Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(614): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCTCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCC TCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCT CTTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02622.hp2 others(4): Show HG01109.hp2 HG02055.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0002g0187 others(4): Show a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0002g0187 a0001c0001t0006g0168 a0001c0001t0006g0189 a0001c0001t0008g0191 a0001c0001t0016g0188	7	14	0.5000	621	c.424 others(638): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCTCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTC TCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNFSF13B_chr13_108264718_108313478	108278580	C C	CCTCCTCC others(614): Show CCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCCTC CCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCTGC TCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCCTC CTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCTCC TCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCTCC TGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTCCT CCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCTC TTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCT TCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTC TCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTC CTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCTCCCCTC TCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCT TCCTCCTCCTCCCCTTCTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0070 a0001c0001t0006g0070	1	382	0.0026	621	c.424 others(638): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTC TCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTTCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNFSF13B_chr13_108264718_108313478	108278587	C C	CTCTTCCT others(614): Show CTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCCTCCCCTTTT CCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCTGCTCCTCCT CTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCCTCCTCCTCT TCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCTCCTCTCCCT CCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCTCCTGCTCTT CCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC CCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCTCTTTCTCC TCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCTCCTCCT CCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACT TCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCT CCTCCCCTTCTCTTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02615.hp2 others(2): Show HG01884.hp1 HG02109.hp2 HG02615.hp2 HG02647.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0028	a0001c0001t0001g0193 a0001c0001t0009g0194 a0001c0001t0009g0195 others(2): Show a0001c0001t0001g0193 a0001c0001t0009g0194 a0001c0001t0009g0195 a0001c0001t0016g0196 a0001c0001t0028g0123	5	382	0.0131	621	c.424 others(638): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCTCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTC TCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCTTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGTTAGG others(614): Show GGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGC TGGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAG GGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAG GGAGGCCAGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	371	0.0027	621	c.47 others(632): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTG ACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACC CCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
UMAD1_chr7_7635752_7884223	7679129	T T	TATTTACA others(614): Show TATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAA TATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTA TAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAC ATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAC ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAGTACATATTTATATATTTAGTTT ATAAGTACATATTTATATATTTAATTTATAAGTATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATT TATATATTTAATTTATAGATAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	248	0.0040	621	c.82+ others(636): Show c.82+5678_82+5679insTTACATATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATA TATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATACATATTTATTTAGTTTATAAATACATATTTACAT ATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTT ACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAGTACAT ATTTATATATTTAGTTTATAAGTACATATTTATATATTTAATTTATAAGT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATTTATATATTTAATTTATAGATAAAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(614): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TTAATATAATATATAATATATATTATATAATAATAATATAATATATATAA TAATTATATAATATAGTATATAATATATATTATATAATAATAATATAATA TATATAATAATTATATAATATTAGAATATATATTATACAATAATAATATA ATATATATTATACAATAATAATATAATATATATATAATTATATAATATAA TATATATAATAATAATATAATATAATATATAATATATATTATATAGTAAT AATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	12	0.0833	621	c.55+ others(636): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATACTATATTATATAATTATTATATAT ATTATATTATTATTATATAATATATATTATATATTATATTAATTATATAA TATATATTATATATTATATTAATTATATAATATATATTATATATTATATT AATTATATAATATATCTTATATTATTATTATATAATATATATTATATATT ATATTAATTATATAATATATCTTATATTATTATTATATAATATATGTTAT ATATTACATTATTATTATATAATATACATTATATTATTATATAATGTATA TTATATATTATATTATTATATATAATATATATTATATATTATATATTATA TATAATATATATTATATATTATATATTATATTATATAATTATTATATATT GCATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(614): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATTAATATAATATATAATATATATTATATAATAATA ATATAAGATATATTATATAATTAATATAATATATAATATATATTATATAA TTAATATAATATATAATATATATTATATAATAATAATATAATATATATAA TAATTATATAATATAGTATATAATATATATTATATAATAATAATATAATA TATATAATAATTATATAATATTAGAATATATATTATACAATAATAATATA