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
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(171): Show ATGTGTGTGTATATATACATATATACTATATGTGTGTATATATATACATA TATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTATA TATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATATAT ATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0117 a0001c0002t0012g0117	1	380	0.0026	178	c.-11 others(189): Show c.-1175_-1174insTGTGTGTGTATATATACATATATACTATATGTGT GTATATATATACATATATACTATATGTGTGTATATATATACATATATACT ATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTGTG TGTATATATATATATATATATATATATATTTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(171): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0112 a0001c0002t0046g0112	1	380	0.0026	178	c.-11 others(189): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATATTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCC_chr18_52335197_53540899	53429030	A A	AATAAATT others(171): Show AATAAATTATATATTATATATTTTATATATAATAAATTATATATTATATA TTTTATATATAATAAATTATATATTATATATTTTATATATAATAAATTAT ATATTATATATTTTATATATAATAAATTATATATTATATATAATAAATTA TATATAACATATATATTTATATATAACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG00738.hp1 others(7): Show HG00280.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG02922.hp1 HG03209.hp2 NA20752.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0001c0007 a0002c0004 others(2): Show a0001c0003 a0001c0007 a0002c0004 a0002c0011 a0009c0019	a0001c0003t0016 a0001c0003t0032 a0001c0007t0003 others(3): Show a0001c0003t0016 a0001c0003t0032 a0001c0007t0003 a0002c0004t0003 a0002c0011t0003 a0009c0019t0005	a0001c0003t0016g0007 a0001c0003t0032g0109 a0001c0007t0003g0025 others(7): Show a0001c0003t0016g0007 a0001c0003t0032g0109 a0001c0007t0003g0025 a0001c0007t0003g0026 a0001c0007t0003g0035 a0001c0007t0003g0099 a0002c0004t0003g0023 a0002c0004t0003g0083 a0002c0011t0003g0090 a0009c0019t0005g0014	10	114	0.0877	178	c.316 others(197): Show c.3164-6111_3164-6110insAATTATATATTATATATTTTATATAT AATAAATTATATATTATATATTTTATATATAATAAATTATATATTATATA TTTTATATATAATAAATTATATATTATATATTTTATATATAATAAATTAT ATATTATATATAATAAATTATATATAACATATATATTTATATATAACATA TA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2C_chr2_3698575_3853008	3725776	A A	AGGTGGAC others(171): Show AGGTGGACCCCGGAGGGAGATGAGCAAAGAGTGACGAGGCTGGCCAGGTG GATCCCGGAGAGAGACTGCCAGAGAGTGATGAGGGTGGCCAGGTGGACCC CGGAGGGAGATGAGTAGAGAGTGATAAGGCTGCTCGGTGGATCCCAGAGG GAGATGAGCAGAGAGTGATGAGGCTGCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00558.hp2 others(35): Show HG00280.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02293.hp1 HG02738.hp2 HG02809.hp1 HG03471.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18966.hp2 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18994.hp2 NA19000.hp2 NA19004.hp2 NA19056.hp2 NA19068.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0005t0001 a0003c0009t0004 a0003c0009t0009	a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0002g0136 others(35): Show a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0002g0136 a0001c0001t0002g0158 a0001c0001t0003g0166 a0001c0001t0005g0271 a0001c0001t0006g0268 a0001c0001t0006g0286 a0001c0001t0006g0301 a0001c0001t0009g0273 a0001c0001t0009g0290 a0001c0001t0012g0269 a0001c0001t0012g0272 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0246 a0001c0002t0002g0003 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0003g0097 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0129 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0139 a0001c0002t0003g0155 a0001c0002t0004g0250 a0001c0002t0004g0256 a0001c0002t0004g0291 a0001c0002t0005g0289 a0001c0002t0005g0292 a0001c0002t0005g0319 a0001c0002t0007g0130 a0001c0002t0007g0131 a0001c0005t0001g0231 a0003c0009t0004g0295 a0003c0009t0009g0270	38	324	0.1173	178	c.340 others(195): Show c.340-1221_340-1220insCCCCGGAGGGAGATGAGCAAAGAGTGAC GAGGCTGGCCAGGTGGATCCCGGAGAGAGACTGCCAGAGAGTGATGAGGG TGGCCAGGTGGACCCCGGAGGGAGATGAGTAGAGAGTGATAAGGCTGCTC