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
PIWIL1_chr12_130332887_130377637	130338277	G G	GGATGCAG others(288): Show GGATGCAGGAGCCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGG TGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGG CGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGTCGAGGTC CCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGC GGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	247	0.0040	295	c.-13 others(310): Show c.-13+143_-13+144insAGATGCGGTGGCGAGGTCGCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGG AGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGAT GCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGT CGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCC CAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTG GGAGATGCAGGAGCC	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338277	G G	GGATGCAG others(288): Show GGATGCAGGAGCCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGG TGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGG CGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCC CAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCG GGAGATGCAGGAGCCGGGTGCGGGGGCGAGGGTCCCAGGTGTGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0240 a0001c0001t0007g0240	1	247	0.0040	295	c.-13 others(310): Show c.-13+143_-13+144insAGATGCGGTGGCGAGGTCGCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGG AGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGAT GCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTC GAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCC AGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGGTCCCAGGTGTG GGAGATGCAGGAGCC	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338277	G G	GGATGCAG others(288): Show GGATGCAGGAGCCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGG TGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGG CGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCC CAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGGCGAGGTCCCAGGTGC GGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0294 a0001c0001t0004g0294	1	247	0.0040	295	c.-13 others(310): Show c.-13+143_-13+144insAGATGCGGTGGCGAGGTCGCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGG AGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGAT GCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTC GAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGGCGAGGTCC CAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTG GGAGATGCAGGAGCC	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338547	C C	CGGGGGCG others(288): Show CGGGGGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCG AGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCA GGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGG AGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGG TGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0317 a0001c0001t0004g0317	1	419	0.0024	295	c.-13 others(310): Show c.-13+420_-13+421insCGGGGGATGCAGGAGCCGGGTGCGGGGGCG AGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCA GGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGG AGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGG TGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGG GCGAGGTCCCAGGTG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKP3_chr11_389209_409908	401088	G G	GCCCCGCT others(288): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCCGCTCACACCCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCCGCCCCGCTCACCCCCGGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	205	0.0049	295	c.173 others(312): Show c.1737+383_1737+384insCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCCCGCTCACACCCCGCCCCGCTCACCCCCGGCCCCGCTCACACC CCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401315	C C	CCCCGGAC others(288): Show CCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGACCCCGCTCACAC CCGCCCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGG ACCCCGCTCACCCCCGCCCCGCTCACACCCGACCCCCGCTCACACCCGCC CCGCTCACCCCCGCCCCGCTCACCCCCCCCCGCTCACCCCGGACCCCGCT CACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0027 a0001c0004t0001g0027	1	213	0.0047	295	c.173 others(312): Show c.1737+613_1737+614insGGACCCCGCTCACCCCCGCCCCGCTCAC ACCCGACCCCGCTCACACCCGCCCCCCGCTCACCCCCGCCCCGCTCACCC CCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGA CCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCCCCCG CTCACCCCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCT CACACCCGCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGCCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401321	G G	GCCCCGCT others(288): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	94	0.0106	295	c.173 others(312): Show c.1737+619_1737+620insCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGC TCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHA4_chr19_48832097_48873617	48834567	C C	CCTGGACT others(288): Show CCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTA GGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 NA18969.hp2 NA18991.hp2 others(2): Show HG03654.hp1 NA18969.hp2 NA18991.hp2 NA19081.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0013 a0002c0002t0002 a0002c0002t0013	a0002c0002t0002g0005 a0002c0002t0002g0027 a0002c0002t0002g0039 others(2): Show a0002c0002t0002g0005 a0002c0002t0002g0027 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0013g0032	5	281	0.0178	295	c.24 others(306): Show c.2427_*2721dupACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCC CTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAG GCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTT CCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACC CAGGAGTCCAG	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2529		chr19	TogoVar
