Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CXorf51B_chrX_146804771_146815411	146812300	C C	CAAATATA others(181): Show CAAATATATGTGTATATACATATATACACAAATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACGTATATACACATA TATGTACACATATGTGTGTGTATATATGTGTGTATATACATATATGTGTA TATACGTATATACACATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02976.hp1 HG02622.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	200	0.0100	188	c.19 others(199): Show c.1992_*1993insAAATATATGTGTATATACATATATACACAAATAT ATGTGTATATACATATATACACATATATGTACACATATATATGTGTATAT ACGTATATACACATATATGTACACATATGTGTGTGTATATATGTGTGTAT ATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATAC ACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CAAATATA others(181): Show CAAATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACGTATATACACATA TATGTACACATATGTGTGTGTATATATGTGTGTATATACATATATGTGTA TATACGTATATACACATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00741.hp2 others(31): Show HG00099.hp1 HG00642.hp1 HG00741.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01978.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02615.hp2 HG02818.hp2 HG03017.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18945.hp1 NA18961.hp1 NA18964.hp2 NA18972.hp1 NA18980.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19070.hp1 NA19079.hp1 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	34	232	0.1466	188	c.19 others(199): Show c.1992_*1993insAAATATATGTGTATATACATATATACACATATAT ATGTGTATATACATATATACACATATATGTACACATATATATGTGTATAT ACGTATATACACATATATGTACACATATGTGTGTGTATATATGTGTGTAT ATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATAC ACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878372	T T	TATATATA others(181): Show TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20300.hp2 HG02451.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0188 a0001c0001t0001g0088 a0001c0001t0001g0188	2	179	0.0112	188	c.192 others(207): Show c.1923+3748_1923+3749insAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(181): Show ATATATGTGTGTATATATATATATATATATATATGTGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATATATATATGTGTAT ATATATATATATATATATATGTGTATATATATATATATATATATATATGT GTATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0103 a0002c0002t0103	a0002c0002t0103g0249 a0002c0002t0103g0249	1	218	0.0046	188	c.290 others(203): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TGTGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATATATATATGTGTATATATATATATATATATATATGTGTATATATATA TATATATATATATATGTGTATATATATATATATATATATATATATATATA TATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(181): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0102 a0001c0002t0005g0102	1	282	0.0035	188	c.-11 others(199): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT TTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCDC1_chr11_30858603_31374739	31213116	T T	TCCCTCTC others(181): Show TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0150 a0005c0005t0001g0150	1	150	0.0067	188	c.122 others(209): Show c.1221+28333_1221+28334insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGG	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(181): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp2 HG01168.hp2 others(9): Show HG00673.hp2 HG01109.hp2 HG01168.hp2 HG02257.hp1 HG02602.hp1 NA18986.hp1 NA18989.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19085.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0025 a0001c0001t0001 a0001c0001t0011 a0001c0001t0025	a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 others(9): Show a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0011g0217 a0001c0001t0025g0246	12	15	0.8000	188	c.126 others(205): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT ATGTATATCATATAATATATAATATATAATTATATATTATATATCATAAT ATGTAATATATAATTATATATTACATATATATATTTTAATATATATAATA TATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DGKD_chr2_233349494_233477098	233397182	T T	TCCAGAGG others(181): Show TCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACC AGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGA GGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGG GACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02293.hp1 HG01243.