GGTGGATCCCAGAGGGAGATGAGCAGAGAGTGATGAGGCTGCTCGGTGGA	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725776	A A	AGGTGGAC others(171): Show AGGTGGACCCCGGAGGGAGATGAGCAAAGAGTGATGAGGCTGGCCAGGTG GATCCCGGAGAGAGACTGCCAGAGAGTGATGAGGGTGGCCAGGTGGACCC CGGAGGGAGATGAGTAGAGAGTGATAAGGCTGCTCGGTGGATCCCAGAGG GAGATGAGCAGAGAGTGATGAGGCTGCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	324	0.0031	178	c.340 others(195): Show c.340-1221_340-1220insCCCCGGAGGGAGATGAGCAAAGAGTGAT GAGGCTGGCCAGGTGGATCCCGGAGAGAGACTGCCAGAGAGTGATGAGGG TGGCCAGGTGGACCCCGGAGGGAGATGAGTAGAGAGTGATAAGGCTGCTC GGTGGATCCCAGAGGGAGATGAGCAGAGAGTGATGAGGCTGCTCGGTGGA	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132134685	T T	TCCCCGAG others(171): Show TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCGCTCCTCCTACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01884.hp1 NA18747.hp1 others(9): Show HG01081.hp2 HG01884.hp1 NA18747.hp1 NA18943.hp1 NA18953.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19066.hp1 NA19068.hp1 NA19083.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0016g0028 a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0016g0028	12	334	0.0359	178	c.45 others(189): Show c.4586_*4587insGAGGTAGGAGGAGCGGGCACCGTGGGCACACTCG GGGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAG GGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGTGGGCACCGTGGGCA CACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1908		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135097	G G	GCTCCTCC others(171): Show GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC CGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG04199.hp1 HG02735.hp2 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	2	334	0.0060	178	c.41 others(189): Show c.4174_*4175insTGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG AGTGGGCACCGTGGGCACACTCGGAGAGGTGGGAGGAGTGGGCACCGTGG GCACACTCGGGAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCGGGGAG GTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1496		chr12	TogoVar
DGAT1_chr8_144309584_144331852	144313736	G G	GCCTCCCC others(171): Show GCCTCCCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCCTCCCCGCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	178	c.28 others(189): Show c.2817_*2818insGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGG GGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGTGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		847		chr8	TogoVar
DGKD_chr2_233349494_233477098	233397157	G G	GGCAGAGG others(171): Show GGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAG AGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCC AGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGT GAGAGGACACCAGAGGGGAGCAGGGTGGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0049 a0001c0004t0049	a0001c0004t0049g0163 a0001c0004t0049g0163	1	336	0.0030	178	c.348 others(195): Show c.348+6674_348+6675insGCAGAGGCCAGAGTGAGAGGACACCAGA GGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGA CCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGG GTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DHRS12_chr13_51762993_51809163	51774757	A A	ATGTATTC others(171): Show ATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTA CATGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCT ACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCC TACATGTATTCTACAGTATTCTCCTACAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	420	0.0024	178	c.364 others(193): Show c.364-724_364-723insATGTAGGAGAATACTGTAGAATACATGTAG GAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTA GGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAATACATGT AGGAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATACA	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCCT others(171): Show CCCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTC CCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTC TCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCC CCCTCTCCCCCTCCCCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0076 a0001c0001t0029g0076	1	284	0.0035	178	c.101 others(197): Show c.101-27236_101-27235insCTCCCCTCTCCCCCTCTCCCCTCCCC CTCCCCTCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCC CCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCC TCTCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCC CC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(171): Show CCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCC CCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCT CCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCCTCCCCTCTCC CCCTCTCCCCCTCCCCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0023 a0007c0020t0023	a0007c0020t0023g0100 a0007c0020t0023g0100	1	284	0.0035	178	c.101 others(197): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCCTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCC CC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598754	T T	TCTCCCCT others(171): Show TCTCCCCTCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCT CTTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCT CCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCC CTCTCCCCTGCCCCTCCCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0104	1	284	0.0035	178	c.101 others(197): Show c.101-27221_101-27220insTCCCCTCCCCCTCCCCTCTCCCCCTC TCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCC TCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCT CCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTGCCCCTCCCCCTCCCCCCT CC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478296	A A	AGGGAGGG others(171): Show AGGGAGGGAGGGGAGGGGAGGGGGAGAAGGGAGGGGAGGGGGGAGGGGAG GGGAGGGAGGTGAGGGGAGGGGGAGGGGAGGGGGAGGTTGGGAGGGGAGG GGAGAGAAGGAGGGGAGGGGAGGGGAGGGGAGAGAAGGGAGGGGAGGGGG AGGGGAGAAGATGGGAGAGAGGAGTGGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0074 a0001c0020t0008g0074	1	88	0.0114	178	c.158 others(195): Show c.158-5748_158-5747insCTCCACTCCTCTCTCCCATCTTCTCCCC TCCCCCTCCCCTCCCTTCTCTCCCCTCCCCTCCCCTCCCCTCCTTCTCTC CCCTCCCCTCCCAACCTCCCCCTCCCCTCCCCCTCCCCTCACCTCCCTCC CCTCCCCTCCCCCCTCCCCTCCCTTCTCCCCCTCCCCTCCCCTCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLG2_chr11_83450173_85632344	84100254	G G	GGTATATA others(171): Show GGTATATATATATCTAAAGAGATATATATATCTAAAGAGATATATATATC TCTAAAGAGATATATATATCTCTAAAGAGATATATATCTAAAGATATATA TCTCTAAAGAGATATATATATCTAAAGATATATATATCTCTAAAGAGATA TATATATCTAAAGATATATATATCTCTAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	14	0.0714	178	c.625 others(195): Show c.625-1208_625-1207insTTAGAGATATATATATCTTTAGATATAT ATATCTCTTTAGAGATATATATATCTTTAGATATATATATCTCTTTAGAG ATATATATCTTTAGATATATATCTCTTTAGAGATATATATATCTCTTTAG AGATATATATATCTCTTTAGATATATATATCTCTTTAGATATATATATAC	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	9/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	84100255	C C	CGATATAT others(171): Show CGATATATATATATCTAAAGAGATATATATATCTAAAGGTATATATATAT CTAAAGAGATATATATATCTAAAGGTATATATATATCTAAAGAGATATAT ATATATCTAAAGAGATATATATCTAAAGATATATATCTCTAAAGAGATAT ATATATATAAAGATATATATATCTCTAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	14	0.0714	178	c.625 others(195): Show c.625-1209_625-1208insTTTAGAGATATATATATCTTTATATATA TATATCTCTTTAGAGATATATATCTTTAGATATATATCTCTTTAGATATA TATATATCTCTTTAGATATATATATACCTTTAGATATATATATCTCTTTA GATATATATATACCTTTAGATATATATATCTCTTTAGATATATATATATC	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	9/27			chr11	TogoVar