PLEKHN1_chr1_961482_980865	964630	G G	GGGCGGGT others(288): Show GGGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGTGGGGCGCGGGTCCGC AGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGG GGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTCC GCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATG TGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAG GGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0016 a0001c0009t0009g0016	1	208	0.0048	295	c.-19 others(306): Show c.-1902_-1901insGGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGT GGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGT GGGGATGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGGGA GGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGG ATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGG AAGGGGGGGGC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1851		chr1	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(288): Show TTTATATAATTATATATATATATATATTATATTATATATATATTATATAA TTTATAATTATATATTATATATATTATATAATATATTATATATATTATAT TATATATATAATATATATATTATATATATTAATATATTATATATATATTA TATATAATTATATATAATATATATAATATATATTTATATATATTTTATAT ATATAATATATTAACTATATATTATATTATATATAATATATTATATATAT TATATATAATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	31	0.0323	295	c.-50 others(306): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATTATATATAATATATATAATATATTATATATAATATAATATATAGTT AATATATTATATATATAAAATATATATAAATATATATTATATATATTATA TATAATTATATATAATATATATATAATATATTAATATATATAATATATAT ATTATATATATAATATAATATATATAATATATTATATAATATATATAATA TATAATTATAAATTATATAATATATATATAATATAATATATATATATATA TAATTATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(288): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATAATATATATTATATATAAAAATATAT TTATATATATTATATTATATATAATATATTATATATATTATATTATATAT AATATATTATATATATTATATAATATATAATATATATAATATATTATATT ATATATAATATATTATATATATTATATTATATATAATATATTATATATAT TATATATAATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	31	0.0323	295	c.-50 others(306): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATTATATATAATATATATAATATATTATATATAATATAATATATATAA TATATTATATATAATATAATATATTATATATATTATATATTATATAATAT ATATAATATATTATATATAATATAATATATATAATATATTATATATAATA TAATATATATAAATATATTTTTATATATAATATATATTATATTATATATA ATATATATTATATTATATATAATATATTTTTATATAAATATATATTATAT ATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(288): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATAATATATATTATATATAAAAATATAT TTATATATATTATATTATATATAATATATTATATATATTATATTATATAT AATATATTATATATATTATATTATATATAATATATATAATATATTATATT ATATATAATATATTATATATATTATATTATATATAATATATTATATATAT TATATATAATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA18944.hp1 NA18953.hp1 others(5): Show HG03834.hp1 NA18944.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18968.hp2 NA18986.hp1 NA18992.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0003c0005t0001g0030 a0001c0001t0001g0001 a0001c0001t0001g0013 a0003c0005t0001g0030	8	38	0.2105	295	c.-50 others(306): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATTATATATAATATATATAATATATTATATATAATATAATATATATAA TATATTATATATAATATAATATATTATATATATTATATATAATATAATAT ATATAATATATTATATATAATATAATATATATAATATATTATATATAATA TAATATATATAAATATATTTTTATATATAATATATATTATATTATATATA ATATATATTATATTATATATAATATATTTTTATATAAATATATATTATAT ATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
POLR3A_chr10_77970149_78034515	77971906	A A	AAGATGAC others(288): Show AAGATGACTGGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0024 a0001c0019t0024	a0001c0019t0024g0319 a0001c0019t0024g0319	1	372	0.0027	295	c.55 others(306): Show c.5571_*5572insGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA TCCAGTCATCT	POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding		3242		chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2122363	G G	GTCACGGT others(288): Show GTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGT CATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGCGTCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp2 HG00642.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0110 a0001c0003t0003g0212 a0001c0003t0001g0110 a0001c0003t0003g0212	2	199	0.0101	295	c.335 others(314): Show c.335-12898_335-12897insCACGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTA GGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF6_chr20_63976132_64038100	64011805	T T	TGGCTTCT others(288): Show TGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGA GGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTT GCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03669.hp1 HG02970.