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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(443): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	432	0.0023	450	c.77- others(465): Show c.77-2964_77-2963insGTGTTAGCCAGGATGGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCC		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(443): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18991.hp1 NA18978.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0238 a0001c0001t0009g0023 a0001c0001t0001g0238 a0001c0001t0009g0023	2	432	0.0046	450	c.77- others(465): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2122498	C C	CAGCGATA others(443): Show CAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGT GGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCA T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	286	0.0035	450	c.335 others(469): Show c.335-12764_335-12763insAGCGATAGTTAGCGTCATGGTGGTGG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAG CGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGCTGTAGTTAGGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123342	C C	CGGCTGTA others(443): Show CGGCTGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	286	0.0035	450	c.335 others(469): Show c.335-11918_335-11917insCTGTAGTTAGGGTCACGGCGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124371	C C	CTGTAGTT others(443): Show CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAG GTTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT ATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTT GGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCGGT AGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGG T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	286	0.0035	450	c.335 others(469): Show c.335-10891_335-10890insTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATA GTTAGCGTCATGGTGGTAGTTAGGTTCATGGTGGTAGTTAGGGTCACGGT GGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG GTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTG TAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTCATG GTGGTAGTTAGGGTCACGGCGGTAGTTAGCGTCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(443): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGTGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	412	0.0024	450	c.205 others(465): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACACGCCGACCCCTCCTC ACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACTGCCCAGGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACT GCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(443): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01168.hp1 others(5): Show HG00639.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01952.hp2 HG02300.hp2 NA18963.hp1 NA19056.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0059 a0002c0060 others(1): Show a0002c0002 a0002c0059 a0002c0060 a0005c0007	a0002c0002t0001 a0002c0059t0001 a0002c0060t0001 others(1): Show a0002c0002t0001 a0002c0059t0001 a0002c0060t0001 a0005c0007t0001	a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0059t0001g0204 others(2): Show a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0059t0001g0204 a0002c0060t0001g0205 a0005c0007t0001g0049	8	412	0.0194	450	c.205 others(465): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACT GCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(443): Show GAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0147 a0004c0006t0001g0147	1	412	0.0024	450	c.205 others(465): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAG GCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCC CACTGCCCACGCCGACCCCT		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(443): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTAATATATATATATATATATATTAATATA TATATATATATTAATAATATATATATTAATATATATATTATTATATATAA TAATATATATATTAATTAATATATATATTAAAATATAATATATATATTAT ATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTAAAT TATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATATAT ATTTTTAATATATATATTTTTAAATATATATATATTTATATATATATTTT TAAATATATATATATATTTATATATATATTTTTAAATATATATATATATT T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	408	0.0025	450	c.182 others(467): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTAATATATATATATATATATATT AATATATATATATATATTAATAATATATATATTAATATATATATTATTAT ATATAATAATATATATATTAATTAATATATATATTAAAATATAATATATA TATTATATATATTAAATTATATATATTAAAATATGTATATTAATATATAT TTAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAAT ATATATATTTTTAATATATATATTTTTAAATATATATATATTTATATATA TATTTTTAAATATATATATATATTTATATATATATTTTTAAATATATATA TATATTTATATATATATTTAAA		RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF223_chr1_1065967_1079306	1076341	G G	GGGGGGAG others(443): Show GGGGGGAGGCTGAGGCTACGGGGACTCCGTAGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGT GCGGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	450	c.-23 others(461): Show c.