ATATATATTATACAATAATAATATAATATATATATAATTATATAATATAA TATATATAATAATAATATAATATAATATATAATATATATTATATAGTAAT AATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	12	0.0833	621	c.55+ others(636): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATACTATATTATATAATTATTATATAT ATTATATTATTATTATATAATATATATTATATATTATATTAATTATATAA TATATATTATATATTATATTAATTATATAATATATCTTATATTATTATTA TATAATATATATTATATATTATATTAATTATATAATATATATTATATATT ATATTAATTATATAATATATCTTATATTATTATTATATAATATATGTTAT ATATTACATTATTATTATATAATATACATTATATTATTATATAATGTATA TTATATATTATATTATTATATATAATATATATTATATATTATATATTATA TATAATATATATTATATATTATATATTATATTATATAATTATTATATATT GCATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(614): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAG AGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTC TTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTT GAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTC TTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	9	0.1111	621	c.917 others(640): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(614): Show CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTT CCCTTTCCCCCCTTTCCCCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	182	0.0055	621	c.-10 others(638): Show c.-10-3217_-10-3216insTCCCCCTTCCCCCCTTCCCCCTTCCCCC TTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCC CCTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB46_chr20_63738670_63836264	63825085	T T	TGCACCCC others(614): Show TGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCATC ACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCA TCACTGCACCCCCGTCTCACCATCAAACCCTCCCTCCCCCATCTTCCCAT CACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCC ATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTC CCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCT TCCCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCAT CTTCCCATCACTGTACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCC ATCTTCCCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCC CCATCTTCCCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTC CCCCATCTTCCCATCACTGCACCCCCGTCTCACCGTCCTCAAACCCTCCC TCCCCCATCTTCCCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTC CTTCCCCCATCTTCCCATCACC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp1 HG01167.hp2 HG02896.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0012 a0001c0008t0008g0013 a0001c0008t0008g0012 a0001c0008t0008g0013	2	230	0.0087	621	c.-34 others(638): Show c.-34+6011_-34+6012insGGTGATGGGAAGATGGGGGAAGGAGGGT TTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGGGGAGGGAGG GTTTGAGGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGGGGAGGGA GGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGGGGAGG GAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGGGGA GGGAGGGTTTGATGACGGTGAGACGGGGGTACAGTGATGGGAAGATGGGG GAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGG GGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGAT GGGGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAG ATGGGGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGA AGATGGGGGAGGGAGGGTTTGATGGTGAGACGGGGGTGCAGTGATGGGAA GATGGGGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGG AAGATGGGGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGC	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	1/4			chr20	TogoVar
ZBTB46_chr20_63738670_63836264	63825085	T T	TGCACCCC others(614): Show TGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCATC ACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCA TCACTGCACCCCCGTCTCACCGTCAAACCCTCCCTCCCCCATCTTCCCAT CACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCC ATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTC CCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCT TCCCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCAT CTTCCCATCACTGTACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCC ATCTTCCCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCC CCATCTTCCCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTCCCTC CCCCATCTTCCCATCACTGCACCCCCGTCTCACCGTCCTCAAACCCTCCC TCCCCCATCTTCCCATCACTGCACCCCCGTCTCACCGTCATCAAACCCTC CTTCCCCCATCTTCCCATCACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp2 HG02055.hp2 HG03098.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0030 a0001c0008t0008 a0001c0008t0030	a0001c0008t0008g0231 a0001c0008t0030g0232 a0001c0008t0008g0231 a0001c0008t0030g0232	2	230	0.0087	621	c.-34 others(638): Show c.-34+6011_-34+6012insGGTGATGGGAAGATGGGGGAAGGAGGGT TTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGGGGAGGGAGG GTTTGAGGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGGGGAGGGA GGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGGGGAGG GAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGGGGA GGGAGGGTTTGATGACGGTGAGACGGGGGTACAGTGATGGGAAGATGGGG GAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGG GGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGAT GGGGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAG ATGGGGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGA AGATGGGGGAGGGAGGGTTTGACGGTGAGACGGGGGTGCAGTGATGGGAA GATGGGGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGG AAGATGGGGGAGGGAGGGTTTGATGACGGTGAGACGGGGGTGC	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	1/4			chr20	TogoVar
