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
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(473): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0141 a0002c0005t0001g0141	1	221	0.0045	480	c.205 others(495): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCG ACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACT GCCCACGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513830	T T	TGAGGAGG others(473): Show TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0178 a0004c0008t0001g0178	1	235	0.0043	480	c.205 others(495): Show c.2058+97_2058+98insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCACAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(473): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18522.hp2 HG03017.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0248 a0001c0001t0001g0197 a0001c0001t0001g0248	2	82	0.0244	480	c.132 others(497): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RFX2_chr19_5988164_6115500	6069986	T T	TGGATGGG others(473): Show TGGATGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGG ATGGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATG GGATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGA TGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAG AATCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGAT GTGGATGGGGTGGGATGGGATGGGATGTGGATGGGATGGAATGGGATGTG GATGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGT GGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGG ATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGAT AGAGTGGGATGGGATGGGATGGGATGGGATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp1 HG01167.hp2 others(37): Show HG00140.hp2 HG01123.hp1 HG01167.hp2 HG01256.hp1 HG01358.hp1 HG01515.hp2 HG01884.hp1 HG01943.hp1 HG02004.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02970.hp1 HG03041.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18944.hp2 NA18974.hp1 NA19000.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0007c0014t0001 a0001c0001t0001 a0001c0001t0002 a0007c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0032 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0284 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0187 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0298 a0007c0014t0001g0173	40	89	0.4494	480	c.-8- others(497): Show c.-8-22483_-8-22482insCATCCCATCCCATCCCATCCCATCCCAC TCTATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCA CATCCCATCCTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCAT CCCACCCCATCCACATCCCGTTCCACCCCATCCACATCCCATCACATCCC ATCCACATCCCATTCCATCCCATCCACATCCCATCCCATCCCACCCCATC CACATCCCATCCCACCCCATTCACATCCCATTCCACCCCATTCACATCCG ATTCTATCCCATCCACATCCCATTCCATCCCATCCACATCCCATTCCATC CCATCCACATCCCATCCCATCCCATCCACATCCCATCCCACCCCATCATA TCCCATTCCACCCCATTCACATCCGATTCTATCCCATCCACATCCCATTC CATCCCATCCACATCCCATTCCATCCCATCCACATCCCATTCCATCCCAT CC		RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17						chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130646430	T T	TCCACCTC others(473): Show TCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCAC CACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCA CCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACC TGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTC CCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCGCCACCTCCC TCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCCTC ACCACCTCCCTCACCACCTCCCTCTCCACCTGCCTCTCCACCTCCCTCAC CACTTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTGCCTCTCCA CCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACC TGCCTCATCACCTCCCTCACCACCTCCCTCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	90	0.0111	480	c.-35 others(501): Show c.-351-17975_-351-17974insCGAGGGAGGTGGTGAGGGAGGTGA TGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTG AGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAG GGAAGTGGTGAGGGAGGTGGAGAGGCAGGTGGAGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAG GTGGTGAGGGAGGTGGCGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGT GGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAG AGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAG GGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGG AGGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(473): Show AATATATATATATATTTAAATATATATATAAAAATATATATATAAATATA TATATATTTAAAAATATATATATTAAAAATATATATATTTAAATATATAT ATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAATAT ACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATAAAT ATATATTTAAATATTTAAATATATTTAAATATATATTTATATATATTTAA AGATATATATTAAATTATATATATTAAATATACATATTTATATGTATACA TTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATACA TATTTTAAAATATATATATTTAAATATATATATTTTTAATATATATATTT TTAAATATATATATATTTATATATATATTTTTATATATATATTTAAATAT ATATATATATTTTTAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	6	0.1667	480	c.182 others(497): Show c.182-2708_182-2707insATATTTAAATATATATATAAAAATATAT ATATAAATATATATATATTTAAAAATATATATATTAAAAATATATATATT TAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATA TATATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAA TATATATAAATATATATTTAAATATTTAAATATATTTAAATATATATTTA TATATATTTAAAGATATATATTAAATTATATATATTAAATATACATATTT ATATGTATACATTAAAATATGTATATTAATATATATTTAAATTATATAAT TTAAATATACATATTTTAAAATATATATATTTAAATATATATATTTTTAA TATATATATTTTTAAATATATATATATTTATATATATATTTTTATATATA TATTTAAATATATATATATATTTTTAATATATATATATATTTATATATAT AT		RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF223_chr1_1065967_1079306	1076606	C C	CGTGCGGG others(473): Show CGTGCGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGAGTCTATGGGGACTCCGTGCCGGGA GGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTC CATGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTC CGTGCCGGGAGGCTGAGGCTATGGGGACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	480	c.-26 others(491): Show c.-2601_-2600insAGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCC CCGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCGACGGAG TCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCGCAC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2301		chr1	TogoVar