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0063 a0001c0001t0002g0064	2	323	0.0062	188	c.348 others(205): Show c.348+6721_348+6722insCGGGGGGGGCCAGAGCGAGAGGACACCA GAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAG GGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGG ACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACC AGGGTGGCTG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397302	G G	GCAGAGGC others(181): Show GCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGA GGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGC CAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTG CCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	328	0.0030	188	c.348 others(205): Show c.348+6819_348+6820insCAGAGGCCAGAGTGAGAGGACACCAGAG GGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAC CAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGACCA GGGTGGCTGC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DGKI_chr7_137376037_137851974	137472306	G G	GTATATAC others(181): Show GTATATACATATAATATAATATGTATATACATATAATAATTATATGTATA TACATTAAATATTATATGTATATATACATATAATTATTATATGTATATAT ACATATAATTATATGTATATATACATATAATTATATGTATATATACATAT AATTATTATATGTATATATACATATAATTATTATATGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0051 a0001c0009t0051	a0001c0009t0051g0070 a0001c0009t0051g0070	1	53	0.0189	188	c.237 others(207): Show c.2374-2688_2374-2687insTACATATAATAATTATATGTATATAT ACATATAATAATTATATGTATATATACATATAATTATATGTATATATACA TATAATTATATGTATATATACATATAATAATTATATGTATATATACATAT AATATTTAATGTATATACATATAATTATTATATGTATATACATATTATAT TATATGTATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DIP2C_chr10_269201_694668	417631	G G	GGTTCGAA others(181): Show GGTTCGAATAGGCCTCCCTGTCCGCCTGTGCCTGTCGGCTCAAATAGGCC TCCCTGTCTGCCTGCGCCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACC TACACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGTTCCTGTCAG GGCTTCGATAGGCCTCCCTGTCCACCTGCACCTGTCAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	82	0.0122	188	c.739 others(205): Show c.739+1433_739+1434insTCTGACAGGTGCAGGTGGACAGGGAGGC CTATCGAAGCCCTGACAGGAACAGGTGGACAGGGAGGCCTGTCCGCGCCC TGACAGGTGTAGGTGGACAGGGAGGCCTGTCCGAGCTCTGACAGGCGCAG GCAGACAGGGAGGCCTATTTGAGCCGACAGGCACAGGCGGACAGGGAGGC CTATTCGAAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417631	G G	GGTTCGAA others(181): Show GGTTCGAATAGGCCTCCCTGTCCGCCTGTGCCTGTCGGCTCAAATAGGCC TCCCTGTCTGCCTGCGCCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACC TGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGCACCTGTCAG AGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	82	0.0122	188	c.739 others(205): Show c.739+1433_739+1434insTCTGACAGGTGCAGGTGGACAGGGAGGC CTGTCCGAGCTCTGACAGGTGCAGGTGGACAGGGAGGCCTATCGAAGCCC TGACAGGAACAGGTGGACAGGGAGGCCTGTCCGAGCTCTGACAGGCGCAG GCAGACAGGGAGGCCTATTTGAGCCGACAGGCACAGGCGGACAGGGAGGC CTATTCGAAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516542	G G	GTAAGGTG others(181): Show GTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGG TGGGGGGGGACAGGGGAAGGGGGTAAGGGGGGGACAGGGGGTAGGGTGGG AGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0056 a0001c0007t0007g0056	1	72	0.0139	188	c.86- others(205): Show c.86-30013_86-30012insTACCCCGTCCCCCCCTCCCACCCTACCC CGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTTACCCCCTTCCCCT GTCCCCCCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCC CCTCCCACCCTACCCCCTGTCCCCCCCTTACCCCCTTCCCCTGTCCCACT GTCCACCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1450273	G G	GGAGCTGT others(181): Show GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGA GCTGTGAGGGTGAAGACGAGGTGGGCGGTCTCGGTGGCTGAGGCTGAGCT GTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTG AGGGTGAAGATGAGGTGGGCGGCCTCGGTGGCTGAGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	28	0.0357	188	c.107 others(207): Show c.107-51047_107-51046insTGAGCTGTGAGGGTGAAGACGAGGTG GGCGGTCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGC GGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGATGAGGTGGGCGGC CTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTC GGTGGCTGAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1450367	T T	TGAGCTGT others(181): Show TGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCCCGGTGGCTCGGGCAGA GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCT GTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTG AGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0030 a0003c0005t0002g0030	1	26	0.0385	188	c.107 others(207): Show c.107-50967_107-50966insCCGGTGGCTCGGGCAGAGCTGTGAGG GTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTG AAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAG ACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGATG AGGTGGGCGGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF5_chr7_721699_791475	782395	C C	CCGGCGTG others(181): Show CCGGCGTGGCCGCCTCCCGTCACGCGGCGTCAGAAACTCGCATCTTCCCG GCGTGGCCGCCTCCCGTCACGCGGCGTCAGAAACTCGCATCTTCCTGGTG TGGCCGCCTCCCGTCACGCGGCGTCAGAAACTCGGATCTTCCCGGCGTGG