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
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGATCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCCTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp2 HG02280.hp1 HG03130.hp2 others(1): Show HG02258.hp2 HG02280.hp1 HG03130.hp2 HG03579.hp1	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0002 a0018c0017t0002	a0018c0017t0002g0003 a0018c0017t0002g0287 a0018c0017t0002g0003 a0018c0017t0002g0287	4	38	0.1053	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGATCCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspArgLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProIleGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	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(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGATCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA21309.hp1 NA21309.hp1	a0070 a0070	a0070c0067 a0070c0067	a0070c0067t0008 a0070c0067t0008	a0070c0067t0008g0015 a0070c0067t0008g0015	1	35	0.0286	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGATCCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProIleGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	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(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp2 HG02258.hp1 HG02717.hp2 others(2): Show HG02055.hp2 HG02258.hp1 HG02717.hp2 HG02818.hp2 HG03139.hp1	a0017 a0043 a0017 a0043	a0017c0021 a0017c0082 a0043c0044 a0017c0021 a0017c0082 a0043c0044	a0017c0021t0002 a0017c0082t0002 a0043c0044t0002 a0017c0021t0002 a0017c0082t0002 a0043c0044t0002	a0017c0021t0002g0161 a0017c0021t0002g0163 a0017c0021t0002g0164 others(2): Show a0017c0021t0002g0161 a0017c0021t0002g0163 a0017c0021t0002g0164 a0017c0082t0002g0162 a0043c0044t0002g0159	5	39	0.1282	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	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(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02630.hp1 HG02630.hp1	a0052 a0052	a0052c0106 a0052c0106	a0052c0106t0002 a0052c0106t0002	a0052c0106t0002g0251 a0052c0106t0002g0251	1	35	0.0286	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyArgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	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(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp2 HG02572.hp2 HG02622.hp2 others(9): Show HG01109.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp2	a0005 a0005	a0005c0008 a0005c0014 a0005c0008 a0005c0014	a0005c0008t0002 a0005c0008t0011 a0005c0014t0002 a0005c0008t0002 a0005c0008t0011 a0005c0014t0002	a0005c0008t0002g0247 a0005c0008t0002g0248 a0005c0008t0002g0252 others(9): Show a0005c0008t0002g0247 a0005c0008t0002g0248 a0005c0008t0002g0252 a0005c0008t0002g0253 a0005c0008t0002g0254 a0005c0008t0002g0257 a0005c0008t0011g0249 a0005c0014t0002g0143 a0005c0014t0002g0144 a0005c0014t0002g0145 a0005c0014t0002g0146 a0005c0014t0002g0147	12	46	0.2609	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	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(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18940.hp2 NA18940.hp2	a0062 a0062	a0062c0087 a0062c0087	a0062c0087t0004 a0062c0087t0004	a0062c0087t0004g0325 a0062c0087t0004g0325	1	35	0.0286	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	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(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp1 NA18949.hp1 NA18990.hp2 others(4): Show HG01243.hp1 NA18949.hp1 NA18990.hp2 NA19065.hp2 NA19080.hp2 NA19086.hp2 NA20752.hp1	a0010 a0010	a0010c0009 a0010c0062 a0010c0009 a0010c0062	a0010c0009t0004 a0010c0062t0004 a0010c0009t0004 a0010c0062t0004	a0010c0009t0004g0013 a0010c0009t0004g0327 a0010c0009t0004g0328 others(3): Show a0010c0009t0004g0013 a0010c0009t0004g0327 a0010c0009t0004g0328 a0010c0009t0004g0329 a0010c0009t0004g0330 a0010c0062t0004g0326	7	41	0.1707	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	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(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp2 HG02257.hp1 HG02451.hp1 others(4): Show HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp2 HG06807.hp2	a0012 a0012	a0012c0019 a0012c0020 a0012c0076 a0012c0019 a0012c0020 a0012c0076	a0012c0019t0002 a0012c0020t0002 a0012c0076t0002 a0012c0019t0002 a0012c0020t0002 a0012c0076t0002	a0012c0019t0002g0011 a0012c0019t0002g0289 a0012c0020t0002g0288 others(3): Show a0012c0019t0002g0011 a0012c0019t0002g0289 a0012c0020t0002g0288 a0012c0020t0002g0296 a0012c0020t0002g0297 a0012c0076t0002g0298	7	41	0.1707	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	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(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp2 HG04199.hp2 HG01168.hp2 HG04199.hp2	a0025 a0025	a0025c0107 a0025c0108 a0025c0107 a0025c0108	a0025c0107t0003 a0025c0108t0001 a0025c0107t0003 a0025c0108t0001	a0025c0107t0003g0194 a0025c0108t0001g0232 a0025c0107t0003g0194 a0025c0108t0001g0232	2	36	0.0556	