ZNF182_chrX_47969851_48008989	47971555	A A	ATGTATAT others(614): Show ATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGT ATACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGT ATACGTATACATATGTATATACACGTGTATACGTATACATATGTATATAC ACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGT ATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATAC ATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATAC GTATACATATGTATATACACGTGTATACGTATACATATGTATATACACGT GTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATAT ACACGTGTATACGTATACATATGTATATACACGTGTATATGTATACATAT GTATATACACGTGTGTATTATACATATGTATATACACGTGTGTATATGTA TACATATGTATATGTATACATATGCATATACGTGTGTATATGTATACATA TGCATATACGTGTGTATATGTATACATATGCATATACATGTGTGTATATG TATACATATGCATATACATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03579.hp1 NA19043.hp1 HG01243.hp1 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0115 a0001c0001t0002g0004 a0001c0001t0002g0115	3	102	0.0294	621	c.46 others(632): Show c.4611_*4612insCACATGTATATGCATATGTATACATATACACACA TGTATATGCATATGTATACATATACACACGTATATGCATATGTATACATA TACACACGTATATGCATATGTATACATATACATATGTATACATATACACA CGTGTATATACATATGTATAATACACACGTGTATATACATATGTATACAT ATACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGT ATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATAC ATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATACACGTGTATATACA	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3295		chrX	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(614): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCTC TCCACCACCAACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCT CCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACC CCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACC ACCAACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGC GCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCA CCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCG CTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAA CCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGC ACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19088.hp2 HG02015.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0118 a0001c0001t0018 a0001c0002t0118	a0001c0001t0018g0319 a0001c0002t0118g0320 a0001c0001t0018g0319 a0001c0002t0118g0320	2	38	0.0526	621	c.181 others(642): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGG TGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGA GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(614): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCTC TCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCT CCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACC CCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACC ACCAACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGC GCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCA CCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCG CTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAA CCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGC ACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0233 a0001c0001t0035g0233	1	37	0.0270	621	c.181 others(642): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGG TGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGA GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(614): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAC AAGTATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATATGTATATATACATATATACGTGTATATACGTA TATACATGTATATACGTATATATACACATATATACATGTATATATACGTA TATATACACATATATACGTGTATATATACGTATATATACACATATATACG TGTATATATACATGTATATATACACATATATACATGTATATATATACGTA TATATACATGTATATATACGTACGTATATATACATGTATATATACGTACG TATATATATACGTATATATACACATATATACATATATACGTATATATATA TACGTATATATACATATATACGTATATATATACGTATATATACATATATA CGTATATATATACGTATATATACATATATACGTATATATATATACGTATA TATACATATATACATGTATATATATATACGTATATATACATATATACATG TATATATATATACGTATATACACATATATATACATGTATATATATGTGTA TATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	183	0.0055	621	c.-42 others(632): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATACAAGTATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATATGTATATATACATATAT ACGTGTATATACGTATATACATGTATATACGTATATATACACATATATAC ATGTATATATACGTATATATACACATATATACGTGTATATATACGTATAT ATACACATATATACGTGTATATATACATGTATATATACACATATATACAT GTATATATATACGTATATATACATGTATATATACGTACGTATATATACAT GTATATATACGTACGTATATATATACGTATATATACACATATATACATAT ATACGTATATATATATACGTATATATACATATATACGTATATATATACGT ATATATACATATATACGTATATATATACGTATATATACATATATACGTAT ATATATATACGTATATATACATATATACATGTATATATATATACGTATAT ATACATATATACATGTATATATATATACGTATATACACATATATATACAT GTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(614): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACGTATATATACATATATACGTATATA TATACGTATATATACATATATACGTATATATATACGTATATATACATATA TACGTATATATATACGTATATATACATATATACGTATATATATACGTATA TATACATATATACATGTATATATATATACGTATATATACATATATACATG TATATATATATACGTATATACACATATATATACATGTATATATATGTGTA TATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	183	0.0055	621	c.-42 others(632): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACGTATATATAC ATATATACGTATATATATACGTATATATACATATATACGTATATATATAC GTATATATACATATATACGTATATATATACGTATATATACATATATACGT ATATATATACGTATATATACATATATACATGTATATATATATACGTATAT ATACATATATACATGTATATATATATACGTATATACACATATATATACAT GTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(615): Show ATAGATAAATATATAAATATTTATATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0291 a0001c0007t0001g0292 a0001c0007t0001g0291 a0001c0007t0001g0292	2	161	0.0124	622	c.130 others(641): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATATAAATATTTATATATTTATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(615): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACGTACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACG TACATATTTATACATATATGTATAAATACATATACATATTTATACATATA TGTATAAATACATATACATATTTATACATATATGTATAAATACATATACA TATTTATACATATATGTATAAATACATATACATATTTATACATATATGTA TAAATACATATACATATTTATACATATATGTATAAATACATATTTATACA TATATGTATAAATACATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0029 a0001c0001t0100g0029	1	221	0.0045	622	c.39 others(631): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT ATGTATAAATACGTACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT ACATATTTATACATATATGTATAAATACATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1955312	T T	TAGGTGCT others(615): Show TAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTGTCTGGATGGGTA GCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGAT AGCCAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGA TAGCCAGGTGCATCCTGAAAGGAGGCACACTCTCACAGTTTCTCTGGATG GGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTGTCTGGA TGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTG GATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTGTTTCTC TGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTC TCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTGTT TCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTG TTTCTCTGGATGGGTAGCTAGGAGCATCCTGAAAGGAAGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCTAGGAGCATCCTGAAAGGAGGTGCACTCTC ACTGTTTCTCTGGATGGGTAGCG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0075 a0002c0075	a0002c0075t0004 a0002c0075t0004	a0002c0075t0004g0299 a0002c0075t0004g0299	1	192	0.0052	622	c.352 others(641): Show c.3521-1426_3521-1425insGAAAGGAGGCGCACTCTCACTGTTTG TCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTT CCTCTGGAGGATAGCCAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGT TCCTCTGGAGGATAGCCAGGTGCATCCTGAAAGGAGGCACACTCTCACAG TTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCAC TGTTTGTCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTC ACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTC ACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCAC TCTCACTGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGC ACTCACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGT GCACTCTCACTGTTTCTCTGGATGGGTAGCTAGGAGCATCCTGAAAGGAA GTGCACTCTCACTGTTTCTCTGGATGGGTAGCTAGGAGCATCCTGAAAGG AGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCCT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(615): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGA CGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	296	0.0034	622	c.36 others(633): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGC AGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(615): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAGGCCCCG ACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	296	0.0034	622	c.36 others(633): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGA GCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53991078	A A	AGGCCCCA others(615): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGG CCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03540.hp2 HG01243.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0001t0007 a0001c0002t0002	a0001c0001t0007g0165 a0001c0002t0002g0258 a0001c0001t0007g0165 a0001c0002t0002g0258	2	163	0.0123	622	c.-18 others(633): Show c.-1800_-1799insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCACCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGC CCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCA GGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		558		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991078	A A	AGGCCCCA others(615): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGG CCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03540.hp2 HG01243.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0125 a0001c0002t0009g0127 a0001c0002t0009g0125 a0001c0002t0009g0127	2	154	0.0130	622	c.82 others(633): Show c.8229_*8230insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCACCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGC CCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCA GGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		864		chr19	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(615): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTT CCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	127	0.0079	622	c.244 others(641): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA GGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGA GGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAG GAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(615): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGAAGGGG GATCCTCACGGGGAAGGGCATCCTCATGGGGAGGGGGATCCTCAGGGGGA GGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCT CCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGG GATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGA GGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGG AGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATCCT CACGGGGAAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGA TCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCCTCATGGGGAGGG GGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAG GGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0049 a0001c0001t0020g0049	1	5	0.2000	622	c.234 others(643): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAG GGGGATCCTCAGGGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCATGG GGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCC TCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGA AGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAA GGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGG GGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTC CTCAGGGGGAGGGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAGG GGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGG AGGGGATCCTCATGGGGAGGGGGGATCCTCAGAGGGAGGGGGGATCCTTG GGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(615): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGGTG GGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	4	0.2500	622	c.712 others(639): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCC CCCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACC CCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCC CCCTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCC ACCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCAC CCTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCAC TCCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCA CCCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACAC CCTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACC CCACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCA ACCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCC CACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(615): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGTGGTGGGGGAAGGGTG TGTGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGG GGCTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTG GGGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTG CAGGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGG GTGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAG GGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTG GGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	4	0.2500	622	c.712 others(639): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCCACC CCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCACCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACC CCACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCA ACCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCC CACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(615): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCCCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCC TCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0035 a0001c0001t0017g0035	1	12	0.0833	622	c.-45 others(643): Show c.-455+14589_-455+14590insCTCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCCCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(615): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGTAGGGGAG GGAGGGGAGAGGGTAGGGGAGGGAGGGAGGAGGAGGGGAGAGGTAGGGAG GGAGAGGAGGGGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGA GGGAGGGGAGAGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGA AATGGTATGGGAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGAGCAGA GGGGAAAGGGTAGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGAG GGAGGGGAGAGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGTAG GGGAGGGAAGGAGGGGAGACGGTAGGGGAGGGAGGAAGAGGAGGGGAGAG GGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGG TAGGGAGGGAGGGGAGGAGGGAAGAGGGTAGGGAGGGAGGGAGAGGAGAG GGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTGGGGAGGAGGGGAGAGGTT AGGGAGGGAGGGAGAGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0269 a0006c0027t0001g0269	1	8	0.1250	622	c.328 others(639): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTCCCTAACCT CTCCCCTCCTCCCCACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTC CTCTCCCTCCCTCCCTACCCTCTTCCCTCCTCCCCTCCCTCCCTACCCTC TCCCCTCCTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTC CCCTCCTCTTCCTCCCTCCCCTACCGTCTCCCCTCCTTCCCTCCCCTACC CTCTCCCCTCCCCTACCCTCTCCCCTCCCCTACCCTCTCCCCTCCCTCCC TACCTCCCCTACCCTCTCCCTTCCTTCCCTCCCTACCCTTTCCCCTCTGC TCCCTCTCTCCCCTACCCTCTCCCCTCCCTCCCTCCCATACCATTTCCCC TCCTTCCCTCCCCTACCCGCTCCCCTCCCTCCCCTCTCCCCTCCCTCCTC TTTCCTCTCCCCTCCCTGCGTCCCCTCCCTTCTCCCCTCCTCTCCCTCCC TACCTCTCCCCTCCTCCTCCCTCCCTCCCCTACCCTCTCCCCTCCCTCCC CTACCCTCCCTCCCCCACCCTCTCCCCTCCCTCCCCTCACCATCTCCCCT GCCTCCCCTCACCCTCTCTCCTGCCTCCCCAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(615): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAACCACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0109 a0013c0014t0001g0109	1	8	0.1250	622	c.217 others(637): Show c.2176-73_2176-72insCCGGCCCCGTGCCCGCCCCCCCAACCACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL4A1_chr13_110143963_110312157	110255786	A A	AGGGGGAA others(615): Show AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAA GGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGA AGGGAGGGGGCAGGCAAGAAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0090 a0001c0020t0001g0090	1	315	0.0032	622	c.85- others(639): Show c.85-13053_85-13052insCCCTTCTTGCCTGCCCCCTCCCTTCCTG CCTGCCCCCTTCCCTTCCTGCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCC TTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTGCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DOCK1_chr10_126900428_127457516	126947980	G G	GTGGTGGT others(615): Show GTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGATGATGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGATGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTT GGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG01884.hp2 HG02922.hp2	a0001 a0001	a0001c0025 a0001c0038 a0001c0025 a0001c0038	a0001c0025t0002 a0001c0038t0001 a0001c0025t0002 a0001c0038t0001	a0001c0025t0002g0025 a0001c0038t0001g0076 a0001c0025t0002g0025 a0001c0038t0001g0076	2	84	0.0238	622	c.47- others(639): Show c.47-22715_47-22714insTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGATGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGATGATGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGCGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	164	0.0061	622	c.127 others(637): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCAC CATCTCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACC TCCCGCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACC TCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACC TCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTC TCCGTCTCCCACCACTTCCCACCACCTCCCACCACCTCCCGCCGTCTCCC ACCACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTC ACCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCC ACCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCT ACCACCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCC ACCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCC ACTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00621.hp2 others(50): Show HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG01928.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02451.hp1 HG02818.hp1 HG03017.hp2 HG03654.