DNAH10_chr12_123757301_123940714	123911594	T T	TGGGGGGG others(171): Show TGGGGGGGGGGGTCTGTCCTGGGGGGGGGTTTGTCCTGGGGGGGGTCTGT CCTGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTG GGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGG GAGGGGTCTGTCCTGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0047 a0047	a0047c0063 a0047c0063	a0047c0063t0001 a0047c0063t0001	a0047c0063t0001g0170 a0047c0063t0001g0170	1	170	0.0059	178	c.101 others(197): Show c.10134+931_10134+932insGGTCTGTCCTGGGGGGGGGTTTGTCC TGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGG AGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGG GGGTCTGTCCTGGGGAGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGG GG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI4_chr1_66807885_66929856	66879962	A A	AGTTTTAA others(171): Show AGTTTTAAGAGACCCTGTCTCTTAAAAATAACAACAGGCTGGGCGCCATG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTACGCAGGTGGATCAT GAGGTCAGGAGTTCAAGACCAGCCTGGTCAACACGGTGAAACCCCATCTC TACTAAAAATAGAAAAATTAGCTGGGCAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0262 a0004c0006t0001g0262	1	264	0.0038	178	c.644 others(195): Show c.644-5026_644-5025insATGCCCAGCTAATTTTTCTATTTTTAGT AGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTTGAACTCCTGACCT CATGATCCACCTGCGTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCATGGCGCCCAGCCTGTTGTTATTTTTAAGAGACAGGGTCTCTTAAAAC	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	4/16			chr1	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(171): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATGGGATATATATATCATATATATATCCCATATATATG GGATATATATATCATATATATATCATATATATGGGATATATATATCATAT ATATCATATATATGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	336	0.0030	178	c.22- others(195): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATATGATATATATATC CCATATATATGGGATATATATATGATATATATATCCCATATATATCATAT ATATATCATATATATATCATATATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJC13_chr3_132412502_132544032	132470522	G G	GTGGCCGG others(171): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01243.hp2 others(5): Show HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01884.hp2 HG02451.hp1 HG02717.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0225 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0018t0001g0066	8	318	0.0252	178	c.220 others(197): Show c.2209-2518_2209-2517insCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132470522	G G	GTGGCCGG others(171): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp1 HG02976.hp1 HG02280.hp1 HG02965.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0219	3	318	0.0094	178	c.220 others(197): Show c.2209-2518_2209-2517insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK11_chrX_118490815_118691147	118648004	T T	TTATATAT others(171): Show TTATATATAATATATAATAATATATAATATATTATTATATATAATATATA ATAATATATAATATATTATAATAATATAATATATAATAATATATAATATA TTATAATAATATAATATATAATAATATATAATATATTATAATAATATAAT ATATAATAATATATAATATATTATAATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	211	0.0047	178	c.439 others(195): Show c.4399-937_4399-936insTATAATATATAATAATATATAATATATT ATTATATATAATATATAATAATATATAATATATTATAATAATATAATATA TAATAATATATAATATATTATAATAATATAATATATAATAATATATAATA TATTATAATAATATAATATATAATAATATATAATATATTATAATAATATA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	40/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOK5_chr20_54470593_54656169	54481135	T T	TATCTATC others(171): Show TATCTATCTATCTATCTATCTATCTATCAATCATCTATCATCTATCTATC TATCATCTATCATCTATCTATCATCTATCATCTATCTATCATCTATCATC TATCTATCTATCTATCATCTATCATCTATCTATCATCTATCTATCTATCT ATCATCTATCTATCTATCATGTATCTATC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0108 a0001c0003t0002g0108	1	130	0.0077	178	c.66+ others(193): Show c.66+5150_66+5151insAATCATCTATCATCTATCTATCTATCATCT ATCATCTATCTATCATCTATCATCTATCTATCATCTATCATCTATCTATC TATCTATCATCTATCATCTATCTATCATCTATCTATCTATCTATCATCTA TCTATCTATCATGTATCTATCATCTATCTATCTATCTATCTATCTATC	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(171): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATATAATATATATAATATATATATAAT ATATATATTATATATATTATATATATAATATATATATAATATATATATAA TATATATATTTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 HG02258.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0217 a0001c0001t0001g0223	2	298	0.0067	178	c.554 others(195): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATATAATAT ATATAATATATATATAATATATATATTATATATATTATATATATAATATA TATATAATATATATATAATATATATATTTAAAAGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(171): Show CTCCCTGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	250	0.0040	178	c.