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyArgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	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(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01070.hp2 HG02056.hp2 HG02165.hp1 others(4): Show HG01070.hp2 HG02056.hp2 HG02165.hp1 HG02683.hp1 NA18946.hp1 NA18950.hp2 NA19057.hp1	a0009 a0009	a0009c0011 a0009c0088 a0009c0011 a0009c0088	a0009c0011t0002 a0009c0011t0003 a0009c0088t0001 a0009c0011t0002 a0009c0011t0003 a0009c0088t0001	a0009c0011t0002g0062 a0009c0011t0003g0063 a0009c0011t0003g0127 others(4): Show a0009c0011t0002g0062 a0009c0011t0003g0063 a0009c0011t0003g0127 a0009c0011t0003g0128 a0009c0011t0003g0152 a0009c0011t0003g0201 a0009c0088t0001g0200	7	41	0.1707	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RTN1_chr14_59590983_59875776	59750589	A A	AATATATC others(503): Show AATATATCTATAATATATATATTATATCTATAATATATAATATATCTATA ATATATATATTATATCTATAATATATAATATATCTATAATATATATATTA TATCTATAATATATAATATATCTATAATATATATATTATATCTATAATAT ATAATATATCTATAATATATATATTATATCTATAATATATAATATATCTA TAATATATATATTATATCTATAATATATAATATATCTATAATATATATAT TATATCTATAATATATAATATATCTATAATATATAATATATCTATAATAT ATATATTATATATATAATATATAATATATTATATATAATATATAATATAT TATATCTATAATATATTATATGTAATATATATATGTTATATCTATAATAT ATATTATATCTATAATATATAATATATTATATCTATAAATATAATATATT ATATCTATAATATATAATATATTATATCTATAATATATAATATATATATT ATATCTATAAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	119	0.0084	510	c.242 others(527): Show c.242-4109_242-4108insATTATAGATATAATATATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATTATATTTATA GATATAATATATTATATATTATAGATATAATATATATTATAGATATAACA TATATATATTACATATAATATATTATAGATATAATATATTATATATTATA TATAATATATTATATATTATATATATAATATATATATTATAGATATATTA TATATTATAGATATATTATATATTATAGATATAATATATATATTATAGAT ATATTATATATTATAGATATAATATATATATTATAGATATATTATATATT ATAGATATAATATATATATTATAGATATATTATATATTATAGATATAATA TATATATTATAGATATATTATATATTATAGATATAATATATATATTATAG ATATATTATATATTATAGATATAATATATATATTATAGATATATTATATA TTATAGATATAATATATATATTATAGATATAT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
SDK1_chr7_3296252_4274000	3975932	A A	AGGGTCCC others(503): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0105 a0002c0042t0002g0105	1	105	0.0095	510	c.199 others(529): Show c.1994+1437_1994+1438insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC ACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(503): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGGG GTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0065 a0001c0072t0065	a0001c0072t0065g0027 a0001c0072t0065g0027	1	48	0.0208	510	c.199 others(529): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGAC GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(503): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGG TCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGG GTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0067 a0001c0087 a0001c0067 a0001c0087	a0001c0067t0068 a0001c0087t0009 a0001c0067t0068 a0001c0087t0009	a0001c0067t0068g0001 a0001c0087t0009g0054 a0001c0067t0068g0001 a0001c0087t0009g0054	2	49	0.0408	510	c.199 others(529): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACGG TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SIGIRR_chr11_400716_419999	401197	C C	CGCCCCGC others(503): Show CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCC GCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA18970.hp1 HG02293.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0002 a0001c0001t0001g0010	2	227	0.0088	510	c.46 others(521): Show c.4698_*4699insCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTG TGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCG GGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCG GGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4518		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GCCCCCCT others(503): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCC TCTAACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCC CCCCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACCCCCTCTAACCCT CTGCACACCCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG02976.hp1 others(1): Show HG02965.hp1 HG02965.hp2 HG02976.hp1 HG06807.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0015 a0005c0037 a0001c0003 a0002c0015 a0005c0037	a0001c0003t0003 a0002c0015t0015 a0005c0037t0003 a0001c0003t0003 a0002c0015t0015 a0005c0037t0003	a0001c0003t0003g0002 a0001c0003t0003g0014 a0002c0015t0015g0085 others(1): Show a0001c0003t0003g0002 a0001c0003t0003g0014 a0002c0015t0015g0085 a0005c0037t0003g0008	4	57	0.0702	510	c.125 others(527): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGTCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GCCCCCCT others(503): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCTCGCCCAGCCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCC TCTAACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCC CCCCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACCCCCTCTAACCCT CTGCACACCCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0007 a0001c0029t0007	a0001c0029t0007g0012 a0001c0029t0007g0012	1	54	0.0185	510	c.125 others(527): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGTCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGCGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(503): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGGGGGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGG CGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGA AGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGCGG GAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGG GGGGGCGGGAGGGGGGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGG GGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0123 a0001c0002t0008g0123	1	25	0.0400	510	c.914 others(529): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCGCCTC CTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCCC TCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCCCTCCCGCCCCCCCGCCCCCCCCGCCCCCCCGCCCCCCCCGCCTCCT CCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCC GCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCT CCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCC CCCTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCC CTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC		SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9						chr6	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(503): Show CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCT CCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCACCT CCTCCTCCACT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0134	1	89	0.0112	510	c.688 others(527): Show c.688-2442_688-2441insACCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCT CCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCT CCACCTCCACCTCCTCCTCCACTTCCTCCTCC		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(503): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCC TCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCC TCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCT CCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0065 a0002c0005t0006g0065	1	89	0.0112	510	c.688 others(527): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACTTCCTCCTCCACCTCC TCCTCTACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCT CCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCACCTCCACCTCCACCTCCTCCTCCACTT		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(503): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCT CCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp2 HG02647.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0006g0112 a0002c0002t0002g0133 a0001c0001t0006g0112 a0002c0002t0002g0133	2	90	0.0222	510	c.688 others(527): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCACCTCCACCTCCACCTCCTCCTCCACTT		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(503): Show ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTATATATACATATATGTACATATGTACATAT ATACATATGTATATATACATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATATACATATGTATATATGCATATATGTACATATATACATATGTATATAT GCATATATGTACATATGTACATATATACATATGTATATATACATATATGT ACATATGTACATATGTACATATACATATATGTACATATGTACATATATGT ATATATACATATATGTACATATGTACATATGTACATATGTATATATACAT ATATGTACATATGTACATATGTACATATGTATATATACATATATGTACAT ATGTACATATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	155	0.0065	510	c.173 others(529): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATATACATATGTATATATGCATATATGTA CATATATACATATGTATATATGCATATATGTACATATGTACATATATACA TATGTATATATACATATATGTACATATGTACATATGTACATATACATATA TGTACATATGTACATATATGTATATATACATATATGTACATATGTACATA TGTACATATGTATATATACATATATGTACATATGTACATATGTACATATG TATATATACATATATGTACATATGTACATATGTA		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(503): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	81	0.0123	510	c.173 others(529): Show c.173+16520_173+16521insCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLX9_chr21_44935029_44981973	44981706	C C	CCCTGCAC others(503): Show CCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTG GACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCG GGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGG GACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTT CAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTG TGGTGTTCACGGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCC TGCGTGTGGTGTTCACGGGGGACAGCGGGGCCTGGACGGGCCCTGCACAC AGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCC TGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGAC GGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGG CCTGGACGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0131 a0003c0003t0001g0131	1	332	0.0030	510	c.49 others(521): Show c.4903_*4904insCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGG GGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGT TCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGT GTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAG CCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCA CACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGCGGGGCCTGGACGGGC CCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGCGGGGCCTGG ACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGG GCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGA CAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCA GGGGGGACAGCGGGGCCTGGACGGGG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					4734		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981759	G G	GGGCCCTG others(503): Show GGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGC CTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACA GCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGG GGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGT GTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGC GTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAG AGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTG CACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGG GGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCC TGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGC GGGGCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0048 a0003c0003t0001g0048	1	331	0.0030	510	c.49 others(521): Show c.4956_*4957insGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAG AGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGG TGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTG CGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACA GAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCT GCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACG GGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGC CTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACA GCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGA GGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTG TTCAGAGGGGACAGCGGGGCCTGGAC		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					4787		chr21	TogoVar
SMIM36_chr17_55444856_55516452	55501090	A A	ATTATATA others(503): Show ATTATATATTATAATATATAATATACTATTTTATATTATAATATATAATA TATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTA TAATATAAAATATAATATACATTATATTTTATGATATATAATATACATTA TATTTTATGATATATAATATACATTATATTTTATGATATATAATATACAT TATATTTTATGATATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATATATTATATTTTATGATATATAAT ATATATTATATTTTATGATATATATTATATATTATATTTTATGATATATA ATATATATTATATTTTATGATATATAATATATATTATATTTTATGATATA TAATATATATTATATTTTATGATATATATTATATATTATATTTTATGATA TATATTATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0229	1	322	0.0031	510	c.17 others(529): Show c.174+9788_*174+9789insAATATAATATATATCATAAAATATAA TATATAATATATATCATAAAATATAATATATATTATATATCATAAAATAT AATATATATTATATATCATAAAATATAATATATATTATATATCATAAAAT ATAATATATAATATATATCATAAAATATAATATATATTATATATCATAAA ATATAATATATATTATATATCATAAAATATAATGTATATTATATATCATA AAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCA TAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATAT CATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATAT ATCATAAAATATAATGTATATTATATTTTATATTATAATATAAAATATAA TATATATTATATATTATAATATAAAATATAATATATATTATATATTATAA TATAAAATAGTATATTATATATTATAATATATAA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMOC2_chr6_168436184_168672992	168594729	C C	CGGGCATC others(503): Show CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTC ACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCC TCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTA AGGCCTCATGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCT GAGGCCTCATGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAA GGCCTCACAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0002g0054 a0001c0002t0002g0064	2	158	0.0127	510	c.638 others(527): Show c.638-4055_638-4054insTCTTCCTGAGGCCTCACGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTT TCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCT TTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATC TTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCAT CTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCA TCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGGCCTCATGGGC ATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGAGGCCTCATGGG CATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGG GCATCTTTCTAGAGGATCTCCGAGCTCCTCCT		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(503): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03942.hp2 NA18968.hp1 others(1): Show HG00558.hp2 HG03942.hp2 NA18968.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0011 a0001c0003t0035 others(1): Show a0001c0002t0001 a0001c0003t0011 a0001c0003t0035 a0001c0004t0079	a0001c0002t0001g0073 a0001c0003t0011g0302 a0001c0003t0035g0068 others(1): Show a0001c0002t0001g0073 a0001c0003t0011g0302 a0001c0003t0035g0068 a0001c0004t0079g0179	4	114	0.0351	510	c.-11 others(531): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(503): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TATAACATATG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19030.hp1 NA19002.