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
DOCK1_chr10_126900428_127457516	126948175	T T	TTGGTGGT others(361): Show TTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGG TTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0058 a0001c0006t0007g0058	1	136	0.0074	368	c.47- others(385): Show c.47-22519_47-22518insGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(361): Show ATATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTAAATATACCTATGTGTATGTTTACACATATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGTTTAC ACATATATGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT GTGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	398	0.0025	368	c.477 others(387): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATATTTACACATATATAT GTAAATATACCTATGTGTATGTTTACACATATATATGTAAATATACCTAT GTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTAA ATATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTGTGTTTACACATATATATGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EIPR1_chr2_3183970_3382818	3315372	A A	ATCACCAC others(361): Show ATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCC CCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATACACACCCC CTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCAT CACCACCATCCCCATCCACAGCCCCACCACCATCCTCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTA CCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCAC CACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATC CACAGCCCCACCACCATCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG02630.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0012 a0001c0001t0002g0013	2	250	0.0080	368	c.259 others(387): Show c.259+22644_259+22645insGGATGGTGGTGGGGCTGTGGATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGC TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGT GTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315483	A A	ATCACCAC others(361): Show ATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCC CCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCC CTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCAT CACCACCATCCCCATCCACAGCCCCACCACCATCCTCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTA CCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCAC CACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATC CACAGCCCCACCACCATCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp2 HG01256.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0032 a0001c0001t0001g0033	2	250	0.0080	368	c.259 others(387): Show c.259+22533_259+22534insGGATGGTGGTGGGGCTGTGGATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGC TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGT GGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315555	C C	CCATCACC others(361): Show CCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCATCCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAGC CCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACC ATCACCACCATCCCCATACACACCCCCACCACCATCCTCACCACCATCCC CATACACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCACCACCACCATCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	250	0.0040	368	c.259 others(387): Show c.259+22461_259+22462insATGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGT GGTGGTGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGG TGGTGAGGATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTG GTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGG ATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGG TGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
FHIT_chr3_59742277_61256452	59986789	T T	TATATAAA others(361): Show TATATAAATATATAAATATATTTATATAAATATATTTATATAAATGTATA AATATAAATATATTTATATAAATGTATAAATATAAATATATAAATATAAA TATATTTATATAAATATATAAATATAAATATATTTATATAAATATATACA TATATAAATATAAATATATTTATATAAATATATACATATATAAATATAAA TATATTTATATAAATATATACATATATAAATATAAATATATTTATATAAA TATATACATATATAAATATAAATATATTTATATAAATATATAAATATATA ATATAAATATATTTATATAAATATATTTATATAAATATATAAATATAAAT ATATTTATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19043.hp2 HG02257.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0010g0018 a0001c0001t0001g0001 a0001c0001t0010g0018	2	46	0.0435	368	c.279 others(387): Show c.279+24581_279+24582insTATATATTTATATAAATATATTTATA TTTATATATTTATATAAATATATTTATATAAATATATTTATATTATATAT TTATATATTTATATAAATATATTTATATTTATATATGTATATATTTATAT AAATATATTTATATTTATATATGTATATATTTATATAAATATATTTATAT TTATATATGTATATATTTATATAAATATATTTATATTTATATATGTATAT ATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTATAT TTATATATTTATATTTATACATTTATATAAATATATTTATATTTATACAT TTATATAAATATATTTATATAAATATATTTATATATTTATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60475109	T T	TTAGAATT others(361): Show TTAGAATTACTACTAGGCCGGGCGCGGTGCCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAATAAAAATAAAAAAAAATAAAAAATAAAAAATA AAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 NA19043.hp1 HG02257.hp2 HG02630.