-2336_-2335insGACGGAGTCCCCATAGCCTCAGCCTCCCCCCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGAGTCCCCAT AGACTCAGCCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACG GAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGT AGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACG GAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCTACGGAGTCCCCGT AGCCTCAGCCTCCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2036		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076880	G G	GGGGGAGG others(443): Show GGGGGAGGCTGAGTCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGG GGACTCCGTGCGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCT GAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGG GGACTCCATGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTATGG GGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	324	0.0031	450	c.-28 others(461): Show c.-2875_-2874insGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCA TAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGC CTCCCCCCATGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCA TAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCACCCCGCAC GGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGC CACCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCCG TAGACTCAGCCTCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2575		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077191	A A	AGGCTATG others(443): Show AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCATCG GGGGAGGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGG CGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0009 a0002c0002t0003g0009	1	324	0.0031	450	c.-31 others(461): Show c.-3186_-3185insACAGCCACCCCGCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCC ATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAG CCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCC CTAGCCTCAGCCTCCCCCGATGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2886		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078865	A A	AGGCTGAG others(443): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCTGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	450	c.-48 others(461): Show c.-4860_-4859insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC GGCACAGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4560		chr1	TogoVar
RPA3_chr7_7631518_7723607	7679038	T T	TATAAATA others(443): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	308	0.0033	450	c.-75 others(469): Show c.-758+6791_-758+6792insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATA TATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTA TAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATAAATATATATTTAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(443): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01952.hp2 HG02040.hp2 others(2): Show HG00280.hp1 HG01952.hp2 HG02040.hp2 HG03927.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0141 a0001c0001t0001g0248 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0141 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0003g0173	5	308	0.0162	450	c.-75 others(469): Show c.-758+6764_-758+6765insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATA TATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTA TAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATAAATATATATTTAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(443): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01993.hp1 HG01975.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0127 a0001c0001t0013g0137 a0001c0001t0013g0127 a0001c0001t0013g0137	2	308	0.0065	450	c.-75 others(469): Show c.-758+6764_-758+6765insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTA TAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATAAATATATATTTAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPEL1_chr10_103240887_103253016	103251100	A A	ACCACCAT others(443): Show ACCACCATCATCACCTCCACCACAACCACCATCACCACCACCACCTGCAC CACCATCACCACCTCCACCACCATCACCACCACCTCCACCACTATCACCA CCTCCACCACCACCACCACCACCATCACCACCTCCACCACCATCACCACC TCCACCACCTCCACCACCATCACCACCTCCACCACTACCATCACCACCAC CAACACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCA CCACCACCACCACCACCACCTCCACCACCATCACCACCTCCACCACCATC ACCACCTCCACCACCATCACCACCTCCACTACCATCACCACCTCCACCAC CACCACCATCACCATCACCACCACCACCACCTCCACCACCATCATCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCATCACC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	375	0.0027	450	c.44 others(461): Show c.4417_*4418insCCACCATCATCACCTCCACCACAACCACCATCAC CACCACCACCTGCACCACCATCACCACCTCCACCACCATCACCACCACCT CCACCACTATCACCACCTCCACCACCACCACCACCACCATCACCACCTCC ACCACCATCACCACCTCCACCACCTCCACCACCATCACCACCTCCACCAC TACCATCACCACCACCAACACCACCACCATCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCTCCACCACCATCACC ACCTCCACCACCATCACCACCTCCACCACCATCACCACCTCCACTACCAT CACCACCTCCACCACCACCACCATCACCATCACCACCACCACCACCTCCA CCACCATCATCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCATCACCT		RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding					3085		chr10	TogoVar
