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
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCTC others(219): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0075 a0001c0032t0001g0075	1	134	0.0075	226	c.575 others(247): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLEKHG4B_chr5_87168_194966	165305	C C	CGGGGCGG others(219): Show CGGGGCGGGGCTCACACTAATGCTCTGACGGGGAGGGGCTCACAGTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGG CTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGG GCGGGGCTCACACTAATGCTGTGACAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0022 a0022	a0022c0046 a0022c0046	a0022c0046t0047 a0022c0046t0047	a0022c0046t0047g0180 a0022c0046t0047g0180	1	210	0.0048	226	c.347 others(245): Show c.3476+1772_3476+1773insCTAATGCTCTGACGGGGAGGGGCTCA CAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCT CTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLH_chr6_43571185_43625523	43580505	A A	ACCTCCCG others(219): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG04115.hp2 HG00639.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0162 a0001c0001t0006g0161 a0001c0001t0002g0162 a0001c0001t0006g0161	2	262	0.0076	226	c.-4- others(241): Show c.-4-1776_-4-1551dupTGACCCCCCAACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133793	T T	TCTCTCCC others(219): Show TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	227	0.0044	226	c.23 others(237): Show c.2361_*2362insCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2081		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133808	C C	CTCTCCAC others(219): Show CTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTC CACCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCCTCCCTCCCTCTCT CCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTCCCCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCCCTCCCTCTCTCCACCTTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	227	0.0044	226	c.23 others(237): Show c.2376_*2377insTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTC CACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTC CCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTC CACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2096		chr19	TogoVar
PTPN12_chr7_77532295_77645069	77533995	T T	TCCCGGAC others(219): Show TCCCGGACGGGGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCACCTCCCT CCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGG ATGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CTGGGGGCTGACGCCCCCACCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	310	0.0032	226	c.-35 others(237): Show c.-3552_-3551insCCCGGACGGGGCGGCTGGCCGGGCGGGGGTCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCGGGATGGGGGGCTGACCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCCGGGCTGGGGGCTGACGCCCCCACCTCCCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3299		chr7	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTGA others(219): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	252	0.0040	226	c.139 others(245): Show c.139-18380_139-18379insCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTC ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTGA others(219): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCT CCCAGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	252	0.0040	226	c.139 others(245): Show c.139-18380_139-18379insCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTC ATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTGA others(219): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCT CCCAGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp1 NA19030.hp2 HG02027.hp1 HG02055.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0212 a0001c0001t0011g0232 a0001c0001t0011g0235 a0001c0001t0002g0212 a0001c0001t0011g0232 a0001c0001t0011g0235	3	252	0.0119	226	c.139 others(245): Show c.139-18385_139-18384insGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAG GGCTCATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTGA others(219): Show AGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCT CCCAGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0236 a0001c0001t0006g0236	1	252	0.0040	226	c.139 others(245): Show c.139-18423_139-18422insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCC CACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844105	G G	GACCCCCC others(219): Show GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAG ACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp2 HG03942.hp2 others(1): Show HG01433.hp1 HG01496.hp2 HG03942.