RNF44_chr5_176521712_176542402	176530432	A A	AGGCCTGC others(473): Show AGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCAG GCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCAGGC CTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCAGCAGGCCT GCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCAGGCCTGC CTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCAGGCCTGCCT CCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCAGGCCTGCCTCC CAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCAGGCCTGCCTCCCA GCCGCCCCGGAGCCCACGTGCAAGTCAGCCCAGCAGGCCTGCCTCCCAGC CGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCAGGCCTGCCTCCCAGCCG CCCCGGAGCCCACGTGCAAGTCAGCCCGGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0156 a0001c0001t0036g0156	1	409	0.0024	480	c.801 others(495): Show c.801+149_801+150insCACCGGGCTGACTTGCACGTGGGCTCCGGG GCGGCTGGGAGGCAGGCCTGCTGGGCTGACTTGCACCTGGGCTCCGGGGC GGCTGGGAGGCAGGCCTGCTGGGCTGACTTGCACGTGGGCTCCGGGGCGG CTGGGAGGCAGGCCTGCTGGGCTGACTTGCACCTGGGCTCCGGGGCGGCT GGGAGGCAGGCCTGCTGGGCTGACTTGCACCTGGGCTCCGGGGCGGCTGG GAGGCAGGCCTGCTGGGCTGACTTGCACCTGGGCTCCGGGGCGGCTGGGA GGCAGGCCTGCTGGGCTGACTTGCACCTGGGCTCCGGGGCGGCTGGGAGG CAGGCCTGCTGGGCTGACTTGCACGTGGGCTCCGGGGCGGCTGGGAGGCA GGCCTGCTGGGCTGACTTGCACCTGGGCTCCGGGGCGGCTGGGAGGCAGG CCTGCTGGGCTGACTTGCACCTGGGCTCCGGGGCGGCTGGGAGGCAGGCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RRBP1_chr20_17608679_17687242	17659162	C C	CCCTGGTT others(473): Show CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19091.hp2 NA19091.hp2	a0015 a0015	a0015c0119 a0015c0119	a0015c0119t0003 a0015c0119t0003	a0015c0119t0003g0107 a0015c0119t0003g0107	1	345	0.0029	480	c.134 others(489): Show c.1345_1346insACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGG	p.Gln others(493): Show p.Gln448_Gly449insAspLysLysAlaGluGlyAlaGlnAsnGlnGl yArgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaG lnAsnGlnGlyArgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla GluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGl yLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrP roAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAla GluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGl yLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaG lnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla GluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGln	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1658/5049	1345/4233	449/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659162	C C	CCCTGGTT others(473): Show CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18944.hp1 NA18997.hp1 NA18944.hp1 NA18997.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0003 a0001c0038t0003	a0001c0038t0003g0105 a0001c0038t0003g0106 a0001c0038t0003g0105 a0001c0038t0003g0106	2	346	0.0058	480	c.134 others(489): Show c.1345_1346insACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGG	p.Gln others(493): Show p.Gln448_Gly449insAspLysLysAlaGluGlyAlaGlnAsnGlnGl yArgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaG lnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla GluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGl yLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrP roAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAla GluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGl yLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaG lnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla GluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGln	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1658/5049	1345/4233	449/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(473): Show GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0049 a0049	a0049c0103 a0049c0103	a0049c0103t0002 a0049c0103t0002	a0049c0103t0002g0250 a0049c0103t0002g0250	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01123.hp2 HG01123.hp2	a0035 a0035	a0035c0054 a0035c0054	a0035c0054t0003 a0035c0054t0003	a0035c0054t0003g0321 a0035c0054t0003g0321	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0001 a0002c0097t0001	a0002c0097t0001g0174 a0002c0097t0001g0174	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01516.hp1 HG01516.hp1	a0039 a0039	a0039c0105 a0039c0105	a0039c0105t0003 a0039c0105t0003	a0039c0105t0003g0102 a0039c0105t0003g0102	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyArgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp1 HG02630.hp2 HG02809.hp2 others(1): Show HG02559.hp1 HG02630.hp2 HG02809.hp2 HG02922.hp1	a0019 a0019	a0019c0077 a0019c0078 a0019c0079 others(1): Show a0019c0077 a0019c0078 a0019c0079 a0019c0080	a0019c0077t0002 a0019c0078t0002 