-10 others(197): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGC AG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619474	C C	CCTGCAGC others(171): Show CCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTC CATGCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCTGCTCCCCTGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	250	0.0040	178	c.-10 others(197): Show c.-107+5804_-107+5805insGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TGTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCC CC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EBI3_chr19_4224523_4242528	4228331	T T	TCTCTCTC others(171): Show TCTCTCTCTCTCTGTCATCTCCCTGTCTCTGTCTCTCTCTATCTCTGTGT CCTCCTCTCATTTGTCTCTCTGCCTCTCTCATCTGTATCTCTGTCACTGT CTCTGTCATCTCCCTGTCTCTCTATCCCTCTATCTCTGTGTCCTCCTCTC ATCTGTCTCTCTGCCTCTCTCATCTGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	438	0.0023	178	c.-12 others(189): Show c.-1220_-1219insCTCTCTCTCTCTGTCATCTCCCTGTCTCTGTCTC TCTCTATCTCTGTGTCCTCCTCTCATTTGTCTCTCTGCCTCTCTCATCTG TATCTCTGTCACTGTCTCTGTCATCTCCCTGTCTCTCTATCCCTCTATCT CTGTGTCCTCCTCTCATCTGTCTCTCTGCCTCTCTCATCTGTAG	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding		1191		chr19	TogoVar
EBI3_chr19_4224523_4242528	4228337	A A	ACTGTCTC others(171): Show ACTGTCTCTGTCATCTCCCTGTCTCTCTATCCCTCTATCTCTGTGTCCTC CTCTCATCTGTCTCTCTGCCTCTCTCATCTGTAGCTCTCTCTGTCTCTGT CATCTCCCTGTCTCTCTATCCCTCTATCTCTGTGTCCTCCTCTCATCTGT CTCTCTGCCTCTCTCATCTGTAGCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	178	c.-12 others(189): Show c.-1214_-1213insCTGTCTCTGTCATCTCCCTGTCTCTCTATCCCTC TATCTCTGTGTCCTCCTCTCATCTGTCTCTCTGCCTCTCTCATCTGTAGC TCTCTCTGTCTCTGTCATCTCCCTGTCTCTCTATCCCTCTATCTCTGTGT CCTCCTCTCATCTGTCTCTCTGCCTCTCTCATCTGTAGCTCTCT	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding		1185		chr19	TogoVar
EIPR1_chr2_3183970_3382818	3187735	C C	CGCACCCC others(171): Show CGCACCCCTCCCCACGGCCTCCCCACCAGCGTGCCCCTCCCCACAGCCCC CCACCCACCTGCATTCCCCTCCCCACTCCTCACCCACCTATGCACCCCTC CCCACGGCCCCCCAACCAGCGTGTCCCTCCCCACAGCCCCACCCACCTGC ATTCCCCTCCCCACTCCTCACCCACCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	250	0.0040	178	c.15 others(189): Show c.1598_*1599insATAGGTGGGTGAGGAGTGGGGAGGGGAATGCAGG TGGGTGGGGCTGTGGGGAGGGACACGCTGGTTGGGGGGCCGTGGGGAGGG GTGCATAGGTGGGTGAGGAGTGGGGAGGGGAATGCAGGTGGGTGGGGGGC TGTGGGGAGGGGCACGCTGGTGGGGAGGCCGTGGGGAGGGGTGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		1234		chr2	TogoVar
EIPR1_chr2_3183970_3382818	3187749	C C	CGGCCTCC others(171): Show CGGCCTCCCCACCAGCGTGCCCCTCCCCACAGCCCCACCCACCTGCATTC CCCTCCCCACTCCTCACCCACCTATGCACCCCTCCCCACGGCCCCCCAAC CAGCGTGCCCCTCCCCACAGCCCCACCCACCTGCATTCCCCCTCCCCACT CCTCACCCACCTATGCACCCCTCCCCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	250	0.0040	178	c.15 others(189): Show c.1584_*1585insCGTGGGGAGGGGTGCATAGGTGGGTGAGGAGTGG GGAGGGGGAATGCAGGTGGGTGGGGCTGTGGGGAGGGGCACGCTGGTTGG GGGGCCGTGGGGAGGGGTGCATAGGTGGGTGAGGAGTGGGGAGGGGAATG CAGGTGGGTGGGGCTGTGGGGAGGGGCACGCTGGTGGGGAGGCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		1220		chr2	TogoVar
ELL2_chr5_95880098_95966851	95927708	C C	CACACACG others(171): Show CACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACATA CACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGA CATACACACACACGTGTGTATATAGACAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	314	0.0032	178	c.196 others(195): Show c.196-8164_196-8163insATGTCTATATACACACGTGTGTGTGTAT GTCTATATACACACGTGTGTGTGTATGTCTATATACACACGTGTGTGTGT ATGTCTATATACACACGTGTGTGTGTATGTCTATATACACACGTGTGTGT GTATGTCTATATACACACGTGTGTGTGTATGTCTATATACACACGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ERBB3_chr12_56075165_56108505	56075791	C C	CCCCCCCA others(171): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCCGA CGGGGCGGCTGATCGGGCGAGGGGCTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	178	c.-45 others(189): Show c.-4510_-4509insCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC CACCTCCCTCCCCGACGGGGCGGCTGATCGGGCGAGGGGCTGAA	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4373		chr12	TogoVar