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0187 a0001c0001t0001g0122 a0001c0001t0001g0187	2	47	0.0426	295	c.152 others(313): Show c.1524+780_1524+1074dupCTTTCTTTGCTAGTAGAAATGATACAC CTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAA ATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTG CTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT CTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTC TCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGA CAGGAAGTCTCACGGCTT	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64012574	G G	GCTTCTTT others(288): Show GCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGA AGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGG AGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACC TACGAGAGGAGGACAGGAAGTCTCACGGCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0173 a0001c0001t0007g0173	1	274	0.0036	295	c.152 others(314): Show c.1524+1074_1524+1075insCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTT GCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCT TTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTC ACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACA GGAAGTCTCACGGCTTCTT	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64012574	G G	GCTTCTTT others(288): Show GCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGA AGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGG AGGACAGGAAGTCTCACGGCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03490.hp2 HG03492.hp1 others(2): Show HG01943.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0055 a0001c0001t0002g0065 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0279	5	278	0.0180	295	c.152 others(314): Show c.1524+1074_1524+1075insCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTTCTTTGCT AGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCT TTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTC ACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACA GGAAGTCTCACGGCTTCTT	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRA_chr20_2868481_3043669	2910408	G G	GTATATTA others(288): Show GTATATTATATATTTTATATATAATATATTTTGTATATTATATATTTTAT ATATAATATATTTTGTATATTATATATTTTATATATAATATATTTTGTAT ATTATATATTTTATATATAATATATTTTGTATATTATATATTTTATATAT AATATATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTA TATATTTTATATATAATATATTTTGTATATTATATATTTTATATATAATA TATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	62	0.0161	295	c.-12 others(316): Show c.-128-12788_-128-12787insTTTTATATATAATATATTTTGTAT ATTATATATTTTATATATAATATATTTTGTATATTATATATTTTATATAT AATATATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTA TATATTTTATATATAATATATTTTGTATATTATATATTTTATATATAATA TATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTATATA TTTTATATATAATATATTTTGTATATTATATATTTTATATATAATATATT TTGTATATTATATATTATATA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PXDN_chr2_1626887_1749515	1695352	G G	GTGCCCTG others(288): Show GTGCCCTGGGTCTGAGCACCTGAGAGGTGGCCTAGAGTGATGGACAGAGA GGTGCTGTCCCATCCACAGGCCCCTGTGCCCTGCTGGACACAGAGGTGCT GTCCCATCCACAGGCCCCTGTGCCCTGCTGGACAGAGAGGTGCTGTCCCA TTCACAGGCCCCTGTGCCCTGCTGGACAGAGAGGTGCTGTCCCATTCACA GGCCCCTGTGCCCTGCTGGACAGAGAGGTGCTGTCCCATCCACAGGCCCC TGTGCCCTGCTGGACAGAGAGGTGCTGTCCCATCCACAAGCCCCTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG02135.hp2 HG00408.hp2 HG00558.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0001 a0001c0001t0001 a0001c0026t0001	a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0026t0001g0261 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0026t0001g0261	3	320	0.0094	295	c.201 others(312): Show c.201-2219_201-2218insTAGGGGCTTGTGGATGGGACAGCACCTC TCTGTCCAGCAGGGCACAGGGGCCTGTGGATGGGACAGCACCTCTCTGTC CAGCAGGGCACAGGGGCCTGTGAATGGGACAGCACCTCTCTGTCCAGCAG GGCACAGGGGCCTGTGAATGGGACAGCACCTCTCTGTCCAGCAGGGCACA GGGGCCTGTGGATGGGACAGCACCTCTGTGTCCAGCAGGGCACAGGGGCC TGTGGATGGGACAGCACCTCTCTGTCCATCACTCTAGGCCACCTCTCAGG TGCTCAGACCCAGGGCA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAMACL_chr6_166578009_166591678	166581999	A A	ACAGGGAG others(288): Show ACAGGGAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGG CAGGAGGGCACAGGGAGAGCTGAGATGGGGTGGGACGTCCACTGGGCAGG TGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTG GGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAAGTGA GATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG01891.hp1 others(19): Show HG01167.hp1 HG01884.hp1 HG01891.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0004 a0002c0000t0031 a0002c0000t0004 a0002c0000t0031	a0002c0000t0004g0000 a0002c0000t0031g0000 a0002c0000t0004g0000 a0002c0000t0031g0000	22	75	0.2933	295	c.41 others(306): Show c.4121_*4122insGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACG TCCCACCCCATCTCACTTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCC CAGTGGGCGTCCCACCCCATCTCACCTCTCCCTGGGCCCTCCTGCCCAGC CCACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCTGGGCCCTC CTGCCCAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTCAGCTCTCCC TGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGTGCGTCCCACCCCATCTC ACCTCTCCCTG	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding		1009		chr6	TogoVar