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0010 a0002c0004t0005 a0001c0001t0002 a0001c0001t0010 a0002c0004t0005	a0001c0001t0002g0027 a0001c0001t0010g0018 a0002c0004t0005g0014 a0001c0001t0002g0027 a0001c0001t0010g0018 a0002c0004t0005g0014	3	46	0.0652	368	c.103 others(387): Show c.103+61750_103+61751insTTTTATTTTATTTTATTTTTATTTTT TATTTTTTATTTTTTTTTATTTTTATTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGGCACCGCGCCCGGCCTAGTAGTAATTCTA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	5/9			chr3	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(361): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGAGGGGGAGGGGAGAGGGAGAGGGAGACGGGG AGAGGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGA CGGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGAGAC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAG AGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	370	0.0027	368	c.39 others(379): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCCCTCTCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTC CCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCTCCCTCTCCC TCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTC TCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCCTCTCCCCGTCTCCCTCTC CCTCTCCCCTCCCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(361): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGGAGAGGGAGAGGGAGACGGGGGAG AGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GACGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	370	0.0027	368	c.39 others(379): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCCCGTCTCCCT CTCCCTCTCCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTC CCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLT4_chr5_180596506_180654600	180634823	T T	TGGGAGGA others(361): Show TGGGAGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGGGTGGATGGATGCATGGATGGACGGAAGTATGGGTGGATGGGTGGG TGGGTGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTG GGTGGGTGGGTGGATGGATGCATGGATGGAAGTATGGGTGGGTGGGTGGG TGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATG GATGCATGGAGGGAAGTATGGGTGGATGGGTGGGTGGGTGGGAGGATGGA TGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGATGGATGGATG GATGGAAGTATGGGTGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0056 a0002c0002t0004g0056	1	388	0.0026	368	c.59- others(383): Show c.59-3046_59-3045insCTCCACCCATACTTCCATCCATCCATCCAT CCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCATCCTCCC ACCCACCCACCCATCCACCCATACTTCCCTCCATGCATCCATCCACCCAC CCACCCACCCATCCACCCATACTTCCATCCATCCATCCACCCACCCACCC ACCCATACTTCCATCCATGCATCCATCCACCCACCCACCCACCCATCCAC CCATACTTCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCC ACCCATACTTCCGTCCATCCATGCATCCATCCACCCACCCACCCACCCAT CCACCCATACTTCCATCCATCCATGCATCCATCCTCCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(361): Show CCTCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCC CACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCTCCCCCCGCCCAC CCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCT CCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCC CCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCC CCAGCCTACCCCCTCCCCCGCCCACCCACTCTCCCGCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCG CCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	368	c.33 others(379): Show c.3310_*3311insCTCCCCCACCCATCCCTCCTCCCGCCCCCCTCCA GCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTAC CCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCC CACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCACTCTCCC GCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGC CTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GLB1L3_chr11_134271379_134324564	134308472	A A	ACCACCAA others(361): Show ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCATCACCACCACCACCACCACCATCACCACCAAATACCAC CACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATCA CCACCACCACCACCACCATCACCACCAAATACCACCACCACCACCATGTC CACCACCACTACCACCACCATCACCATCACCATCACCACTACCACCACCA CCAGCACCACCACCATCACCATCATCACCATCACCACTACCACCACCACC ACCACCACCACCATCACCACCATCACCACCATCACCATCATCACCATCAC CACCACCACCACCATCACC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0333 a0001c0001t0002g0302 a0001c0001t0002g0333	2	422	0.0047	368	c.962 others(385): Show c.962-1154_962-1153insCCACCAAATACCACCACCACCACCATGT CCACCACCACTACCACCACCATCACCATCACCATCACCACCACCACCACC ACCATCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCA CCACCATCACCATCACCATCACCACCACCACCACCACCATCACCACCAAA TACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCA CCATCACCACTACCACCACCACCAGCACCACCACCATCACCATCATCACC ATCACCACTACCACCACCACCACCACCACCACCATCACCACCATCACCAC CATCACCATCATCACCATCACCACCACCACCACCATCACC	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19			chr11	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(361): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGAGTGTG GGAGGGTGTGGGGTGGGGGTGAGCATGAGTGTGGGAGGGTGTGGGGGTGT GAGTGTGGGAGGGTGTGGGGTGGGGTGAGAGCATGGGAGGGTGTGGGGTG GGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGGGTGAATGTGAGTGT GGGAGGGTGTGGGGTGGGGGTGTGAGTGTGGGAGGGTGTGGGGTGGGGTG TGTGAATGTGTGGGGTGGATGTGTGTGTGAGCGTGGGTTTGTGGGTGTGT GTCAGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01256.hp2 others(8): Show HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02300.hp1 NA18961.hp2 NA18983.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0001 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0148 a0001c0001t0001g0170 a0001c0001t0001g0179 others(8): Show a0001c0001t0001g0148 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0295 a0001c0001t0006g0195 a0001c0001t0011g0016 a0001c0001t0011g0017 a0001c0001t0011g0279 a0001c0001t0011g0281 a0001c0001t0011g0293	11	330	0.0333	368	c.-10 others(385): Show c.