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0014 a0001c0004 a0003c0014	a0001c0004t0039 a0003c0014t0036 a0001c0004t0039 a0003c0014t0036	a0001c0004t0039g0106 a0003c0014t0036g0201 a0001c0004t0039g0106 a0003c0014t0036g0201	2	55	0.0364	510	c.-11 others(531): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATATAACATATGATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(503): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGA AGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGG GGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	12	0.0833	510	c.34 others(519): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTC CCCCTCCCCCTTCCCCCTTCCCCT		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding					130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(503): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAAGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGA AGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGG GGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0081 a0001c0010t0001g0081	1	12	0.0833	510	c.34 others(519): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTC CCCCTCCCCCTTCCCCCTTCCCCT		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding					130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46170127	G G	GCCCCCTG others(503): Show GCCCCCTGCTCCGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTC TGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATC CTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCC AGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCT CCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGT GAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTTCTCTGTGAACATCCTCT GTGGATGTGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGA GGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTG CTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACA TCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGA TGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG00140.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0073 a0001c0001t0001g0089	2	186	0.0108	510	c.194 others(527): Show c.194-1470_194-1469insGCTCCTCCCCATCCACAGAGGATGTTCA CAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGAG GCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCA TCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGA TGTTCACAGAGCAGGGGGCTCCTCCACATCCACAGAGGATGTTCACAGAG AAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGCTCC TCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCATCCA CAGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCT CACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGG GAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCC CCATCCACAGAGGATGTTCACGGAGCAGGGGG		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4						chr21	TogoVar
STAB2_chr12_103582273_103771719	103768606	G G	GGAGGGAG others(503): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGACAGG GAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAG GGGGGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGG AGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0098 a0001c0004t0001g0098	1	126	0.0079	510	c.22 others(521): Show c.2270_*2271insGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGG AGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGG AGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGG AGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGG AGGGGAGGGGGAGAGGGGGGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGA GAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAG GGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGG GAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGA GAGGGAGAGAGAGGGAGAGAGAGGGA		STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding					1888		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(503): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATATTATATATATTATATATTATATAACTATATATTATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATAATATAACTATATATTATAT ATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0234 a0001c0001t0022g0234	1	228	0.0044	510	c.73 others(521): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATATTATATATATTATATATTATATA ACTATATATTATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATAATAT AACTATATATTATATATAATATATAG		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					3940		chr10	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGA others(503): Show GGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGTAGAGCTCACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGG CGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCA GAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATG GGGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACA GCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0290 a0001c0005t0017g0290	1	299	0.0033	510	c.299 others(527): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTG CTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGC TCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCC CGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGA GCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTG AGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCACCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTACTGTCCCCTTCCCGCCTCACCCC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TENM4_chr11_78647829_79446030	79139245	T T	TATATATT others(503): Show TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA CATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTATAA ATATATAAAACATATATTATATTTCTATAAATATATAAAACATATATTAT ATTTCTATAAATATATAAAACATATATTATATTTCTATAAATATATAAAA CATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTATAA ATATATAAAAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0033 a0001c0021t0002g0033	1	40	0.0250	510	c.-66 others(527): Show c.-66+9464_-66+9465insGTTTTATATATTTATAGAAATATAATAT ATGTTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGA AATATAATATATGTTTTATATATTTATAGAAATATAATATATGTTTTATA TATTTATAGAAATATAATATATGTTTTATATATTTATAGAAATATAATAT ATGTTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATAT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
THNSL2_chr2_88165346_88191627	88181111	C C	CTCCTCTC others(503): Show CTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0014 a0003c0005t0006g0014	1	47	0.0213	510	c.803 others(527): Show c.803-1588_803-1587insTCCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTC TTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCT		THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8						chr2	TogoVar
THNSL2_chr2_88165346_88191627	88181360	C C	CTCTCTCT others(503): Show CTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCCTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCCTCTCCTCTC TCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCCTCTCCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	45	0.0222	510	c.803 others(527): Show c.803-1339_803-1338insTCTCTCTTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTC TCTCTCCTCTCCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCT CTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCT		THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8						chr2	TogoVar
TH_chr11_2158929_2176815	2161890	C C	CACCCCTG others(503): Show CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCTTGTCCCCAGACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCTCAGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCGGGACCCTTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACC CCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0103 a0001c0002t0005g0103	1	368	0.0027	510	c.23 others(521): Show c.2342_*2343insCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGG ACAAGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GAGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAA GGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCT GGGGACAGGGGTGTGGGGACAGGGGT		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2038		chr11	TogoVar
TMEM242_chr6_157284025_157328519	157311190	A A	AGCCTCAT others(503): Show AGCCTCATCATAGTGTCCCAGTGGTCGCTCATCTAGCCTCACCATAGTGT CCCAGTGTGCGCTCACCCGGCCTCATCATAGTATCCCAGTGTGCACTCTC CCGGCCTCATCATAGTGTCCAAGTGTGCACTCACCTAGCCTCATCAGAGT GTCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCACTC ACCAGGCCTAATCATAATGCCCCAGTGTACACTCACCTAGCCTCATCATA GTGTCCCAGTGTGCGCTTACCTTACCTCATCATAGTGTCCCAGTGTGCGC TCACCTGGCCTCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCA CACTGCCCCAGTGTTCGCTCACCTAACCTCATCATAGTGTCCCATTGTGC GTTCACCTAGCCTCATCAGAGTGTCCCAGTGTGTGCTCACCCAGCCTCAT CATAGTGCCCCAGTGTACACTCACCTGGCCTCATTATACTGACCAAGTGT GCACTCACCCG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0253 a0001c0001t0015g0253	1	244	0.0041	510	c.327 others(527): Show c.327+7591_327+7592insCGGGTGAGTGCACACTTGGTCAGTATAA TGAGGCCAGGTGAGTGTACACTGGGGCACTATGATGAGGCTGGGTGAGCA CACACTGGGACACTCTGATGAGGCTAGGTGAACGCACAATGGGACACTAT GATGAGGTTAGGTGAGCGAACACTGGGGCAGTGTGATGAGGCTAGGTGAG CGCACACTGGGGCACTATGATGAGGCCAGGTGAGCGCACACTGGGACACT ATGATGAGGTAAGGTAAGCGCACACTGGGACACTATGATGAGGCTAGGTG AGTGTACACTGGGGCATTATGATTAGGCCTGGTGAGTGCACACTGGGGCA CTATGATGAGGCCGGGTGAGCGCACACTGGGACACTCTGATGAGGCTAGG TGAGTGCACACTTGGACACTATGATGAGGCCGGGAGAGTGCACACTGGGA TACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGGTGAGGCTA GATGAGCGACCACTGGGACACTATGATGAGGC		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311244	G G	GTATGCGC others(503): Show GTATGCGCTCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGG CCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCC CAGTGTGCACTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCT AGCCTCATCATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGT CCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCAC CCGGCCTCATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGT GTCCCAGTGTGCACTCACCTGGCCTCATAATAGTGCCCCAGTGTGTGCTC AACTACCCTCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATA GTGCCCAAGTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGC TCACCCGGCCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCT TAGTGCCCCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03471.hp2 HG01109.