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
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(292): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGGAGGGGAGGGGGAG GGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	302	0.0033	299	c.155 others(316): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCCTCCCTCCC CCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(292): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAG GGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	302	0.0033	299	c.155 others(316): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(292): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGGAGGGGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAG GGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	302	0.0033	299	c.155 others(316): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCTCCC CTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196811324	T T	TTTCCTTC others(292): Show TTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCC TCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCT TCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCT CCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTC CTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTTCCTTCCTTTC CTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0076 a0001c0002t0057g0076	1	178	0.0056	299	c.773 others(314): Show c.773+672_773+673insTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTT CCCTTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCT CCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCC CTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TTCCTTTCCTTCCTTTCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGGTT others(292): Show AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGTTCCG TGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGAC TGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0228 a0001c0001t0001g0049 a0001c0001t0001g0228	2	367	0.0055	299	c.4-1 others(312): Show c.4-1375_4-1374insCCCTCACACAATCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATCCCCT CCTCTCACGGAACCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGGTT others(292): Show AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGTTCCG TGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGAC TGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	367	0.0027	299	c.4-1 others(312): Show c.4-1375_4-1374insCCCTCACACAATCCCCTCCTCTCACAGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATCCCCT CCTCTCACGGAACCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGGTT others(292): Show AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGTTCCG TGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGAC TGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTTAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	367	0.0027	299	c.4-1 others(312): Show c.4-1375_4-1374insCCCTCACACAATCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTAACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATCCCCT CCTCTCACGGAACCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PCNT_chr21_46319156_46450769	46413025	C C	CGGGAGAG others(292): Show CGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC GAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGT GTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCA GCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGC TGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0172 a0003c0003t0001g0172	1	332	0.0030	299	c.615 others(316): Show c.6150+140_6150+141insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCAGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCC CACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGG CGTGAGGCCCCCCTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413145	C C	CGGGAGAG others(292): Show CGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGC GAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGT GTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCG GCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGC TGGACACGCAGCAGCAAGGTGTGGGGAGCGGGAAGGCGTGAGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	332	0.0030	299	c.615 others(316): Show c.6150+200_6150+201insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTC CCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAG GCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGG AGCGGGAAGGCGTGAGGCCCCCCTGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413205	C C	CGGGAGAG others(292): Show CGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGC GAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGT GTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCG GCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGC TGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	332	0.0030	299	c.615 others(316): Show c.6150+231_6150+232insGGCAGCAAGGTGTGGGGAGCGGGGAAGG CGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGA GGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCC CCTGGGAGAGGCTGGACACGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(292): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTC CCCTCCCTCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCC TCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTC CCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCT CCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	336	0.0030	299	c.