RPH3AL_chr17_207389_357807	288219	T T	TCTCTCCA others(443): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC GCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCA CCGTCAGACCTCACACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACAC C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	450	c.352 others(467): Show c.352-6366_352-6365insGGTGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAG AGAGAGGGTGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACG GTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCT GACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAG GTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCG AGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTG CGAGGTCTGACGGTGGAGAGAGCGTGCGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744325	C C	CCCTGGTT others(443): Show CCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTAC TAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTA GCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0032 a0001c0074t0032	a0001c0074t0032g0061 a0001c0074t0032g0061	1	196	0.0051	450	c.655 others(467): Show c.655-9680_655-9679insTTACTAGCAGAGCCCTGGCTACTAGCAC TATCCTGGTTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTA GCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGG CTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744325	C C	CCCTGGTT others(443): Show CCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTAC TAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGG CTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTA GCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03834.hp1 NA19066.hp1 HG01361.hp1 HG03834.hp1 NA19066.hp1	a0001 a0001	a0001c0015 a0001c0084 a0001c0097 a0001c0015 a0001c0084 a0001c0097	a0001c0015t0008 a0001c0084t0059 a0001c0097t0001 a0001c0015t0008 a0001c0084t0059 a0001c0097t0001	a0001c0015t0008g0139 a0001c0084t0059g0165 a0001c0097t0001g0157 a0001c0015t0008g0139 a0001c0084t0059g0165 a0001c0097t0001g0157	3	196	0.0153	450	c.655 others(467): Show c.655-9680_655-9679insTTACTAGCAGAGCCCTGGCTACTAGCAC TATCCTGGTTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTA GCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTT ACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGG CTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744536	C C	CACTGTCC others(443): Show CACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTA CTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT CCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGTA CAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACT AGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGT TACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCC TGGCTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACT ATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAG T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01978.hp1 HG01361.hp1 HG01978.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0015t0008g0139 a0001c0015t0008g0146	2	196	0.0102	450	c.655 others(467): Show c.655-9472_655-9471insTGTCCTGGTTACTAGCACAGCCCTGGTT GCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744601	T T	TTACGAGC others(443): Show TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	196	0.0051	450	c.655 others(467): Show c.655-9406_655-9405insGAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744613	C C	CCCTGGCT others(443): Show CCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0170 a0001c0022t0001g0170	1	196	0.0051	450	c.655 others(467): Show c.655-9392_655-9391insCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAG CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744619	T T	TTGCTAGC others(443): Show TTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTA TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG C	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0097 a0001c0097	a0001c0097t0001 a0001c0097t0001	a0001c0097t0001g0157 a0001c0097t0001g0157	1	196	0.0051	450	c.655 others(467): Show c.655-9390_655-9389insGCTAGCACTGTCCTGGTTACTAGCAGAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744677	T T	TAGCACTA others(443): Show TAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGTACAGCC CTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGTACAG CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTAC G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0132 a0001c0022t0001g0132	1	196	0.0051	450	c.655 others(467): Show c.655-9328_655-9327insTATCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGCTACTAGTACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTATCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTA GCACTGTCCTGGTTACGAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01346.hp1 HG01346.hp1	a0038 a0038	a0038c0057 a0038c0057	a0038c0057t0001 a0038c0057t0001	a0038c0057t0001g0313 a0038c0057t0001g0313	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaPro AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp1 HG00733.hp1 HG00741.hp1 others(13): Show HG00438.hp1 HG00733.