-10-3787_-10-3786insCCACACCACACACCCTGACACACACCCA CAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCCCACC CCACACCCTCCCACACTCACACCCCCACCCCACACCCTCCCACACTCACA TTCACCCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACCCCACA CCCTCCCATGCTCTCACCCCACCCCACACCCTCCCACACTCACACCCCCA CACCCTCCCACACTCATGCTCACCCCCACCCCACACCCTCCCACACTCAC ACCCCCACCCCACACCCTCCCACACTCACGCTCACCCCCTACCCCACACC CAGACACACACCCACACACACCCATACTCTCACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPC5_chr13_91393621_92872237	91571765	A A	ATGTGTAT others(361): Show ATGTGTATATATACACACATATACGTGTGTATGTGTATATATACACACAT ATACGTGTGTGTATATATACACACATATACGTGTGTGTATATATACACAC ATATACGTGTGTGTATATATACACACATATACGTGTGTGTATATATACAC ACATATACGTGTGTGTATATATACACACATATACGTGTGTGTATATATAC ACACATATACGTGTGTGTATATATACACACATATACGTGTGTGTATATAT ACACACATATACGTGTGTGTATATATACACACATATACGTGTGTGTATAT ATACACACATATACGTGTGTGTATATATACACACATATACGTGTGTGTAT ATATACACACATATACGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	42	0.0238	368	c.326 others(389): Show c.326-121412_326-121411insTACACACATATACGTGTGTATGTG TATATATACACACATATACGTGTGTGTATATATACACACATATACGTGTG TGTATATATACACACATATACGTGTGTGTATATATACACACATATACGTG TGTGTATATATACACACATATACGTGTGTGTATATATACACACATATACG TGTGTGTATATATACACACATATACGTGTGTGTATATATACACACATATA CGTGTGTGTATATATACACACATATACGTGTGTGTATATATACACACATA TACGTGTGTGTATATATACACACATATACGTGTGTGTATATATACACACA TATACGTGTGTGTATATATACACACATATACGTGTGTGTATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRAMD4_chr22_46615386_46684785	46635286	C C	CCCCCACC others(361): Show CCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCC CGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCC CCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCTG GCCACTCCTGTCCTGGGGGACCGTGTCCTGCCTGTCCCCGCCCCCGGCCA CTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCC TGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGTC CTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGG GGAACCGTGTCCTGCCTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0019 a0001c0007t0019	a0001c0007t0019g0182 a0001c0007t0019g0182	1	328	0.0031	368	c.163 others(385): Show c.163-2550_163-2549insACCCCTGGCCACTCCTGTCCTGGGGGAC CGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTG TCCTGCCTGTCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCT CCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTGCCT GTCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCC CCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGC CCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCT GGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635342	T T	TGGCCACT others(361): Show TGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCAGC CACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACT CCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCCGGCCACTCCTGTCCT GGGGGACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACC GTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGT CCTGCCTGTCCCCGCCCCC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19066.hp1 NA18955.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0309 a0001c0001t0001g0271 a0001c0001t0001g0309	2	328	0.0061	368	c.163 others(385): Show c.163-2485_163-2484insTTGGGGAGCCGTGTCCTCCCTGCCCCCG CCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCC CGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGC CACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCCGGCCACT CCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGG AACCGTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGTC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635378	C C	CCCCCGCC others(361): Show CCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCC CACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCC CCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTC CTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGG GGGACCGTGTCCTGCCTGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0211 a0001c0001t0005g0211	1	328	0.0031	368	c.163 others(385): Show c.163-2434_163-2433insAGGCCGTATCCTCCCTGCCCCCACCCCT GGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCGGCC ACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTC CTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTG GGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGA ACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGGACCG TGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGTCCTGGG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635526	C C	CGGCCACT others(361): Show CGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGC CACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCCCGCCCCCGGCCACT CCTGTCCTGGGAGGCCGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTG TCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCT GGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGG GACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACC GTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCTGTGT CCTCCCTGCCCCCACCCCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	328	0.0031	368	c.163 others(385): Show c.163-2296_163-2295insGAACCGTGTCCTCCCTGCCTCCACCCCT GGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCCCGCCCCCGGCC ACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCCCACCCCTGGCCACTC CTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGT CCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTG GGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGG ACCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCTG TGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635552	G G	GTCCTCCC others(361): Show GTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTATCC TCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCC TGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCC CCCGACCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCG ACCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCC CGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGACCCCGGC CACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCTGGCCACT CCTGTCCTGGGAGGCTGTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0019 a0001c0007t0019	a0001c0007t0019g0182 a0001c0007t0019g0182	1	328	0.0031	368	c.163 others(385): Show c.163-2274_163-2273insACCCCTGGCCACTCCTGTCCTGGGAGGC CGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTG TCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTT CCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCT GCCCCCGACCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCC CCGACCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGA CCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCT GGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCTCCC others(361): Show CTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCC TCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCC CCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	290	0.0035	368	c.427 others(385): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(361): Show ATATATAAATATATATAATATATAAATATATAATATATAAATATATATAA TATATAAATATATAATATATAAATATATATAATATATAAATATATAATAT ATAAATATATATAATATATAAATATATAATATATAAATATATATAATATA TAAATATATAATATATAAATATATATAATATATAAATATATAATATATAA ATATATATAATATATAAATATATAAATATATAACATATAAATATATATAA TATATAAATATATATATAACATATAAATATATATAATATATAAATATATA TATAACATATAAATATATATAATATATAAATATATATATAACATATAAAT ATATATAATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 NA19009.hp2 HG02040.hp1 NA18962.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0001c0001t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066	3	174	0.0172	368	c.199 others(383): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AATATATAAATATATATAATATATAAATATATAATATATAAATATATATA ATATATAAATATATAATATATAAATATATATAATATATAAATATATAATA TATAAATATATATAATATATAAATATATAATATATAAATATATATAATAT ATAAATATATAATATATAAATATATATAATATATAAATATATAAATATAT AACATATAAATATATATAATATATAAATATATATATAACATATAAATATA TATAATATATAAATATATATATAACATATAAATATATATAATATATAAAT ATATATATAACATATAAATATATATAATATATAAATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48834567	C C	CCTGGACT others(361): Show CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGG GTCTGAGGGAGGAAGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGA AGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGAGGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0348 a0002c0002t0001g0348	1	394	0.0025	368	c.128 others(383): Show c.128-210_128-209insACCTCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTC AGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAG ACCCAGGAGTCCAGGCCCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(361): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02129.hp2 HG01123.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0309 a0001c0001t0002g0286 a0001c0001t0002g0309	2	314	0.0064	368	c.661 others(385): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(361): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATTTTATATATTATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18972.hp1 HG02027.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0270 a0001c0001t0002g0261 a0001c0001t0002g0270	2	314	0.0064	368	c.661 others(385): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA ATATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322870	T T	TGGAATAT others(361): Show TGGAATATATATACATGGAATATATATATGGAATATATATACATGGAATA TATATATGGAATATATATACATGGAATATATATATATGGAATATATATAC ATGGAATATATATATGGAATATATATACATGGAATATATATATGGAATAT ATACATATGGAATATATATATGGAATATATACATATGGAATATATATATG GAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATA TATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGG AATATATATATGGAATATATACGTATGGAATATATATATGGAATATATAC GTATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	323	0.0031	368	c.-21 others(379): Show c.-2186_-2185insGGAATATATATACATGGAATATATATATGGAATA TATATACATGGAATATATATATGGAATATATATACATGGAATATATATAT ATGGAATATATATACATGGAATATATATATGGAATATATATACATGGAAT ATATATATGGAATATATACATATGGAATATATATATGGAATATATACATA TGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATA TACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGG AATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATAT ATATGGAATATATACGTATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2099		chr21	TogoVar
IL17RA_chr22_17080000_17120693	17103951	T T	TGTGGTGT others(361): Show TGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGGGAGAGTGGTGTG GCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGAGTGGTGTGGCTGGGAGT GGGGAGCGTGCACAGGTGGAGAGTGTGGTGTGGCTGGGAGTGGGGAGCGT GCACAGGTGGGGAGAGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTG GAGAGAGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGTGTG GTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGTGTGGTGTGGCTG GAGTGGGGAGCGTGCACAGGTGGAGAGTGTGGTGTGGCTGGGAGTGGGGA GCGTGCACAGGTGGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0016 a0004c0004t0016	a0004c0004t0016g0318 a0004c0004t0016g0318	1	416	0.0024	368	c.846 others(383): Show c.846+410_846+411insGGAGAGTGGTGTGGCTGGGAGTGGGGAGCG TGCACAGGTGGAGAGAGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGT GGAGAGTGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGGGAGAGT GGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGAGTGGTGTGGCT GGGAGTGGGGAGCGTGCACAGGTGGAGAGTGTGGTGTGGCTGGGAGTGGG GAGCGTGCACAGGTGGAGAGTGTGGTGTGGCTGGAGTGGGGAGCGTGCAC AGGTGGAGAGTGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGA GAGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGG	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL1A_chr2_112768925_112789493	112776447	T T	TGACCCGC others(361): Show TGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGAC CCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGC CCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCC TCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCCTCCT CTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCCTCCTCTGA ATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCCTCCTCTGAATGT CCTACCCAAAAACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTA CCCAAAAACCCACAACCAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19003.hp2 HG00544.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	358	0.0056	368	c.615 others(385): Show c.615+1172_616-1181dupGTGGTTGTGGGTTTTTGGGTAGGACATT CAGAGGAGGGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGA GGAGGGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAG GGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGG CGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGGCGGG TCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGGCGGGTCGT GGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGGCGGGTCGTGGTT GTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGGCGGGTC	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
KCNT1_chr9_135697185_135800502	135758275	A A	ACAGGCTG others(361): Show ACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAG GCTGCCCCATGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTACAGGCTG CCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCC GTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGG GCCTCAGCCGAGACGCAGGTGTGGCCAGGTACAGGCTGCCCCATGGGCCT CAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGC CGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAG ACACAGGTGTGGCCAGGTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	272	0.0037	368	c.760 others(381): Show c.760-98_760-97insAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAG ACGCAGGTGTGGCCAGGTACAGGCTGCCCCATGGGCCTCAGCCGAGACAC AGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGT GTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACGCAGGTGTGG CCAGGTACAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAG GTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGC AGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGC TGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	9/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA0232_chr4_6777727_6889164	6880119	C C	CAGATCTG others(361): Show CAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCC TTCCCAACACACAGGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCAC TGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCC CTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCGTC TGCAGTGCCCCCCTCACCATCGGTACTGTGTCACTGCAAACTCCCTTCCC AACACAGAGGTCTGCAGTGTCCCCCTCACCATCTGTACTGTGTCACTGCA AACTCCCTTCCCAACACAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	362	0.0028	368	c.400 others(385): Show c.4009-666_4009-665insATCTGCAGTGTCCCCTCACCATCTGTAC TGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCCCCTC ACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGC AGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACA CAGAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTC CCTTCCCAACACACCCGTCTGCAGTGCCCCCCTCACCATCGGTACTGTGT CACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCCCCTCACCA TCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAG	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA1549L_chr11_33371108_33679102	33403300	C C	CACGCAGA others(361): Show CACGCAGACACACAGACACGCAGACACAGATACACATACAGACATACACA CAGGGACACACACACAGACTCAGGGACACACACACACAGACACACAGACA TAGACATATGCAGACACACACAGACACACACATGCAGACACAGACACACA TGGACACACACATGCAGACACGCGGACAGATACACAGACACAGAGACACA CACGCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACACACA CACACATATGCAGACACACAGAAACACACAGACACACATAGACACATGCA CACACACATGCAGACACACACAGACACACACAGACACATGCACACACATG CAGACAGACAGACACACGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 NA19030.hp2 HG02559.hp2 HG02622.hp2 NA19030.hp2	a0001 a0001	a0001c0035 a0001c0091 a0001c0035 a0001c0091	a0001c0035t0073 a0001c0035t0075 a0001c0091t0016 a0001c0035t0073 a0001c0035t0075 a0001c0091t0016	a0001c0035t0073g0014 a0001c0035t0075g0009 a0001c0091t0016g0010 a0001c0035t0073g0014 a0001c0035t0075g0009 a0001c0091t0016g0010	3	226	0.0133	368	c.238 others(387): Show c.238+26411_238+26412insACGCAGACACACAGACACGCAGACAC AGATACACATACAGACATACACACAGGGACACACACACAGACTCAGGGAC ACACACACACAGACACACAGACATAGACATATGCAGACACACACAGACAC ACACATGCAGACACAGACACACATGGACACACACATGCAGACACGCGGAC AGATACACAGACACAGAGACACACACGCAGACAGAGACACAGACATACAC AGAGACCCAGGGACACACACACACACACATATGCAGACACACAGAAACAC ACAGACACACATAGACACATGCACACACACATGCAGACACACACAGACAC ACACAGACACATGCACACACATGCAGACAGACAGACACACGG	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20			chr11	TogoVar