ERC1_chr12_986223_1500931	1121859	A A	ATCTGTGC others(171): Show ATCTGTGCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTAAATCTCTAT CTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0096 a0003c0004t0096	a0003c0004t0096g0063 a0003c0004t0096g0063	1	162	0.0062	178	c.156 others(197): Show c.1569+5829_1569+5830insGTGCCTATTGATATATCTGTATATAT CTATCTAAATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTAT ATATCTATCTAAATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGT CT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122439	G G	GCCTATTG others(171): Show GCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTATCTCT ATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGCCT ATTGATATATCTGTATATATCTATCTAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0096 a0003c0004t0096	a0003c0004t0096g0063 a0003c0004t0096g0063	1	162	0.0062	178	c.156 others(197): Show c.1569+6406_1569+6407insCCTATTGATATATCTGTATATATCTA TCTAAATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATC TCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTC TATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTA AA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ESPNL_chr2_238095340_238138287	238118331	A A	AGGTGGAT others(171): Show AGGTGGATGGAGGAGGAATGGATGGAGGAGGAATGGATGGAGGAGGTGGA TGGAGAAGGGTGGATGGAGGAGGGTGGATGGAGGAGGAATGGATGGAAGA GGTGGATGGAGGAGAGTGAATGGAGGAGGTGGATGGAAAAGAGTGGATGG TGGGAGATGGAGGAGGGTGGATGGAGAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0249 a0001c0002t0004g0249	1	408	0.0025	178	c.987 others(195): Show c.987+1364_987+1365insGGAGGGTGGATGGAGGAGGAATGGATGG AAGAGGTGGATGGAGGAGAGTGAATGGAGGAGGTGGATGGAAAAGAGTGG ATGGTGGGAGATGGAGGAGGGTGGATGGAGAAGGGTGGATGGAGGAGGAA TGGATGGAGGAGGAATGGATGGAGGAGGTGGATGGAGAAGGGTGGATGGA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EVPLL_chr17_18372778_18394647	18388032	A A	ATATATAT others(171): Show ATATATATATATACATATATATATATGTATATATATATACACATATATAT ATGTATATATATATACACATATATATATATGTATATATATATATACATAT ATATATATGTATATATATATACATATATATATGTATATATATATACATAT ATATGTATATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0030 a0001c0002t0006g0030	2	408	0.0049	178	c.877 others(193): Show c.877-177_877-176insTACATATATATATATGTATATATATATACA CATATATATATGTATATATATATACACATATATATATATGTATATATATA TATACATATATATATATGTATATATATATACATATATATATGTATATATA TATACATATATATGTATATATATATACATATATATGTGTATATATATA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(171): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA21309.hp1 HG02027.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0008 a0001c0004t0001 a0001c0007t0008	a0001c0004t0001g0067 a0001c0007t0008g0081 a0001c0004t0001g0067 a0001c0007t0008g0081	2	102	0.0196	178	c.187 others(197): Show c.1871+1109_1871+1110insTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTT TT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAF2_chr5_176443385_176515074	176451811	C C	CACATATA others(171): Show CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACACATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	372	0.0027	178	c.63+ others(193): Show c.63+3344_63+3345insTATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451813	C C	CATATATA others(171): Show CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACACATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	372	0.0027	178	c.63+ others(193): Show c.63+3344_63+3345insTATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451817	T T	TATATATA others(171): Show TATATATACATATATATATACACACATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	372	0.0027	178	c.63+ others(193): Show c.63+3354_63+3355insCATATATATATACACACATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM163A_chr1_179738291_179821198	179783722	A A	AATATTTT others(171): Show AATATTTTATATATATATATATTATATAATTTATTATATATATATTATAT AATTTATTATATATATATTATATAATTTATTATATATATATTATATAATT TATTATATATATATTATATAATTTATTATATATATATTATATAATTTATT ATATATATATTATATAATTTATTATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0019 a0001c0001t0020g0019	1	226	0.0044	178	c.-13 others(199): Show c.-135-24074_-135-24073insATTTTATATATATATATATTATAT AATTTATTATATATATATTATATAATTTATTATATATATATTATATAATT TATTATATATATATTATATAATTTATTATATATATATTATATAATTTATT ATATATATATTATATAATTTATTATATATATATTATATAATTTATTATAT ATAT	FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