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp2 HG01346.hp2 HG02148.hp2 HG02735.hp1 HG03688.hp2 HG03831.hp2 NA18959.hp2 NA18994.hp2 NA19005.hp2 NA19090.hp1 NA20805.hp2 NA20905.hp2	a0007 a0008 a0046 a0007 a0008 a0046	a0007c0007 a0007c0055 a0008c0028 others(4): Show a0007c0007 a0007c0055 a0008c0028 a0008c0029 a0008c0030 a0008c0056 a0046c0046	a0007c0007t0001 a0007c0055t0001 a0008c0028t0002 others(4): Show a0007c0007t0001 a0007c0055t0001 a0008c0028t0002 a0008c0029t0003 a0008c0030t0002 a0008c0056t0001 a0046c0046t0001	a0007c0007t0001g0304 a0007c0007t0001g0306 a0007c0007t0001g0310 others(13): Show a0007c0007t0001g0304 a0007c0007t0001g0306 a0007c0007t0001g0310 a0007c0007t0001g0312 a0007c0007t0001g0316 a0007c0007t0001g0318 a0007c0007t0001g0320 a0007c0055t0001g0305 a0008c0028t0002g0308 a0008c0028t0002g0311 a0008c0029t0003g0314 a0008c0029t0003g0317 a0008c0030t0002g0307 a0008c0030t0002g0309 a0008c0056t0001g0319 a0046c0046t0001g0315	16	350	0.0457	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02886.hp2 HG02886.hp2	a0053 a0053	a0053c0081 a0053c0081	a0053c0081t0002 a0053c0081t0002	a0053c0081t0002g0303 a0053c0081t0002g0303	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp2 HG02486.hp2	a0050 a0050	a0050c0070 a0050c0070	a0050c0070t0002 a0050c0070t0002	a0050c0070t0002g0322 a0050c0070t0002g0322	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0030 a0030	a0030c0058 a0030c0059 a0030c0058 a0030c0059	a0030c0058t0006 a0030c0059t0006 a0030c0058t0006 a0030c0059t0006	a0030c0058t0006g0017 a0030c0059t0006g0018 a0030c0058t0006g0017 a0030c0059t0006g0018	2	350	0.0057	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19074.hp2 NA19074.hp2	a0069 a0069	a0069c0112 a0069c0112	a0069c0112t0001 a0069c0112t0001	a0069c0112t0001g0234 a0069c0112t0001g0234	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAGGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyArgLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTTGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp2 HG02257.hp2	a0048 a0048	a0048c0124 a0048c0124	a0048c0124t0002 a0048c0124t0002	a0048c0124t0002g0292 a0048c0124t0002g0292	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCAAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03239.hp2 HG03239.hp2	a0060 a0060	a0060c0111 a0060c0111	a0060c0111t0001 a0060c0111t0001	a0060c0111t0001g0134 a0060c0111t0001g0134	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAGGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyArgLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp1 NA19043.hp1	a0067 a0067	a0067c0115 a0067c0115	a0067c0115t0002 a0067c0115t0002	a0067c0115t0002g0052 a0067c0115t0002g0052	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaPro AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02622.hp1 HG02622.hp1	a0051 a0051	a0051c0084 a0051c0084	a0051c0084t0002 a0051c0084t0002	a0051c0084t0002g0054 a0051c0084t0002g0054	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaPro AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(13): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01081.hp2 HG01123.hp1 HG01256.hp2 HG01934.hp2 HG03654.hp1 HG03704.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1	a0004 a0023 a0004 a0023	a0004c0006 a0004c0013 a0023c0036 a0004c0006 a0004c0013 a0023c0036	a0004c0006t0001 a0004c0013t0001 a0023c0036t0003 a0004c0006t0001 a0004c0013t0001 a0023c0036t0003	a0004c0006t0001g0063 a0004c0006t0001g0092 a0004c0006t0001g0094 others(12): Show a0004c0006t0001g0063 a0004c0006t0001g0092 a0004c0006t0001g0094 a0004c0006t0001g0095 a0004c0006t0001g0096 a0004c0006t0001g0097 a0004c0006t0001g0128 a0004c0006t0001g0137 a0004c0013t0001g0005 a0004c0013t0001g0099 a0004c0013t0001g0118 a0004c0013t0001g0122 a0004c0013t0001g0123 a0023c0036t0003g0093 a0023c0036t0003g0098	16	350	0.0457	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00621.hp1 HG00621.hp1	a0034 a0034	a0034c0117 a0034c0117	a0034c0117t0002 a0034c0117t0002	a0034c0117t0002g0115 a0034c0117t0002g0115	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG02922.hp2 HG02965.hp1 others(3): Show HG01884.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03516.hp1 NA19030.hp1	a0022 a0028 a0056 a0022 a0028 a0056	a0022c0072 a0022c0074 a0022c0075 others(3): Show a0022c0072 a0022c0074 a0022c0075 a0028c0047 a0028c0048 a0056c0073	a0022c0072t0002 a0022c0074t0002 a0022c0075t0002 others(3): Show a0022c0072t0002 a0022c0074t0002 a0022c0075t0002 a0028c0047t0002 a0028c0048t0002 a0056c0073t0002	a0022c0072t0002g0281 a0022c0074t0002g0289 a0022c0075t0002g0279 others(3): Show a0022c0072t0002g0281 a0022c0074t0002g0289 a0022c0075t0002g0279 a0028c0047t0002g0273 a0028c0048t0002g0274 a0056c0073t0002g0280	6	350	0.0171	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0071 a0071	a0071c0085 a0071c0085	a0071c0085t0001 a0071c0085t0001	a0071c0085t0001g0200 a0071c0085t0001g0200	1	350	0.0029	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(443): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG TCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG01891.hp1 HG02280.hp2 others(3): Show HG01109.hp1 HG01891.hp1 HG02280.hp2 HG03139.hp2 HG03486.hp1 NA18906.hp1	a0013 a0013	a0013c0031 a0013c0032 a0013c0060 others(1): Show a0013c0031 a0013c0032 a0013c0060 a0013c0061	a0013c0031t0001 a0013c0032t0002 a0013c0060t0002 others(1): Show a0013c0031t0001 a0013c0032t0002 a0013c0060t0002 a0013c0061t0002	a0013c0031t0001g0012 a0013c0032t0002g0275 a0013c0032t0002g0278 others(2): Show a0013c0031t0001g0012 a0013c0032t0002g0275 a0013c0032t0002g0278 a0013c0060t0002g0276 a0013c0061t0002g0277	6	350	0.0171	450	c.129 others(459): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGC	p.Ala others(463): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659365	C C	CTTCTTGC others(443): Show CTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGG TCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCC TGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGC CTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGG CCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCC TGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGC CTTCTTGCCCTGGTTCTGGGCCCCCTCTGCCTTCTTGCCCTGGTTCTGGG CCCCCTCGGCCTTTTTGCCCTGATTCTGGGCCCCCTCGGCCTTTTTGCCC TGGTTCTGGGCACCCTCAGCCTTCTTGCCCTGGTTCTGGGCCCCTTCTAC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00609.hp1 HG01081.hp1 others(21): Show HG00408.hp1 HG00609.hp1 HG01081.hp1 HG01192.