a0019c0079t0002 others(1): Show a0019c0077t0002 a0019c0078t0002 a0019c0079t0002 a0019c0080t0002	a0019c0077t0002g0299 a0019c0078t0002g0300 a0019c0079t0002g0301 others(1): Show a0019c0077t0002g0299 a0019c0078t0002g0300 a0019c0079t0002g0301 a0019c0080t0002g0302	4	38	0.1053	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18959.hp1 NA18981.hp2 NA19078.hp1 others(1): Show NA18959.hp1 NA18981.hp2 NA19078.hp1 NA19081.hp1	a0031 a0032 a0031 a0032	a0031c0035 a0032c0100 a0032c0101 a0031c0035 a0032c0100 a0032c0101	a0031c0035t0003 a0032c0100t0001 a0032c0101t0003 a0031c0035t0003 a0032c0100t0001 a0032c0101t0003	a0031c0035t0003g0092 a0031c0035t0003g0131 a0032c0100t0001g0132 others(1): Show a0031c0035t0003g0092 a0031c0035t0003g0131 a0032c0100t0001g0132 a0032c0101t0003g0091	4	38	0.1053	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp2 HG02109.hp1 HG02145.hp1 others(4): Show HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02896.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1	a0011 a0011	a0011c0010 a0011c0068 a0011c0010 a0011c0068	a0011c0010t0002 a0011c0068t0002 a0011c0010t0002 a0011c0068t0002	a0011c0010t0002g0178 a0011c0010t0002g0179 a0011c0010t0002g0181 others(4): Show a0011c0010t0002g0178 a0011c0010t0002g0179 a0011c0010t0002g0181 a0011c0010t0002g0182 a0011c0010t0002g0259 a0011c0010t0002g0260 a0011c0068t0002g0180	7	41	0.1707	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03195.hp2 HG03195.hp2	a0058 a0058	a0058c0071 a0058c0071	a0058c0071t0013 a0058c0071t0013	a0058c0071t0013g0269 a0058c0071t0013g0269	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18944.hp2 NA18944.hp2	a0063 a0063	a0063c0104 a0063c0104	a0063c0104t0003 a0063c0104t0003	a0063c0104t0003g0153 a0063c0104t0003g0153	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00738.hp2 HG00741.hp2 others(4): Show HG00099.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG03669.hp1 NA18962.hp2	a0014 a0015 a0014 a0015	a0014c0037 a0014c0109 a0014c0110 others(1): Show a0014c0037 a0014c0109 a0014c0110 a0015c0026	a0014c0037t0001 a0014c0109t0001 a0014c0110t0001 others(2): Show a0014c0037t0001 a0014c0109t0001 a0014c0110t0001 a0015c0026t0002 a0015c0026t0003	a0014c0037t0001g0120 a0014c0037t0001g0157 a0014c0109t0001g0262 others(3): Show a0014c0037t0001g0120 a0014c0037t0001g0157 a0014c0109t0001g0262 a0014c0110t0001g0233 a0015c0026t0002g0009 a0015c0026t0003g0103	7	41	0.1707	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyArgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(141): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0041 others(5): Show a0001 a0002 a0041 a0045 a0047 a0061 a0064 a0065	a0001c0002 a0001c0004 a0001c0012 others(18): Show a0001c0002 a0001c0004 a0001c0012 a0001c0023 a0001c0024 a0001c0025 a0001c0091 a0001c0093 a0001c0096 a0002c0001 a0002c0052 a0002c0089 a0002c0092 a0002c0094 a0002c0095 a0041c0050 a0045c0049 a0047c0045 a0061c0090 a0064c0123 a0065c0043	a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 a0001c0002t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0012 a0001c0004t0017 a0001c0012t0005 a0001c0023t0003 a0001c0024t0002 a0001c0025t0003 a0001c0091t0003 a0001c0093t0003 a0001c0096t0003 a0002c0001t0001 a0002c0001t0009 a0002c0052t0001 a0002c0089t0001 a0002c0092t0001 a0002c0094t0001 a0002c0095t0001 a0041c0050t0003 a0045c0049t0003 a0047c0045t0001 a0061c0090t0002 a0064c0123t0001 a0065c0043t0003	a0001c0002t0001g0024 a0001c0002t0001g0075 a0001c0002t0001g0122 others(136): Show a0001c0002t0001g0024 a0001c0002t0001g0075 a0001c0002t0001g0122 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0025 a0001c0002t0003g0058 a0001c0002t0003g0066 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0078 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0113 a0001c0002t0003g0115 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0121 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0130 a0001c0002t0003g0134 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0151 a0001c0002t0003g0154 a0001c0002t0003g0183 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0190 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0226 a0001c0002t0003g0245 a0001c0002t0003g0258 a0001c0002t0003g0274 a0001c0002t0014g0076 a0001c0002t0015g0170 a0001c0004t0001g0026 a0001c0004t0001g0080 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0218 a0001c0004t0001g0220 a0001c0004t0002g0212 a0001c0004t0002g0244 a0001c0004t0003g0090 a0001c0004t0005g0173 a0001c0004t0012g0213 a0001c0004t0017g0331 a0001c0012t0005g0006 a0001c0012t0005g0150 a0001c0012t0005g0168 a0001c0012t0005g0169 a0001c0012t0005g0171 a0001c0023t0003g0114 a0001c0023t0003g0140 a0001c0023t0003g0175 a0001c0024t0002g0205 a0001c0024t0002g0211 a0001c0024t0002g0261 a0001c0025t0003g0225 a0001c0025t0003g0230 a0001c0025t0003g0271 a0001c0091t0003g0185 a0001c0093t0003g0193 a0001c0096t0003g0239 a0002c0001t0001g0002 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0023 a0002c0001t0001g0059 a0002c0001t0001g0061 a0002c0001t0001g0065 a0002c0001t0001g0077 a0002c0001t0001g0079 a0002c0001t0001g0082 a0002c0001t0001g0112 a0002c0001t0001g0133 a0002c0001t0001g0139 a0002c0001t0001g0141 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0172 a0002c0001t0001g0184 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0217 a0002c0001t0001g0219 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0246 a0002c0001t0001g0268 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0295 