CCGCCTCCCGTCACGCGGCGTCAGAAACTCGGCTCTTCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19240.hp1 HG02280.hp2 NA19240.hp1	a0011 a0017 a0011 a0017	a0011c0018 a0017c0029 a0011c0018 a0017c0029	a0011c0018t0010 a0017c0029t0010 a0011c0018t0010 a0017c0029t0010	a0011c0018t0010g0120 a0017c0029t0010g0119 a0011c0018t0010g0120 a0017c0029t0010g0119	2	374	0.0053	188	c.243 others(207): Show c.2431+2268_2431+2269insGTCACGCGGCGTCAGAAACTCGCATC TTCCCGGCGTGGCCGCCTCCCGTCACGCGGCGTCAGAAACTCGCATCTTC CTGGTGTGGCCGCCTCCCGTCACGCGGCGTCAGAAACTCGGATCTTCCCG GCGTGGCCGCCTCCCGTCACGCGGCGTCAGAAACTCGGCTCTTCGCGGCG TGGCCGCCTCCC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(181): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT TATATATATAATATATATATAATATATATATTATATATATTATATATATA TAATATATATAATATATATATAATATATATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	176	0.0057	188	c.554 others(205): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATTATATATATAATATATATATAATATATATATTATATA TATTATATATATATAATATATATAATATATATATAATATATATATTTAAA AGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
EHMT1_chr9_137614005_137841127	137810110	C C	CGGTGATG others(181): Show CGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGG TGATGGGTCCGGGGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGGTGA TGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGG GTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18906.hp1 HG02280.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0020 a0001c0006 a0001c0020	a0001c0006t0001 a0001c0020t0003 a0001c0006t0001 a0001c0020t0003	a0001c0006t0001g0154 a0001c0020t0003g0149 a0001c0006t0001g0154 a0001c0020t0003g0149	2	138	0.0145	188	c.271 others(207): Show c.2713-1322_2713-1321insCGCCCCGCGTGGACCGTCGGTGATGG GTCCGGGGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTC CGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGG AGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGG CGGTTCCGATGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENOX1_chr13_43208130_43791972	43616103	G G	GATAGATA others(181): Show GATAGATATCTATATATAGATATCTATCTATATAGATATCTATAGATATA TAGATATCTATCTATATAGATATCTATAGATATATAGATATCTATATAGA TAGATATCTATATATAGATATCTATATATAGATATCTATATATAGATATC TATCTATATAGATATCTATATATCTATAGATATCTATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	93	0.0108	188	c.-21 others(209): Show c.-219+51375_-219+51376insATATAGATATCTATAGATATATAG ATATCTATATAGATAGATATCTATATATAGATATCTATATATAGATATCT ATATATAGATATCTATCTATATAGATATCTATATATCTATAGATATCTAT ATAGATAGATATCTATATATCTATAGATATCTATATAGATAGATATCTAT ATATAGATATCTAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(181): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGG AGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGA AAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18959.hp1 NA18970.hp2 others(5): Show HG00558.hp2 NA18959.hp1 NA18970.hp2 NA18975.hp2 NA18997.hp2 NA18998.hp1 NA19009.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0023 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0107	8	251	0.0319	188	c.120 others(205): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCC TGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGT CCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCC TTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403327	G G	GAGAAAGG others(181): Show GAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAA GGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGG ACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	399	0.0025	188	c.120 others(205): Show c.1209-441_1209-440insTCCCCGGCAAACCCCACCCCTTGCTCCC AGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGG AACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGAC CCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCT GTCCCTTTCT	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ERBB3_chr12_56075165_56108505	56091333	A A	ATAAATAT others(181): Show ATAAATATATATATATAAATAATATATATAAATATAAATATATATTACAA ATATATATTATAAATATAAACATATAAATATATATTATATATAAATATAT ATATATTTATGTTTATATTTATAATATATATTTGTAACATATATTTATAT TTATATATAAATTTATATATATATAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0047 a0002c0003t0003g0047	1	237	0.0042	188	c.111 others(207): Show c.1110-1414_1110-1413insTAAATATATATATATAAATAATATAT ATAAATATAAATATATATTACAAATATATATTATAAATATAAACATATAA ATATATATTATATATAAATATATATATATTTATGTTTATATTTATAATAT ATATTTGTAACATATATTTATATTTATATATAAATTTATATATATATAAA ATATATATATAT	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27			chr12	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGCCCC others(181): Show CCCGCCCCGGCCCTTCCGCCGCCCCGCCCCGGCCCTTCCGCCGCCCCGCC CCGGCCCTTCCGCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCC CCCTCCCCCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTC CCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0235 a0002c0005t0001g0235	1	176	0.0057	188	c.304 others(205): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGGGGAGGGGCCGGGGCGGGG CGGGGGGAGGGGGCCGGGGCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGC GGAAGGGCCGGGGCGGGGCGGCGGAAGGGCCGGGGCGGGGCGGCGGAAGG GCCGGGGCGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(181): Show ATATATATACGTATATATATACACACGTATATATATACGTATATATATAC ACACGTATATATATACGTATATATATACACACGTATATATATGTATATAT ATACACGTATATATATATGTATATATATACACACGTATATATATATGTAT ATATATACACACGTATATATATATGTATATATATACACG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18960.hp2 NA18942.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0322 a0001c0001t0003g0303 a0001c0001t0003g0322	2	322	0.0062	188	c.432 others(205): Show c.432-2004_432-2003insCGTGTATATATATACATATATATATACG TGTGTATATATATACATATATATATACGTGTGTATATATATACATATATA TATACGTGTATATATATACATATATATACGTGTGTATATATATACGTATA TATATACGTGTGTATATATATACGTATATATATACGTGTGTATATATATA CGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(181): Show ATATATATACGTATATATATACACACGTATATATATACGTATATATATAC ACACGTATATATATACGTATATATATACACACGTATATATATGTATATAT ATACACGTATATATATATGTATATATATATACACGTATATATATATGTAT ATATATATACACGTATATATATATGTATATATATACACG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0305 a0001c0001t0008g0305	1	321	0.0031	188	c.432 others(205): Show c.432-2004_432-2003insCGTGTATATATATACATATATATATACG TGTATATATATATACATATATATATACGTGTATATATATATACATATATA TATACGTGTATATATATACATATATATACGTGTGTATATATATACGTATA TATATACGTGTGTATATATATACGTATATATATACGTGTGTATATATATA CGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ESPNL_chr2_238095340_238138287	238110402	A A	ATCCCATT others(181): Show ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(118): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18985.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0014 a0026 a0027 a0030 a0032 a0033 a0038 a0039 a0042 a0043	a0001c0005 a0001c0008 a0001c0012 others(46): Show a0001c0005 a0001c0008 a0001c0012 a0001c0016 a0001c0018 a0001c0038 a0001c0048 a0001c0050 a0001c0101 a0002c0001 a0002c0004 a0002c0031 a0002c0066 a0002c0081 a0002c0098 a0002c0103 a0002c0118 a0002c0122 a0003c0009 a0003c0013 a0003c0024 a0003c0044 a0003c0082 a0003c0089 a0004c0037 a0004c0083 a0004c0104 a0005c0019 a0005c0027 a0005c0102 a0006c0006 a0006c0045 a0006c0047 a0006c0051 a0007c0100 a0007c0123 a0008c0023 a0009c0025 a0010c0124 a0014c0125 a0026c0126 a0027c0129 a0030c0095 a0032c0084 a0033c0055 a0038c0099 a0039c0106 a0042c0080 a0043c0105	a0001c0005t0003 a0001c0008t0004 a0001c0012t0003 others(54): Show a0001c0005t0003 a0001c0008t0004 a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 a0001c0018t0001 a0001c0018t0003 a0001c0018t0016 a0001c0038t0009 a0001c0048t0004 a0001c0050t0009 a0001c0101t0016 a0002c0001t0002 a0002c0001t0020 a0002c0004t0007 a0002c0031t0002 a0002c0031t0007 a0002c0066t0007 a0002c0081t0005 a0002c0098t0002 a0002c0103t0002 a0002c0118t0007 a0002c0122t0002 a0003c0009t0006 a0003c0013t0001 a0003c0013t0015 a0003c0024t0001 a0003c0024t0027 a0003c0044t0006 a0003c0082t0006 a0003c0089t0012 a0004c0037t0005 a0004c0083t0005 a0004c0104t0005 a0005c0019t0001 a0005c0027t0001 a0005c0027t0022 a0005c0102t0001 a0006c0006t0003 a0006c0045t0003 a0006c0047t0003 a0006c0051t0003 a0007c0100t0003 a0007c0123t0003 a0008c0023t0010 a0009c0025t0002 a0010c0124t0011 a0014c0125t0002 a0026c0126t0002 a0027c0129t0002 a0030c0095t0006 a0032c0084t0007 a0033c0055t0003 a0038c0099t0003 a0039c0106t0001 a0042c0080t0006 a0043c0105t0026	a0001c0005t0003g0047 a0001c0008t0004g0082 a0001c0012t0003g0019 others(101): Show a0001c0005t0003g0047 a0001c0008t0004g0082 a0001c0012t0003g0019 a0001c0012t0003g0042 a0001c0012t0003g0043 a0001c0012t0003g0045 a0001c0012t0003g0046 a0001c0012t0006g0023 a0001c0012t0006g0076 a0001c0016t0004g0010 a0001c0016t0004g0022 a0001c0016t0004g0077 a0001c0016t0004g0079 a0001c0018t0001g0038 a0001c0018t0001g0213 a0001c0018t0003g0033 a0001c0018t0003g0230 a0001c0018t0003g0262 a0001c0018t0016g0212 a0001c0038t0009g0132 a0001c0048t0004g0265 a0001c0048t0004g0269 a0001c0050t0009g0134 a0001c0101t0016g0008 a0002c0001t0002g0001 a0002c0001t0002g0026 a0002c0001t0002g0128 a0002c0001t0002g0130 a0002c0001t0002g0133 a0002c0001t0002g0137 a0002c0001t0002g0139 a0002c0001t0020g0001 a0002c0004t0007g0122 a0002c0031t0002g0259 a0002c0031t0002g0268 a0002c0031t0002g0275 a0002c0031t0007g0152 a0002c0066t0007g0160 a0002c0081t0005g0023 a0002c0098t0002g0251 a0002c0103t0002g0267 