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0043g0045	4	252	0.0159	226	c.139 others(245): Show c.139-18380_139-18379insCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTC ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTTA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844105	G G	GACCCCCC others(219): Show GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAG ACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	252	0.0040	226	c.139 others(245): Show c.139-18385_139-18384insGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAG GGCTCATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTTACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844105	G G	GACCCCCC others(219): Show GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAG ACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	252	0.0040	226	c.139 others(245): Show c.139-18423_139-18422insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTTACCCCCCC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844106	A A	ACCCCCCC others(219): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCAGGCGGGGGGCTTAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	252	0.0040	226	c.139 others(245): Show c.139-18380_139-18379insCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTTAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844145	C C	CGGGGGGC others(219): Show CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG03669.hp2 others(1): Show HG01261.hp1 HG01433.hp2 HG03669.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0181 a0001c0001t0002g0193 others(1): Show a0001c0001t0002g0148 a0001c0001t0002g0181 a0001c0001t0002g0193 a0001c0001t0002g0221	4	252	0.0159	226	c.139 others(245): Show c.139-18380_139-18379insCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCA TCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGAC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN9_chr15_75458251_75584315	75481830	T T	TGGGGGGT others(219): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	326	0.0031	226	c.106 others(245): Show c.1063-1917_1063-1916insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
RAC2_chr22_37220270_37249269	37227256	A A	ACTCCTCC others(219): Show ACTCCTCCCATGCCTCCCATGCCATACAAGCCCTCCTGTGCCATACACAC CCCTCCCACGCCATACACCCCCCTCCCACGCCTCCCACACCATACAAGCC CTCCCGTGCCATACACCCCTCCCACAGCATATAACCCCTCCCACGCCATA CAACCCCTCCCACGCCATACACCCTCCCATACCCCTCCCACGCCTCCCAC GCCATACAACCCTCCCATGACATACAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0165 a0001c0009t0006g0165	1	448	0.0022	226	c.449 others(241): Show c.449-454_449-453insCTGTATGTCATGGGAGGGTTGTATGGCGTG GGAGGCGTGGGAGGGGTATGGGAGGGTGTATGGCGTGGGAGGGGTTGTAT GGCGTGGGAGGGGTTATATGCTGTGGGAGGGGTGTATGGCACGGGAGGGC TTGTATGGTGTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGAGGGGTG TGTATGGCACAGGAGGGCTTGTATGGCATGGGAGGCATGGGAGGAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RASA3_chr13_113972783_114137623	114008553	C C	CCCACGCA others(219): Show CCCACGCACCGCGTTCCTGACCGTGGGGAGGAGCAGAGCCCTGCGGTCTG GACGTTCCCCACGCACCGCGTTCCTGACCGTGGGGAGGAGCAGAGCCCTG CGGTCTGGACGTTCCCCACGCACCGCGTTCCTGACCGTGGGGAGGAGCAG AGCCCTGCGGTCTGGACGTTCCCCACGCACCGCGTTCCTGACCGTGGGGA GGAGCAGAGCCCTGCGGTCTGGACGTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	67	0.0149	226	c.166 others(243): Show c.1668+833_1668+834insAACGTCCAGACCGCAGGGCTCTGCTCCT CCCCACGGTCAGGAACGCGGTGCGTGGGGAACGTCCAGACCGCAGGGCTC TGCTCCTCCCCACGGTCAGGAACGCGGTGCGTGGGGAACGTCCAGACCGC AGGGCTCTGCTCCTCCCCACGGTCAGGAACGCGGTGCGTGGGGAACGTCC AGACCGCAGGGCTCTGCTCCTCCCCACGGTCAGGAACGCGGTGCGTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	17/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099698	G G	GCAGCCCC others(219): Show GCAGCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCC CCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACATCAGCCCCCC CACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCC CCCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCCCACAGCCCCCC ACAGCCCCCACAGCAGCCCCCCCACAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	67	0.0149	226	c.56- others(243): Show c.56-25862_56-25861insATGTGGGGGGGCTGCTGTGGGGGCTGTG GGGGGCTGTGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGTGGGG GCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGG GGGGGCTGATGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGG GGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBCK1_chr20_403299_437139	420664	T T	TGCCCACC others(219): Show TGCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCC ATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGT CCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCC ATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGT CCCCCATCCCCCGTCCCCATCCCCCAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18952.hp2 NA18991.hp2 others(3): Show NA18940.hp1 NA18952.hp2 NA18991.hp2 NA18998.hp2 NA19012.