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0009g0016 a0002c0052t0001g0196 a0002c0089t0001g0176 a0002c0092t0001g0158 a0002c0094t0001g0267 a0002c0095t0001g0216 a0041c0050t0003g0195 a0045c0049t0003g0071 a0047c0045t0001g0240 a0061c0090t0002g0019 a0064c0123t0001g0235 a0065c0043t0003g0070	144	178	0.8090	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp1 HG02615.hp1 HG02615.hp2 others(4): Show HG01884.hp1 HG02615.hp1 HG02615.hp2 HG03471.hp1 NA18906.hp2 NA19240.hp1 NA20300.hp2	a0020 a0029 a0040 a0020 a0029 a0040	a0020c0063 a0020c0064 a0020c0065 others(4): Show a0020c0063 a0020c0064 a0020c0065 a0020c0066 a0029c0041 a0029c0042 a0040c0040	a0020c0063t0002 a0020c0064t0002 a0020c0065t0002 others(4): Show a0020c0063t0002 a0020c0064t0002 a0020c0065t0002 a0020c0066t0002 a0029c0041t0002 a0029c0042t0002 a0040c0040t0002	a0020c0063t0002g0165 a0020c0064t0002g0273 a0020c0065t0002g0167 others(4): Show a0020c0063t0002g0165 a0020c0064t0002g0273 a0020c0065t0002g0167 a0020c0066t0002g0266 a0029c0041t0002g0265 a0029c0042t0002g0264 a0040c0040t0002g0263	7	41	0.1707	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2	a0021 a0021	a0021c0022 a0021c0022	a0021c0022t0001 a0021c0022t0001	a0021c0022t0001g0197 a0021c0022t0001g0198 a0021c0022t0001g0199 a0021c0022t0001g0197 a0021c0022t0001g0198 a0021c0022t0001g0199	3	37	0.0811	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03209.hp2 HG03209.hp2	a0059 a0059	a0059c0083 a0059c0083	a0059c0083t0002 a0059c0083t0002	a0059c0083t0002g0290 a0059c0083t0002g0290	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaPro AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTT GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0086 a0002c0086	a0002c0086t0001 a0002c0086t0001	a0002c0086t0001g0241 a0002c0086t0001g0241	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCAAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaLy sGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01256.hp1 HG03704.hp1 HG01256.hp1 HG03704.hp1	a0026 a0026	a0026c0098 a0026c0099 a0026c0098 a0026c0099	a0026c0098t0001 a0026c0099t0001 a0026c0098t0001 a0026c0099t0001	a0026c0098t0001g0231 a0026c0099t0001g0270 a0026c0098t0001g0231 a0026c0099t0001g0270	2	36	0.0556	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02976.hp2 HG02976.hp2	a0057 a0057	a0057c0114 a0057c0114	a0057c0114t0002 a0057c0114t0002	a0057c0114t0002g0056 a0057c0114t0002g0056	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaPro AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01361.hp1 HG02145.hp2 HG02486.hp1 others(9): Show HG01361.hp1 HG02145.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 NA21309.hp2	a0006 a0006	a0006c0005 a0006c0016 a0006c0005 a0006c0016	a0006c0005t0002 a0006c0005t0007 a0006c0016t0002 a0006c0005t0002 a0006c0005t0007 a0006c0016t0002	a0006c0005t0002g0047 a0006c0005t0002g0049 a0006c0005t0002g0050 others(7): Show a0006c0005t0002g0047 a0006c0005t0002g0049 a0006c0005t0002g0050 a0006c0005t0002g0051 a0006c0005t0002g0052 a0006c0005t0002g0054 a0006c0005t0002g0057 a0006c0005t0007g0014 a0006c0016t0002g0004 a0006c0016t0002g0048	12	46	0.2609	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaPro AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTTGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCAGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0113 a0002c0113	a0002c0113t0001 a0002c0113t0001	a0002c0113t0001g0104 a0002c0113t0001g0104	1	35	0.0286	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCTGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCAAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	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(473): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTTGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG02602.hp1 HG03491.hp2 others(1): Show HG00140.hp2 HG02602.hp1 HG03491.hp2 NA20805.hp1	a0002 a0002	a0002c0033 a0002c0034 a0002c0033 a0002c0034	a0002c0033t0001 a0002c0034t0001 a0002c0033t0001 a0002c0034t0001	a0002c0033t0001g0068 a0002c0033t0001g0069 a0002c0034t0001g0060 others(1): Show a0002c0033t0001g0068 a0002c0033t0001g0069 a0002c0034t0001g0060 a0002c0034t0001g0067	4	38	0.1053	480	c.129 others(489): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCAAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659219	T T	TTGCCCTG others(473): Show TTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCC CTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGT TCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTC TTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCC CTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGT TCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTC TTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCC CTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGT TCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTC TTGCCCTGGTTCTGGGCCCCCTCGGCCTTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02080.hp1 HG02080.hp1	a0044 a0044	a0044c0121 a0044c0121	a0044c0121t0001 a0044c0121t0001	a0044c0121t0001g0177 a0044c0121t0001g0177	1	348	0.0029	480	c.128 others(489): Show c.1288_1289insGGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGG CCGAGGGGGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAG GGCAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGC CCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGG CCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAG GGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGAC CCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGG CCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAG GGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGC CCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCA	p.Gly others(493): Show p.Gly429_Lys430insArgLysAlaGluGlyAlaGlnAsnGlnGlyLy sLysAlaGluGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnA snGlnGlyArgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGlu GlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLy sLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProA snGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGlu GlyThrProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLy sLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnA snGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGlu GlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGly	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1601/5049	1288/4233	430/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659242	G G	GGCCTTCT others(473): Show GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02895.hp1 HG02895.hp1	a0054 a0054	a0054c0051 a0054c0051	a0054c0051t0002 a0054c0051t0002	a0054c0051t0002g0255 a0054c0051t0002g0255	1	348	0.0029	480	c.126 others(489): Show c.1265_1266insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGC	p.Ala others(493): Show p.Ala422_Glu423insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1578/5049	1265/4233	422/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659365	C C	CTTCTTGC others(473): Show CTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGG TCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCC TGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGC CTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGG CCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCC TGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGC CTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGG CCCCCTCTGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTTTTGCCC TGATTCTGGGCCCCCTCGGCCTTTTTGCCCTGGTTCTGGGCACCCTCAGC CTTCTTGCCCTGGTTCTGGGCCCCTTCTACT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0001 a0024c0027t0001	a0024c0027t0001g0010 a0024c0027t0001g0010	2	323	0.0062	480	c.114 others(489): Show c.1142_1143insAGTAGAAGGGGCCCAGAACCAGGGCAAGAAGGCTGA GGGTGCCCAGAACCAGGGCAAAAAGGCCGAGGGGGCCCAGAATCAGGGCA AAAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCAGAGGGGGCCCAG AACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGACAAGAAGGCCGA GGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCA AGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAG AACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGA GGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCA AGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCG AACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAA	p.Lys others(493): Show p.Lys381_Ala382insValGluGlyAlaGlnAsnGlnGlyLysLysAl aGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnG lyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAla GlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnAspLysLysAl aGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnG lyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAla GlnAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAl aGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnG lyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThr ProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLys	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1455/5049	1142/4233	381/1410			chr20	TogoVar
RTN1_chr14_59590983_59875776	59750547	T T	TATATATA others(473): Show TATATATATCTATAATATATATAATATATCTATAATATATAATATATCTA TAATATATATATTATATCTATAATATATAATATATCTATAATATATATAT TATATCTATAATATATAATATATCTATAATATATATATTATATCTATAAT ATATATCTATAATATATATATTATATCTATAATATATAATATATCTATAA TATATATATTATATCTATAATATATAATATATCTATAATATATATATTAT ATCTATAATATATAATATATCTATAATATATATATTATATCTATAATATA TAATATATCTATAATATATAATATATCTATAATATATATATTATATATAT AATATATAATATATTATATATATAATATATAATATATTATATATATAATA TATAATATATTATATCTATAATATATTATATGTAATATATATATGTTATA TCTATAATATATATTATATCTATAATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	139	0.0072	480	c.242 others(497): Show c.242-4067_242-4066insTATATATTATAGATATAATATATATTAT AGATATAACATATATATATTACATATAATATATTATAGATATAATATATT ATATATTATATATATAATATATTATATATTATATATATAATATATTATAT ATTATATATATAATATATATATTATAGATATATTATATATTATAGATATA TTATATATTATAGATATAATATATATATTATAGATATATTATATATTATA GATATAATATATATATTATAGATATATTATATATTATAGATATAATATAT ATATTATAGATATATTATATATTATAGATATAATATATATATTATAGATA TATATTATAGATATAATATATATATTATAGATATATTATATATTATAGAT ATAATATATATATTATAGATATATTATATATTATAGATATAATATATATA TTATAGATATATTATATATTATAGATATATTATATATATTATAGATATAT AT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