a0002c0118t0007g0153 a0002c0122t0002g0148 a0003c0009t0006g0009 a0003c0009t0006g0053 a0003c0009t0006g0054 a0003c0009t0006g0055 a0003c0009t0006g0056 a0003c0009t0006g0057 a0003c0009t0006g0058 a0003c0013t0001g0136 a0003c0013t0001g0140 a0003c0013t0015g0156 a0003c0024t0001g0224 a0003c0024t0001g0227 a0003c0024t0001g0255 a0003c0024t0001g0264 a0003c0024t0001g0277 a0003c0024t0027g0263 a0003c0044t0006g0074 a0003c0044t0006g0081 a0003c0082t0006g0080 a0003c0089t0012g0115 a0004c0037t0005g0001 a0004c0037t0005g0026 a0004c0083t0005g0021 a0004c0104t0005g0261 a0005c0019t0001g0016 a0005c0019t0001g0135 a0005c0019t0001g0154 a0005c0019t0001g0158 a0005c0027t0001g0009 a0005c0027t0001g0020 a0005c0027t0001g0044 a0005c0027t0001g0078 a0005c0027t0022g0020 a0005c0102t0001g0223 a0006c0006t0003g0121 a0006c0006t0003g0123 a0006c0045t0003g0201 a0006c0047t0003g0033 a0006c0047t0003g0258 a0006c0051t0003g0025 a0007c0100t0003g0222 a0007c0123t0003g0138 a0008c0023t0010g0106 a0008c0023t0010g0119 a0008c0023t0010g0124 a0008c0023t0010g0159 a0009c0025t0002g0008 a0009c0025t0002g0032 a0009c0025t0002g0256 a0009c0025t0002g0260 a0010c0124t0011g0155 a0014c0125t0002g0141 a0026c0126t0002g0001 a0027c0129t0002g0032 a0030c0095t0006g0193 a0032c0084t0007g0041 a0033c0055t0003g0120 a0038c0099t0003g0257 a0039c0106t0001g0228 a0042c0080t0006g0021 a0043c0105t0026g0008	121	286	0.4231	188	c.855 others(205): Show c.855+2430_855+2431insCCCATTTAGGGTGCCATATGTTACCGAG TGTCCCTTTTCTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAG TGTCCCTTTTCTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAG TGTCCCTTTTCTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAG TGTCCCTTTT	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EYA4_chr6_133236357_133537128	133410619	T T	TAGAACTA others(181): Show TAGAACTAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp2 NA18964.hp2 HG00673.hp2 HG01106.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0003g0069 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0003g0069	3	209	0.0144	188	c.83+ others(205): Show c.83+28192_83+28193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGAGAA CTAAGGTCTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
F7_chr13_113100791_113125685	113111373	A A	AGGGCACA others(181): Show AGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCAC ACTCACAGGGCACACTTCACACTCACGGGTCACCTCACACTCCAAGATCA CCTCAAAGAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACC TCACACTCACAGGACACCTCACACAAGACACCTCACACG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp1 HG02040.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	398	0.0050	188	c.225 others(203): Show c.225+664_225+665insGGGTCACCTCACACTCACAGGACACCTCAC ACAAGACACCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACAC TCACAGGACACCTCACACTCACAGGGCACACTTCACACTCACGGGTCACC TCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACACTTC ACACTCAC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(181): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	31	0.0323	188	c.-76 others(205): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(181): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01496.hp2 others(33): Show HG00408.hp2 HG01070.hp1 HG01496.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02080.hp2 HG02155.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02738.hp1 HG03516.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18944.hp1 NA18949.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18973.hp1 NA18989.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19057.hp2 NA19065.hp2 NA19072.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(30): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311	36	66	0.5455	188	c.-76 others(205): Show c.-76-2891_-76-2704dupGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM3B_chr21_41311801_41362727	41313428	A A	AATTTGAT others(181): Show AATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCAT TTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTG ATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATC CATTCTTGAACCTCATCATACAGTATGTATGCATGTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01257.hp2 HG01258.hp2 HG01106.hp1 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0035 a0001c0004t0001g0199 a0001c0001t0001g0035 a0001c0004t0001g0199	3	122	0.0246	188	c.-34 others(199): Show c.-3452_-3451insATTTGATCCATTCTTGAACCTCATCATACAGTAT GTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTA TGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGC ATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATG TCGC	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3372		chr21	TogoVar
