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
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(369): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAG GGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGA AGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAG GAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAA GGAGGAGGAGAAGGAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18995.hp2 NA18989.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0305 a0001c0001t0001g0290 a0001c0001t0001g0305	2	396	0.0051	376	c.807 others(393): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCT CCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(369): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAG GGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGA AGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGGAGGAGGAGGAG GAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAA GGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	396	0.0025	376	c.807 others(393): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCT CCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RUBCN_chr3_197663867_197741904	197679872	C C	CCAGACTG others(369): Show CCAGACTGTCCTGTGCTCTGACAACTGGCTTCAGACTGTCCTACGCTCTG ACAACTGGCTCCAGACTGTCCTACGCTCTGACAACTGGCTCCAGACTGTC CTACGCTCTAACTGACAACTGGCTTCAGATTGTCCTGTGCTCTGACAACT GGCTTCAGACTGTCCTACGCTCTGACAACTGGCTTCAGACTGTCCTACGC TCTAACTGACAACTGGCTTCAGACTGTCCTGTGCTCTGACAACTGGCTTC AGACTGTCCTACGCTCTGACAACTGGCTCCAGACTGTCCTACGCTCTGAC AACTGGCTCCAGACTGTCCTACGCTCTAACTGACAACTGGCTCCAGACTG TCCTGTGCTCTAACTGACAACTGGCTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0092 a0012c0017t0001g0092	1	186	0.0054	376	c.243 others(394): Show c.2430+881_2430+1256dupAAGCCAGTTGTCAGTTAGAGCACAGGA CAGTCTGGAGCCAGTTGTCAGTTAGAGCGTAGGACAGTCTGGAGCCAGTT GTCAGAGCGTAGGACAGTCTGGAGCCAGTTGTCAGAGCGTAGGACAGTCT GAAGCCAGTTGTCAGAGCACAGGACAGTCTGAAGCCAGTTGTCAGTTAGA GCGTAGGACAGTCTGAAGCCAGTTGTCAGAGCGTAGGACAGTCTGAAGCC AGTTGTCAGAGCACAGGACAATCTGAAGCCAGTTGTCAGTTAGAGCGTAG GACAGTCTGGAGCCAGTTGTCAGAGCGTAGGACAGTCTGGAGCCAGTTGT CAGAGCGTAGGACAGTCTGAAGCCAGTTGTCAGAGCACAGGACAGTCTG	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	16/19			chr3	TogoVar
SCARA5_chr8_27864883_27997673	27919014	A A	AGGAGGAG others(369): Show AGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAG GAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGA AGAGGAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGG AAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAG AAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAG GAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAG GAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGGAATAGAGGAGGA GGAGAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0006 a0001c0022t0006	a0001c0022t0006g0025 a0001c0022t0006g0025	1	314	0.0032	376	c.916 others(393): Show c.916+2556_916+2557insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTC CCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCTCTT CCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCC TCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1288849	T T	TCCCCCGT others(369): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	290	0.0035	376	c.166 others(393): Show c.1662+815_1662+816insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289053	T T	TCCCGTGT others(369): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	290	0.0035	376	c.166 others(395): Show c.1662+1029_1662+1030insCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289067	T T	TCCGTCCC others(369): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0023 a0023	a0023c0044 a0023c0044	a0023c0044t0002 a0023c0044t0002	a0023c0044t0002g0099 a0023c0044t0002g0099	1	290	0.0035	376	c.166 others(395): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289433	C C	CCGTGTCT others(369): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCATGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	290	0.0035	376	c.166 others(393): Show c.1663-837_1663-836insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCATGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(369): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTA CTTCCTCTCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCT CCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTTCTTTA CTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTA CTTCCTCCCTCCCTCCTTTACTTGCTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0051 a0001c0005t0051	a0001c0005t0051g0030 a0001c0005t0051g0030	1	116	0.0086	376	c.332 others(395): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACT TCCTCTCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCC CTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTTCTTTACT TCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTCCTTTACTTGCTCCCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(369): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGA GCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19079.hp2 NA19082.hp2 others(1): Show NA18989.hp1 NA19079.hp2 NA19082.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0262 a0001c0001t0001g0269 a0002c0002t0001g0246 others(1): Show a0001c0001t0001g0262 a0001c0001t0001g0269 a0002c0002t0001g0246 a0002c0002t0001g0260	4	370	0.0108	376	c.