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
PFKFB3_chr10_6197932_6240532	6210810	ATGTTAGC others(93): Show ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC G	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18957.hp1 NA18965.hp1 others(4): Show HG02056.hp1 NA18957.hp1 NA18965.hp1 NA18975.hp1 NA18993.hp2 NA19005.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0071	a0001c0001t0001g0097 a0001c0001t0001g0225 a0001c0001t0001g0236 others(4): Show a0001c0001t0001g0097 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0368 a0001c0001t0005g0316 a0001c0001t0006g0263 a0001c0001t0071g0364	7	428	0.0164	-100	c.77- others(115): Show c.77-2790_77-2691delAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATAGTCTTGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHACTR3_chr20_59599540_59852711	59674477	CCCCTTGT others(93): Show CCCCTTGTTCTCGTTCCCCTTCTCCTGTTCCCCCTTCTCCTGTCCCCGCT TCTTCTGTCTCCCCTTCTGTTCCCTCCTTCTCCTATTCCCCGCTTCTCCT G	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00741.hp1 others(27): Show HG00408.hp2 HG00597.hp2 HG00741.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02109.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03669.hp1 HG06807.hp1 NA18612.hp2 NA18948.hp2 NA18993.hp2 NA18994.hp1 NA19043.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0003c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0050 others(27): Show a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0002g0212 a0001c0001t0003g0044 a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0004g0083 a0001c0001t0004g0096 a0001c0001t0004g0199 a0001c0001t0014g0208 a0001c0001t0017g0046 a0003c0004t0001g0095	30	246	0.1220	-100	c.119 others(119): Show c.119-68629_119-68530delCCCTTGTTCTCGTTCCCCTTCTCCTG TTCCCCCTTCTCCTGTCCCCGCTTCTTCTGTCTCCCCTTCTGTTCCCTCC TTCTCCTATTCCCCGCTTCTCCTG	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12			chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59819701	AGTGCTGT others(93): Show AGTGCTGTCCCAGTACTGGCCACCCGTCAACTGAGGCACCTGATTGGGCC GGTGCTGTCCCGGTACTGGCCACCCGTCAGCTGAGGCACCTGGCTGGGCC G	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	248	0.0040	-100	c.132 others(121): Show c.1328+13518_1328+13617delAGTACTGGCCACCCGTCAACTGAG GCACCTGATTGGGCCGGTGCTGTCCCGGTACTGGCCACCCGTCAGCTGAG GCACCTGGCTGGGCCGGTGCTGTCCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PID1_chr2_229018973_229276287	229184688	GTATATAT others(93): Show GTATATATATATATCCCGTATATATATATCCCGTATATATATATATCCCG TATATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTAT A	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	186	0.0054	-100	c.31- others(117): Show c.31-28824_31-28725delTATACGGGATATATATATACGGGATATA TATATATACGGGATATATATATACGGGATATATATATATACGGGATATAT ATATACGGGATATATATATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(93): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00597.hp1 others(33): Show HG00140.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01978.hp2 HG02004.hp1 HG02109.hp1 HG02135.hp1 HG02735.hp1 HG03491.hp2 HG03834.hp1 NA18944.hp1 NA18970.hp2 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19012.hp2 NA19054.hp1 NA19068.hp1 NA19070.hp2 NA19078.hp1 NA19083.hp2 NA19086.hp1 NA20300.hp1	a0001 a0006 a0010 others(1): Show a0001 a0006 a0010 a0015	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0014 a0001c0019 a0006c0032 a0010c0018 a0015c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0002t0002 a0001c0007t0002 a0001c0007t0010 a0001c0009t0004 a0001c0014t0001 a0001c0019t0016 a0006c0032t0001 a0010c0018t0002 a0015c0016t0001	a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0106 others(33): Show a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0106 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0002g0200 a0001c0001t0006g0273 a0001c0001t0007g0011 a0001c0001t0008g0161 a0001c0001t0008g0221 a0001c0001t0009g0201 a0001c0001t0023g0202 a0001c0002t0002g0129 a0001c0002t0002g0182 a0001c0002t0002g0199 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0007t0002g0204 a0001c0007t0002g0211 a0001c0007t0010g0187 a0001c0009t0004g0212 a0001c0014t0001g0223 a0001c0019t0016g0010 a0006c0032t0001g0082 a0010c0018t0002g0233 a0015c0016t0001g0183	36	107	0.3364	-100	c.-84 others(117): Show c.-84-1272_-84-1173delCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAATGAAGCCATCAT GTGAGAATACCAGTGAAGCCAT	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIP5K1C_chr19_3625183_3705468	3649048	TTGTCACC others(93): Show TTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA CTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA C	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0044 a0012c0019t0044	a0012c0019t0044g0037 a0012c0019t0044g0037	1	167	0.0060	-100	c.112 others(117): Show c.1128-440_1128-341delGTTAACTCCCGCGCTGGGCAGGGGACGT GTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGGGGACGT GTGGGCATGGTGCCGGGTGACA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PLAUR_chr19_43643579_43675169	43643681	TGAATAGT others(93): Show TGAATAGTGTCCTCCAAGTAAAATATATGTTGAAGTTCTAGCCCCTGGTA TCTGTACATGTGACCTTATTTGGAAATAAAATCTTTGCAAATGTAATTCA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	423	0.0024	-100	c.51 others(111): Show c.5109_*5208delGTGAATTACATTTGCAAAGATTTTATTTCCAAAT AAGGTCACATGTACAGATACCAGGGGCTAGAACTTCAACATATATTTTAC TTGGAGGACACTATTC	PLAUR	ENSG00000011422.12	transcript	ENST00000340093.8	protein_coding		4897		chr19	TogoVar