FAM83F_chr22_39989954_40048534	40047439	T T	TAAAAATA others(181): Show TAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0123 a0001c0001t0042g0123	1	222	0.0045	188	c.17 others(201): Show c.17874_*17875insAAAAATACAAAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAA	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding		3906		chr22	TogoVar
FBXO11_chr2_47801920_47911498	47900577	C C	CACGTGTG others(181): Show CACGTGTGTATATATACACACACGTATACACGTGTGTATATATACACACG TATATACACACACGTATACACGTGTGTATATATACACACGTATATACACA CGTATACACACACGTACGTATATACACACGTATACACACACGTACGTATA TACACACGTATACACACACGTACGTATATACACACGTAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	307	0.0033	188	c.232 others(205): Show c.232+4911_232+4912insATACGTGTGTATATACGTACGTGTGTGT ATACGTGTGTATATACGTACGTGTGTGTATACGTGTGTATATACGTACGT GTGTGTATACGTGTGTATATACGTGTGTATATATACACACGTGTATACGT GTGTGTATATACGTGTGTATATATACACACGTGTATACGTGTGTGTATAT ATACACACGT	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FGD6_chr12_95071749_95222467	95195689	T T	TCACGCCT others(181): Show TCACGCCTGTAAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACC TGAGGTCGGGAGTTCGAGACCAGACCTGGCCATGTTGGCCATGTTGGCCA TGTTGGCCAGGTCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCC TCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00609.hp2 others(34): Show HG00099.hp2 HG00140.hp2 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02155.hp1 HG02258.hp1 HG02572.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0001c0028 others(1): Show a0001c0001 a0001c0006 a0001c0028 a0005c0015	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 others(14): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0001c0001t0042 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0070 a0001c0006t0005 a0001c0006t0009 a0001c0006t0063 a0001c0006t0069 a0001c0028t0017 a0005c0015t0005 a0005c0015t0062	a0001c0001t0005g0270 a0001c0001t0005g0281 a0001c0001t0005g0291 others(34): Show a0001c0001t0005g0270 a0001c0001t0005g0281 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0304 a0001c0001t0005g0307 a0001c0001t0005g0313 a0001c0001t0008g0303 a0001c0001t0009g0314 a0001c0001t0028g0312 a0001c0001t0029g0308 a0001c0001t0042g0021 a0001c0001t0059g0309 a0001c0001t0060g0296 a0001c0001t0061g0305 a0001c0001t0070g0272 a0001c0006t0005g0202 a0001c0006t0009g0200 a0001c0006t0009g0201 a0001c0006t0009g0204 a0001c0006t0009g0205 a0001c0006t0009g0206 a0001c0006t0009g0208 a0001c0006t0009g0210 a0001c0006t0063g0203 a0001c0006t0069g0207 a0001c0028t0017g0271 a0005c0015t0005g0290 a0005c0015t0062g0289	37	38	0.9737	188	c.244 others(209): Show c.2441+13153_2441+13154insGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGAC CAGACCTGGCCAACATGGCCAACATGGCCAACATGGCCAGGTCTGGTCTC GAACTCCCGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGG GATTTACAGGCGTG	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	2/20			chr12	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(181): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCCTCCCTC CTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCC TTCCCTCCTCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0028 a0028	a0028c0100 a0028c0100	a0028c0100t0001 a0028c0100t0001	a0028c0100t0001g0091 a0028c0100t0001g0091	1	121	0.0083	188	c.426 others(205): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCCTCCCTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCT CCCTCCCTCCCTTCCCTCCTCAGGCCCTGCCCCACCTCCCTCCCTCCATT CCCTCCCCAG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIRRM_chr1_169790040_169859080	169811811	G G	GATTATCT others(181): Show GATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGA TTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATT ATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02965.hp1 others(1): Show HG02451.hp1 HG02486.hp2 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0032 a0001c0001t0010g0223 a0001c0001t0010g0230 a0001c0001t0010g0032 a0001c0001t0010g0223 a0001c0001t0010g0230	4	364	0.0110	188	c.702 others(205): Show c.702+3883_702+3884insTTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAA	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT3_chr13_27998274_28105576	27998891	T T	TTATATAT others(181): Show TTATATATATTTATATATATTTATATACATATAAATATATATTTATATAC ATATAAATATATATATACATATAAATATATATATACATATAAATATATAT ATTTATATACATATAAATATATATATTTATATACATATAAATATATATAT TTATATACATATAAATATATATATTTATATACATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	246	0.0041	188	c.51 others(199): Show c.5160_*5161insTTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATATTTATATGTATATATATATTTATATGTATATATATATT TATATGTATATAAATATATATTTATATGTATATAAATATATATAAATATA TATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4382		chr13	TogoVar