-30 others(395): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SLC12A7_chr5_1045384_1117063	1098623	C C	CCCCCCTC others(369): Show CCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGT CTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTAACC CTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGC CCCCCTCTAACCCTCTGCACACCCAGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	118	0.0085	376	c.125 others(393): Show c.125-4376_125-4375insTCTGGGTGTGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGG GGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGG GTTAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGA CGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTG CAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGG TGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(369): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGG GGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGA CGCGGGGGGGGCGGGGGGGGCAGGAGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19030.hp2 HG02717.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0055 a0001c0001t0007 a0001c0001t0055	a0001c0001t0007g0087 a0001c0001t0055g0201 a0001c0001t0007g0087 a0001c0001t0055g0201	2	222	0.0090	376	c.914 others(395): Show c.914-32089_914-32088insCCTCCTGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCC TCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTC CCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGC CCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCTCCCGCCCC CCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(369): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCGCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	314	0.0032	376	c.209 others(393): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGCGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(369): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19010.hp2 NA19090.hp1 others(1): Show HG00609.hp1 NA19010.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0180 a0001c0001t0002g0193 others(1): Show a0001c0001t0002g0166 a0001c0001t0002g0180 a0001c0001t0002g0193 a0001c0001t0002g0196	4	314	0.0127	376	c.209 others(393): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(369): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGACTCGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	314	0.0032	376	c.209 others(393): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGTCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(369): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00621.hp1 others(17): Show HG00408.hp1 HG00438.hp2 HG00621.hp1 HG01433.hp1 HG02027.hp1 HG02074.hp1 HG04184.hp1 HG04228.hp1 NA18963.hp2 NA18972.hp1 NA18983.hp1 NA18990.hp2 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19072.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0001 a0001c0007t0001 a0005c0006t0001 a0001c0001t0001 a0001c0007t0001 a0005c0006t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 others(17): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0007t0001g0118 a0005c0006t0001g0007	20	314	0.0637	376	c.209 others(393): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(369): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGT CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0310 a0001c0004t0004g0310	1	314	0.0032	376	c.209 others(393): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGA CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(369): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01071.hp1 others(25): Show HG00099.hp2 HG00738.hp1 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01975.hp2 HG02027.hp2 HG02083.hp2 HG02683.hp1 HG03491.hp1 HG03492.hp2 HG03834.hp1 NA18939.hp1 NA18946.hp1 NA18952.hp1 NA18953.hp2 NA18961.hp2 NA18981.hp1 NA18986.hp2 NA18998.hp2 NA19011.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0001 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0012g0028	28	314	0.0892	376	c.209 others(393): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC5A9_chr1_48217716_48253638	48244802	T T	TTATATAT others(369): Show TTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTA TATTATATATAAATTATATTTATATTA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19000.hp1 NA18966.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0211 a0002c0002t0003g0232 a0002c0002t0003g0211 a0002c0002t0003g0232	2	420	0.0048	376	c.183 others(395): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATAAATTATATTTATATTATATATATAAATTATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A12_chr12_185081_219157	197078	C C	CATCCATC others(369): Show CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCA TCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0376 a0002c0002t0014g0376	1	420	0.0024	376	c.107 others(393): Show c.1076-197_1076-196insAGATGGATGGATGGATGGATGGATGGGT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	ACTATATA others(369): Show ACTATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATTATGTATAATATATAT TATATATTATATATATATTATATATATTATGTATAATATATATTATATAT TATATATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATAATATATATTATATATTATATATATATTAT ATATATTATGTATAATATATATTATATATTATATATATATTATATATATT ATGTATAATATATATTATATATTATATATATATTATATATATTATGTATA ATATATATTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0241 a0001c0001t0085g0241	1	310	0.0032	376	c.784 others(391): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATATTATACATAATATATATAATATATATATAATATATAATA TATATTATACATAATATATATAATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATAG	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGGAG others(369): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGG AGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGA AAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAG GGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGA CAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAG GGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGT CCCAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	380	0.0026	376	c.-31 others(387): Show c.-3199_-3198insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCC TTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTT CTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTC CCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCC CGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGG CAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCCGGCAA ACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403393	A A	AGGGAGCA others(369): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCTGG GAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCTGGGAG CAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAA GGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGG GTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTG GGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGG TTTGCCGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTT GCCGGGGAAGAAAGGGACAGGGTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0120 a0001c0012t0001g0120	1	380	0.0026	376	c.-32 others(387): Show c.-3270_-3269insAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCC ACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACC CCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCT TGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGC TCCCAGGAACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCC CAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCAG GAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCAGGAA CCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3224		chr9	TogoVar
SNTG2_chr2_945849_1372613	1111962	C C	CAGTCCTT others(369): Show CAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATAC TCCTTTGAGGAGGATCGTGAGTACTAAGTGAGGTTTAACCCTTAGAGTCC TTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTT GAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAG GAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAG GATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAAT CGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGATCGT GTGTACTAAGTGAGGTTTAACCCTTAG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	190	0.0053	376	c.325 others(395): Show c.325+13563_325+13564insAAGAATCGTGTGTACTAAGTGAGGTT TAACCCTTATACTCCTTTGAGGAGGATCGTGAGTACTAAGTGAGGTTTAA CCCTTAGAGTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCC TTACAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTA TACTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAGAG TCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCC TTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTT GAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRXN1_chr20_641615_658200	642068	G G	GGGGGGGG others(369): Show GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	422	0.0024	376	c.66 others(387): Show c.6645_*6646insGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCACCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4546		chr20	TogoVar
SRXN1_chr20_641615_658200	642132	G G	GGGGGGGG others(369): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGCGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0139 a0001c0001t0028g0139	1	422	0.0024	376	c.65 others(387): Show c.6581_*6582insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCGCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4482		chr20	TogoVar
SS18L2_chr3_42585860_42601934	42596737	T T	TAGAAAGG others(369): Show TAGAAAGGAGATATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	388	0.0026	376	c.22 others(387): Show c.2244_*2245insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAGATATTTT	SS18L2	ENSG00000008324.12	transcript	ENST00000011691.6	protein_coding	3/3	2245	INFO_REALIGN_3_PRIME	chr3	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(369): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCCGCCCCCGCCCAGTGCC CCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCT CCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTG CTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCT GGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCC CCCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGC CCCTGCCCGCTCCGAGCTTCGCCCCGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0272 a0001c0001t0014g0272	1	388	0.0026	376	c.483 