-37 others(310): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGG CAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(292): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCC CCTCCCTCTCCCTTGCCCTCCCCCCTCCCCCTCCCTCATCCCCTCCCCCC TCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTC CCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCT CCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0002 a0008c0030t0002	a0008c0030t0002g0333 a0008c0030t0002g0333	1	336	0.0030	299	c.-37 others(310): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGGAGG GCAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(292): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCC CCTCCCTCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCT CCCCCTCCCCCTCCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTC CCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCT CCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0244	1	336	0.0030	299	c.-37 others(310): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGG GCAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(292): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCC CCTCCCTCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCCATCCCCTCCCCACTCCCCCTCCCCCTC CCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCT CCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	336	0.0030	299	c.-37 others(310): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGGA GGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGG GCAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PEX10_chr1_2398974_2417564	2401346	C C	CTCCTCCC others(292): Show CTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCTCCTTCCTCCCTCCT CCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCC TCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCC CTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCC TCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0036 a0001c0002t0004g0036	1	358	0.0028	299	c.44 others(310): Show c.4419_*4420insAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAAG GAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAGGGAGG AGGGGGGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGAGGAGGGAG GAGGAGGAAGCAGGGAGGAGGAGGGAGGAAGAAGGGAGGAGGGAGGAGGA GGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGAGGAGGAAGGAGGGAGG AAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGAAGG GAGGAGGAGGGAGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2627		chr1	TogoVar
PHRF1_chr11_571470_617222	585221	T T	TTGAGGTA others(292): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTTCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAG CTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0178 a0003c0008t0004g0178	1	279	0.0036	299	c.215 others(316): Show c.215-2003_215-2002insTCTTTTCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCATG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585234	C C	CCTTTCCA others(292): Show CCTTTCCAGCTTGAGGTAGTAGCTCTTTTCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCAT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02630.hp2 others(1): Show HG02145.hp2 HG02451.hp2 HG02630.hp2 NA18906.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0080 a0003c0008t0004g0081 a0003c0008t0004g0121 others(1): Show a0003c0008t0004g0080 a0003c0008t0004g0081 a0003c0008t0004g0121 a0003c0008t0004g0247	4	279	0.0143	299	c.215 others(316): Show c.215-2003_215-2002insTCTTTTCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCATG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTC TTTCCAGCTTGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PICALM_chr11_85952175_86074084	86033415	T T	TGCCAAGC others(292): Show TGCCAAGCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	358	0.0028	299	c.131 others(316): Show c.131-1805_131-1804insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGC GGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAGTGCTTGGC	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	1/19			chr11	TogoVar
PITPNC1_chr17_67372281_67702256	67550441	G G	GAAAAGAC others(292): Show GAAAAGACAGGCAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19043.hp2 HG01257.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0169 a0001c0001t0009g0180 a0001c0001t0005g0169 a0001c0001t0009g0180	2	218	0.0092	299	c.198 others(316): Show c.198-1801_198-1800insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAA AAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAGACAGGCAAGG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(292): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGAGGGGGAAGAGGGAAGGGAGGGGAGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGG GAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0072 a0001c0009t0072	a0001c0009t0072g0017 a0001c0009t0072g0017	1	218	0.0046	299	c.262 others(314): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCTTCCCCTCTTCCCCTCCCCTCCCTTCCCTCTTCCCCCTC CCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCC TCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCCCCCTC CCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKD1_chr16_2083708_2140898	2104211	A A	AAGGGGGA others(292): Show AAGGGGGAAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGGATAAGGG AGGGAAGGGGGAAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGGATA AGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGAAAGGGAGGGGAAGGGGG AAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGAAAGGGAGGGGAA GGGGGAAAGGGAGGGAAGGGGGATAAGGGAGGGGAAGGGGGATAAGGGAG GGGAAGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0002 