PLCXD1_chrX_276381_308356	280777	GGGGAGGC others(93): Show GGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAGGGGAGGCCG TGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0041 a0001c0010t0041	a0001c0010t0041g0167 a0001c0010t0041g0167	1	149	0.0067	-100	c.-92 others(109): Show c.-928_-829delGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGG GGAGGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGAGG CCGTGCAGGGGGAA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		603		chrX	TogoVar
PLXDC2_chr10_19811432_20294856	20126589	CACACACG others(93): Show CACACACGTTATATATGTATATATAACACACACGTTATATATGTATATAT AACACACACGTTATATATGTATATATAACACACGTTATATATGTATATAT A	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG01169.hp1 others(1): Show HG00733.hp1 HG01168.hp1 HG01169.hp1 NA18959.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0112 a0003c0003t0008 a0003c0003t0018 others(1): Show a0002c0002t0112 a0003c0003t0008 a0003c0003t0018 a0003c0003t0079	a0002c0002t0112g0035 a0003c0003t0008g0018 a0003c0003t0018g0091 others(1): Show a0002c0002t0112g0035 a0003c0003t0008g0018 a0003c0003t0018g0091 a0003c0003t0079g0090	4	178	0.0225	-100	c.542 others(119): Show c.542-16657_542-16558delTAACACACACGTTATATATGTATATA TAACACACGTTATATATGTATATATAACACACGTTATATATGTATATATA ACACACACGTTATATATGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA4_chr7_132118340_132581470	132132437	GTTCTGTT others(93): Show GTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGCTCTGCTCTGCTCTGCTCT GCTCTATTCTTTTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCT A	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG03139.hp2 HG01496.hp1 HG02647.hp1 HG03139.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0019 a0002c0016 a0004c0036 a0001c0019 a0002c0016 a0004c0036	a0001c0019t0006 a0002c0016t0006 a0004c0036t0006 a0001c0019t0006 a0002c0016t0006 a0004c0036t0006	a0001c0019t0006g0075 a0002c0016t0006g0074 a0004c0036t0006g0031 a0001c0019t0006g0075 a0002c0016t0006g0074 a0004c0036t0006g0031	3	86	0.0349	-100	c.558 others(117): Show c.5589+512_5589+611delTAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAAAAGAATAGAGCAGAGCAGAGCAGAGCAGAGCAGAACAG AACAGAACAGAACAGAACAGAA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PPP2R2D_chr10_131896008_131964834	131917763	GCGGGTGG others(93): Show GCGGGTGGAATGACACAGTGTAGGGACCTCACGTGGGTGGAATGACACAG TGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCAC A	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0177 a0001c0001t0063g0177	1	392	0.0026	-100	c.100 others(119): Show c.100+16454_100+16553delAGGGACCTCACGTGGGTGGAATGACA CAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCT CACACGGGTGGAATGACACAGTGT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R5C_chr14_101756709_101932977	101782482	CTCTCCCC others(93): Show CTCTCCCCCTTCCCCTCCCTCTCTTTCCTCTTTCTCTCTCCCCCTCCCCC TCCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCT T	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0129 a0002c0002t0003g0129	1	135	0.0074	-100	c.94- others(115): Show c.94-3528_94-3429delCTTCCCCTCCCTCTCTTTCCTCTTTCTCTC TCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCT CTCTCCCCCCCTTTCTCCCC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101782490	CTTCCCCT others(93): Show CTTCCCCTCCCTCTCTTTCCTCTTTCTCTCTCCCCCTCCCCCTCCCTCTC TCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCCC A	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG04115.hp1 HG02895.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0113 a0001c0001t0014g0110 a0001c0001t0001g0113 a0001c0001t0014g0110	2	136	0.0147	-100	c.94- others(115): Show c.94-3512_94-3413delTTCCTCTTTCTCTCTCCCCCTCCCCCTCCC TCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCT CCCCATTCCCCTCCCTCTCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKD1_chr14_29571479_29932847	29826361	TATATATA others(93): Show TATATATATACATATATATGATGGAATATATATATACATATATATGATGG AATATATATATACATATATGATGGAATATATATATACATATATATGATGG A	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG02976.hp1 others(1): Show HG02717.hp1 HG02818.