RCL1_chr9_4787944_4866066	4814225	T T	TGAGGTGT others(288): Show TGAGGTGTGTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	323	0.0031	295	c.137 others(312): Show c.137-9307_137-9306insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GGAGGTGTGTTCTTTCT	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(288): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	81	0.0123	295	c.132 others(312): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD4_chr2_107821892_107897544	107828309	A A	AGGCGGCG others(288): Show AGGCGGCGGCCTCGACCCGGCCCCGCGGCGGCCTCGATGGCTCAGGCGTC ATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGC CTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCG ACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGG CCCGGCGGCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTG CTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0046 a0002c0046	a0002c0046t0002 a0002c0046t0002	a0002c0046t0002g0218 a0002c0046t0002g0218	1	355	0.0028	295	c.72+ others(310): Show c.72+1246_72+1247insCGCGGCGGCCTCGATGGCTCAGGCGTCATG GCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTC GACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACG GGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCC GGCGGCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTC CCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCG GCCTCGACCCGGCCC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RHOF_chr12_121772754_121798688	121784284	T T	TGCCTGTA others(288): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGT CAGAGATCGAGACCATCCTGGCCAACACGGTTAAACCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTA CTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTG CAGTGAGCCAAGATCACGCCACTGAACTCCAACCTGGTGACAGAGGGAGA CTCAGTCTCAAAAAAAAAAAAAAAAAAGCTGAGCGCGGTGGCTCAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19055.hp1 NA19085.hp1 NA18982.hp2 NA19055.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0043 a0001c0001t0014g0138 a0001c0001t0014g0043 a0001c0001t0014g0138	3	380	0.0079	295	c.227 others(312): Show c.227-3093_227-3092insGTGAGCCACCGCGCTCAGCTTTTTTTTT TTTTTTTTTGAGACTGAGTCTCCCTCTGTCACCAGGTTGGAGTTCAGTGG CGTGATCTTGGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGCGCGCCACCACACC CAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTAACCGTGTTGGCCA GGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAA GTGCTGGGATTACAGGC	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RHOF_chr12_121772754_121798688	121784287	T T	TTGTAATC others(288): Show TTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAG AGATCGAGACCATCCTGGCCAACACGGTTAAACCCTGTCTCTATTAAAAA TACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTACTT GGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGCAG TGAGCCAAGATCACGCCACTGAACTCCAACCTGGTGACAGAGGGAGACTC AGTCTCAAAAAAAAAAAAAAAAAAGCTAAGCGCGGTGGCTCACGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp1 NA19030.hp2 HG01109.hp2 HG02723.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0208 a0001c0001t0003g0049 a0001c0001t0003g0208	3	318	0.0094	295	c.227 others(312): Show c.227-3096_227-3095insGGCGTGAGCCACCGCGCTTAGCTTTTTT TTTTTTTTTTTTGAGACTGAGTCTCCCTCTGTCACCAGGTTGGAGTTCAG TGGCGTGATCTTGGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATT CTCCTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGCGCGCCACCAC ACCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTAACCGTGTTGG CCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTTGGCCTCCC AAAGTGCTGGGATTACA	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RHOF_chr12_121772754_121798688	121784287	T T	TTGTAATC others(288): Show TTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAG AGATCGAGACCATCCTGGCCAACACGGTTAAACCCTGTCTCTATTAAAAA TACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTACTT GGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGCAG TGAGCCAAGATCACGCCACTGAACTCCAACCTGGTGACAGAGGGAGACTC AGTCTCAAAAAAAAAAAAAAAAAAGCTGAGCGCGGTGGCTCACGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp2 others(46): Show HG00140.hp1 HG00639.hp2 HG00735.hp2 HG01074.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01943.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19004.hp2 NA19043.hp2 NA19060.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0008 a0001c0001t0025 others(10): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037 a0001c0001t0051 a0001c0001t0052 a0001c0005t0055 a0002c0002t0010 a0002c0002t0041 a0002c0002t0053 a0003c0003t0018 a0003c0003t0019	a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0025 others(31): Show a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0048 a0001c0001t0003g0183 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0008g0083 a0001c0001t0008g0179 a0001c0001t0025g0192 a0001c0001t0025g0194 a0001c0001t0026g0187 a0001c0001t0037g0168 a0001c0001t0051g0190 a0001c0001t0052g0198 a0001c0005t0055g0223 a0002c0002t0010g0015 a0002c0002t0010g0042 a0002c0002t0010g0135 a0002c0002t0010g0167 a0002c0002t0041g0137 a0002c0002t0053g0186 a0003c0003t0018g0031 a0003c0003t0019g0224 a0003c0003t0019g0225 a0003c0003t0019g0227	49	364	0.1346	295	c.227 others(312): Show c.227-3096_227-3095insGGCGTGAGCCACCGCGCTCAGCTTTTTT TTTTTTTTTTTTGAGACTGAGTCTCCCTCTGTCACCAGGTTGGAGTTCAG TGGCGTGATCTTGGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATT CTCCTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGCGCGCCACCAC ACCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTAACCGTGTTGG CCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTTGGCCTCCC AAAGTGCTGGGATTACA	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RPS6KA2_chr6_166404364_166632251	166581999	A A	ACAGGGAG others(288): Show ACAGGGAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGG CAGGAGGGCACAGGGAGAGCTGAGATGGGGTGGGACGTCCACTGGGCAGG TGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTG GGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAAGTGA GATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG01891.hp1 others(18): Show HG01167.hp2 HG01884.hp2 HG01891.hp1 HG02258.hp1 HG02451.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 others(11): Show a0001c0004 a0001c0006 a0001c0007 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0001c0022 a0001c0029 a0001c0042 a0001c0045 a0001c0051 a0001c0057 a0001c0060	a0001c0004t0014 a0001c0006t0004 a0001c0006t0005 others(15): Show a0001c0004t0014 a0001c0006t0004 a0001c0006t0005 a0001c0006t0027 a0001c0007t0006 a0001c0015t0017 a0001c0016t0045 a0001c0017t0005 a0001c0017t0041 a0001c0019t0021 a0001c0019t0031 a0001c0022t0004 a0001c0029t0018 a0001c0042t0014 a0001c0045t0043 a0001c0051t0015 a0001c0057t0016 a0001c0060t0016	a0001c0004t0014g0064 a0001c0004t0014g0244 a0001c0006t0004g0159 others(18): Show a0001c0004t0014g0064 a0001c0004t0014g0244 a0001c0006t0004g0159 a0001c0006t0004g0212 a0001c0006t0005g0208 a0001c0006t0005g0219 a0001c0006t0027g0075 a0001c0007t0006g0237 a0001c0015t0017g0020 a0001c0016t0045g0213 a0001c0017t0005g0117 a0001c0017t0041g0077 a0001c0019t0021g0211 a0001c0019t0031g0197 a0001c0022t0004g0210 a0001c0029t0018g0004 a0001c0042t0014g0043 a0001c0045t0043g0076 a0001c0051t0015g0209 a0001c0057t0016g0173 a0001c0060t0016g0240	21	54	0.3889	295	c.100 others(314): Show c.100-43216_100-43215insGGCCCTCCTGCCCAGCCCACCTGCCC AGTGGACGTCCCACCCCATCTCACTTCTCCCTGTGCCCTCCTGCCCAGCC CACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCTGGGCCCTCC TGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCT GGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTCA GCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGTGCGTCCCAC CCCATCTCACCTCTCCCTG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(288): Show TATATCTATAATATATATATTATATCTATAATATATATCTATAATATATA TATTATATCTATAATATATAATATATCTATAATATATATATTATAGATAT AATATATAATATATTATATATAATATATTATATATTATATCTATAATATA TAATATATTATATCTATAATATATTATATGTAATATATATATGTTATATC TATAATATATATTATATCTATAATATATAATATATTATATCTATAATTAT AATATATTATATCTATAAATATAATATATTATATCTATAATATATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19012.hp2 NA19079.hp1 others(1): Show NA18999.hp2 NA19012.hp2 NA19079.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121	4	94	0.0426	295	c.242 others(312): Show c.242-4111_242-4110insTATATATTATAGATATAATATATTATAT TTATAGATATAATATATTATAATTATAGATATAATATATTATATATTATA GATATAATATATATTATAGATATAACATATATATATTACATATAATATAT TATAGATATAATATATTATATATTATAGATATAATATATAATATATTATA TATAATATATTATATATTATATCTATAATATATATATTATAGATATATTA TATATTATAGATATAATATATATATTATAGATATATATTATAGATATAAT ATATATATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(288): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGGG AGGAGGGAGGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAG GAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAA GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0280 a0001c0002t0004g0280	1	2	0.5000	295	c.807 others(312): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTC CCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(288): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGGG GAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAG GAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAA GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0292 a0001c0002t0004g0292	1	2	0.5000	295	c.807 others(312): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTC CCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(288): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGGAGGGG GAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAG GAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAA GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0296 a0001c0002t0004g0296	1	2	0.5000	295	c.807 others(312): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCCTCCCTCCTCCCCCTCCCTCCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTC CCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(288): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGGAGGAGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAG GAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAA GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0286 a0001c0002t0004g0286	1	2	0.5000	295	c.807 others(312): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCCTCCCTCCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTC CCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(288): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAG GAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAA GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0293 a0001c0002t0004g0293	1	2	0.5000	295	c.807 others(312): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CCCCTCCCTCCTCCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTC CCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RXRA_chr9_134321455_134445585	134444314	T T	TGTCCCCC others(288): Show TGTCCCCCCGCCCTCCCCTCCCGTCCTCGTCAGGCTGCCCTTCGCCCTCC GCTGGCCCGCGCCATCAGCCCTCCTTCGCCTGGTCCCTCCTCCCTCCTTC CCGCTCCCCTTCCCGGCCCCGGCCCTCCTCCTCTCCCTCCTTCCCCCTCC CTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCC CTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCC TTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0207 a0001c0001t0016g0207	1	230	0.0043	295	c.77 others(306): Show c.7700_*7701insGTCCCCCCGCCCTCCCCTCCCGTCCTCGTCAGGC TGCCCTTCGCCCTCCGCTGGCCCGCGCCATCAGCCCTCCTTCGCCTGGTC CCTCCTCCCTCCTTCCCGCTCCCCTTCCCGGCCCCGGCCCTCCTCCTCTC CCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTC CTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTC CTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTC CCCCTCCCTCC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3730		chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGG others(288): Show TTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGAGGGG GGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0288 a0005c0016t0001g0288	1	136	0.0074	295	c.464 others(308): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGG GTTGAGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTG GGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(288): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCAGGCGGGGG GGTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGTGGGGGG ATGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0196 a0001c0002t0004g0196	1	130	0.0077	295	c.335 others(312): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGT GGCTGGCCAGGCGGGGGGGTGACCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCCGGGTGGGGGGATGACCCCCCAACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(288): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCAGGCGGGGG GGTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGTGGGGGG CTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02886.hp1 others(4): Show HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp2 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 others(4): Show a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0194 a0001c0002t0004g0195	7	136	0.0515	295	c.335 others(312): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGT GGCTGGCCAGGCGGGGGGGTGACCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCCGGGTGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC24B_chr4_109428815_109545896	109489465	T T	TGTGCAGT others(288): Show TGTGCAGTCCCCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 NA18522.hp1 others(2): Show HG02615.hp2 HG02723.hp1 NA18522.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0113	5	216	0.0231	295	c.116 others(314): Show c.1166-1845_1166-1844insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCAGTCCCCACTTCT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN2_chr2_241310925_241359027	241355590	A A	AGACCTAG others(288): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGA CTCCCCGCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGA CCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCC AGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTC CCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0187 a0001c0001t0007g0187	1	127	0.0079	295	c.36 others(306): Show c.3653_*3654insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCC CAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCC CGCCCAGCGAGCCGACTCCCCGCCAGGACCTAGCCCCGCCCAGCGAACCG ACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG GACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGC CCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGAC TCCCCGCCCAG	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1564		chr2	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(288): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01928.hp1 HG01099.hp2 HG01928.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	2	299	0.0067	295	c.-83 others(304): Show c.-839_-838insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCTGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTGTTT GAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SHC3_chr9_89000771_89183818	89040229	C C	CATCATCA others(288): Show CATCATCATCACCATCATCATCACTGTCACCACCACCACTATCATCATCA GCAGCAGCAGCAGCATCATCACCATCACCACCATTGTCACCATCACCATC AGCACCATCATCACCATCACCATCAGCACCATCATCACTATCACCATCAG CACCATCATCACTATCACTACCATCACCATCTTTCTACCACCATCATCAT CATCATCACCATCATCACCATCACCACCATCATCACCTCACCATTATCAC CATCACCATCAGCACCATCATCACTATTACTACCATCACCATCATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0171 a0001c0001t0036g0171	1	118	0.0085	295	c.136 others(314): Show c.1360+1796_1360+1797insAATGATGGTGATGGTAGTAATAGTGA TGATGGTGCTGATGGTGATGGTGATAATGGTGAGGTGATGATGGTGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGGTAGAAAGATGGTGATGG TAGTGATAGTGATGATGGTGCTGATGGTGATAGTGATGATGGTGCTGATG