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp2 NA18953.hp1 NA18977.hp2 NA18984.hp1 NA18994.hp1 NA19010.hp1 NA19064.hp2 NA19080.hp1 NA19088.hp2 NA20300.hp1	a0003 a0027 a0003 a0027	a0003c0003 a0003c0018 a0003c0126 others(2): Show a0003c0003 a0003c0018 a0003c0126 a0003c0127 a0027c0039	a0003c0003t0003 a0003c0003t0010 a0003c0018t0002 others(3): Show a0003c0003t0003 a0003c0003t0010 a0003c0018t0002 a0003c0126t0003 a0003c0127t0001 a0027c0039t0001	a0003c0003t0003g0001 a0003c0003t0003g0029 a0003c0003t0003g0031 others(17): Show a0003c0003t0003g0001 a0003c0003t0003g0029 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0043 a0003c0003t0003g0283 a0003c0003t0010g0027 a0003c0018t0002g0039 a0003c0018t0002g0041 a0003c0018t0002g0042 a0003c0018t0002g0045 a0003c0126t0003g0030 a0003c0127t0001g0038 a0027c0039t0001g0040 a0027c0039t0001g0044	24	350	0.0686	450	c.114 others(459): Show c.1142_1143insAGTAGAAGGGGCCCAGAACCAGGGCAAGAAGGCTGA GGGTGCCCAGAACCAGGGCAAAAAGGCCGAGGGGGCCCAGAATCAGGGCA AAAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCAGAGGGGGCCCAG AACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGACAAGAAGGCCGA GGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCA AGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAG AACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGA GGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCA AGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCG AACCAGGGCAAGAA	p.Lys others(463): Show p.Lys381_Ala382insValGluGlyAlaGlnAsnGlnGlyLysLysAl aGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnG lyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAla GlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnAspLysLysAl aGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnG lyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAla GlnAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAl aGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnG lyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThr ProAsnGlnGlyLysLys	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1455/5049	1142/4233	381/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659365	C C	CTTCTTGC others(443): Show CTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGG TCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCC TGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGC CTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGG CCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCC TGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGC CTTCTTGCCCTGGTTCTGGGCCCCCTCTGCCTTCTTGCCCTGGTTCTGGG CCCCCTCGGCCTTTTTGCCCTGATTCTGGGCCCCCTCGGCCTTTTTGCCC TGGTTCTGGGCACCCTCAGCCTTCTTGCCCTGGTTCTGGGCCCCTTCTAC T	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01261.hp1 HG01261.hp1	a0037 a0037	a0037c0125 a0037c0125	a0037c0125t0003 a0037c0125t0003	a0037c0125t0003g0028 a0037c0125t0003g0028	1	350	0.0029	450	c.114 others(459): Show c.1142_1143insAGTAGAAGGGGCCCAGAACCAGGGCAAGAAGGCTGA GGGTGCCCAGAACCAGGGCAAAAAGGCCGAGGGGGCCCAGAATCAGGGCA AAAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCAGAGGGGGCCCAG AACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGACAAGAAGGCCGA GGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCA AGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAG AACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGA GGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCA AGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCG AACCAGGGCAAGAA	p.Lys others(463): Show p.Lys381_Ala382insValGluGlyAlaGlnAsnGlnGlyLysLysAl aGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnG lyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAla GlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnAspLysLysAl aGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnG lyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAla GlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAl aGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnG lyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThr ProAsnGlnGlyLysLys	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1455/5049	1142/4233	381/1410			chr20	TogoVar