SATL1_chrX_85087284_85248779	85088050	T T	TTATACAT others(473): Show TTATACATATATGTATAAATACGTATTAATACATATATGTATAAATACGT ATTAATACATATATGTATAAATACATACATATTTATACATATATGTATAC ATACATATTTATACATATATATGTATAAATACATACATATTTATACATAT ATATGTATAAATACATACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATGTATAAATACGTACATATTTATAC ATATATGTATAAATACATATACATATTTATACATATATGTATAAATACAT ATACATATTTATACATATATGTATAAATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	225	0.0044	480	c.43 others(491): Show c.4340_*4341insTGTATTTATACATATATGTATAAATATGTATATG TATTTATACATATATGTATAAATATGTATATGTATTTATACATATATGTA TAAATATGTACGTATTTATACATATATGTATAAATATGTACGTATTTATA CATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATA TGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATA TATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTA CGTATTTATACATATATATGTATAAATATGTATGTATTTATACATATATA TGTATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTA TACATATATGTATAAATATGTATGTATTTATACATATATGTATTAATACG TATTTATACATATATGTATTAATACGTATTTATACATATATGTATA		SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding					4233		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(473): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0137 a0003c0004t0003g0137	1	226	0.0044	480	c.166 others(497): Show c.1663-142_1663-141insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(473): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp1 HG01943.hp2 others(3): Show HG01099.hp1 HG01496.hp1 HG01943.hp2 HG02738.hp1 HG02896.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0035 a0001c0002t0002 a0001c0002t0098	a0001c0001t0001g0221 a0001c0001t0003g0219 a0001c0001t0004g0220 others(3): Show a0001c0001t0001g0221 a0001c0001t0003g0219 a0001c0001t0004g0220 a0001c0001t0035g0015 a0001c0002t0002g0160 a0001c0002t0098g0368	6	126	0.0476	480	c.-32 others(497): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CT		SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4						chr22	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(473): Show CCAGCCACCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCAGCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCC CATCTGGGAAGTGAGGAGCGTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01975.hp1 HG02148.hp2 others(2): Show HG00741.hp2 HG01975.hp1 HG02148.hp2 HG02300.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 others(2): Show a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274	5	253	0.0198	480	c.173 others(499): Show c.1735-8387_1735-8386insAGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGG CAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCC GTCC		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(473): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTAGGGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTGA GGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTC CGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	194	0.0052	480	c.173 others(499): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGC CCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGG AAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATGG GGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(473): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTGA GGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTC CGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18980.hp2 NA19064.hp1 NA18946.hp1 NA18980.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0360 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0360	3	196	0.0153	480	c.173 others(499): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGC CCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGG AAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATGG GGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(473): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTGA GGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTC CGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(81): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG03017.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18951.hp1 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0001c0010 a0008c0009 others(1): Show a0001c0001 a0001c0010 a0008c0009 a0012c0012	a0001c0001t0001 a0001c0010t0001 a0008c0009t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0008c0009t0001 a0012c0012t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0029 others(81): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0010t0001g0036 a0008c0009t0001g0039 a0008c0009t0001g0135 a0012c0012t0001g0060	84	277	0.3032	480	c.173 others(499): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGC CCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGG AAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATGG GGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1099388	A A	AGCAGGGC others(473): Show AGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACAGCAGGGCCCGACCCGGTCC ACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCC TCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGAC ATCAACCCAGCCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCC GACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCA GTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTG GGGCACGGACATCAACCCAGCCCCGAGCCAGTCCACCTCCTCCGGGGGAC GGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01255.hp1 others(18): Show HG00639.hp2 HG01106.hp1 HG01255.hp1 HG01517.hp1 HG01517.hp2 HG01993.hp2 HG02132.hp1 HG02132.hp2 HG02683.