FOXN3_chr14_89151177_89422233	89361916	G G	GCACCACC others(181): Show GCACCACCTCCACCACCACCACCTCCAGCACCACACCTCCACCACCACCA CCTCCAGCACTACCTCCACCACCACCTCCACCACCACCACCTCCACCACC ACCACCTCCAGCACTACCTCCACCACCACCTCCACCACCACCACCTCCAG CACTACCTCCACCACTACCACCTCCAGCACCACCTCCAC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	109	0.0092	188	c.544 others(207): Show c.544-11109_544-11108insGTGGAGGTGGTGCTGGAGGTGGTAGT GGTGGAGGTAGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTAG TGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAG GTAGTGCTGGAGGTGGTGGTGGTGGAGGTGTGGTGCTGGAGGTGGTGGTG GTGGAGGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FTCD_chr21_46131779_46160579	46133597	A A	AAGCTCAC others(181): Show AAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAG CTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGATGAGCTC ACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACC CGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0063 a0004c0007t0007g0063	1	220	0.0045	188	c.33 others(199): Show c.3389_*3390insCATCCCGGAATAGGCTGAGCCCTGGTCCAGTGTG ACTCGGGTGAGCTCATCCCGGAATAGGCTGAGCCCTGGTCCAGTGTGACT CGGGTGAGCTCATCCTAGAATAGGCTGAGCCCTGGTCCAGTGTGACTCGG GTGAGCTCATCCCGGAATAGGCTGAGCCCTGGTCCAGTGTGACTCGGGTG AGCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		3181		chr21	TogoVar
GABRR2_chr6_89249464_89320299	89292369	T T	TATATATA others(181): Show TATATATATATATCAGATATATATCGTATCTCTGATATATATATCAGATA TATATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTGATAT ATATATCAGATATATATCGTATCTCTGATATATATATCAGATATATATCG TATCTCTGATATATATATCAGATATATATCGTATCTCTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0299	1	349	0.0029	188	c.220 others(205): Show c.220+7389_220+7390insCAGAGATACGATATATATCTGATATATA TATCAGAGATACGATATATATCTGATATATATATCAGAGATACGATATAT ATCTGATATATATATCAGAGATACGATATATATCTGATATATATATCAGA GATACGATATATATCTGATATATATATCAGAGATACGATATATATCTGAT ATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GABRR2_chr6_89249464_89320299	89292413	G G	GATATATA others(181): Show GATATATATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTG ATATATATATCAGATATATATCGTATCTCTGATATATATATCAGATATAT ATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTGATATATA TATCAGATATATATCGTATCTCTGATATATATATCAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp1 HG01255.hp2 others(4): Show HG00099.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01516.hp2 HG03491.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0002c0003t0002	a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0002t0003g0212 others(4): Show a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0002t0003g0212 a0001c0002t0005g0211 a0001c0002t0005g0295 a0001c0002t0006g0070 a0002c0003t0002g0271	7	42	0.1667	188	c.220 others(205): Show c.220+7345_220+7346insATCTGATATATATATCAGAGATACGATA TATATCTGATATATATATCAGAGATACGATATATATCTGATATATATATC AGAGATACGATATATATCTGATATATATATCAGAGATACGATATATATCT GATATATATATCAGAGATACGATATATATCTGATATATATATCAGAGATA CGATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241807650	T T	TCCCTCCC others(181): Show TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTC AACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	297	0.0034	188	c.34 others(199): Show c.3484_*3485insCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3364		chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACAATGT others(181): Show TACAATGTATATATAAATTATATATACATTGTATATACAATTTATATATA CATTGTATATACAATTTATATATACATTGTATATACAATTGTATATACAA TGTATATATAAATTGTATATACAATGTATATATAAATTGTATATATAATT TATATATAAATTGTATATACAATTTATATATAAATTATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03098.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0093 a0001c0001t0011g0095 a0001c0001t0011g0093 a0001c0001t0011g0095	2	152	0.0132	188	c.976 others(205): Show c.976-2634_976-2633insACAATGTATATATAAATTATATATACAT TGTATATACAATTTATATATACATTGTATATACAATTTATATATACATTG TATATACAATTGTATATACAATGTATATATAAATTGTATATACAATGTAT ATATAAATTGTATATATAATTTATATATAAATTGTATATACAATTTATAT ATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GAS6_chr13_113815549_113869076	113836743	G G	GGAGGAAG others(181): Show GGAGGAAGAAGATGGGGAGGAAGAGGGGAGTGGGGGAGGAGGAGAAGAAA GAGGAGGCAGGAAGATGAGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGG AGTGGGGGGGAGGAGGAGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGG GGAGGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0075 a0001c0013t0001g0075	1	142	0.0070	188	c.590 others(205): Show c.590-1109_590-1108insTCCTCCCCATCTTCCTCCTCCTCTTTCT TCTCCTCCTCCCCCCACTCCCCCTCCTCCTCCCCCCCACTCCCCTCCTCC TCCCCCCCACTCCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCATCTT CCTGCCTCCTCTTTCTTCTCCTCCTCCCCCACTCCCCTCTTCCTCCCCAT CTTCTTCCTC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GGA2_chr16_23458542_23515494	23514996	A A	AGGATAAA others(181): Show AGGATAAAGGCTAAGTGGGTAGGAAGTGGTTGAGGAGTTTAATGTAGTGG TTGGGTGTGCAGGCATTGTGATTAGAACTATGTTGTTTTCATCTAAGAAA TAAGATAAGTGCCTATTTCATGGGGTTTTTTTTTTCCTTAATCTAAAAGA GATAATATATATATATATAAATATGTATCAGCTGGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0128 a0001c0001t0059g0128	1	252	0.0040	188	c.