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19077.hp1 NA19079.hp2 NA19090.hp1 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0017 a0001c0002 a0006c0017	a0001c0002t0001 a0006c0017t0001 a0001c0002t0001 a0006c0017t0001	a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0026 others(4): Show a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0072 a0001c0002t0001g0074 a0006c0017t0001g0071	53	216	0.2454	622	c.127 others(637): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCAC CATCTCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACC TCCCGCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACC TCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACC TCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTC TCCGTCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCC ACCACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTC ACCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCC ACCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCT ACCACCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCC ACCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCC ACTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTGGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	164	0.0061	622	c.127 others(637): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCAC CATCTCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACC TCCCGCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACC TCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACC TCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTC TCCGTCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCC ACCACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTC ACCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCC ACCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCT ACCACCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCC ACCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCC ACTGTCTCCCACTACCTCCCACCATCTCCCACCACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(615): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCATATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCATATAT ATCATATATCACATATATCATATATATCATATATTATATATATCATATAT CATATATATCATATATATCATATATCATATATATCATATATATCATATAT ATCATATATATCATATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATATTATATATTATATATCATATATATCATAT ATATTATATATCATATATCATATATATCATATATATTATATATCATATAT CATATATATCATATATATTATATATCATATATCATATATATCATATATAT TATATATCATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0049 a0002c0006t0004g0049	1	202	0.0050	622	c.-22 others(633): Show c.-2234_-2233insTGATATATGATATATGATATATAATATATATGAT ATATATGATATATGATATATAATATATATGATATATATGATATATGATAT ATAATATATATGATATATATGATATATGATATATAATATATATGATATAT ATGATATATAATATATAATATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATATGATATATATGATATATATGATAT ATATGATATATATGATATATGATATATATGATATATATGATATATGATAT ATATAATATATGATATATATGATATATGTGATATATGATATATATGATAT ATGTGATATATGTGATATATGATATATGTGATATATGTGATATATGATAT ATGTGATATATGTGATATATGATATATGTGATATATGATAATGATATGAT ATATATGATATGATATATATGATAGATCATATATGATCTCATATATATGA TATATATGATATAATATATGATCTATCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(615): Show ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT GTATATTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATACATTTATATACATATAAATATATACATATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATATATTTATATATATATA AATATATATATATTTATATATATATACATATAAATATATATTTATATACA TATAAATATATAATTATATACATATAAATATATAATTATATACATATAAA TATATATAATTATATACATATAAATATATATTTATATACATATAAATATA TATTTATATACATATAAATTTATATACATATAAATATAAATATTTATATT TATATACATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0012 a0012	a0012c0045 a0012c0045	a0012c0045t0001 a0012c0045t0001	a0012c0045t0001g0220 a0012c0045t0001g0220	1	272	0.0037	622	c.49 others(633): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATTTATATGTATATAAATATATATTTATAT GTATATAAATATATATTTATATGTATATAATTATATATATTTATATGTAT ATAATTATATATTTATATGTATATAATTATATATTTATATGTATATAAAT ATATATTTATATGTATATATATATAAATATATATATATTTATATATATAT AAATATATATAAATATATATATTTATATGTATATAAATATATATTTATAT GTATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTAT GTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAAT ATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATAT TTATATGTATATAAATATATATATTTATATGTATATAAATATATATATTT ATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATATTTATATGTATATAATATACATACATATATA TTTATATGTATATACATATATATTTATATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
GEMIN4_chr17_739421_757264	753305	C C	CGAAGGAA others(615): Show CGAAGGAAGTGGGGGGCATGGAGCGCGAACAAAGGGGCGTGCAAGATGGA CGCCATGAGGGGCTACGCGGCCAGAGTGAGGAGATGAGGAAGAAGGAAGT GGGGGGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGACGCCATGAGG GGCTACGCGGCCAGAGTGAGGAGATGAGGAAGAAGGAAGTGGGGGGCGTG GAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGG CCAGAGTGAGGAGATGAGGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAAC AAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAGAGTGAG ATGAGGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTGCA AGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAG GAAGTGGGGGGCATGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCA TGAGGGGCTACGCGGCCAGAGTGAGGAGATGAGGAAGAAGGAAGTGGGGG GCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTA CGCGGCCAGAGTGAGGAGATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0029 a0017c0020t0001g0029	1	431	0.0023	622	c.-11 others(633): Show c.-1164_-1163insCTCATCTCCTCACTCTGGCCGCGTAGCCCCTCAT GGCGTCCATCTTGGACGCCCCTTTGTTCGCGCTCCACGCCCCCCACTTCC TTCTTCCTCATCTCCTCACTCTGGCCGCGTAGCCCCTCATGGCGTCCATC TTGCACGCCCCTTTGTTCGCGCTCCATGCCCCCCACTTCCTTCGTCAGCT CCTCCACTTTGGCCGCGTAGCCCCTCATGGCGTCCATCTTGCACGCCCCT TTGTTCGCGCTCCACGCCCCCCACTTCCTTCTTCCTCATCTCACTCTGGC CGCGTAGCCCCTCATGGCGTCCATCTTGGACGCCCCTTTGTTCGCGCTCC ACGCCCCCCACTTCCTTCTTCCTCATCTCCTCACTCTGGCCGCGTAGCCC CTCATGGCGTCCATCTTGCACGCCCCTTTGTTCGCGCTCCACGCCCCCCA CTTCCTTCTTCCTCATCTCCTCACTCTGGCCGCGTAGCCCCTCATGGCGT CCATCTTGGACGCCCCTTTGTTCGCGCTCCACGCCCCCCACTTCCTTCTT CCTCATCTCCTCACTCTGGCCGCGTAGCCCCTCATGGCGTCCATCTTGCA CGCCCCTTTGTTCGCGCTCCATGCCCCCCACTTCCTTC	GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding		1042		chr17	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(615): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATATA TTTATATATATAAATATATATATTTATATATATAAATATATATATATTTA TATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTA TATTTATATATATATATATAAATATATATTTATGTATATTTATATATAAA TATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	95	0.0105	622	c.