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0296 a0001c0001t0001g0007 a0001c0001t0001g0296	6	452	0.0133	226	c.757 others(241): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACGCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(219): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTC CCCATCCCCCGTCCCCATCCCCCCACC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	452	0.0022	226	c.757 others(241): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCGTCCCCATCCCCCGTCCCCATCCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(219): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTC CCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(184): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0004t0003 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(157): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0226 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0058 a0001c0001t0002g0089 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0170 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0251 a0001c0001t0002g0291 a0001c0001t0002g0343 a0001c0001t0003g0003 a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0001t0003g0092 a0001c0001t0003g0179 a0001c0001t0003g0258 a0001c0001t0003g0332 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0026 a0001c0001t0004g0230 a0001c0001t0004g0289 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0310 a0001c0001t0004g0330 a0001c0001t0004g0341 a0001c0001t0005g0130 a0001c0001t0006g0236 a0001c0001t0006g0357 a0001c0001t0007g0276 a0001c0001t0010g0218 a0001c0001t0011g0237 a0001c0001t0011g0238 a0001c0001t0012g0019 a0001c0001t0012g0065 a0001c0001t0013g0309 a0001c0001t0013g0329 a0001c0001t0014g0126 a0001c0001t0017g0220 a0001c0001t0018g0131 a0001c0001t0021g0027 a0001c0001t0022g0146 a0001c0004t0003g0340 a0001c0005t0001g0069	187	452	0.4137	226	c.757 others(241): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(219): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCCCGTC CCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	452	0.0022	226	c.757 others(241): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCGCCGTCCCCCAT CTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6450775	A A	ATATATAC others(219): Show ATATATACATATATATATGTATATATATATATACATATATATATGTATAT ATATATATACATATATATATGTATATATATATACACATATATATGTATAT ATATATACATATATATATGTATATATATATATATATGTATATATATATAT ACATATATGTATATATATATACATATATATATGTATATATATATACATAT ATGTATATATATATACATATATATATG	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA21309.hp2 HG02148.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0053 a0001c0001t0001g0059	2	68	0.0294	226	c.-64 others(247): Show c.-64+133724_-64+133725insCATATATATATGTATATATATATA TACATATATATATGTATATATATATATACATATATATATGTATATATATA TACACATATATATGTATATATATATACATATATATATGTATATATATATA TATATGTATATATATATATACATATATGTATATATATATACATATATATA TGTATATATATATACATATATGTATATATATATACATATATATATGTATA TA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RERE_chr1_8347404_8822640	8501711	T T	TGGGGGGA others(219): Show TGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCGACCGGGAGGTGAGG GGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0146 a0001c0004t0006g0146	1	204	0.0049	226	c.880 others(243): Show c.880-4183_880-4182insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCC CTCACCTCCCGGTCGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RGSL1_chr1_182445146_182565597	182465082	A A	AATAATAA others(219): Show AATAATAATAATATTATATTATTTTTATATATTTTATATATATATATATA TTTAATTTTATATATATATTATTTTTATATATATATATTATTATATATAT AATATAATAATATTATATTATAATAATAATATTTATATATTTTATATATA TATATATTTAATTTTATATATATATTATTTTTATATATATATATATTATT ATATATATAATATAATAATATTATATT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03486.hp1 HG02280.hp1 HG03486.