a0013c0015t0002	a0013c0015t0002g0190 a0013c0015t0002g0190	1	216	0.0046	299	c.816 others(316): Show c.8161+286_8161+287insCATCCCCCTTCCCCTCCCTTATCCCCCT TCCCCTCCCTTTCCCCCTTCCCCTCCCTTATCCCCCTTCCCCTCCCTTAT CCCCCTTCCCTCCCTTTCCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCC TTATCCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCCTTTCCCCTTCCCC TCCCTTTCCCCCTTCCCCTCCTTATCCCCCTTCCCCTCCCTTTCCCCCTT CCCCTCCCTTTCCCCCTTCCCTCCCTTATCCCCCTTCCCCTCCCTTTCCC CCTTCCCCTCCCTTTCCCCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PLIN3_chr19_4833341_4872667	4839823	G G	GCCAGGCT others(292): Show GCCAGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTTTTTTTT TTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCAATCTTGACTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTC TCCTGCCTCAACCACCTGAGTAGCTGGGACTACAGGCGCCCACCACCACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02559.hp2 others(2): Show HG01255.hp2 HG02109.hp1 HG02559.hp2 HG02615.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 others(2): Show a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0171 a0002c0001t0001g0297	5	446	0.0112	299	c.961 others(314): Show c.961-288_961-287insTGTGGTGGTGGGCGCCTGTAGTCCCAGCTA CTCAGGTGGTTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTG CAGTGAGTCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAGGCCGGGTGTGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCTGG	PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding	7/7			chr19	TogoVar
POLR2M_chr15_57701714_57722557	57702490	A A	ACAGGAAA others(292): Show ACAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02965.hp1 others(1): Show HG02145.hp1 HG02717.hp1 HG02965.hp1 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0013 a0002c0003t0003g0038 a0002c0003t0003g0013 a0002c0003t0003g0038	4	404	0.0099	299	c.-43 others(310): Show c.-4353_-4352insCAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTG	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding		4223		chr15	TogoVar
PPP2R2D_chr10_131896008_131964834	131952858	G G	GGGTGTGT others(292): Show GGGTGTGTGTGTGGGGTTCACTGTCTTAGCAGTGACTTGCGGGGGGGGTC CCTGTCTTATCAGTGACTTGCGGGTGTGTGTGGGGGGTTCACTGTCTTAG CAGTGACTTGCGGGGGGGGTCCCTGTCTTATCAGTGACTTGCGAGTGTGC GGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGGGGGTTCACTGTCT TAGTGACTTGCGGGTGTGCAGGGGGTTTCACTGTCTTAGCAGTGACTTGC GGGTGTGTGTGGGAGGTTCACTGTCTTAGCAGTGACTTGCGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0157 a0001c0001t0009g0157	1	394	0.0025	299	c.108 others(318): Show c.1083-2824_1083-2823insTGTGTGTGTGGGGTTCACTGTCTTAG CAGTGACTTGCGGGGGGGGTCCCTGTCTTATCAGTGACTTGCGGGTGTGT GTGGGGGGTTCACTGTCTTAGCAGTGACTTGCGGGGGGGGTCCCTGTCTT ATCAGTGACTTGCGAGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGG TGTGCAGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGGGGGTTTC ACTGTCTTAGCAGTGACTTGCGGGTGTGTGTGGGAGGTTCACTGTCTTAG CAGTGACTTGCGGGTGTGTGTGG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRDM15_chr21_41793225_41884344	41806659	C C	CCACCATC others(292): Show CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCATCACC ACCACCACCATCACCACCACCATCACCACCACCACCACCATCACCACCAC CACCACCATCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACTACC ACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCATCAC CACCACCCATCACCATCACCACCAGCACCACCCATCACTACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00323.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0043 a0001c0001 a0001c0043	a0001c0001t0013 a0001c0043t0013 a0001c0001t0013 a0001c0043t0013	a0001c0001t0013g0150 a0001c0043t0013g0254 a0001c0001t0013g0150 a0001c0043t0013g0254	2	406	0.0049	299	c.265 others(318): Show c.2653-2046_2653-2045insATGGTGGTGGTAGTGATGGGTGGTGC TGGTGGTGATGGTGATGGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGATGGTGGTAGTGATGGTGGTGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGATGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRKAG2_chr7_151551127_151882115	151855369	A A	ACACACAC others(292): Show ACACACACCATCCACACACCACCCTCCACACACACCATGCTCCACACACA CCGCCCTCCACACACACCATCCTCCACACACACCATGCTCCACACACCAC CCTCCACACACCACCCTCTACCACCCTCCACACACCACCATCCACACACA CCACGCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACACC ATCCTCCACACACACCACCCTCCACACACACCGCCCTCCACACACACCGC CCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACCACCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	252	0.0040	299	c.114 others(318): Show c.114+21137_114+21138insGAGGGTGGTGTGTGGAGGATGGTGTG TGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTG TGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTG GAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGG GTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTG GAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGA GGGTGGTGTGTGGATGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRUNE2_chr9_76606376_76911114	76716027	A A	AAAGAAGA others(292): Show AAAGAAGACACACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18981.hp1 NA18956.hp1 NA18981.hp1	a0005 a0018 a0005 a0018	a0005c0009 a0018c0032 a0005c0009 a0018c0032	a0005c0009t0001 a0018c0032t0001 a0005c0009t0001 a0018c0032t0001	a0005c0009t0001g0068 a0018c0032t0001g0037 a0005c0009t0001g0068 a0018c0032t0001g0037	2	240	0.0083	299	c.757 others(316): Show c.757-2307_757-2306insGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAATGTGTGTCTTCTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