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0002g0082 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0002g0082 a0001c0001t0002g0083	4	156	0.0256	-100	c.265 others(121): Show c.265-100787_265-100688delTCCATCATATATATGTATATATAT ATTCCATCATATATGTATATATATATTCCATCATATATATGTATATATAT ATTCCATCATATATATGTATATATAT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKN_chr6_161342417_162732766	161645945	CGGAGGAG others(93): Show CGGAGGAGGTGGCGTATCAGTGACAGTGGTCACTGCGTGTGCGTGCGTGG CGGAGGAGGTGGCGTATCAGTGACAGTGGTGACTGCGTGTGCATGCGTGG T	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02602.hp2 HG03209.hp1 others(1): Show HG01361.hp1 HG02602.hp2 HG03209.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0005g0003	4	32	0.1250	-100	c.872 others(119): Show c.872-76629_872-76530delACCACGCATGCACACGCAGTCACCAC TGTCACTGATACGCCACCTCCTCCGCCACGCACGCACACGCAGTGACCAC TGTCACTGATACGCCACCTCCTCC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PSMA7_chr20_62131733_62148394	62145968	AGTCTACA others(93): Show AGTCTACAACTTGTCCTTACAGCATTCTGCGTGGTAGCGAAGGAGAAAGA GGTCTACAACTTGTCCTTACAGCATTCTGCGTGGTAGTGAAGGAGAAGGA G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02257.hp2 HG02280.hp1 others(1): Show HG01167.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0013 a0001c0002t0004g0013	4	360	0.0111	-100	c.-27 others(111): Show c.-2765_-2666delCTCCTTCTCCTTCACTACCACGCAGAATGCTGTA AGGACAAGTTGTAGACCTCTTTCTCCTTCGCTACCACGCAGAATGCTGTA AGGACAAGTTGTAGAC	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		2575		chr20	TogoVar
PTDSS2_chr11_445279_496399	485784	CCGTGCGC others(93): Show CCGTGCGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACC GTGCGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACCGT G	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG02572.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0010 a0001c0001t0010 a0001c0002t0010	a0001c0001t0010g0053 a0001c0002t0010g0204 a0001c0001t0010g0053 a0001c0002t0010g0204	2	344	0.0058	-100	c.436 others(117): Show c.436-1152_436-1053delTGCGCGCAGGCGAGCGTAAACAGTGCAC GGGCGCGCGTGTGCTCACCGTGCGCGCAGGCGAGCGTAAACAGTGCACGG GCGCGCGTGTGCTCACCGTGCG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTGER4_chr5_40674915_40698735	40697051	GGAAAGAA others(93): Show GGAAAGAAAGAAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAGAAAA GAAAGAAAGGAAAGAAAAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01081.hp1 others(53): Show HG00423.hp1 HG00673.hp2 HG01081.hp1 HG01257.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 NA18941.hp1 NA18945.hp2 NA18952.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18994.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19068.hp1 NA19072.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0071 a0001c0001t0013g0003	56	404	0.1386	-100	c.46 others(111): Show c.4674_*4773delGAAAGAAAGAAAAGAAAGAAAGGAAGGAAGGAAG GAAAGAAAGAGAAAAGAAAGAAAGGAAAGAAAAAAGAAAGAAAGGAAGGA AGGAAGGAAAGAAAGA	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3317		chr5	TogoVar
PTGES3L_chr17_42963103_42985080	42967407	ATAAATAT others(93): Show ATAAATATATATGTATTTATATATGTAGATATATAATATATAAAATATAT ATAATATGTATCATATATAATTTATATATTATATATTTTAAATATATAAT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01256.hp2 others(9): Show HG01099.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp2 HG02698.hp1 HG02738.hp1 HG03239.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0023 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113	12	324	0.0370	-100	c.16 others(111): Show c.1641_*1740delAATTATATATTTAAAATATATAATATATAAATTA TATATGATACATATTATATATATTTTATATATTATATATCTACATATATA AATACATATATATTTA	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		695		chr17	TogoVar
PTGFR_chr1_78485974_78545701	78532382	ATATATAT others(93): Show ATATATATATATATATGTATATATGTGTATATATATGTGTGTATATATGT GTATATATTTGTGTGTGTATATGTGTATATATTTGTGTGTGTATATATGT G	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG03453.hp2 others(3): Show HG02280.hp1 HG02809.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0023 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0023 a0001c0002t0001 a0001c0002t0031	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0011g0239 others(3): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0011g0239 a0001c0001t0023g0254 a0001c0002t0001g0322 a0001c0002t0031g0316	6	384	0.0156	-100	c.799 others(117): Show c.799-4022_799-3923delATATATATATATATGTATATATGTGTAT ATATATGTGTGTATATATGTGTATATATTTGTGTGTGTATATGTGTATAT ATTTGTGTGTGTATATATGTGT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PUM1_chr1_30926506_31070717	30972367	GGGAGGGG others(93): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGAGAAGAGAAGAGAAG A	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG02155.hp2 others(7): Show HG00639.hp2 HG01070.hp1 HG02155.hp2 HG02886.hp2 NA18522.hp1 NA18941.hp2 NA18962.hp2 NA18979.hp2 NA19009.