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0205 a0008c0010t0001g0206 a0008c0010t0001g0205 a0008c0010t0001g0206	2	338	0.0059	226	c.301 others(243): Show c.301+4961_301+4962insTTATATTATTTTTATATATTTTATATAT ATATATATATTTAATTTTATATATATATTATTTTTATATATATATATTAT TATATATATAATATAATAATATTATATTATAATAATAATATTTATATATT TTATATATATATATATTTAATTTTATATATATATTATTTTTATATATATA TATATTATTATATATATAATATAATAATATTATATTATAATAATAATA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130483725	A A	AGAGCCCC others(219): Show AGAGCCCCCGTCCCCACCTAGACACAGTGCCCGGAGCCCCCATCCCTCAC CTACACACAGTGCCCAGAGCCCCCGTCCCCACCTAGACACAGTGCCCGGA GCCCCCATCCCTCACCTACACACAGTGCCCGGAGCCCCCGTCCCCACCTA GACACAGTGCCCGGAGCCCCGACCCTCACCTACACACGGTGCCCGGAGCC CCCACCCTCACCTACACACAGTGCCCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0067 a0001c0044t0001g0067	1	180	0.0056	226	c.-3- others(241): Show c.-3-4710_-3-4709insCGGGCACTGTGTGTAGGTGAGGGTGGGGGC TCCGGGCACCGTGTGTAGGTGAGGGTCGGGGCTCCGGGCACTGTGTCTAG GTGGGGACGGGGGCTCCGGGCACTGTGTGTAGGTGAGGGATGGGGGCTCC GGGCACTGTGTCTAGGTGGGGACGGGGGCTCTGGGCACTGTGTGTAGGTG AGGGATGGGGGCTCCGGGCACTGTGTCTAGGTGGGGACGGGGGCTC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RNASE10_chr14_20500537_20518884	20505300	C C	CCCTCTCC others(219): Show CCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCTCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	396	0.0025	226	c.-72 others(235): Show c.-725_-724insCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCC TCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		236		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506555	C C	CGCCCCTA others(219): Show CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGGCCCCCGCCCGGCCAGCCGCCCTATCCAG GAGGTGAGGGGCGCCTCTGCCCCGGCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0179 a0001c0001t0048g0179	1	396	0.0025	226	c.-6+ others(239): Show c.-6+617_-6+618insCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGGCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGC CTCTGCCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(219): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 NA18998.hp2 HG00642.hp1 NA18998.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0005 a0002c0002t0002 a0003c0003t0005	a0002c0002t0002g0122 a0003c0003t0005g0002 a0002c0002t0002g0122 a0003c0003t0005g0002	2	366	0.0055	226	c.-15 others(237): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RSU1_chr10_16585611_16822424	16645996	A A	ATATACAT others(219): Show ATATACATATATACACATATATGTATATATACGTATATACACATATATGT ATATATACATATATGTATATATACGTATATACACATATATGTATATATAC GTATATATACGTATATGTATATATACATATATGTATATATACGTATATAT ACATATATGTATATATACGTATATGTATATATACGTATATGTATATATAC ATATATATGTGTGTATATACATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0001 a0001c0001t0033g0001	1	190	0.0053	226	c.731 others(245): Show c.731+49026_731+49027insCATATATGTATATACACACATATATA TGTATATATACATATACGTATATATACATATACGTATATATACATATATG TATATATACGTATATATACATATATGTATATATACATATACGTATATATA CGTATATATACATATATGTGTATATACGTATATATACATATATGTATATA TACATATATGTGTATATACGTATATATACATATATGTGTATATATGTATA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RUNX1_chr21_34782801_35054302	34849417	T T	TTATATAG others(219): Show TTATATAGTATATATACTATAGTATATATACTATATATAATATAGTATAT ATACTATATATAATATATAGTATATATAATATATTATATATAGTATATAT TATATATAGTATAATATATAATATATATTATATATAGTATATATAATATA TTATATATAGTATAATATATAATATATAGTATATATATAGTATATATATA ATATATTATATATAGTATAATATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	170	0.0059	226	c.613 others(245): Show c.613+10056_613+10057insTTATATATTATACTATATATAATATA TTATATATATACTATATATATACTATATATTATATATTATACTATATATA ATATATTATATATACTATATATAATATATATTATATATTATACTATATAT AATATATACTATATATAATATATTATATATACTATATATTATATATAGTA TATATACTATATTATATATAGTATATATACTATAGTATATATACTATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34849417	T T	TTATATAG others(219): Show TTATATAGTATATATACTATAGTATATATACTATATATAATATAGTATAT ATACTATATATAATATATAGTATATATACTATATTATATATAGTATATAT TATATATAGTATAATATATAATATATATTATATATAGTATATATAATATA TTATATATAGTATAATATATAATATATAGTATATATATAGTATATATATA ATATATTATATATAGTATAATATATAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	170	0.0059	226	c.613 others(245): Show c.613+10056_613+10057insTTATATATTATACTATATATAATATA TTATATATATACTATATATATACTATATATTATATATTATACTATATATA ATATATTATATATACTATATATAATATATATTATATATTATACTATATAT AATATATACTATATATAATATAGTATATATACTATATATTATATATAGTA TATATACTATATTATATATAGTATATATACTATAGTATATATACTATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