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0309 a0001c0001t0003g0310	2	318	0.0063	510	c.327 others(527): Show c.327+7537_327+7538insGTGGGGCACTAAGATGAGGCCAGGTGAG CGCACACTGTTACACTATGATGAGGCCGGGTGAGCGCACAGTGGGACACT ATGATGAGGCTAGGTAAGTGCACACTTGGGCACTATGATGAGGCCGGGTG AGTGCACACTGTGACACTATGATGAGGGTAGTTGAGCACACACTGGGGCA CTATTATGAGGCCAGGTGAGTGCACACTGGGACACTTTGATGAGGCCATG TGAGTGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGA CACTATGATGAGGCTAGGTGAGCGCACACTGGGACACTCTGATGAAGCTA GGTGTGCACACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGG GACACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTATGGTGAGGC CGGGTGAGCGCACACTGGGACACTATGATGAGGCCGCGTGAGTGCACACT GGGGCACTATGACTAGGCCGGGTGAGCGCATA		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311250	G G	GCTCACCC others(503): Show GCTCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCAT CATAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGT GCACTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTC ATCATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCC TCATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGTGTCCCA GTGTGCACTCACCTGGCCTCATAATAGTGCCCCAGTGTGTGCTCAACTAC CCTCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATAGTGCCC AAGTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGCTCACCC GGCCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCTTAGTGC CCCACTGTGCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0301 a0001c0001t0003g0301	1	270	0.0037	510	c.327 others(527): Show c.327+7531_327+7532insTGCACAGTGGGGCACTAAGATGAGGCCA GGTGAGCGCACACTGTTACACTATGATGAGGCCGGGTGAGCGCACAGTGG GACACTATGATGAGGCTAGGTAAGTGCACACTTGGGCACTATGATGAGGC CGGGTGAGTGCACACTGTGACACTATGATGAGGGTAGTTGAGCACACACT GGGGCACTATTATGAGGCCAGGTGAGTGCACACTGGGACACTTTGATGAG GCCATGTGAGTGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGACACTCTGATG AAGCTAGGTGTGCACACACTGGGACACTATGATGAGGCTAGGTGAGTGCA CACTGGGACACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTATGG TGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCGCGTGAGTG CACACTGGGGCACTATGACTAGGCCGGGTGAG		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311250	G G	GCTCACCC others(503): Show GCTCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCAT CATAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGT GCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACGTAGCCTC ATCATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCC TCATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGTGTCCCA GTGTGCACTCACCTGGCCTCATAATAGTGCCCCAATGTGTGCTCAACTAC CCTCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATAGTGCCC AAGTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGCTCACCC GGCCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCTTAGTGC CCCACTGTGCA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	270	0.0037	510	c.327 others(527): Show c.327+7531_327+7532insTGCACAGTGGGGCACTAAGATGAGGCCA GGTGAGCGCACACTGTTACACTATGATGAGGCCGGGTGAGCGCACAGTGG GACACTATGATGAGGCTAGGTAAGTGCACACTTGGGCACTATGATGAGGC CGGGTGAGTGCACACTGTGACACTATGATGAGGGTAGTTGAGCACACATT GGGGCACTATTATGAGGCCAGGTGAGTGCACACTGGGACACTTTGATGAG GCCATGTGAGTGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGACACTCTGATG AAGCTAGGTGTGCACACACTGGGACACTATGATGAGGCTACGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACACTATGG TGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCGCGTGAGTG CACACTGGGGCACTATGACTAGGCCGGGTGAG		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312355	A A	AGTGTCCC others(503): Show AGTGTCCCAGGGTGCGCTCATCCGGCCTCATGATAGTGTCGCAGTGTGCA CTCACCCAACCTAATAATAGTGTCCCAGTGTGCAATCACCTAGCCTCATC ATAGAGCCCCAGTGTCCGCTCACCTAGCCTCATCAAAGTGTCCCAGTGGG TGCTCACCTAGCCTCATCATAGTGTCCCAGTCGGCGCTCACCTAGCCTCA TCATAGTGCCCCATTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTG TGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCTGCCT CATCATAGTGAACCACTGTGCGCTCACGTAGCCTCATCATAGTGTCCCAG TGTGCGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGA CTCATCATAATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGTTTCCC AGTGAGCGCTCACCCGGCCTCATCATACTGCCCACTCTGCGCTCACCCGG CATCATCATAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19064.hp1 NA18943.