-97 others(639): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATATATTTATATATATAAATATATATATTTATATATATAAATATATAT ATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATAT ATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTAT ATATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(615): Show TCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	212	0.0047	622	c.633 others(639): Show c.633-1163_633-1162insTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(615): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGC CACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAG GGCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCA AGCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0276 a0006c0007t0005g0276	1	91	0.0110	622	c.251 others(639): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGGTGCCCTC TCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGA GCTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGA GTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGG GTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGG TGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCA TCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCC TCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTT GTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTG GTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
INSR_chr19_7107265_7299414	7153470	A A	ACACACAC others(615): Show ACACACACCATACACGCACCACACACACACTACATGCACACCTCACACAC CACACCACACACCGCACACACACCACACAAATCACACACACACCACACAC ACCCACGCCACACACCACAGACCACACACACCACACACCCCACACACACC ACACACCACACACACCAAACACACCATACATGCACCACACAACCACATGC ACACCTCACACACCATACCACACACCACACACACCACACAAATCACACAC ATACTACACACACCCACGCCACACACCACACACACACCACACACGCCACA CAACGGACCACACATACACCACACACCACAAACACAACCACACACACACT ATACACACACACCACACACACCACACAACAGACCACACATACACACACCA CACACCACACACACCATACACACACACCACACATACCACACACACCACAC ACACAACCACACACACACACCACACACACAACAGACCACACATACACACA CCACAAACACAACCACACACACCACACCATACACACACACCATACACGCA CCACACACACACCACATACACACTTCACACACACCACACACCACACAAAT CACACACACCACCACACCCACGC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0051 a0001c0004t0006g0051	1	224	0.0045	622	c.203 others(639): Show c.2030-544_2030-543insGCGTGGGTGTGGTGGTGTGTGTGATTTG TGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGT GTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGTGTGT GTATGTGTGGTCTGTTGTGTGTGTGGTGTGTGTGTGTGGTTGTGTGTGTG GTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTGTGTGGTG TGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGTATAGTGT GTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGTTGTGTGG CGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGTATGTGTG TGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGTGTGCATG TGGTTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGTGGTGT GTGTGGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGCGTGGGTGTGTG TGGTGTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGTGGTGTGGTGTG TGAGGTGTGCATGTAGTGTGTGTGTGGTGCGTGTATGGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(615): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCT GGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTG GAATTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGG AGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCT GGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGG GGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCTGGAG GGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGC TCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGC GGGGGCTCTGGAGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20129.hp2 HG02615.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0013 a0003c0005t0022 a0003c0005t0013 a0003c0005t0022	a0003c0005t0013g0036 a0003c0005t0022g0247 a0003c0005t0013g0036 a0003c0005t0022g0247	2	101	0.0198	622	c.623 others(639): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGC TGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGG GGCTCAGGAGGGAGAGGTGGAATTCGGTGGGGAGGCAGGGCTCAGGGGGG AGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCG GGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGG GGCTCTGGAGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC TCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGG GGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGG CTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIF25_chr6_167992671_168050091	167997264	G G	GCGGGGGA others(615): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGG ACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGAC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	296	0.0034	622	c.-22 others(633): Show c.-2205_-2204insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAAT CTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCA GAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGC AGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCT GCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149476	T T	TCTCCTCA others(615): Show TCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACA GCTCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACACC ACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCT CTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGC TCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTGTCCTCC TCACACACCACACAGCCCACACCCCTCTCCTCACACCACACAGCTCACAC CCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCAC ACAGCTCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCC TCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCAC ACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACAC ACCACACAGCCCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0229 a0002c0001t0001g0229	1	296	0.0034	622	c.66 others(633): Show c.6686_*6687insCTCCTCACACACCACACAGCTCACACCCCTCTCC TCCTCACACCACACAGCTCACACCCCTCTCCTCCTCACACCACAGAGCCC ACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTC TCCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCAC ACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCT CACACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTC ACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACA CCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTC TCCTCCTCACACCACACAGCTCACACCCCTCTCCTCCTCACACCACAGAG CCCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACA CACCACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCC CTCTCCTGCTCACACACCACACAGCCCACACCCCTCTC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3885		chr1	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(615): Show ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTTTATATATATTTATATATATTT ATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTT ATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATTTATATATATAGTTATATATTTATATATATTTATATATATTTATAT ATATATTTATATATTTATTTATATATATTTATATATGTATTTATATATAT TTATATATATTTATATGTATTTATATATATTTATATATATTTATATATAT ATATATAAATATATTTATATATATAAATATAAATATTTATATATATTTAT ATATATTTATATATATATTTATGTATATTTATATATATTTATATATATAT TTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18975.hp1 HG02735.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0003g0194 a0001c0001t0001g0039 a0001c0001t0003g0194	2	81	0.0247	622	c.125 others(639): Show c.125+9673_125+9674insATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTTTAT ATATATTTATATATATTTATATATAGTTATATATATTTATGTATAGTTAT ATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTT ATGTATAGTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATAT ATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTT ATATATATAGTTATATATATATTTATATATATAGTTATATATTTATATAT ATTTATATATATTTATATATATATTTATATATTTATTTATATATATTTAT ATATGTATTTATATATATTTATATATATTTATATGTATTTATATATATTT ATATATATTTATATATATATATATAAATATATTTATATATATAAATATAA ATATTTATATATATTTATATATATTTATATATATATTTATGTATATTTAT ATATATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(615): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACC CGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCC CTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	246	0.0041	622	c.-8+ others(635): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(615): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTG CCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0142 a0001c0010t0001g0142	1	6	0.1667	622	c.-8+ others(635): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAG GGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGG GTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MYDGF_chr19_4652545_4675342	4663119	T T	TCATCCTC others(615): Show TCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCT CATTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCTCATTC TACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCC TCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATC TACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAATCTACCC TCCCCACCCGTCCTGTCCACATTCTACACAGTCTCCAATCTACCCTCCCC ACCCACCCCATCCTCATTCTACAGCCTCCAATCTGTGCCCTCTCCACCCA TCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCGTCCTG TCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTC ATTCTACACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCT ACACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACA GCCTCCAATCTACCCTCCCCACCCGTCCTGTCCACATTCTACACAGTCTC CAATCTACCCTCCCCACCCACCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp1 HG03139.hp2 others(2): Show HG02109.hp2 HG02818.hp1 HG03139.hp2 HG06807.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 others(2): Show a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0097	5	367	0.0136	622	c.287 others(639): Show c.287+1756_287+1757insGGGTGGGTGGGGAGGGTAGATTGGAGAC TGTGTAGAATGTGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGT AGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAAT GAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGA CAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGACAGGA CGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGATGGGT GGAGAGGGCACAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGA GGGTAGATTGGAGACTGTGTAGAATGTGGACAGGACGGGTGGGGAGGGTA GATTGGAGGCTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTG GAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTG TAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATG AGGACGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGAC AGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NCK2_chr2_105739912_105899272	105755743	T T	TGCCCATA others(615): Show TGCCCATATGGACATTTGGCGACGTCTGGAGATATTTTTAATTGTCATGC CTGTGGGGTGCTACTGGCGTTTAGTGGGATGGTAGACGAGGGATGCTACT AAATATCCTGCAATGTATAGGACAGCCTCCACAACAAAGAATTAACTAGC TCAAAATGTCAGTATTTAAGCAACCTTGATATAAGTGAACGCTGCTCCGC TTTTTTTAAATGTTTAAGTCAGGGGCACATGCATTCCTTCACACAGTTGC CTTTGGAGATCAATTTCTTTTCTTCCATTTTAATAAACATAGTGAAAAAA TACATATGTAGAGATCTAAACACAATTTACACATGTGTGCGGTTAAATAG GTAAAGGAGAAACTGTCACGTAACTGACTTAGCCATGTTTTTTGTTTATC TGTAATAACGTTAGTGTTAAAGTAATGGCATACATTACTTTTTTATTTTC TCATTCAACATATTTGGACCATAAACATACAAAATGCTGATTTTGCGGGA AACATTTTGATATCCGGCTGGGATGTGATAAGAGTACATTCCCCTCAGAA TGCCCACTGATGTGGAAGTAATGAGGGAGCTTTTATCAATTACTTTTAAT AAGTAATTGATTTTCAGAGTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	332	0.0030	622	c.-20 others(643): Show c.-201+10608_-201+10609insCATATGGACATTTGGCGACGTCTG GAGATATTTTTAATTGTCATGCCTGTGGGGTGCTACTGGCGTTTAGTGGG ATGGTAGACGAGGGATGCTACTAAATATCCTGCAATGTATAGGACAGCCT CCACAACAAAGAATTAACTAGCTCAAAATGTCAGTATTTAAGCAACCTTG ATATAAGTGAACGCTGCTCCGCTTTTTTTAAATGTTTAAGTCAGGGGCAC ATGCATTCCTTCACACAGTTGCCTTTGGAGATCAATTTCTTTTCTTCCAT TTTAATAAACATAGTGAAAAAATACATATGTAGAGATCTAAACACAATTT ACACATGTGTGCGGTTAAATAGGTAAAGGAGAAACTGTCACGTAACTGAC TTAGCCATGTTTTTTGTTTATCTGTAATAACGTTAGTGTTAAAGTAATGG CATACATTACTTTTTTATTTTCTCATTCAACATATTTGGACCATAAACAT ACAAAATGCTGATTTTGCGGGAAACATTTTGATATCCGGCTGGGATGTGA TAAGAGTACATTCCCCTCAGAATGCCCACTGATGTGGAAGTAATGAGGGA GCTTTTATCAATTACTTTTAATAAGTAATTGATTTTCAGAGTTTGGCC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

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