SAMD11_chr1_918923_949574	934213	G G	GGCTGCGT others(219): Show GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TCCGTTACAGGTGGGCGGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0019 a0019	a0019c0041 a0019c0041	a0019c0041t0003 a0019c0041t0003	a0019c0041t0003g0160 a0019c0041t0003g0160	1	434	0.0023	226	c.843 others(243): Show c.843-1556_843-1555insGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934909	A A	AGGCGGCT others(219): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCAGGGGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0200 a0001c0001t0013g0200	1	434	0.0023	226	c.843 others(241): Show c.843-836_843-835insAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SATL1_chrX_85087284_85248779	85088155	C C	CATACATA others(219): Show CATACATATTTATACATATATATGTATAAATACATACATATTTATACATA TATATGTATAAATACATACATATTTATACATATATATGTATAAATACATA CATATTTATACATATATATGTATAAATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATATACA TATATGTATAAATATATATGTATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG01884.hp2 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0067 a0003c0003t0001g0091 a0003c0003t0001g0067 a0003c0003t0001g0091	2	232	0.0086	226	c.42 others(237): Show c.4235_*4236insATGTATACATATATATTTATACATATATGTATAT GTATTTATACATATATATGTATAAATATGTATGTATTTATACATATATAT GTATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTAT TTATACATATATATGTATAAATATGTATGTATTTATACATATATATGTAT AAATATGTATGTATTTATACATATATATGTATAAATATGTAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4128		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	T T	TCCCCCGT others(219): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	290	0.0035	226	c.166 others(243): Show c.1663-653_1663-652insCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP7_chr3_101319205_101518212	101439609	G G	GGCCGCCC others(219): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCC GTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0044 a0002c0002t0017g0044	1	370	0.0027	226	c.284 others(245): Show c.284+19120_284+19345dupTGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(219): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA TATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATA ATATAATATATTATATTTTATTATAAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0016 a0001c0001t0026g0016	1	150	0.0067	226	c.192 others(245): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATT ATATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATAT ATTATATTTTATTATAATATATTATATTTTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	15119560	A A	AATTTTCT others(219): Show AATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0007 a0001c0001t0022g0007	1	102	0.0098	226	c.39+ others(245): Show c.39+118024_39+118025insCAGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SH3BP5_chr3_15249353_15337586	15272534	C C	CATTACAA others(219): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATT ACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGT AGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAA AACAGAGTGCCCGTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0328 a0001c0002t0001g0328	1	376	0.0027	226	c.331 others(243): Show c.331-2658_331-2657insATGTCTTTATCCTACGGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTA CAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTA ATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGG CACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SLC17A5_chr6_73588379_73658992	73601481	T T	TGGCCAGC others(219): Show TGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCACCCCGTCCAGGA GGGAGGTGGGGGGCTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGGTCAGCACCCCGCCTGGCCAGCCACCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	324	0.0031	226	c.126 others(245): Show c.1260-1041_1260-1040insGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGTGCTGACCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTCC CTCCTGGACGGGGTGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140362568	C C	CGGCCAGC others(219): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCCGCC TGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACCGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0315 a0002c0002t0001g0315	1	346	0.0029	226	c.375 others(243): Show c.375+1839_375+1840insAGGCGGGGGGGCTGATCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCGGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC43A3_chr11_57401954_57432121	57403506	A A	AGAGGAAG others(219): Show AGAGGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGA AGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	330	0.0030	226	c.42 others(237): Show c.4285_*4286insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCCT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCCTCTTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCCTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3447		chr11	TogoVar