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0081 others(7): Show a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0004g0061 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0122 a0001c0001t0004g0124	10	312	0.0321	-100	c.150 others(119): Show c.1506+2184_1506+2283delTCTTCTCTTCTCTTCTCTTCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PZP_chr12_9143840_9213395	9197418	TAAAATAA others(93): Show TAAAATAATTATTAATTATTGGAGTACTGCTTAATAATATATAATAATAT AATATATAATAATATAATATATTATATATAAATATATTATGTATAATGTT G	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp1 NA19240.hp1 HG02280.hp1 NA18522.hp1 NA19240.hp1	a0001 a0038 a0001 a0038	a0001c0026 a0038c0042 a0001c0026 a0038c0042	a0001c0026t0001 a0038c0042t0001 a0001c0026t0001 a0038c0042t0001	a0001c0026t0001g0035 a0001c0026t0001g0126 a0038c0042t0001g0162 a0001c0026t0001g0035 a0001c0026t0001g0126 a0038c0042t0001g0162	3	332	0.0090	-100	c.756 others(115): Show c.756-395_756-296delCAACATTATACATAATATATTTATATATAA TATATTATATTATTATATATTATATTATTATATATTATTAAGCAGTACTC CAATAATTAATAATTATTTT	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	7/35			chr12	TogoVar
RAB11FIP2_chr10_117999916_118051941	118032338	AATAGACT others(93): Show AATAGACTTTTCTGCCTGGTCTTCAATGCTCACTATAATTTAGGGTGTGT GTGTGTGCATTAGGTGCGTGCGTGCGTGTGTGTGTGTTTAACCTATTCAG C	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0084 a0001c0001t0039g0084	1	398	0.0025	-100	c.126 others(119): Show c.1265+6534_1265+6633delGCTGAATAGGTTAAACACACACACAC GCACGCACGCACCTAATGCACACACACACACCCTAAATTATAGTGAGCAT TGAAGACCAGGCAGAAAAGTCTAT	RAB11FIP2	ENSG00000107560.12	transcript	ENST00000355624.8	protein_coding	3/4			chr10	TogoVar
RAB5A_chr3_19942097_19990175	19969952	TGCCACCA others(93): Show TGCCACCATGCCCGGCTAATTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTGGTCAGGCTGGCCTTGAATTCCAGACCTTGTGATCCACCCACCTC G	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(173): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp1 NA18991.hp1 NA18999.hp1 NA19002.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0004 a0001c0002t0012 a0001c0002t0016 a0001c0002t0017 a0001c0004t0002 a0001c0005t0004	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0013 others(140): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0285 a0001c0001t0003g0033 a0001c0001t0003g0058 a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0001t0003g0084 a0001c0001t0004g0031 a0001c0001t0004g0144 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0005g0004 a0001c0001t0005g0011 a0001c0001t0005g0022 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0284 a0001c0001t0006g0010 a0001c0001t0006g0112 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0009g0020 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0009g0105 a0001c0001t0010g0021 a0001c0001t0010g0109 a0001c0001t0010g0111 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0011g0110 a0001c0001t0013g0009 a0001c0001t0019g0002 a0001c0001t0020g0002 a0001c0001t0021g0113 a0001c0001t0022g0251 a0001c0002t0001g0170 a0001c0002t0001g0174 a0001c0002t0001g0188 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0004g0015 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0268 a0001c0002t0004g0269 a0001c0002t0004g0270 a0001c0002t0004g0272 a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0004g0275 a0001c0002t0004g0277 a0001c0002t0004g0278 a0001c0002t0004g0279 a0001c0002t0012g0023 a0001c0002t0012g0172 a0001c0002t0016g0267 a0001c0002t0017g0116 a0001c0004t0002g0227 a0001c0004t0002g0228 a0001c0005t0004g0015 a0001c0005t0004g0271	176	344	0.5116	-100	c.164 others(117): Show c.164-5545_164-5446delACCATGCCCGGCTAATTTGTATTTTTAG TAGAGACGGGTTTTCACCATGTTGGTCAGGCTGGCCTTGAATTCCAGACC TTGTGATCCACCCACCTCGGCC	RAB5A	ENSG00000144566.11	transcript	ENST00000273047.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RADIL_chr7_4792055_4888716	4808721	AACGCCAC others(93): Show AACGCCACTGCCCCTCCGCGTCTCCTTCCAACGCCACTGCCCCCCGTTCC GACGCCACTGCCCTCCATTCCAACACCACTGCCCCTCCGTGTCTCCTTCC G	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0025 a0025	a0025c0053 a0025c0053	a0025c0053t0061 a0025c0053t0061	a0025c0053t0061g0189 a0025c0053t0061g0189	1	288	0.0035	-100	c.214 others(119): Show c.2140-3105_2140-3006delCGGAAGGAGACACGGAGGGGCAGTGG TGTTGGAATGGAGGGCAGTGGCGTCGGAACGGGGGGCAGTGGCGTTGGAA GGAGACGCGGAGGGGCAGTGGCGT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RBFOX3_chr17_79084345_79616051	79512609	GGGGACGC others(93): Show GGGGACGCACACCCGGATACATGTTACCATCGGGTACGGCCCCATGGCCA GGGGACACCCACCCGGATACGTGTTACCATCGGGTACAGCCCCATGGCCA A	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG02258.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0142 a0001c0001t0006g0125 a0001c0001t0005g0142 a0001c0001t0006g0125	2	152	0.0132	-100	c.-31 others(121): Show c.