FASTKD1_chr2_169523508_169578865	169562132	T T	TTTATTAA others(171): Show TTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAATTAAT TATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAATTA ATTATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAAT TAATTATTTATTAATTTATTGTAAATTAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02717.hp1 others(1): Show HG02109.hp1 HG02145.hp2 HG02717.hp1 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0148 a0001c0006t0001g0150 a0001c0006t0001g0153 others(1): Show a0001c0006t0001g0148 a0001c0006t0001g0150 a0001c0006t0001g0153 a0001c0006t0001g0154	4	392	0.0102	178	c.572 others(195): Show c.572+1092_572+1093insTTAATTTACAATAAATTAATAAATAATT AATTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAAATAA TTAATTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAAAT AATTAATTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(171): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATATAAATATATATATTTATATACATATAAATATATATATTTATA TATAAATATATATATTTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG04184.hp1 NA18943.hp2 HG02027.hp2 HG04184.hp1 NA18943.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0033 a0001c0001t0001g0050 a0004c0005t0001g0266 a0001c0001t0001g0033 a0001c0001t0001g0050 a0004c0005t0001g0266	3	292	0.0103	178	c.51 others(189): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATATAA ATATATATATTTATATGTATATAAATATATATATTTATATATAAATATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATAT ATTTATATGTATATAAATATATATATTTATATGTATATAAATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4410		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999000	A A	AATATATG others(171): Show AATATATGTATATACATATAAATATATATGTATATACATATAAATATATA TGTATATACATATATATATGTATATACATATAAATATATATGTATATACA TATATATATGTATATACATATAAATATATATGTATATACATATATATATG TATATACATATATATATATGTATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	292	0.0034	178	c.50 others(189): Show c.5051_*5052insATGTATATACATATATATATATGTATATACATAT ATATATGTATATACATATATATTTATATGTATATACATATATATATGTAT ATACATATATATTTATATGTATATACATATATATATGTATATACATATAT ATTTATATGTATATACATATATATTTATATGTATATACATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4273		chr13	TogoVar
FLT4_chr5_180596506_180654600	180615439	T T	TGGGCCCG others(171): Show TGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCC CCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCGCCG GTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACC TCCCTTCTCCACTTCCTTTCGGAGCACTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18906.hp1 HG02083.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0013 a0002c0002t0001 a0002c0002t0013	a0002c0002t0001g0339 a0002c0002t0013g0165 a0002c0002t0001g0339 a0002c0002t0013g0165	2	388	0.0052	178	c.321 others(195): Show c.3219+927_3219+928insCAGTGCTCCGAAAGGAAGTGGAGAAGGG AGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGA CCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCG GGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180615439	T T	TGGGCCCG others(171): Show TGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCC CCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCGCCG GTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCGCCGGTCACC TCCCTTCTCCACTTCCTTTCGGAGCACTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02809.hp2 others(3): Show HG01167.hp1 HG02109.hp1 HG02809.