-47 others(199): Show c.-4773_-4586dupACACCCAGCTGATACATATTTATATATATATATA TTATCTCTTTTAGATTAAGGAAAAAAAAAACCCCATGAAATAGGCACTTA TCTTATTTCTTAGATGAAAACAACATAGTTCTAATCACAATGCCTGCACA CCCAACCACTACATTAAACTCCTCAACCACTTCCTACCCACTTAGCCTTT ATCC	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding		4503		chr16	TogoVar
GJB1_chrX_71218224_71230516	71220142	C C	CTTTTTTT others(181): Show CTTTTTTTTTTTTTTTTTTTTTTGAGACAGCCGGCTAATTTGAGACACCT GGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACCATGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCTGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	125	0.0080	188	c.-32 others(199): Show c.-3210_-3209insTTTTTTTTTTTTTTTTTTTTTTGAGACAGCCGGC TAATTTGAGACACCTGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTT TCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCT GCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTG GCCT	GJB1	ENSG00000169562.13	transcript	ENST00000361726.7	protein_coding		3081		chrX	TogoVar
GLI2_chr2_120730868_120997653	120881779	T T	TGGGGGAA others(181): Show TGGGGGAAGGACAGTGGAGGGAGGGCAGGTGGGGGGAGGACAGTGGGGAG AAGACAGCCGGGGGAGGACAGAGTGGGGAGGACAGTGGGGAGAGGACAGT GGTGGGGAGGGCAGGTGGGGGGAAGGTAGGTGGGGGAAAGGTAGGTGGGG GGAAGGTAGGTGGGGGAGGACAGTGGGGGAGGACAGGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0052 a0001c0003t0006g0052	1	134	0.0075	188	c.149 others(207): Show c.149-45578_149-45577insGAAGGACAGTGGAGGGAGGGCAGGTG GGGGGAGGACAGTGGGGAGAAGACAGCCGGGGGAGGACAGAGTGGGGAGG ACAGTGGGGAGAGGACAGTGGTGGGGAGGGCAGGTGGGGGGAAGGTAGGT GGGGGAAAGGTAGGTGGGGGGAAGGTAGGTGGGGGAGGACAGTGGGGGAG GACAGGTGGGGG	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLIPR1L2_chr12_75386089_75437688	75433540	T T	TTATATAT others(181): Show TTATATATATATATAATGGATTATATATATATATAATGGATTATATATAT ATATATAATGGATTATATATATATATAATGGATTATATATATATATATAA TGGATTATATATATATATATATAATGGATTATATATATATATATATAATG GATTATATATATATATATATATATAATGGATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 NA18522.hp2 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0100 a0001c0001t0002g0101	2	246	0.0081	188	c.23 others(199): Show c.2379_*2380insTATATATATATATAATGGATTATATATATATATA ATGGATTATATATATATATATAATGGATTATATATATATATAATGGATTA TATATATATATATAATGGATTATATATATATATATATAATGGATTATATA TATATATATATAATGGATTATATATATATATATATATATAATGGATTATA TATA	GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding		853		chr12	TogoVar
GNAL_chr18_11684264_11890685	11804297	A A	ATGGAACA others(181): Show ATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGAT GGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGG AACACGGAGATACTGTGTAGTGGTGAAGTACAGGTAAAGTTTGGAACACG GAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18974.hp1 HG02145.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0131 a0001c0001t0112 a0001c0001t0131	a0001c0001t0112g0080 a0001c0001t0131g0126 a0001c0001t0112g0080 a0001c0001t0131g0126	2	236	0.0085	188	c.625 others(207): Show c.625-20581_625-20580insAGTTTGGATGGAACACGGAGATACTG TGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTG TAGTGGTGAAGTACAGGTAAAGTTTGGAACACGGAGATACTGTGTAGTGG TGAAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGTGGTG AAGTACAGGTGC	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11804297	A A	ATGGAACA others(181): Show ATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGAT GGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGG AACACGGAGATACTGTGTAGTGGTGAAGTACAGGTAAAGTTTGGAACACG GAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18974.hp1 HG02145.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0101 a0001c0001t0016 a0001c0001t0101	a0001c0001t0016g0014 a0001c0001t0101g0271 a0001c0001t0016g0014 a0001c0001t0101g0271	2	272	0.0074	188	c.394 others(207): Show c.394-20581_394-20580insAGTTTGGATGGAACACGGAGATACTG TGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTG TAGTGGTGAAGTACAGGTAAAGTTTGGAACACGGAGATACTGTGTAGTGG TGAAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGTGGTG AAGTACAGGTGC	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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