RAMACL_chr6_166578009_166591678	166581948	G G	GGGTGAGA others(292): Show GGGTGAGATGGGGTGGGACGCCCACTCGGCAGGTGGGCTGGGCAGGAGAG CACGGGGAGAGGGCGGGATGGGGTGGAATGCCCACTGGGCAGGTGGGCTG GGCAGGAGGGCACAGGAAGAGGGTGAGATGGGGTGGGACGCCCACTCGGC AGGTGGGCTGGGCAGGAGGGCACGGGGAGAGGGCGGGATGGGGTGGAATG CCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGGTGAGATA GGGTGGGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0000 a0001c0001t0035g0000	1	442	0.0023	299	c.41 others(310): Show c.4172_*4173insTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCC AGTGGGCGTCCCACCCTATCTCACCCTCTCCCTGTGCCCTCCTGCCCAGC CCACCTGCCCAGTGGGCATTCCACCCCATCCCGCCCTCTCCCCGTGCCCT CCTGCCCAGCCCACCTGCCGAGTGGGCGTCCCACCCCATCTCACCCTCTT CCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCATTCCACCCCATC CCGCCCTCTCCCCGTGCTCTCCTGCCCAGCCCACCTGCCGAGTGGGCGTC CCACCCCATCTCACC	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding		1060		chr6	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(292): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCATCTCCTGTCCCCC GTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCC CCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCG TCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	452	0.0022	299	c.757 others(314): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATC CCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCC ATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCG TCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RER1_chr1_2386841_2410436	2401346	C C	CTCCTCCC others(292): Show CTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCTCCTTCCTCCCTCCT CCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCC TCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCC CTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCC TCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	354	0.0028	299	c.365 others(314): Show c.365+415_365+416insCCCTCCTCCTCCCTTCTTCCTCCCTCCTCC CTCCCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCC TCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTT CTTCCTCCCTCCTCCTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTC CCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCTTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130392142	C C	CCGTCAGT others(292): Show CCGTCAGTTACCTGGTGAATATTGAACGTTGTGATGACCCGGTCACCGTC ATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCA GTCACCGTCATCACGTGTGTGCGTCAGTTACCTGGTGAATATTGAACGTT GTGATGACCCGGTCACCGTCATCACATGTCCGTCAGTTACCTGGTGAATA TTGAACGTTGTGATGACCCGGTCACCGTCATCATGTGTCCGTCAGTTACC TGGTGAATATTGAATGTTGTGATGACCCAGTCACCGTCATCACGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0173 a0001c0003t0006g0173	1	180	0.0056	299	c.52 others(310): Show c.5218_*5219insCACACACGTGATGACGGTGACTGGGTCATCACAA CATTCAATATTCACCAGGTAACTGACGGACACATGATGACGGTGACCGGG TCATCACAACGTTCAATATTCACCAGGTAACTGACGGACATGTGATGACG GTGACCGGGTCATCACAACGTTCAATATTCACCAGGTAACTGACGCACAC ACGTGATGACGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAA CTGACGGACACGTGATGACGGTGACCGGGTCATCACAACGTTCAATATTC ACCAGGTAACTGACG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3990		chr12	TogoVar
RIN3_chr14_92508781_92693994	92547121	A A	ATTATTAT others(292): Show ATTATTATTATAAAATAAATTATCTTTATTTTATTATTATTATAAAATAA ATTATCTTTATTTTATTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATA AATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	334	0.0030	299	c.45- others(314): Show c.45-8617_45-8616insATAAATTATCTTTATTTTATTATTATTATA AAATAAATTATCTTTATTTTATTATTATTATAAAATAAATTATCTTTATT TTATTATTATAATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(292): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	280	0.0036	299	c.3+2 others(314): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RPS6KA2_chr6_166404364_166632251	166581948	G G	GGGTGAGA others(292): Show GGGTGAGATGGGGTGGGACGCCCACTCGGCAGGTGGGCTGGGCAGGAGAG CACGGGGAGAGGGCGGGATGGGGTGGAATGCCCACTGGGCAGGTGGGCTG GGCAGGAGGGCACAGGAAGAGGGTGAGATGGGGTGGGACGCCCACTCGGC AGGTGGGCTGGGCAGGAGGGCACGGGGAGAGGGCGGGATGGGGTGGAATG CCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGGTGAGATA GGGTGGGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	244	0.0041	299	c.100 others(318): Show c.100-43165_100-43164insTCTCCCTGTGCCCTCCTGCCCAGCCC ACCTGCCCAGTGGGCGTCCCACCCTATCTCACCCTCTCCCTGTGCCCTCC TGCCCAGCCCACCTGCCCAGTGGGCATTCCACCCCATCCCGCCCTCTCCC CGTGCCCTCCTGCCCAGCCCACCTGCCGAGTGGGCGTCCCACCCCATCTC ACCCTCTTCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCATTCC ACCCCATCCCGCCCTCTCCCCGTGCTCTCCTGCCCAGCCCACCTGCCGAG TGGGCGTCCCACCCCATCTCACC	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0020 a0002c0063t0020	a0002c0063t0020g0001 a0002c0063t0020g0001	1	196	0.0051	299	c.394 others(316): Show c.3940-602_3940-601insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTG CGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGC CCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(292): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0086 a0001c0002t0015g0086	1	196	0.0051	299	c.394 others(316): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	196	0.0051	299	c.394 others(316): Show c.3940-449_3940-448insCCTCTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TCTGCGGCCCTCACCCCGTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG02273.hp2 others(2): Show HG00735.hp1 HG01109.hp2 HG02273.hp2 NA19007.