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 NA18943.hp1 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18984.hp1 NA18984.hp2 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0013 others(5): Show a0001c0001 a0001c0005 a0001c0013 a0001c0035 a0002c0002 a0002c0004 a0002c0011 a0002c0024	a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 others(7): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 a0001c0005t0002 a0001c0013t0003 a0001c0035t0001 a0002c0002t0002 a0002c0004t0001 a0002c0011t0002 a0002c0024t0002	a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 others(18): Show a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0103 a0001c0001t0019g0035 a0001c0001t0023g0033 a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0005t0002g0050 a0001c0013t0003g0046 a0001c0013t0003g0047 a0001c0035t0001g0054 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0004t0001g0036 a0002c0011t0002g0030 a0002c0011t0002g0034 a0002c0024t0002g0060	21	78	0.2692	480	c.125 others(497): Show c.125-5141_125-5140insCGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GCCGTCCCCCGGAGGAGGTGGACTGGCTCGGGGCTGGGTTGATGTCCGTG CCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCCGGAGGAGGTG GACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGG GTCGGGCCCTGCCGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTT GATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCC GGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGA GGTGGACCGGGTCGGGCCCTGCTGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1099388	A A	AGCAGGGC others(473): Show AGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACAGCAGGGCCCGACCCGGTCC ACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCC TCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGAC ATCAACCCAGCCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCC GACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCA GTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTG GGGCACGGACATCAACCCAGCCCCGAGCCAGTCCACCTCCTCCGGGGGAC GGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGAGCCAGTCCACCTCCTCCGGGGGACG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0004 a0003c0027t0004	a0003c0027t0004g0029 a0003c0027t0004g0029	1	58	0.0172	480	c.125 others(497): Show c.125-5141_125-5140insCGTCCCCCGGAGGAGGTGGACTGGCTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GCCGTCCCCCGGAGGAGGTGGACTGGCTCGGGGCTGGGTTGATGTCCGTG CCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCCGGAGGAGGTG GACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGG GTCGGGCCCTGCCGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTT GATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCC GGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGA GGTGGACCGGGTCGGGCCCTGCTGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1099388	A A	AGCAGGGC others(473): Show AGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCC ACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCC TCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGAC ATCAACCCAGCCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCC GACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCA GTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTG GGGCACGGACATCAACCCAGCCCCGAGCCAGTCCACCTCCTCCGGGGGAC GGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG03579.hp1 others(4): Show HG01884.hp2 HG02622.hp1 HG03579.hp1 HG03927.hp1 NA18906.hp2 NA19074.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0014 others(3): Show a0001c0001 a0001c0007 a0001c0014 a0002c0008 a0002c0011 a0002c0016	a0001c0001t0001 a0001c0007t0012 a0001c0014t0003 others(3): Show a0001c0001t0001 a0001c0007t0012 a0001c0014t0003 a0002c0008t0002 a0002c0011t0002 a0002c0016t0001	a0001c0001t0001g0038 a0001c0007t0012g0001 a0001c0014t0003g0058 others(4): Show a0001c0001t0001g0038 a0001c0007t0012g0001 a0001c0014t0003g0058 a0001c0014t0003g0059 a0002c0008t0002g0062 a0002c0011t0002g0031 a0002c0016t0001g0057	7	64	0.1094	480	c.125 others(497): Show c.125-5141_125-5140insCGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GCCGTCCCCCGGAGGAGGTGGACTGGCTCGGGGCTGGGTTGATGTCCGTG CCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCCGGAGGAGGTG GACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGG GTCGGGCCCTGCCGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTT GATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCC GGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGA GGTGGACCGGGTCGGGCCCTGCCGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(473): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTC CTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0129 a0004c0016t0001g0129	1	89	0.0112	480	c.688 others(497): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCAC CTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCT CC		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(473): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG02976.hp1 HG02109.hp2 HG02965.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0008 a0002c0005t0008 a0001c0001t0001 a0001c0001t0008 a0002c0005t0008	a0001c0001t0001g0151 a0001c0001t0008g0148 a0002c0005t0008g0082 a0001c0001t0001g0151 a0001c0001t0008g0148 a0002c0005t0008g0082	3	91	0.0330	480	c.688 others(497): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC ACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCAC TT		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(473): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTTCTATCTTGAAAGATC TCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCATT CTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCAGC ACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAGAG CAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAGAG CAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCTGA TTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCAGC TGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGTCT CCGCGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00609.hp1 others(45): Show HG00099.