-319-30111_-319-30012delTTGGCCATGGGGCTGTACCCGATG GTAACACGTATCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATG GTAACATGTATCCGGGTGTGCGTCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RERE_chr1_8347404_8822640	8668894	ATCTGTGA others(93): Show ATCTGTGAATATTCTAAAATGCACTAAACTCTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTTGTGTTTTTAAGACAGGGTCTCACTCTGTC T	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(78): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00741.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01981.hp1 HG02004.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp1 NA18944.hp1 NA18946.hp1 NA18964.hp2 NA18967.hp1 NA18973.hp1 NA18983.hp2 NA18985.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0018 a0002c0006 a0002c0026 a0003c0008 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0036 a0001c0002t0005 a0001c0002t0013 a0001c0003t0004 a0001c0003t0008 a0001c0003t0011 a0001c0003t0012 a0001c0003t0015 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0005t0019 a0001c0007t0001 a0001c0007t0004 a0001c0009t0004 a0001c0010t0007 a0001c0010t0013 a0001c0011t0007 a0001c0015t0001 a0001c0016t0020 a0001c0018t0001 a0002c0006t0003 a0002c0026t0008 a0003c0008t0001 a0004c0012t0008	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 others(78): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0124 a0001c0001t0003g0141 a0001c0001t0006g0184 a0001c0001t0036g0194 a0001c0002t0005g0125 a0001c0002t0013g0052 a0001c0003t0004g0006 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0016 a0001c0003t0004g0018 a0001c0003t0004g0020 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0078 a0001c0003t0008g0105 a0001c0003t0011g0108 a0001c0003t0011g0112 a0001c0003t0012g0017 a0001c0003t0012g0021 a0001c0003t0015g0147 a0001c0004t0001g0001 a0001c0004t0001g0048 a0001c0004t0003g0092 a0001c0004t0005g0122 a0001c0005t0019g0029 a0001c0007t0001g0007 a0001c0007t0004g0043 a0001c0007t0004g0046 a0001c0009t0004g0015 a0001c0009t0004g0019 a0001c0010t0007g0025 a0001c0010t0007g0033 a0001c0010t0013g0023 a0001c0011t0007g0026 a0001c0011t0007g0027 a0001c0011t0007g0028 a0001c0015t0001g0008 a0001c0016t0020g0004 a0001c0018t0001g0003 a0002c0006t0003g0139 a0002c0026t0008g0140 a0003c0008t0001g0005 a0003c0008t0001g0030 a0003c0008t0001g0070 a0003c0008t0001g0071 a0004c0012t0008g0137 a0004c0012t0008g0138	81	202	0.4010	-100	c.-14 others(121): Show c.-144-12553_-144-12454delAGACAGAGTGAGACCCTGTCTTAA AAACACAACACACACACACACACACACACACACACACACACACACAGAGT TTAGTGCATTTTAGAATATTCACAGA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
REV3L_chr6_111294033_111488218	111422580	ATATATAT others(93): Show ATATATATATATATACACATATATATATATATACACATATATATATATAT ACACATATATATATATATACATATATATATATACATATATATATATATAC G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02723.hp1 HG01884.hp1 HG02109.hp1 HG02723.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0003 a0006c0007t0003g0004 a0006c0007t0003g0007 a0006c0007t0003g0003 a0006c0007t0003g0004 a0006c0007t0003g0007	3	286	0.0105	-100	c.140 others(117): Show c.140-6208_140-6109delCGTATATATATATATATGTATATATATA TATGTATATATATATATATGTGTATATATATATATATGTGTATATATATA TATATGTGTATATATATATATA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RGL1_chr1_183800120_183933532	183870361	TTGTCTTC others(93): Show TTGTCTTCCGGCCAGGGTAGGTGTCTTCCGGCCAGGGTAGTTGTCTTCCG GCCAGGGTAGGTGTCTTCCGGCCAGGGTAGTTGTCTTCCGGCCAGGGTAG G	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18949.hp2 NA18956.hp1 others(1): Show HG00438.hp1 NA18949.hp2 NA18956.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0203 a0001c0002t0003g0145 a0001c0002t0003g0146 others(1): Show a0001c0001t0002g0203 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147	4	289	0.0138	-100	c.425 others(117): Show c.425+4328_425+4427delTTGTCTTCCGGCCAGGGTAGGTGTCTTC CGGCCAGGGTAGTTGTCTTCCGGCCAGGGTAGGTGTCTTCCGGCCAGGGT AGGTGTCTTCCGGCCAGGGTAG	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS22_chr8_99955936_100111049	100051612	TTTATACA others(93): Show TTTATACATATATAAATATATATTTATATATGTTTATACATATATAAATA TATATTTATATATGTTTATACATATATATATTTATATATACGTATATATA A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00673.hp1 others(42): Show HG00099.hp1 HG00597.hp2 HG00673.hp1 HG01071.hp2 HG01074.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01517.hp1 HG01934.hp1 HG02027.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03471.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18950.hp2 NA18953.hp2 NA18962.hp1 NA18963.hp1 NA18992.hp2 NA19001.hp1 NA19058.