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0030 a0001c0042 others(2): Show a0001c0002 a0001c0030 a0001c0042 a0001c0061 a0001c0091	a0001c0002t0040 a0001c0030t0003 a0001c0042t0055 others(2): Show a0001c0002t0040 a0001c0030t0003 a0001c0042t0055 a0001c0061t0009 a0001c0091t0016	a0001c0002t0040g0105 a0001c0030t0003g0115 a0001c0042t0055g0179 others(2): Show a0001c0002t0040g0105 a0001c0030t0003g0115 a0001c0042t0055g0179 a0001c0061t0009g0040 a0001c0091t0016g0166	5	196	0.0255	299	c.394 others(316): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0085 a0001c0001t0015g0085	1	196	0.0051	299	c.394 others(316): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(292): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG03654.hp2 HG00639.hp1 HG01978.hp2 HG03654.hp2	a0001 a0001	a0001c0023 a0001c0024 a0001c0027 a0001c0023 a0001c0024 a0001c0027	a0001c0023t0002 a0001c0024t0002 a0001c0027t0096 a0001c0023t0002 a0001c0024t0002 a0001c0027t0096	a0001c0023t0002g0049 a0001c0024t0002g0048 a0001c0027t0096g0060 a0001c0023t0002g0049 a0001c0024t0002g0048 a0001c0027t0096g0060	3	196	0.0153	299	c.394 others(316): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN1_chr14_59590983_59875776	59750573	T T	TATCTATA others(292): Show TATCTATAATATATAATATATCTATAATATATAATATATCTATAATATAT ATATTATAGATATAATATATAATATATTATATATATAATATATAATATAT TATATATAATATATTATATATTATATCTATAATATATAATATATTATATC TATAATATATTATATGTAATATATATGTTATATCTATAATATATATTATA TCTATAATATATAATATATTATATCTATAAATATAATATATTATATCTAT AATATATAATATATTATATCTATAATATATATTATATCTATAATATATAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	172	0.0058	299	c.242 others(316): Show c.242-4093_242-4092insTTATATATTATAGATATAATATATATTA TAGATATAATATATTATATATTATAGATATAATATATTATATTTATAGAT ATAATATATTATATATTATAGATATAATATATATTATAGATATAACATAT ATATTACATATAATATATTATAGATATAATATATTATATATTATAGATAT AATATATAATATATTATATATAATATATTATATATTATATATATAATATA TTATATATTATATCTATAATATATATATTATAGATATATTATATATTATA GATATATTATATATTATAGAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(292): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02602.hp1 HG03239.hp1 others(2): Show HG02129.hp1 HG02602.hp1 HG03239.hp1 HG03704.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0167 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	5	210	0.0238	299	c.899 others(314): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SARDH_chr9_133658560_133743352	133668580	C C	CACCCTCC others(292): Show CACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCATCCTCCCTC TCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCT CACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0004 a0003c0035t0004	a0003c0035t0004g0040 a0003c0035t0004g0040	1	262	0.0038	299	c.249 others(318): Show c.2496-1711_2496-1710insAAGGGAGAGGGAAGGTGAGGGAGAGG GAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGG AAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAA GGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGG TGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGGGAGAG GGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGGG GAGGGTAAGGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1284170	G G	GGGGGGGT others(292): Show GGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGGTGGGGGGGTTGAGTGAGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGTTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0267 a0001c0001t0011g0267	1	290	0.0035	299	c.464 others(312): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGGTGGGGGGGTTGAGTGAGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGTTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTT GAGTGAGGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(292): Show GGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGGTTG GGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGTTGGGTGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0008 a0006c0014t0008	a0006c0014t0008g0277 a0006c0014t0008g0277	1	290	0.0035	299	c.464 others(312): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTG GGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGT TGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYGR2_chr2_227593893_227604255	227601500	T T	TAGATTTG others(292): Show TAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0000 a0008c0011t0001g0000	1	469	0.0021	299	c.22 others(310): Show c.2245_*2246insAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGG	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding		2246		chr2	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(292): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGTTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	189	0.0053	299	c.198 others(318): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGTTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(292): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	189	0.0053	299	c.198 others(318): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(292): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	384	0.0026	299	c.-83 others(308): Show c.-839_-838insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACT GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTC TGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTT GTTTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SFT2D1_chr6_166314728_166347545	166332580	T T	TGTGCTGC others(292): Show TGTGCTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	388	0.0026	299	c.64- others(314): Show c.64-2334_64-2333insCCCAGCACTTTGGGAGGCCGAGGCGGGTGG ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCG ACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAGCAGCAC	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding	1/7			chr6	TogoVar

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