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01978.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG04204.hp1 NA18941.hp2 NA18945.hp2 NA18957.hp2 NA18962.hp1 NA18968.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18997.hp2 NA18998.hp2 NA19007.hp1 NA19064.hp1 NA19068.hp2 NA19080.hp2 NA19084.hp2 NA20300.hp1 NA20905.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0016 a0003c0007 others(1): Show a0001c0001 a0001c0016 a0003c0007 a0007c0009	a0001c0001t0002 a0001c0001t0006 a0001c0016t0002 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0016t0002 a0003c0007t0002 a0007c0009t0017	a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0013 others(14): Show a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0076 a0001c0001t0002g0090 a0001c0001t0006g0001 a0001c0001t0006g0019 a0001c0016t0002g0001 a0003c0007t0002g0001 a0007c0009t0017g0001	48	285	0.1684	480	c.98 others(489): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTTCT ATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGT AGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGAC CTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAA TGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCAT GGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCA GCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTG GACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAG CAGGGTCCTGTCTCCGCGCAGGAGCATCTCCCGTGGCAATGGCT		SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding					336		chr9	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(473): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCTATCTTGAAAGATC TCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCATT CTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCAGC ACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAGAG CAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAGAG CAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCTGA TTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCAGC TGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGTCT CCACGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(48): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00735.hp2 HG01515.hp1 HG01993.hp1 HG02015.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp2 HG02602.hp2 HG02683.hp1 HG03130.hp2 HG03669.hp1 HG04228.hp2 HG06807.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0016 a0001c0010t0001	a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0115 others(11): Show a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0115 a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0030 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0086 a0001c0002t0001g0097 a0001c0003t0001g0002 a0001c0003t0016g0002 a0001c0010t0001g0049	51	288	0.1771	480	c.98 others(489): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCT ATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGT AGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGAC CTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAA TGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCAT GGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCA GCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTG GACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAG CAGGGTCCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT		SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding					336		chr9	TogoVar
SLC35F1_chr6_117902264_118322671	117923697	A A	ATATACAT others(473): Show ATATACATATATACATATATGTACATATGTACATATATACATATGTACAT ATATACATATGTATATATACATATATGTACATATATACATATGTACATAT ATACATATGTATATATACATATATGTACATGTATACATATGTACATATAC ATATATGTACATATGTACATATATACATATGTATATATATACATATATGT ACATATGTACATATATACATATGTATATATACATATATGTACATATGTAC ATATATACATATACATATGTACATATACACATATACATATGTATATATAC ATATATGTACACATGTACATATACATATGTATATATGTACATATGTACAT ATATGTATATATACATATGTATATATACATATATGTATATATACATATGT ATATATACATATATGTACATATATACATATACATATGTATATGTACATAT ATGTACATATATACATATACATATGTATATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0157 a0001c0001t0025g0157	1	179	0.0056	480	c.173 others(499): Show c.173+15800_173+15801insTACATATATACATATATGTACATATG TACATATATACATATGTACATATATACATATGTATATATACATATATGTA CATATATACATATGTACATATATACATATGTATATATACATATATGTACA TGTATACATATGTACATATACATATATGTACATATGTACATATATACATA TGTATATATATACATATATGTACATATGTACATATATACATATGTATATA TACATATATGTACATATGTACATATATACATATACATATGTACATATACA CATATACATATGTATATATACATATATGTACACATGTACATATACATATG TATATATGTACATATGTACATATATGTATATATACATATGTATATATACA TATATGTATATATACATATGTATATATACATATATGTACATATATACATA TACATATGTATATGTACATATATGTACATATATACATATACATATGTATA TGTA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	A A	ATATATAC others(473): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03834.hp1 HG04184.hp1 HG03492.hp2 HG03834.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0055 a0001c0001t0005 a0001c0001t0017 a0001c0001t0055	a0001c0001t0005g0004 a0001c0001t0017g0007 a0001c0001t0055g0067 a0001c0001t0005g0004 a0001c0001t0017g0007 a0001c0001t0055g0067	3	83	0.0361	480	c.173 others(499): Show c.173+16520_173+16521insCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar

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