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0015	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0011 a0013c0023 a0015c0017	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0002 a0002c0011t0001 a0013c0023t0001 a0015c0017t0001	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0129 a0001c0001t0001g0199 a0001c0001t0001g0219 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0003g0248 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0080 a0001c0003t0001g0140 a0001c0003t0001g0214 a0001c0003t0001g0237 a0001c0003t0001g0275 a0001c0004t0002g0124 a0002c0011t0001g0071 a0013c0023t0001g0307 a0015c0017t0001g0046	45	308	0.1461	-100	c.168 others(119): Show c.1689+1090_1689+1189delTTATATATACGTATATATAAATATAT ATATGTATAAACATATATAAATATATATTTATATATGTATAAACATATAT AAATATATATTTATATATGTATAA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RHOT2_chr16_663132_679171	665214	ACCTCAGT others(93): Show ACCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCA GCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCA G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02145.hp2 others(8): Show HG00639.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02818.hp2 HG02886.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG06807.hp1 NA19030.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0002c0006 a0002c0022 others(1): Show a0002c0004 a0002c0006 a0002c0022 a0004c0005	a0002c0004t0001 a0002c0006t0001 a0002c0022t0001 others(1): Show a0002c0004t0001 a0002c0006t0001 a0002c0022t0001 a0004c0005t0001	a0002c0004t0001g0004 a0002c0006t0001g0004 a0002c0022t0001g0004 others(1): Show a0002c0004t0001g0004 a0002c0006t0001g0004 a0002c0022t0001g0004 a0004c0005t0001g0044	11	77	0.1429	-100	c.-29 others(111): Show c.-2985_-2886delCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCA CACTCCTGTCTTTCAGCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCA CACTCCTGTCTTTCAG	RHOT2	ENSG00000140983.15	transcript	ENST00000315082.9	protein_coding		2917		chr16	TogoVar
RNASET2_chr6_166917113_166961550	166955223	GCACACAC others(93): Show GCACACACGCACGCACGCACACACACGCACACACGCACACACACACACGC GCACACACGACACACACGCACAGACGCGCACACACGACACACACGCACAC A	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0030 a0001c0003t0028g0030	1	341	0.0029	-100	c.86+ others(113): Show c.86+774_86+873delTGTGTGCGTGTGTGTCGTGTGTGCGCGTCTGT GCGTGTGTGTCGTGTGTGCGCGTGTGTGTGTGTGCGTGTGTGCGTGTGTG TGCGTGCGTGCGTGTGTG	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RNFT2_chr12_116733315_116858631	116841792	TAAATATA others(93): Show TAAATATATATATAAATATATATATAAAAATATATATATATAAATATATA TATAAATATATATAAAAATATATATATAAATATATATATAAATATATATA A	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01243.hp2 HG02074.hp1 others(19): Show HG00544.hp1 HG01243.hp2 HG02074.hp1 HG02155.hp1 HG02523.hp2 HG02622.hp1 HG02683.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18948.hp2 NA18960.hp1 NA18974.hp2 NA18977.hp2 NA19001.hp1 NA19065.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0001t0048 a0001c0001t0049 a0001c0002t0001 a0001c0002t0004 a0001c0002t0050 a0001c0004t0026	a0001c0001t0001g0171 a0001c0001t0004g0109 a0001c0001t0004g0143 others(19): Show a0001c0001t0001g0171 a0001c0001t0004g0109 a0001c0001t0004g0143 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0177 a0001c0001t0004g0185 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0087 a0001c0001t0007g0169 a0001c0001t0007g0170 a0001c0001t0007g0174 a0001c0001t0007g0231 a0001c0001t0026g0182 a0001c0001t0048g0241 a0001c0001t0049g0184 a0001c0002t0001g0076 a0001c0002t0004g0005 a0001c0002t0004g0268 a0001c0002t0050g0004 a0001c0004t0026g0201	22	260	0.0846	-100	c.120 others(119): Show c.1200+5524_1200+5623delAATATATATATAAAAATATATATATA TAAATATATATATAAATATATATAAAAATATATATATAAATATATATATA AATATATATAAAAATATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO1_chr3_78592239_79772998	78842306	ATTTATAT others(93): Show ATTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATATAT TTTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATATAT T	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01978.hp1 HG03486.hp2 others(3): Show HG01109.hp2 HG01978.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0002t0004	a0001c0001t0001g0013 a0001c0001t0002g0007 a0001c0001t0009g0006 others(3): Show a0001c0001t0001g0013 a0001c0001t0002g0007 a0001c0001t0009g0006 a0001c0001t0010g0034 a0001c0001t0014g0041 a0001c0002t0004g0017	6	26	0.2308	-100	c.500 others(119): Show c.500-95506_500-95407delAATATATATGGCTCATATATATAAAA ATATATATGGCTCATATATATAAAAATATATATGGCTCATATATATAAAA ATATATATGGCTCATATATATAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
