178-327_178-326insCCACTTCCCTCCCGGACTGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCTGATGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCACCACCTCCCTCCCTGACGGGGCGG CTGGCCTGGCGGGGGGCTGACCCCC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CDK19_chr6_110604978_110820469	110666104	C C	CAAAGAAT others(348): Show CAAAGAATCTTACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGATTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01952.hp1 NA19009.hp2 HG00609.hp1 HG01952.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0122 a0001c0001t0010g0111 a0001c0001t0010g0115 a0001c0001t0002g0122 a0001c0001t0010g0111 a0001c0001t0010g0115	3	300	0.0100	355	c.456 others(372): Show c.456+1329_456+1330insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAATCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCAACTGTAAGATTCTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CENPJ_chr13_24877279_24927861	24882133	G G	GATATATA others(348): Show GATATATAGATACATCATCTATATAGATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAA TCTATATAGATACATCTATATAGATATATAATCTATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATACATCTATATAGATATATAGATACATCT ATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAT AGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0009 a0022c0027t0009	a0022c0027t0009g0072 a0022c0027t0009g0072	1	440	0.0023	355	c.10 others(366): Show c.1043_*1044insATATCTATATATAGATGTATCTATATATCTATAT AGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGT ATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTAT ATAGATGTATCTATATATCTATATAGATGTATCTATATAGATTATATATC TATATAGATGTATCTATATAGATTATATATCTATATAGATGTATCTATAT ATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATCTAT ATAGATGATGTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		145		chr13	TogoVar
CIDEA_chr18_12249361_12282595	12262175	G G	GAAAAAAA others(348): Show GAAAAAAAAAGTAAATTTTTTTTTCTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	448	0.0022	355	c.39- others(368): Show c.39-631_39-630insTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGTAAATTTTT	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
COL19A1_chr6_69861556_70217468	69920962	G G	GTATATTC others(348): Show GTATATTCATATATATGATATATATCATATATACATATGATATATACATG ATATATATGATATATATGATACATATGATATATATGATATATATGATACA TATGATATATATGATATATATATGATACAAATGATATATATGATATATAT GATATATATCAGATATATATATCATATATATCATTTGTATCATATATACA TCATATATATCATATGTATCATATATATCATGTATATATCATATATATCA TATATATCATATATGTATTCATATATATCATATATATTCATATATAATAT ATATTCATATATAATATATATTCATATATATCATATATATTCATATATAT ATCATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0159 a0002c0004t0012g0159	1	182	0.0055	355	c.267 others(372): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATCATATATATCATTTGTAT CATATATACATCATATATATCATATGTATCATATATATCATGTATATATC ATATATATCATATATATCATATATGTATTCATATATATCATATATATTCA TATATAATATATATTCATATATAATATATATTCATATATATCATATATAT TCATATATATATCATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSF2RA_chrX_1263814_1314935	1307601	T T	TTTCGACT others(348): Show TTTCGACTGATTAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGAT TAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCC CACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCCCACCCTCCCCT TTATACCTTCGACTGATTAGATGAGGCCCACCCTCCCCTTTATACCTTCG ACTGATTAGATGAAGCCCACCATTCTCCTTTATACCTTCGACTGATTAGA TGAAGCCCACGCTTCTCCTTTGGACCTTCAACTGATTAGATGAGGCCCAC CTTTCCCCCTTCAGCCTTTCGACTGATTAGATGAGGCCCACCCTCCCCTT TATACC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01081.hp2 others(26): Show HG00408.hp1 HG00597.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01346.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02683.hp1 HG03239.hp2 HG03491.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 NA18943.hp1 NA18960.hp1 NA18973.hp1 NA18982.hp1 NA18998.hp1 NA19064.hp1 NA19080.hp2 NA19087.