others(389): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGC AGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGG GCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGGCAC TGGGCGGGGGCGGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGG CGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(369): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCCGCCCAGTGCC CCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCT CCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTG CTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCT GGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCC CCCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGC CCCTGCCCGCTCCGAGCTTCGCCCCGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	388	0.0026	376	c.483 others(389): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGC AGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGG GCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGGCAC TGGGCGGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGG CGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(369): Show AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0266 a0001c0001t0003g0266	1	268	0.0037	376	c.75 others(387): Show c.7546_*7547insATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4167		chr10	TogoVar
TAF4_chr20_61969798_62070881	61979627	C C	CAGAGGGA others(369): Show CAGAGGGACTGCGGCCCGTGCAGGCGCCATGGCCACTCCAGAGGGACTGC GGCCCGTGCAGGCGCGATGGCCACTCCAGAGGGACTGTGGCCCGTGCAGG CGCGGTGGCCACTCCAGAGGGACTGCGGCCCATGCAGGCGCGACGGCCTC TAGAGGGACTGTGGCATGTGCAGGCGCCATGGCCACTCCAGAGGGACTGC GGCCCGTGCAGGCGCCATGGCCACTCCAGAGGGACTGCGGCCCGTGCAGG CGCCATGGCCACTCCAGAGGGACTGCGGCCCGTGCAGGCGCCATGGCCAC TCCAGAGGGACTGCGGCCCGTGCAGGCGCCATGGCCACTCCAGAGGGACT GCGGCCCATGCAGGCGCGACGGCCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	314	0.0032	376	c.309 others(395): Show c.3091-3293_3091-3292insAGAGGCCGTCGCGCCTGCATGGGCCG CAGTCCCTCTGGAGTGGCCATGGCGCCTGCACGGGCCGCAGTCCCTCTGG AGTGGCCATGGCGCCTGCACGGGCCGCAGTCCCTCTGGAGTGGCCATGGC GCCTGCACGGGCCGCAGTCCCTCTGGAGTGGCCATGGCGCCTGCACGGGC CGCAGTCCCTCTGGAGTGGCCATGGCGCCTGCACATGCCACAGTCCCTCT AGAGGCCGTCGCGCCTGCATGGGCCGCAGTCCCTCTGGAGTGGCCACCGC GCCTGCACGGGCCACAGTCCCTCTGGAGTGGCCATCGCGCCTGCACGGGC CGCAGTCCCTCTGGAGTGGCCATGGCGCCTGCACGGGCCGCAGTCCCTCT	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(369): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGG GAGGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATG GGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	314	0.0032	376	c.309 others(395): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCCT CCCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCC ACGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATC CCCCTGCTGCACCCTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCC CTCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCC TGCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCT CCCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(369): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGGAGAGGG AGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGC GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGG AGGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGG GGGGAGGGAGGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	314	0.0032	376	c.309 others(395): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCC TCCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCC ACGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATC CGCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCC TCCCTCTCCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCC CGCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCT CCCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(369): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGGCGGCGGGGAGAGGG AGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGC GGATGGAGGGCGTGGGGGGAGGGAGGGGGGCGGCGGGGGGGAGGGAGGGC GTGGAGGGGGAGGGAGGGTGTGGGGGGGAGGGAGAGGGCGGCGGGAGGAG GGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATG GGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0024 a0024	a0024c0029 a0024c0029	a0024c0029t0001 a0024c0029t0001	a0024c0029t0001g0021 a0024c0029t0001g0021	1	314	0.0032	376	c.309 others(395): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCTCTCCCTCCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCGCCGCCCCCCTCCCTCCCCCCACGCCCTCCATC CGCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCC TCCCTCTCCCCGCCGCCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCC CGCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCT CCCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46772316	T T	TACACATA others(369): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACACATATA TATGTATACACACACACATATATATGTATACACACACATATATATGTATA CACACATACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACACACATATATATGTATACACACACACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	112	0.0089	376	c.62+ others(391): Show c.62+9469_62+9470insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACACATATATATGTATACACACACACATATATATGTATACA CACACATATATATGTATACACACATACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACACACATATATATGTA TACACACACACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628747	C C	CGGGAAGG others(369): Show CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGCGGGAAGGGGACA GCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0097 a0001c0004t0008g0097	1	352	0.0028	376	c.299 others(393): Show c.299-1322_299-1321insACCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTG CTGTCCCCTTCCCGCATCACCCCCTGTGAGCTCTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	376769	T T	TGTACCCC others(369): Show TGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCCCCCCGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCAC CCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCG TGCCTCCACCCAGCCTCTCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0120 a0001c0001t0040g0120	1	370	0.0027	376	c.-80 others(385): Show c.-800_-799insGGGGGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGAGGCA CGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACGGGGGGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		744		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747471	G G	GCTGGGGT others(369): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0156 a0001c0001t0108g0156	1	314	0.0032	376	c.189 others(391): Show c.189-822_189-821insTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM65_chr8_124301189_124377701	124302505	A A	ACTTATAT others(369): Show ACTTATATATAAATATATATTCTTTTATATACATATATATATTCTTTTAT ATATTTATATATAAATATATATTCTTTTATATATTTATATATAAATATAT ATTCTTTTATATATTTATATATATATTCTTTTATATATTTATATATAAAT ATTCTTTTATATATTTATAAATAAATATTCTTTTATATATTTATATATAA ATATTCTTTTATATATTTATATATAAATATTCTTTTATATATTTATATAT AAATATTCTTTTATATATTTATATATAAATATTCTTTTATATATTTATAT ATAAATATTCTTTTATATATTTATATATAAATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA18978.hp1 NA19002.hp2 HG02602.hp2 NA18978.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0034 a0001c0001t0005 a0001c0001t0022 a0001c0001t0034	a0001c0001t0005g0288 a0001c0001t0022g0287 a0001c0001t0034g0013 a0001c0001t0005g0288 a0001c0001t0022g0287 a0001c0001t0034g0013	3	348	0.0086	376	c.11 others(389): Show c.11454_*11455insAATATATAAAAGAATATATATTTATATATAAA TATATAAAAGAATATTTATATATAAATATATAAAAGAATATTTATATATA AATATATAAAAGAATATTTATATATAAATATATAAAAGAATATTTATATA TAAATATATAAAAGAATATTTATATATAAATATATAAAAGAATATTTATA TATAAATATATAAAAGAATATTTATTTATAAATATATAAAAGAATATTTA TATATAAATATATAAAAGAATATATATATAAATATATAAAAGAATATATA TTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AGAATATATATATGTATATAAAAGAATATATATTTATATATAAG	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3683		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(369): Show TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTTTTATATATTT ATATATAAATATATATTTTTATATATTTATATATAAATATATATTCTTTT ATATATTTATATATATATTTATATATAAATATATATTCTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAAAT ATATATTCTTTTATATATTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02818.hp1 HG01496.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0044 a0001c0001t0010 a0001c0001t0044	a0001c0001t0010g0320 a0001c0001t0044g0028 a0001c0001t0010g0320 a0001c0001t0044g0028	2	348	0.0058	376	c.11 others(389): Show c.11218_*11219insTATATATAAATATATAAAAGAATATATATTTA TATATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAA TATATATTTATATATAAATATATAAAAGAATATATATTTATATATAAATA TATAAAAGAATATATATTTATATATAAATATATATATAAATATATAAAAG AATATATATTTATATATAAATATATAAAAATATATATTTATATATAAATA TATAAAAATATATATTTATATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAGAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TOLLIP_chr11_1269371_1314632	1294443	A A	AGTGTGTC others(369): Show AGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGT GTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTG TCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCT CCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCT TTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTC CCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCT GCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCA TTTCTACGAAAGCCCGCGTGGCTCACG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03471.hp1 HG03486.hp1 HG01943.hp2 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0024 a0001c0005t0004 a0001c0001t0024 a0001c0005t0004	a0001c0001t0024g0185 a0001c0005t0004g0012 a0001c0001t0024g0185 a0001c0005t0004g0012	3	348	0.0086	376	c.183 others(393): Show c.183+1201_183+1202insCGTGAGCCACGCGGGCTTTCGTAGAAAT GCAGGAAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCA GGAAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGG AAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAA GGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGA GACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGAC ACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACA CCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294490	A A	AGTGTGTC others(369): Show AGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGT GTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTG TCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCT CCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCT TTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTC CCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCT GCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCA TTTCTACGAAAGCCCGCGTGGCTCACG	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19240.hp1 HG03041.