RPH3AL_chr17_207389_357807	235349	CCAGGGTT others(93): Show CCAGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACACTAACAAGACAGGT CCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCAGTAACAAGAGGGAT G	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	132	0.0076	-100	c.613 others(119): Show c.613+11662_613+11761delCATCCCTCTTGTTACTGCAGAGCCTC GGCCGACCCCAGCTTTGAACCCGGGACCTGTCTTGTTAGTGTAGAGCCTC GGCCGACCCCAGCTTTGAACCCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84191629	CATATATA others(93): Show CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	268	0.0037	-100	c.-38 others(111): Show c.-3830_-3731delATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3431		chrX	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(93): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02258.hp2 HG03017.hp1 others(5): Show HG01123.hp2 HG02258.hp2 HG03017.hp1 HG03209.hp1 NA18747.hp1 NA18945.hp1 NA18980.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0038 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0101 a0001c0001t0001g0190 a0001c0001t0001g0219 a0001c0002t0011g0145	8	201	0.0398	-100	c.-47 others(111): Show c.-4727_-4628delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCGB1C2_chr17_132569_144067	141211	GCCTTGGT others(93): Show GCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACATGGGGGGG A	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG03098.hp2 others(1): Show HG02258.hp1 HG02559.hp2 HG03098.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	4	397	0.0101	-100	c.22 others(111): Show c.2269_*2368delGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTG AGGGGACATGGGGGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2144		chr17	TogoVar
SCTR_chr2_119434843_119529483	119444826	TACACATA others(93): Show TACACATATATTCGTACGAATATATATACACATATATTCGTACGAATATA TATACACATATATTCGTACGAATATATATACATATATTCGTACGAATATA C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(29): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG01106.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01943.hp1 HG02027.hp2 HG02080.hp1 HG02132.hp2 HG02258.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG03453.hp1 NA18948.hp2 NA18953.hp1 NA18961.hp2 NA18971.hp1 NA18977.hp1 NA18980.hp2 NA18992.hp1 NA19000.hp2 NA19030.hp1 NA19065.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0005c0008 others(1): Show a0001c0001 a0001c0002 a0005c0008 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0005c0008t0002 a0005c0008t0003 a0007c0012t0002	a0001c0001t0001g0004 a0001c0001t0001g0156 a0001c0001t0001g0186 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0156 a0001c0001t0001g0186 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0150 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0178 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0235 a0001c0001t0002g0245 a0001c0001t0002g0255 a0001c0001t0002g0272 a0001c0001t0003g0015 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0090 a0001c0002t0001g0107 a0001c0002t0004g0071 a0005c0008t0002g0169 a0005c0008t0003g0037 a0007c0012t0002g0244	32	213	0.1502	-100	c.114 others(119): Show c.1140+1833_1140+1932delGTATATTCGTACGAATATATGTATAT ATATTCGTACGAATATATGTGTATATATATTCGTACGAATATATGTGTAT ATATATTCGTACGAATATATGTGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SGSM2_chr17_2332501_2386054	2355337	TGGGGGAA others(93): Show TGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18747.hp1 NA19070.hp2 HG04228.hp2 NA18747.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0207 a0001c0001t0001g0254 a0001c0003t0002g0215 a0001c0001t0001g0207 a0001c0001t0001g0254 a0001c0003t0002g0215	3	241	0.0124	-100	c.134 others(117): Show c.134-6295_134-6196delGAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355486	TGGGGAAG others(93): Show TGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	351	0.0028	-100	c.134 others(117): Show c.134-6097_134-5998delGAAGGGACCCCATATCTTAGAATGGTAG AATCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355883	TGGGGAAG others(93): Show TGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01071.hp2 others(8): Show HG00642.hp2 HG00738.hp1 HG01071.hp2 HG01109.hp2 HG04184.hp1 NA18612.hp1 NA18941.hp1 NA18962.hp2 NA18969.hp1 NA18972.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0001t0021 a0001c0025t0001 a0001c0001t0001 a0001c0001t0021 a0001c0025t0001	a0001c0001t0001g0073 a0001c0001t0001g0228 a0001c0001t0001g0245 others(8): Show a0001c0001t0001g0073 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0282 a0001c0001t0001g0310 a0001c0001t0001g0324 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0364 a0001c0001t0021g0325 a0001c0025t0001g0097	11	350	0.0314	-100	c.134 others(117): Show c.134-5700_134-5601delGAAGGGACCCCATATCTTAGAATGGTAG AATCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356230	TGGGGGAA others(93): Show TGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT G	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG02071.hp1 others(3): Show HG00280.hp1 HG01106.hp1 HG02071.hp1 NA18747.hp1 NA18951.