RSPH10B_chr7_5921136_5975689	5930763	C C	CGTACACA others(443): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCAAGA TGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCA GCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTG AGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTAC ACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCC CAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCC TAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAA AGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCA T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0004 a0006c0006t0001g0004	1	70	0.0143	450	c.223 others(469): Show c.2233+2018_2233+2019insATGCTCACCTTTGCTGCTAGGTATCT TGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGTATCTTGGGGGGCT GTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATG CTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATGCTCACCTTT GCTGCTAGGTATCTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGG CATCTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGG GGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGT ACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGCTGTGTACATGCTCAC CTTTGCTGCTAGGTATCTTGGGGGGCTGTGTACATGTACACCTTTGCTGC TAGGCATCTTGGTGGGCTGTGTAC		RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20						chr7	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(443): Show TATAATATATAATATATATTATATATAATATATTATATATATAATATATA TTATATATTATATATAATATATAATATATATTATATATTATATATAATAT ATAATATATATTATATATAATATATATTATATGTTATATATAATATATAA ATATATATTATATATAATATATAAATATATATTATATATAATATATATTA TATATAATATATAATATATATTATATATTATATATAATATATATTATATA TAATATATATTATATATTATATATTATATATAATATATAAATATATTATA TATAATATATAATATATAATATATATATATTATATATAATATATAAATAT ATATTATATATTATATATAATATATAATATATTATATATATATTTAATAT ATATTTTATATATAAATATATATTATATATATTTAATATATATTTTATAT A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	188	0.0053	450	c.193 others(469): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATATTTATATATAAAATATATATTAAATATATATATAATATATT ATATATTATATATAATATATAATATATATTTATATATTATATATAATATA TATATATTATATATTATATATTATATATAATATATTTATATATTATATAT AATATATAATATATAATATATATTATATATAATATATATTATATATAATA TATAATATATATTATATATTATATATAATATATATTATATATAATATATA TTTATATATTATATATAATATATATTTATATATTATATATAACATATAAT ATATATTATATATAATATATATTATATATTATATATAATATATAATATAT ATTATATATTATATATAATATATAATATATATTATATATATAATATATTA TATATAATATATATTATATATTAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3						chr8	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(443): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA TAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0309 a0002c0002t0001g0309	1	376	0.0027	450	c.101 others(469): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431787	T T	TAGGGTGG others(443): Show TAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGATAGGATGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGTCAGGGTGGATAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGACAG GGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGA C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	376	0.0027	450	c.101 others(469): Show c.1014-1173_1014-1172insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGATGGTTAGGGTGGAGAGGGTGGAGAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTCAGGGTGGA TAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGA GGGTGGATAGGGTGGACAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431895	T T	TAGGGTGG others(443): Show TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAG AGGGTGGATAGGGTGGTGAGGGTGGACAGGGTGGAGAGGGTGGACAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACA GGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGG AGAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGA C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0197 a0001c0004t0003g0197	1	376	0.0027	450	c.101 others(469): Show c.1014-1064_1014-1063insCAGGGTGGACAGGGTGGACAGGGTGG AGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGG GTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTGAGGGTGGACAGGGTGGA GAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGTTAG GGTGGACAGGGTGGACAGGGTGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432007	G G	GTGGTTAG others(443): Show GTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGT TAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGA TGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGG A	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0179 a0001c0004t0003g0179	1	376	0.0027	450	c.101 others(467): Show c.1014-957_1014-956insTTAGGGTGGTTAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGAT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGATAGGATGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432129	T T	TAGGGTGG others(443): Show TAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAG GGTGGACAGGGTGGAGAGAGTGGACAGGGTGGAGAGGGTGGAGAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGA G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0053 a0001c0003t0002g0053	1	376	0.0027	450	c.101 others(467): Show c.1014-830_1014-829insTAGGGTGGATAGGGTGGAGAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGG TTAGGGTGGACAGGGTGGACAGGGTGGAGAGAGTGGACAGGGTGGAGAGG GTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGAGAGGGTGGAGAGGGTGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1739952	C C	CAGGGAGT others(443): Show CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC CGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02155.hp2 HG02027.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0068 a0002c0002t0001g0009 a0002c0002t0001g0068	2	445	0.0045	450	c.-29 others(461): Show c.-2961_-2960insAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGT		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					2918		chr17	TogoVar

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