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0002c0003t0001 a0002c0003t0004	a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0056 others(26): Show a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0002g0079 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0024 a0001c0001t0003g0087 a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0003g0118 a0001c0001t0003g0124 a0001c0001t0003g0151 a0001c0001t0004g0012 a0001c0001t0004g0019 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0065 a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0001t0004g0114 a0001c0001t0004g0154 a0001c0001t0014g0043 a0001c0001t0015g0027 a0002c0003t0001g0144 a0002c0003t0004g0088	29	159	0.1824	355	c.112 others(374): Show c.1126-1662_1126-1661insACCCTCCCCTTTATACCTTCGACTGA TTAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGATTAGATGAAGC CCACCATTCTCCTTTATACCTTCGACTGATTAGATGAAGCCCACGCTTCT CCTTTGGACCTTCAACTGATTAGATGAGGCCCACCTTTCCCCCTTCAGCC TTTCGACTGATTAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGAT TAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCC CACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCCCACCCTCCCCT TTATACCTTCGACTGATTAGATGAGGCCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF1_chr3_51392842_51505015	51493603	T T	TAGAAATG others(348): Show TAGAAATGAATGAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	274	0.0037	355	c.-9+ others(370): Show c.-9+3130_-9+3131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGT CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTACTTCATTCATTTCT	DCAF1	ENSG00000145041.17	transcript	ENST00000684031.1	protein_coding	2/24			chr3	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(348): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGGTC GGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGGGGGGGTGAGGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	367	0.0027	355	c.-42 others(366): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGGTGGGGGGGTGAGGGGAGTCGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGG GGGGTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(348): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0112 a0008c0013t0001g0112	1	367	0.0027	355	c.-42 others(366): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGG GGGGTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(348): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	367	0.0027	355	c.-42 others(366): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(348): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	367	0.0027	355	c.-42 others(366): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DLGAP1_chr18_3491032_4460307	3566132	T T	TGATAATT others(348): Show TGATAATTAGTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	80	0.0125	355	c.205 others(374): Show c.2057+1357_2057+1358insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGGTCCCGCCACTGCACTCCTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAAAACACTAATTATC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1255626	G G	GTGTGTGT others(348): Show GTGTGTGTCCTCTCATCCTGCCTGGGTGCTATGTGTGTGTCTTCTCCTGC CCAGGTGCTGTGTGTGTGTCCTCTCCTGCCTGGGTGCTGTGTGTGTGCCC TCTCATCCTGTGTGGGTGCTGTGTGTGTCCTCTCCTGCCTGGATGCTGTG TGTGTGTCCTCTCCTGCCCGGGTGCTGTGTGTGTGTCCTCTCATCCTGCC TGGGTGCTATGTGTGTGTCTTCTCCTGCCCGGGCGCTGTGTGTGTGTCCT CTCCTGCCTGGGTGCTTTGTGTGTCCTCTCATGCCTGGGTGCTGTGTGTG TGCCCTCTCATCCTGCGTGGGTGCTGTGTGTGTGTCCTCTCATCCTGCCT GGGTGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	40	0.0250	355	c.74- others(370): Show c.74-3218_74-3217insCCTCTCATCCTGCCTGGGTGCTATGTGTGT GTCTTCTCCTGCCCAGGTGCTGTGTGTGTGTCCTCTCCTGCCTGGGTGCT GTGTGTGTGCCCTCTCATCCTGTGTGGGTGCTGTGTGTGTCCTCTCCTGC CTGGATGCTGTGTGTGTGTCCTCTCCTGCCCGGGTGCTGTGTGTGTGTCC TCTCATCCTGCCTGGGTGCTATGTGTGTGTCTTCTCCTGCCCGGGCGCTG TGTGTGTGTCCTCTCCTGCCTGGGTGCTTTGTGTGTCCTCTCATGCCTGG GTGCTGTGTGTGTGCCCTCTCATCCTGCGTGGGTGCTGTGTGTGTGTCCT CTCATCCTGCCTGGGTGCTGTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(348): Show TTATTGTTACCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0138 a0001c0001t0006g0138	1	212	0.0047	355	c.162 others(368): Show c.162+29_162+30insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
EFCAB12_chr3_129396321_129433636	129417807	T T	TAGAAATA others(348): Show TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	386	0.0026	355	c.681 others(370): Show c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTCTGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCAAAAGATGCTGTATTTCT	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	3/8			chr3	TogoVar
ERP44_chr9_99974185_100104000	100100863	T T	TATAAATT others(348): Show TATAAATTATATATACACATATATAATATATATAATATATATACATATAA TATATATATTATATATACATATATATTATATATATAATATATATTATATA TATAATATATATGTATATATATTATATATACATATATAATATATATTATA TATACATATAATATATATTATATATACATATATAATATATATTATATATA CATATATAATATATATTATATATGCATATATAATATATATATTATATATG CATATATAATATATATATTATATATGCATATATAATATATATTATATATG CATATATAATATATATTATATATGCATATATAATATATATTATATATGCA TATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	220	0.0046	355	c.-20 others(366): Show c.-2024_-2023insTATATATGCATATATAATATATATTATATATGCA TATATAATATATATTATATATGCATATATAATATATATTATATATGCATA TATAATATATATATTATATATGCATATATAATATATATATTATATATGCA TATATAATATATATTATATATGTATATATAATATATATTATATATGTATA TATAATATATATTATATGTATATATAATATATATTATATATGTATATATA ATATATATACATATATATTATATATATAATATATATTATATATATAATAT ATATGTATATATAATATATATATTATATGTATATATATTATATATATTAT ATATGTGTATATATAATTTAT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1864		chr9	TogoVar