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0020 a0001c0001 a0001c0003 a0001c0020	a0001c0001t0001 a0001c0003t0002 a0001c0020t0001 a0001c0001t0001 a0001c0003t0002 a0001c0020t0001	a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0184 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0367 a0001c0003t0002g0215 a0001c0020t0001g0285	6	226	0.0265	-100	c.134 others(117): Show c.134-5402_134-5303delGAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356353	GAATGGTG others(93): Show GAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTA GAATGGTGGAATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTA A	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	420	0.0024	-100	c.134 others(117): Show c.134-5234_134-5135delGAATGGTGGAATCGGGGTGTAAGGGTTG GGGGCAGGGGCCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTTG GGGGAAGGGACCCCATATCTTA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	427580	AGGGGGAA others(93): Show AGGGGGAACTGCACACGGCGCAGGGAAGGGGAATTGCGCACGGCACAGGT AAGGGGACAGGGGACGGCGCACAGCACACGGAAGGGGGCGGCACAGGGAA G	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19004.hp2 NA18960.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0146 a0001c0002t0003g0174 a0001c0002t0001g0146 a0001c0002t0003g0174	2	210	0.0095	-100	c.117 others(119): Show c.1175-2449_1175-2350delCTTCCCTGTGCCGCCCCCTTCCGTGT GCTGTGCGCCGTCCCCTGTCCCCTTACCTGTGCCGTGCGCAATTCCCCTT CCCTGCGCCGTGTGCAGTTCCCCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHTN1_chr10_116876477_117010187	116946540	TATAAATA others(93): Show TATAAATATATAAAATGATTTATATATAAATATATAAAATGATTTATATA TAAATATATAAAATGATTTATATATAAATATATAAAATGATTTATATATA A	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0153 a0001c0001t0041g0153	1	290	0.0034	-100	c.617 others(117): Show c.617-1622_617-1523delTTATATATAAATCATTTTATATATTTAT ATATAAATCATTTTATATATTTATATATAAATCATTTTATATATTTATAT ATAAATCATTTTATATATTTAT	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	7/16			chr10	TogoVar
SLC13A3_chr20_46552828_46656459	46656289	ATATAATA others(93): Show ATATAATATACTATACAGTATATATTATACTGTATATGATATACTATACA GTATATATTATACTGTATATGATATACTATACAGTATATATTATACTGTA T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02055.hp1 HG02280.hp1 others(7): Show HG00741.hp1 HG02055.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG03195.hp1 HG03209.hp2 HG06807.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0011 a0009c0021	a0001c0001t0001 a0001c0002t0002 a0001c0003t0006 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0006 a0001c0004t0003 a0001c0006t0002 a0002c0011t0006 a0009c0021t0019	a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0002t0002g0371 others(7): Show a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0002t0002g0371 a0001c0002t0002g0372 a0001c0003t0006g0368 a0001c0003t0006g0369 a0001c0004t0003g0366 a0001c0006t0002g0203 a0002c0011t0006g0370 a0009c0021t0019g0367	10	385	0.0260	-100	c.-49 others(111): Show c.-4968_-4869delATACAGTATAATATATACTGTATAGTATATCATA TACAGTATAATATATACTGTATAGTATATCATATACAGTATAATATATAC TGTATAGTATATTATA	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4831		chr20	TogoVar
SLC20A2_chr8_42411475_42506231	42451796	GGAGGAAG others(93): Show GGAGGAAGAGATGGAGGAGGAGAAGGAAGAGATGAGGAGGAGAAGGAAGA GATGAAAGAGGAGGAAAAGATGGAGGAGGAAGAGGAAGAGATGAAGAGGA A	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0116	1	236	0.0042	-100	c.614 others(117): Show c.614-7134_614-7035delTTCCTCTTCATCTCTTCCTCTTCCTCCT CCATCTTTTCCTCCTCTTTCATCTCTTCCTTCTCCTCCTCATCTCTTCCT TCTCCTCCTCCATCTCTTCCTC	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	5/10			chr8	TogoVar
SLC26A4_chr7_107655828_107722809	107680249	CTTATTAT others(93): Show CTTATTATATAATCTTATCTTATTATATAATATAATCTTATCTTATTATA TAATATAATCTTATATTATTATATAATCTTATCTTATTATATAATGTTAT A	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02615.hp1 HG01433.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0100 a0001c0001t0016g0340 a0001c0001t0016g0100 a0001c0001t0016g0340	2	283	0.0071	-100	c.766 others(117): Show c.766-2922_766-2823delATAATCTTATCTTATTATATAATATAAT CTTATATTATTATATAATCTTATCTTATTATATAATGTTATATTATTATA TAATCTTATCTTATTATATAAT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC39A14_chr8_22362278_22427736	22396439	AGAGAGAG others(93): Show AGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGG G	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01099.hp1 HG02486.hp1 others(4): Show HG00597.hp1 HG01099.hp1 HG02486.hp1 HG02738.hp2 HG04199.hp2 NA18747.hp1 NA19060.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0014 a0002c0006 a0003c0001 others(1): Show a0001c0014 a0002c0006 a0003c0001 a0003c0008	a0001c0014t0004 a0002c0006t0007 a0003c0001t0001 others(1): Show a0001c0014t0004 a0002c0006t0007 a0003c0001t0001 a0003c0008t0004	a0001c0014t0004g0251 a0002c0006t0007g0205 a0002c0006t0007g0320 others(4): Show a0001c0014t0004g0251 a0002c0006t0007g0205 a0002c0006t0007g0320 a0003c0001t0001g0107 a0003c0001t0001g0201 a0003c0001t0001g0261 a0003c0008t0004g0281	7	320	0.0219	-100	c.-15 others(117): Show c.-15-8247_-15-8148delGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGGGGGGAGAGAGAG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar

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