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0303 a0001c0001t0005g0292 a0001c0001t0005g0303	2	348	0.0058	376	c.183 others(393): Show c.183+1154_183+1155insCGTGAGCCACGCGGGCTTTCGTAGAAAT GCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCA GGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGG AAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAA GGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGA GACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGAC ACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACA CCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930756	C C	CGGGGTTA others(369): Show CGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCG GGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGT TAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	466	0.0022	376	c.48 others(387): Show c.4834_*4835insTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4613		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGTTAGG others(369): Show GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCC AGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0171 a0002c0002t0009g0171	1	466	0.0022	376	c.47 others(387): Show c.4712_*4713insGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGC CTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCGG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCC CTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TPD52_chr8_80029745_80176564	80072347	G G	GTGTGTGT others(369): Show GTGTGTGTGTGTGTATGTGTGTATATACATGTACACATAGATATGCGTGT ATATACATGTACACATAGATATGCGTGTATATACATGTACACATAGATAT GCGTGTATATACATGTACACATAGATATGCGTGTATATACATGTACACAT AGATATGCGTGTATATACATGTACACATAGATATGCGTGTATATACATGT ACACATAGATATGCGTGTATATACATGTACACATAGATATGCGTGTATAT ACATGTACACATAGATATGCGTGTATATACATGTACACATAGATATGCGT GTATATACATGTACACATAGATATGCGTGTATATACATGTACACATAGAT ATGCGTGTATATACATGTACACATAGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0211 a0002c0003t0001g0211	1	228	0.0044	376	c.20- others(391): Show c.20-7755_20-7754insTCTATGTGTACATGTATATACACGCATATC TATGTGTACATGTATATACACGCATATCTATGTGTACATGTATATACACG CATATCTATGTGTACATGTATATACACGCATATCTATGTGTACATGTATA TACACGCATATCTATGTGTACATGTATATACACGCATATCTATGTGTACA TGTATATACACGCATATCTATGTGTACATGTATATACACGCATATCTATG TGTACATGTATATACACGCATATCTATGTGTACATGTATATACACGCATA TCTATGTGTACATGTATATACACGCATATCTATGTGTACATGTATATACA CGCATATCTATGTGTACATGTATATACACACATACACACACACACA	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507571	A A	ATATACAT others(369): Show ATATACATGTATATATGTATATATACGTGTATCTACATGTGTACACATGT ATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACAT GTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTAC ACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGT ACACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGT GTACACATGTATATACGTATACATGTGTACACATGTATATACGTATACAT GTGTACACATGTATATACGTATACATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	388	0.0026	376	c.-23 others(393): Show c.-23+2476_-23+2477insCATGTATACGTATATACATGTGTACACA TGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACA CATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTA CACATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTG TACACATGTATACGTATATACATGTGTACACATGTATACGTATATACATG TGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATACA TGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATA CATGTGTACACATGTAGATACACGTATATATACATATATACATGTATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(369): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	272	0.0037	376	c.28 others(387): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(369): Show TTATATATAAAAATTATATATATATTATATATATATAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18952.hp1 NA19063.hp1 others(1): Show HG03942.hp2 NA18952.hp1 NA19063.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	272	0.0147	376	c.28 others(387): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA TAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(369): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATACATAAAAATTATATATATATTATATATACATAAAAATTAT ATATATATAATATATATATAAAAATTATATATATATAATATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	272	0.0037	376	c.29 others(387): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATACATAAAAATTATATATATATTATAT ATACATAAAAATTATATATATATAATATATATATAAAAATTATATATATA TAATATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(369): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATACATAAAAATTATATATATATTATATATACATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATAATATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG04228.hp1 HG02056.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	272	0.0074	376	c.29 others(387): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATACATAAAAATTATATATATATTATAT ATACATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TAATATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar

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