ERP44_chr9_99974185_100104000	100100863	T T	TATAAATT others(348): Show TATAAATTATATATACACATATATAATATATATAATATATATACATATAA TATATATATTATATATACATATATATTATATATATAATATATATTATATA TATAATATATATGTATATATATTATATATACATATATAATATATATTATA TATACATATAATATATATTATATATACATATATAATATATATTATATATA CATATATAATATATATTATATATGCATATATAATATATATATTATATATG TATATATAATATATATATTATATATGCATATATAATATATATTATATATG CATATATAATATATATTATATATGCATATATAATATATATTATATATGCA TATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG02922.hp2 others(2): Show HG02572.hp2 HG02895.hp1 HG02922.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016	a0001c0001t0003g0084 a0001c0001t0003g0109 a0001c0001t0004g0108 others(2): Show a0001c0001t0003g0084 a0001c0001t0003g0109 a0001c0001t0004g0108 a0001c0001t0012g0087 a0001c0001t0016g0092	5	220	0.0227	355	c.-20 others(366): Show c.-2024_-2023insTATATATGCATATATAATATATATTATATATGCA TATATAATATATATTATATATGCATATATAATATATATTATATATGCATA TATAATATATATATTATATATACATATATAATATATATATTATATATGCA TATATAATATATATTATATATGTATATATAATATATATTATATATGTATA TATAATATATATTATATGTATATATAATATATATTATATATGTATATATA ATATATATACATATATATTATATATATAATATATATTATATATATAATAT ATATGTATATATAATATATATATTATATGTATATATATTATATATATTAT ATATGTGTATATATAATTTAT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1864		chr9	TogoVar
ERVV-2_chr19_53039740_53056680	53054564	C C	CAGAAGAT others(348): Show CAGAAGATTGAGACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	446	0.0022	355	c.37 others(366): Show c.3705_*3706insAGAAGATTGAGACCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding		2885		chr19	TogoVar
FSTL5_chr4_161378897_162169000	161422779	T T	TCACATTT others(348): Show TCACATTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG02280.hp1 HG02965.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0040 a0004c0006t0001g0079 a0004c0006t0001g0040 a0004c0006t0001g0079	2	142	0.0141	355	c.184 others(376): Show c.1841+32224_1841+32225insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAAGAAATGTG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807448	A A	ACCCTCCC others(348): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC TCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCTCCTCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCT CCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGA CCTCTGCAGGCCACTCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGC CACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	314	0.0032	355	c.32 others(366): Show c.3282_*3283insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCC CTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACTCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCT CCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCTCCTCCCTCAGCCCA GGGACCTCTGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3162		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71272976	C C	CACGATCA others(348): Show CACGATCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTATTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0072 a0001c0001t0010g0072	1	76	0.0132	355	c.239 others(374): Show c.239-62562_239-62561insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTACGATCATTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT9_chr12_132191372_132334589	132241814	C C	CTCCCTAT others(348): Show CTCCCTATACCCATTTACACACACGCCACGCCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATACC CATTAAACACACAACACACCCTTCCAGGGGCCCTCCCTATCCCCATTACA CACACGCCACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACAC AACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACAC ACACTTCCCGGGGCCGTCCCTATACCCATTACACACACAACACACACCCT TCCCAGGGCCGTCCCTATACCCATTACACACACAACACACACCCTTCCCA GGGCCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0023 a0001c0002 a0005c0023	a0001c0002t0005 a0005c0023t0005 a0001c0002t0005 a0005c0023t0005	a0001c0002t0005g0066 a0005c0023t0005g0028 a0001c0002t0005g0066 a0005c0023t0005g0028	2	183	0.0109	355	c.107 others(374): Show c.1077+6095_1077+6096insCGGCCCTGGGAAGGGTGTGTGTTGTG TGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGTTGTGTGTGT AATGGGTATAGGGACGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGG GAAGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGG CCCCTGGAAGGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCCCGGG AAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG CGTGGCGTGTGTGTAAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GATB_chr4_151665504_151766007	151678620	A A	AAACAGAG others(348): Show AAACAGAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTCTTTAGCCCAGG CCGGATTGCAGTGGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCCAGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCAGCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18963.hp2 NA18945.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0138 a0001c0003t0001g0145 a0001c0001t0001g0138 a0001c0003t0001g0145	2	320	0.0063	355	c.141 others(374): Show c.1410+1192_1410+1193insGGCTGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGA TCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAA TACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCA GTGAGCCAAGATTGTGCCACTGCAATCCGGCCTGGGCTAAAGAGCGGGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGCTCTGTT	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	11/12			chr4	TogoVar
GET4_chr7_871554_901436	889983	T T	TCTGGGAG others(348): Show TCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGCCTGGGAGTGGAGGGAGCGCGA GCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCA GGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAG GGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGG ACGGGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01258.hp2 HG01168.hp2 HG01258.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0001 a0001c0008t0001 a0001c0005t0001 a0001c0008t0001	a0001c0005t0001g0273 a0001c0008t0001g0274 a0001c0005t0001g0273 a0001c0008t0001g0274	2	384	0.0052	355	c.467 others(370): Show c.467-927_467-926insTGAGCGGGTGTCAGGACGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGCCTGGGAGTGGAGGGAGCGCG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGA GGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAG GACGGGCCTGGGAGTGGAGGGAGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
HAUS3_chr4_2223349_2247121	2226615	T T	TAACAGTC others(348): Show TAACAGTCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0019 a0003c0004t0019	a0003c0004t0019g0039 a0003c0004t0019g0039	1	330	0.0030	355	c.53 others(366): Show c.5311_*5312insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGATTGGACTGTT	HAUS3	ENSG00000214367.10	transcript	ENST00000443786.3	protein_coding		1733		chr4	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(348): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	270	0.0037	355	c.178 others(374): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(348): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp2 HG02080.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	348	0.0058	355	c.53 others(366): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
ICE2_chr15_60414609_60484142	60481127	T T	TAGGAGAC others(348): Show TAGGAGACAGTGTTTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GGTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0214 a0001c0001t0009g0214	1	270	0.0037	355	c.-22 others(366): Show c.-2218_-2217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGACCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACCACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGT TTCACCGCGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCC CGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCCACAAACACTGTCTCCT	ICE2	ENSG00000128915.12	transcript	ENST00000261520.9	protein_coding		1986		chr15	TogoVar
INO80_chr15_40973880_41121280	41031544	G G	GGGAAGGG others(348): Show GGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGGAGGGAGAAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGA GGGAGGAAGGGAGGAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	282	0.0036	355	c.290 others(374): Show c.2908-3809_2908-3808insTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCTTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTC CCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCC TCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTC CCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCC TTTCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTC CCTTCCTCCCTCCTCCCTTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar

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