SLC5A4_chr22_32213464_32260347	32213700	G G	GTATATAT others(219): Show GTATATATCTATATATGTATACATATATATCTATACATATATGTATATAT CTATATATGTATACATATATATCTATACATATATATGGATATATATCTAT ATATGTATACATATATATCTATACATATATATGGATATATATCTATATAT GTATACATATATATCTATACATATATATGGATATATATCTATATATGTAT ACATATATATCTATACATATATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03654.hp2 HG03195.hp2 HG03654.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0003c0005t0001 a0001c0003t0001 a0003c0005t0001	a0001c0003t0001g0081 a0003c0005t0001g0005 a0001c0003t0001g0081 a0003c0005t0001g0005	2	302	0.0066	226	c.48 others(237): Show c.4813_*4814insTCCATATATATGTATAGATATATATGTATACATA TATAGATATATATCCATATATATGTATAGATATATATGTATACATATATA GATATATATCCATATATATGTATAGATATATATGTATACATATATAGATA TATATCCATATATATGTATAGATATATATGTATACATATATAGATATATA CATATATGTATAGATATATATGTATACATATATAGATATATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		4763		chr22	TogoVar
SLC66A2_chr18_79897420_79956653	79920123	C C	CAGGAACC others(219): Show CAGGAACCGAGGGAGAGGTCAAGGTCACTGGGGAGAGACGGAACCGAGGG AGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAG ATGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGTG AGAGGTCAAGGTCAGTGAGGAGAGACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0272 a0001c0001t0007g0272	1	352	0.0028	226	c.392 others(241): Show c.392-724_392-723insTGTCTCTCCTCACTGACCTTGACCTCTCAC TCGGTTCCGTCTCTCCCCACTGACCTTGACCTCTCCCTCGGTTCCATCTC TCCCCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACC TTGACCTCTCCCTCGGTTCCTGTCTCTCCCCACTGACCTTGACCTCTCCC TCGGTTCCGTCTCTCCCCAGTGACCTTGACCTCTCCCTCGGTTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921050	G G	GGAGAGGT others(219): Show GGAGAGGTCAAGCTCAGTGGGGAGAGACGGAACCGAGTGAGAGGTCAAGG TCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGACAGGAACCGA GGGAGAGGTCAGGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAA GCTCAGTGGGGAGAGACGGAACCGAGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0280 a0001c0001t0007g0280	1	352	0.0028	226	c.392 others(243): Show c.392-1651_392-1650insACTCGGTTCCGTCTCTCCCCACTGAGCT TGACCTCTCCCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCCCT CGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCCCTCGGTTCCTGTCT CTCCTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGAC CTTGACCTCTCACTCGGTTCCGTCTCTCCCCACTGAGCTTGACCTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921181	G G	GAGGAGAG others(219): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGGAACCGAGGGAG AGGTCAGGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCA GTGGGGAGAGACGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0280 a0001c0001t0007g0280	1	352	0.0028	226	c.392 others(243): Show c.392-1782_392-1781insACTGACCTTGACCTCTCCCTCGGTTCCT GTCTCTCCTCACTGACCTTGACCTCTCACTCGGTTCCGTCTCTCCCCACT GAGCTTGACCTCTCCCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTC TCCCTCGGTTCCCGTCTCTCCCCACTGACCTTGACCTCTCCCTCGGTTCC TGTCTCTCCTCACTGACCCTGACCTCTCCCTCGGTTCCTGTCTCTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238543	G G	GTCAGGTT others(219): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGG ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0148 a0001c0009t0002g0148	1	456	0.0022	226	c.732 others(241): Show c.732+497_732+498insGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCT GGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGA AAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238543	G G	GTCAGGTT others(219): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19056.hp1 NA18946.hp2 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0077 a0001c0002t0001g0057 a0001c0002t0001g0077	2	456	0.0044	226	c.732 others(241): Show c.732+497_732+498insGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC TGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGA AAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar

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