KIF25_chr6_167992671_168050091	167997385	G G	GGCGGGGG others(361): Show GGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGCGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGG GGGAATCTGCAGAGATGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01081.hp1 others(2): Show HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01516.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0039 a0001c0001t0006 a0001c0001t0039	a0001c0001t0006g0002 a0001c0001t0006g0144 a0001c0001t0006g0145 others(2): Show a0001c0001t0006g0002 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0158 a0001c0001t0039g0147	5	375	0.0133	368	c.-20 others(379): Show c.-2084_-2083insGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGCGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCCGGGGGAATCTGCAGAGATGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		285		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997483	G G	GGGGGCGG others(361): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTC GGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATGTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	375	0.0027	368	c.-19 others(379): Show c.-1986_-1985insGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATG TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		187		chr6	TogoVar
KIF27_chr9_83829099_83926432	83848102	G G	GATATATC others(361): Show GATATATCATATATATGATATATATGATATATCATATATATGATATATAT GATATATCATATATATGATATATATGATATATCATATATATGATATATAT GATATATCATATATCTGATATATATGATATATCATATATCTGATATATAT GATATATCATATATCTGATATATATGATATATCATATATCTGATATATAT GATATATCATATATCTGATATATATGATATATCATATATCTGATATATAT GATATATCATATATCTGATATATATGATATATCATATATCTGATATATAT GATATATCATATATCTGATATATATGATATATCATATATCTGATATATCT GATATATCATATATCTGAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	346	0.0029	368	c.355 others(387): Show c.3556+1996_3556+1997insATCAGATATATGATATATCAGATATA TCAGATATATGATATATCATATATATCAGATATATGATATATCATATATA TCAGATATATGATATATCATATATATCAGATATATGATATATCATATATA TCAGATATATGATATATCATATATATCAGATATATGATATATCATATATA TCAGATATATGATATATCATATATATCAGATATATGATATATCATATATA TCAGATATATGATATATCATATATATCAGATATATGATATATCATATATA TCATATATATGATATATCATATATATCATATATATGATATATCATATATA TCATATATATGATATATCATATATATCATATATATGATATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIRREL3_chr11_126418358_127005770	126799379	C C	CGTCTATC others(361): Show CGTCTATCTGTGTGTGTGCGTCTCTGTGTGCATGTATCTGTGTGCATGCA TCTCTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTG TGTGCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTG TGTATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTA TCACTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATG TGCATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGT GTGCGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTAT CTGTGTGCATGTGCATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG01346.hp2 others(11): Show HG00140.hp1 HG01243.hp1 HG01346.hp2 HG01891.hp1 HG01952.hp1 HG02258.hp2 HG02280.hp2 HG02622.hp2 HG02647.hp2 NA18984.hp1 NA19030.hp2 NA19043.hp2 NA19070.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0002c0014	a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0016 a0001c0001t0045 a0001c0001t0046 a0001c0002t0025 a0001c0003t0001 a0001c0003t0028 a0001c0004t0037 a0001c0010t0015 a0002c0014t0002	a0001c0001t0002g0050 a0001c0001t0002g0107 a0001c0001t0005g0016 others(11): Show a0001c0001t0002g0050 a0001c0001t0002g0107 a0001c0001t0005g0016 a0001c0001t0014g0037 a0001c0001t0016g0063 a0001c0001t0045g0036 a0001c0001t0046g0049 a0001c0002t0025g0007 a0001c0003t0001g0098 a0001c0003t0001g0106 a0001c0003t0028g0018 a0001c0004t0037g0051 a0001c0010t0015g0089 a0002c0014t0002g0059	14	114	0.1228	368	c.55+ others(387): Show c.55+201075_55+201076insCACATGCACATGCACACAGATACACA CATGTGCACATGGATACACACATATGCAGATACACATGCGCACACACAGA TACCACATGCACACAGATACATGCACACACACAGCTACATGCACATACAC AGATACACACATTCACACACAGACACATACATGCACACAGTGATACACAC ATGCACACATACAGATATACACATGCACATGCACACAGATACACACATGC ACACAGATACACACATGCACACACAGAGATACACACATGCACACACACAT ACACACATGCACATGCCTACAGGTACACACATGCACACAGAGATGCATGC ACACAGATACATGCACACAGAGACGCACACACACAGATAGAC	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LAIR1_chr19_54346384_54369931	54349469	G G	GAGGGATG others(361): Show GAGGGATGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGATGCAGAT CCTGAGGGTGGATGGATGGAGGACGCAGATCCTGAGGATGGATGGAGGGA GGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGGTG AATGGATGGAGGACGCAGATCCTGAGGGTGGACAGATGGAGGGAGGACGC AGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGATGGA GGGAGGACGCAGATCCTGAGGGTGGATGGATGGAGGACAGAGATCCTGAG GATGGATGGAGGGAGGACGCAGATCCTGAGGGTGAATGGATGGAGGGAGG ACACAGATCCTGAGGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA21309.hp2 HG02970.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0108 a0002c0002t0018g0112 a0002c0002t0018g0108 a0002c0002t0018g0112	2	462	0.0043	368	c.57 others(379): Show c.5798_*5799insTCACCCTCAGGATCTGTGTCCTCCCTCCATCCAT TCACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTCTGTC CTCCATCCATCCACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAG GATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCCTCCCTCCAT CTGTCCACCCTCAGGATCTGCGTCCTCCATCCATTCACCCTCAGGATCTG CGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCATCC TCAGGATCTGCGTCCTCCATCCATCCACCCTCAGGATCTGCATCCTCCCT CCATCCATCCTCAGGATCTGCGTCCTCCATCCCT	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1914		chr19	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(361): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTC CTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTC ACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACAC CACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCC TCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACA GCTCACACCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0259 a0001c0003t0003g0259	1	308	0.0033	368	c.66 others(379): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACA GCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATC CCTCTCCTCACACACCACACAGCTCACACCCCTGTCCTCCTCACACACCA CACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTC CTCACACACCACACAGCTCACACCCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LHPP_chr10_124456823_124619141	124507259	G G	GGGGTAGA others(361): Show GGGGTAGACAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	260	0.0039	368	c.624 others(385): Show c.624+9151_624+9152insCGGGGGGGTAGACAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGG GGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GATAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(361): Show TATATAATATATAATATATAATATATATTTATTAATAATATATATAATAT ATATATTTATTTATATATATATTATTATATGTATATAAATATATATATTT ATTAATATATATAAATATATATATTTATTAATAATATATATAATATATAT AATATATAATATATAATATATAATATATATTTATATATAATATATAATAT ATAATATATAATATATTATATATAATATATTATATATAATTATATATAAT ATATAATTATATATTATATATAATTATATAATATATAATATATATATTAT TATATATATAATAATATATATATAATATATAATTATACATAATATATAAT ATATAATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0147 a0002c0002t0002g0147	1	316	0.0032	368	c.622 others(383): Show c.622-755_622-754insATATAATATATAATATATAATATATATTTA TTAATAATATATATAATATATATATTTATTTATATATATATTATTATATG TATATAAATATATATATTTATTAATATATATAAATATATATATTTATTAA TAATATATATAATATATATAATATATAATATATAATATATAATATATATT TATATATAATATATAATATATAATATATAATATATTATATATAATATATT ATATATAATTATATATAATATATAATTATATATTATATATAATTATATAA TATATAATATATATATTATTATATATATAATAATATATATATAATATATA ATTATACATAATATATAATATATAATTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364365	G G	GCTTACAC others(361): Show GCTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCC ACACTTACACCCACACTTACATCTACCTCCACGCCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACACTTACATCTACCTCCACGCCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTAC ATCTACCTCCACACCCACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0094 a0001c0003t0007g0094	1	290	0.0035	368	c.129 others(387): Show c.1290-1046_1290-1045insTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACACTTACATCTACCTCCACGCCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(361): Show TTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGA GCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCG TATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATT CGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGG ACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCG CCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAG CCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	264	0.0038	368	c.986 others(385): Show c.986+2806_986+2807insGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGA ATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATAC GGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCT CCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTA GAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGA GTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCC ACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210573	C C	CGCATTCC others(361): Show CGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCA TTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCC CGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTG GACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACT CTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGA GCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCG TATTCGGGACCGCCAGCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	264	0.0038	368	c.986 others(385): Show c.986+2638_986+2639insAGGCTGGCGGTCCCGAATACGGCTCCTA GAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGA GTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCC ACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGG GAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAAT GCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGG GCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTG GCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCCA others(361): Show CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACT CACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACC CGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCC CAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCGCAGGCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	388	0.0026	368	c.456 others(385): Show c.456+1574_456+1575insCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCCA others(361): Show CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC CGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCC CAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCGCAGGCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03669.hp2 HG03927.hp1 others(1): Show HG01516.hp1 HG03669.hp2 HG03927.