GTGATGGTGATGATGGTGCTGATGGTGATGGTGACAATGGTGGTGATGGT GATGATGCTGCTGCTGCTGCTGATGATGATAGTGGTGGTGGTGACAGTGA TGATGATGGTGATGATGAT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	10/11			chr9	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(288): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0108 a0001c0001t0076g0108	1	76	0.0132	295	c.691 others(314): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(288): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0020 a0003c0005t0020	a0003c0005t0020g0099 a0003c0005t0020g0099	1	181	0.0055	295	c.165 others(312): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(288): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0006 a0006c0018t0006	a0006c0018t0006g0027 a0006c0018t0006g0027	1	193	0.0052	295	c.165 others(312): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC12A7_chr5_1045384_1117063	1098092	C C	CAACCCTC others(288): Show CAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCC CCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAG CCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCACAACCCTCTGCAAGCC CAGCCCCCACAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTG CACACCCATCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02897.hp1 NA18906.hp1 others(1): Show HG02486.hp2 HG02897.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0003 a0001c0003t0017 a0001c0017t0004 a0001c0003t0003 a0001c0003t0017 a0001c0017t0004	a0001c0003t0003g0019 a0001c0003t0017g0018 a0001c0017t0004g0020 others(1): Show a0001c0003t0003g0019 a0001c0003t0017g0018 a0001c0017t0004g0020 a0001c0017t0004g0021	4	113	0.0354	295	c.125 others(312): Show c.125-3845_125-3844insAGAGGGGGGCCTGGGTGTGCAGAGGGTT AGAGGGGGGATGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAG GGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGC AGAGGGTTGTGGGGGCTGGGCTTGCAGAGGGTTGTGGGGGCCTGGGCGTG CAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGG CGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGC TGGGTGTGCAGAGGGTT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098092	C C	CAACCCTC others(288): Show CAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCC CCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAG CCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCACAACCCTCTGCAAGCC CAGCCCCCACAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTG CACACCCATCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp2 NA18522.hp1 others(2): Show HG03453.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0010 a0001c0007 a0001c0010	a0001c0007t0005 a0001c0007t0006 a0001c0010t0005 a0001c0007t0005 a0001c0007t0006 a0001c0010t0005	a0001c0007t0005g0022 a0001c0007t0006g0023 a0001c0010t0005g0024 others(2): Show a0001c0007t0005g0022 a0001c0007t0006g0023 a0001c0010t0005g0024 a0001c0010t0005g0025 a0001c0010t0005g0026	5	114	0.0439	295	c.125 others(312): Show c.125-3845_125-3844insAGAGGGGGGCCTGGGTGTGCAGAGGGTT AGAGGGGGGATGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAG GGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGC AGAGGGTTGTGGGGGCTGGGCTTGCAGAGGGTTGTGGGGGCCTGGGCGTG CAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGG CGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGC TGGGTGTGCAGAGGGTT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(288): Show AATGGATGGATGGATGGAATGGATGGATGGATGGATGGATGGATGGATGG ATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTTGATGGTTGA ATGGATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATGGATGG ATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGATGGAATGGATG GATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGGATGGA TGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0128 a0001c0003t0003g0128	1	295	0.0034	295	c.831 others(312): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGATGGATGG ATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTTGATGG TTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATGG ATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGATGGAATG GATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGGA TGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGGG ATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCAACC others(288): Show CCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0192 a0002c0003t0002g0192	1	194	0.0052	295	c.113 others(312): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCGT CCGGGAGGGAGGTTGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCAACC others(288): Show CCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCCC ACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	194	0.0052	295	c.113 others(312): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCCGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCGT CCGGGAGGGAGGTTGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(288): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCCC ACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG03540.hp2 HG02886.hp2 HG03225.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251	3	196	0.0153	295	c.113 others(312): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCGTC CGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar

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