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1	a0007 a0022 a0023 a0007 a0022 a0023	a0007c0014 a0007c0033 a0022c0046 others(1): Show a0007c0014 a0007c0033 a0022c0046 a0023c0034	a0007c0014t0002 a0007c0014t0009 a0007c0033t0009 others(2): Show a0007c0014t0002 a0007c0014t0009 a0007c0033t0009 a0022c0046t0009 a0023c0034t0009	a0007c0014t0002g0374 a0007c0014t0009g0301 a0007c0014t0009g0302 others(3): Show a0007c0014t0002g0374 a0007c0014t0009g0301 a0007c0014t0009g0302 a0007c0033t0009g0376 a0022c0046t0009g0327 a0023c0034t0009g0287	6	388	0.0155	178	c.321 others(195): Show c.3219+927_3219+928insCAGTGCTCCGAAAGGAAGTGGAGAAGGG AGGTGACCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGA CCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCG GGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180615675	T T	TGGGCCCG others(171): Show TGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCC CCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCGCCG GTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACC TCCCTTCTCCACTTCCTTTCGGAGCACTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0032 a0002c0002t0004g0032	1	388	0.0026	178	c.321 others(195): Show c.3219+691_3219+692insCAGTGCTCCGAAAGGAAGTGGAGAAGGG AGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGA CCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCG GGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180616096	C C	CGGTCACC others(171): Show CGGTCACCTCCCTTCTCCACTTCCTTTCGCAGCACTGGGCCCCGCTGGTC ACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCC CTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTC CACTTCCTTTCGGAGCACTGGGCCCCGCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0223 a0001c0001t0012g0223	1	388	0.0026	178	c.321 others(195): Show c.3219+270_3219+271insAGCGGGGCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCGGCAGGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGG TGACCAGCGGGGCCCAGTGCTGCGAAAGGAAGTGGAGAAGGGAGGTGACC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180616096	C C	CGGTCACC others(171): Show CGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTC ACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCGCCGGTCACCTCC CTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTC CACTTCCTTTCGGAGCACTGGGCCCCGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp2 others(16): Show HG00099.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00738.hp1 HG01891.hp1 HG02056.hp2 HG02165.hp1 HG02683.hp2 HG03704.hp1 NA18941.hp1 NA18943.hp1 NA18979.hp1 NA18980.hp1 NA18984.hp2 NA19012.hp1 NA19077.hp2 NA19090.hp2 NA20805.hp1	a0001 a0002 a0020 others(1): Show a0001 a0002 a0020 a0031	a0001c0001 a0002c0003 a0002c0004 others(3): Show a0001c0001 a0002c0003 a0002c0004 a0002c0041 a0020c0049 a0031c0044	a0001c0001t0005 a0002c0003t0005 a0002c0004t0003 others(5): Show a0001c0001t0005 a0002c0003t0005 a0002c0004t0003 a0002c0004t0005 a0002c0004t0033 a0002c0041t0005 a0020c0049t0005 a0031c0044t0005	a0001c0001t0005g0117 a0002c0003t0005g0103 a0002c0003t0005g0318 others(16): Show a0001c0001t0005g0117 a0002c0003t0005g0103 a0002c0003t0005g0318 a0002c0004t0003g0161 a0002c0004t0005g0053 a0002c0004t0005g0054 a0002c0004t0005g0145 a0002c0004t0005g0156 a0002c0004t0005g0232 a0002c0004t0005g0278 a0002c0004t0005g0280 a0002c0004t0005g0283 a0002c0004t0005g0284 a0002c0004t0005g0322 a0002c0004t0005g0364 a0002c0004t0033g0090 a0002c0041t0005g0140 a0020c0049t0005g0213 a0031c0044t0005g0281	19	388	0.0490	178	c.321 others(195): Show c.3219+270_3219+271insAGCGGGGCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCGGCAGGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGG TGACCAGCGGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXP1_chr3_70949708_71588728	71158113	G G	GAGGAAGG others(171): Show GAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGA GGCAGGGAAGGAGGGAGGGAGGCAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	96	0.0104	178	c.180 others(197): Show c.180+40088_180+40089insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTGCCTCCCTCCCTCCTTCCCT GCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20			chr3	TogoVar

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