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	2	304	0.0066	510	c.327 others(527): Show c.327+6426_327+6427insCTATGATGATGCCGGGTGAGCGCAGAGT GGGCAGTATGATGAGGCCGGGTGAGCGCTCACTGGGAAACTATGATGAGG CTAGGTGAGCGGATACTGGGGCATTATGATGAGTCTAGGTGAGTGCACAC TGGGACACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGA GGCTACGTGAGCGCACAGTGGTTCACTATGATGAGGCAGGGTGAGCGCAC ACTGGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGAT GAGGCTAGGTGAGCGCACAATGGGGCACTATGATGAGGCTAGGTGAGCGC CGACTGGGACACTATGATGAGGCTAGGTGAGCACCCACTGGGACACTTTG ATGAGGCTAGGTGAGCGGACACTGGGGCTCTATGATGAGGCTAGGTGATT GCACACTGGGACACTATTATTAGGTTGGGTGAGTGCACACTGCGACACTA TCATGAGGCCGGATGAGCGCACCCTGGGACAC		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(503): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGG TCAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTCAGGGAGGCCAGGGATT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGG GTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGG AGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	166	0.0060	510	c.49 others(521): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCC GGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCC TCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCC TGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTA GGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAAC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4684		chr11	TogoVar
TRIOBP_chr22_37692048_37781556	37724099	A A	ACCTCCTC others(503): Show ACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGC CCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACA ACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACC TCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCA GCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACC CCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCC TCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCG GGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCA CAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCT CCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGA CAATCCCAGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18980.hp1 NA18982.hp2 NA19080.hp2 others(1): Show NA18980.hp1 NA18982.hp2 NA19080.hp2 NA19083.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0180 a0008c0007t0003g0181 a0008c0007t0003g0182 others(1): Show a0008c0007t0003g0180 a0008c0007t0003g0181 a0008c0007t0003g0182 a0008c0007t0003g0238	4	320	0.0125	510	c.186 others(519): Show c.1865_1866insCAACCCCAGAACATCCTGCGCCCAGCGGGACAATCC CAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCT GTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGA GCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAG AGCCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCG CCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGAC AACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAAC CTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCC AGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAAC CCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTC CTCTCCCAATAGAGCCACACGAGA	p.Asp others(523): Show p.Asp622_Asn623insAsnProArgThrSerCysAlaGlnArgAspAs nProArgAlaSerSerProAsnArgAlaAlaArgAspAsnProThrThrS erCysAlaGlnArgAspAsnProArgAlaSerArgThrSerSerProAsn ArgAlaThrArgAspAsnProArgThrSerCysAlaGlnArgAspAsnPr oArgAlaSerSerProAsnArgAlaThrArgAspAsnProArgThrSerC ysAlaGlnArgAspAsnProArgAlaSerSerProAsnArgAlaAlaArg AspAsnProThrThrSerCysAlaGlnArgAspAsnProArgAlaSerAr gThrSerSerProAsnArgAlaThrArgAspAsnProArgThrSerCysA laGlnArgAspAsnProArgAlaSerSerProAsnArgAlaThrArgAsp AsnProThrThrSerCysAlaGlnArgAspAsnProArgAlaSerArgTh rSerSerProAsnArgAlaThrArgAsp	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/24	2077/10085	1866/7098	622/2365		INFO_REALIGN_3_PRIME	chr22	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(503): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGATCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0105 a0001c0027t0001g0105	1	133	0.0075	510	c.204 others(531): Show c.2046+10566_2046+10567insTCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347290	C C	CGGACCTG others(503): Show CGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAGCAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAGCAGAGATGATGCTGGACCAG TCATCTCAGGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0138 a0001c0019t0001g0139 a0001c0019t0001g0138 a0001c0019t0001g0139	2	119	0.0168	510	c.204 others(531): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAGCAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAGCAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347373	C C	CTGGACCA others(503): Show CTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGAT GCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGA TGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATG ATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03540.hp1 HG02055.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0109 a0001c0005t0002g0166 a0001c0001t0002g0109 a0001c0005t0002g0166	2	191	0.0105	510	c.204 others(531): Show c.2046+10664_2046+10665insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGATGGACCAGTCATCTCAGG		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(503): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTCTCTTCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0050 a0002c0003t0002g0050	1	8	0.1250	510	c.657 others(525): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTCTCTTCTTCCTCCCTCCTCCCTTCCCC CTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTCTCCC		TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar

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