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0313 a0001c0002t0001g0303 a0001c0002t0001g0307 others(1): Show a0001c0001t0001g0313 a0001c0002t0001g0303 a0001c0002t0001g0307 a0001c0002t0001g0308	4	388	0.0103	368	c.456 others(385): Show c.456+1574_456+1575insCGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164310576	A A	ACGAAAAT others(361): Show ACGAAAATGTGTGTTTTTTTTTTTTTTTCTTTTTTAATTATTATTATTAT TATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACAT ATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTA GCATTAGGTATATCTGCCAATGCTATCCCTCCCCCCTCCCCCCACCCCAC CACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCAT TGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTT CTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCT ACAAAGGACATGAACTCAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG02293.hp1 HG00438.hp2 HG01071.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0005 a0001c0002t0002 a0001c0009t0012 a0001c0001t0005 a0001c0002t0002 a0001c0009t0012	a0001c0001t0005g0021 a0001c0002t0002g0020 a0001c0009t0012g0071 a0001c0001t0005g0021 a0001c0002t0002g0020 a0001c0009t0012g0071	3	102	0.0294	368	c.-32 others(389): Show c.-323+73293_-323+73294insATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTGGGGGGAGGGGGGAGGGATAGCATTGGCAGATATACCTAATGCTAGAT GACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAT AATAATAATTAAAAAAGAAAAAAAAAAAAAAACACACATTTTCG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(361): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18984.hp1 NA19065.hp1 NA18969.hp2 NA18984.hp1 NA19065.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0001 a0010c0010t0001 a0001c0001t0001 a0010c0010t0001	a0001c0001t0001g0001 a0010c0010t0001g0027 a0001c0001t0001g0001 a0010c0010t0001g0027	3	288	0.0104	368	c.-31 others(379): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATAATATATAAATTATATATTATATAATTATATTATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATATATAATTATATATAAATTATATA TTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(361): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATTATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	368	c.-31 others(379): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATATATAATTATATATAAATTATATA TTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MCC_chr5_113017106_113493453	113333828	T T	TATATATG others(361): Show TATATATGTACATATATGTATATATGTACATATGTATATATGTACATATA TGTATATATGTACATATATGTATATATGTACATATATGTATATATGTACA TATATGTATATATGTACATATATGTATATATGTACATATATGTATATATG TACATATATGTATATATGTACATATATGTATATATGTACATATATGTATA TATGTACATATATGTATATATGTACATATATGTATATATGTACATATATG TATATATGTACATATATGTATATATGTACATATATGTATATATGTACATA TATGTATATATGTACATATATGTATATATGTACATATATGTATATATGTA CATATATGTATATATGTAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0100 a0001c0003t0001g0100	1	160	0.0063	368	c.627 others(385): Show c.627+6690_627+6691insGTACATATATACATATATGTACATATAT ACATATATGTACATATATACATATATGTACATATATACATATATGTACAT ATATACATATATGTACATATATACATATATGTACATATATACATATATGT ACATATATACATATATGTACATATATACATATATGTACATATATACATAT ATGTACATATATACATATATGTACATATATACATATATGTACATATATAC ATATATGTACATATATACATATATGTACATATATACATATATGTACATAT ATACATATATGTACATATATACATATATGTACATATATACATATATGTAC ATATATACATATGTACATATATACATATATGTACATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MED27_chr9_131855112_132084867	131933009	C C	CAAAAACC others(361): Show CAAAAACCATGCGATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	274	0.0037	368	c.573 others(385): Show c.573+6371_573+6372insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTT TTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGATCGCATGGTTTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	4/7			chr9	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(361): Show ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAG GGTGGGAGCCACACACACCCCCGCCCCACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAGCCACACACACACACCCCCCCACACACACACCCCGCC CCACACACACACCCCCCGCCCCACACACACACACACCCCCCGCCCCACAC ACACACACCCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTG GGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACCCCCGC CCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGG GTGGGAGCCACACACACAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0353 a0001c0002t0003g0353	1	399	0.0025	368	c.557 others(385): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACCC CCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCCACACA CACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCC CCGCCCCACACACACACACCCCCCGCCCCACACACACACACCCCCGCCCC GCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCA CACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCC CCCGCCCCAGGGTGGGAGCCACACACACACCCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(361): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTGTATATAT TATATATAATATATACAATATTGTATATAATATATATAATATATACAATA TTTATATATATTATATATATTATATATAATATATACATATTATATATTAT ATATTATATATATACATATTATATATTATATATATAATATATATACATAT TATATTATATATAATATATATACATACTATATTATATATAATATATATAC ATATTATATTATATATAATATATATACATATTATATATATAATATATAAT ATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02004.hp1 HG02109.hp2 HG00280.hp1 HG02004.hp1 HG02109.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0162 a0003c0005t0001g0165 a0003c0005t0001g0166 a0003c0005t0001g0162 a0003c0005t0001g0165 a0003c0005t0001g0166	3	332	0.0090	368	c.262 others(387): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTGTATATATTATATATAATATATACAATATTGTATA TAATATATATAATATATACAATATTTATATATATTATATATATTATATAT AATATATACATATTATATATTATATATTATATATATACATATTATATATT ATATATATAATATATATACATATTATATTATATATAATATATATACATAC TATATTATATATAATATATATACATATTATATTATATATAATATATATAC ATATTATATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar

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